Incidental Mutation 'R4782:Atr'
| ID |
366620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atr
|
| Ensembl Gene |
ENSMUSG00000032409 |
| Gene Name |
ataxia telangiectasia and Rad3 related |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4782 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
95739650-95833834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95744850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 56
(V56I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034980]
[ENSMUST00000215311]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034980
AA Change: V56I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034980
Gene: ENSMUSG00000032409
AA Change: V56I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
431 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
897 |
N/A |
INTRINSIC |
|
low complexity region
|
998 |
1013 |
N/A |
INTRINSIC |
|
UME
|
1119 |
1225 |
2.3e-43 |
SMART |
|
low complexity region
|
1352 |
1362 |
N/A |
INTRINSIC |
|
Pfam:FAT
|
1771 |
2092 |
9.2e-51 |
PFAM |
|
PI3Kc
|
2320 |
2630 |
7.51e-124 |
SMART |
|
FATC
|
2609 |
2641 |
6.22e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178038
|
| SMART Domains |
Protein: ENSMUSP00000136667
Gene: ENSMUSG00000096655
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
158 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188975
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189348
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190890
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215311
AA Change: V56I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice heterozygous for a knock-out allele exhibit premature death and increased tumor incidence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 121 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,278,096 (GRCm39) |
E3092G |
probably damaging |
Het |
| Abhd12b |
C |
G |
12: 70,215,838 (GRCm39) |
S170C |
probably damaging |
Het |
| Abtb2 |
A |
T |
2: 103,547,644 (GRCm39) |
D1006V |
probably benign |
Het |
| Abtb3 |
A |
C |
10: 85,490,414 (GRCm39) |
I1027L |
probably damaging |
Het |
| Adgrl1 |
A |
G |
8: 84,662,202 (GRCm39) |
H1021R |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,241,665 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,863 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
CA |
C |
12: 52,934,406 (GRCm39) |
|
probably null |
Het |
| Amotl2 |
T |
G |
9: 102,597,322 (GRCm39) |
|
probably null |
Het |
| Ankrd34b |
T |
A |
13: 92,574,813 (GRCm39) |
I15N |
probably damaging |
Het |
| Ap3d1 |
C |
T |
10: 80,557,420 (GRCm39) |
|
probably null |
Het |
| Appl2 |
A |
T |
10: 83,436,855 (GRCm39) |
D635E |
probably damaging |
Het |
| Arid1b |
C |
T |
17: 5,389,496 (GRCm39) |
P1681S |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,440,843 (GRCm39) |
M496T |
probably benign |
Het |
| Atp2c2 |
A |
G |
8: 120,475,891 (GRCm39) |
K595E |
probably damaging |
Het |
| Atpaf2 |
T |
C |
11: 60,295,238 (GRCm39) |
H204R |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,991,006 (GRCm39) |
T183I |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,098,203 (GRCm39) |
D965G |
possibly damaging |
Het |
| Ccdc171 |
A |
T |
4: 83,599,253 (GRCm39) |
E689D |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,503,613 (GRCm39) |
Q346L |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,748,773 (GRCm39) |
V281A |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,134,184 (GRCm39) |
M721K |
possibly damaging |
Het |
| Col22a1 |
T |
A |
15: 71,673,774 (GRCm39) |
T981S |
unknown |
Het |
| Cpox |
G |
A |
16: 58,492,986 (GRCm39) |
A207T |
probably damaging |
Het |
| Cym |
G |
A |
3: 107,123,413 (GRCm39) |
T160I |
possibly damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,062,023 (GRCm39) |
I664T |
probably damaging |
Het |
| Ddx4 |
C |
T |
13: 112,750,230 (GRCm39) |
|
probably null |
Het |
| Ddx4 |
A |
T |
13: 112,787,894 (GRCm39) |
V15E |
probably benign |
Het |
| Depdc1a |
G |
A |
3: 159,232,273 (GRCm39) |
E675K |
probably damaging |
Het |
| Dglucy |
A |
T |
12: 100,816,602 (GRCm39) |
M415L |
probably benign |
Het |
| Dlg4 |
C |
T |
11: 69,917,780 (GRCm39) |
P21L |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 49,996,059 (GRCm39) |
N395I |
probably damaging |
Het |
| Dzank1 |
A |
T |
2: 144,346,319 (GRCm39) |
C249S |
probably damaging |
Het |
| Efnb2 |
A |
T |
8: 8,673,104 (GRCm39) |
|
probably null |
Het |
| Ercc6l2 |
T |
G |
13: 63,982,552 (GRCm39) |
I244S |
probably damaging |
Het |
| Ewsr1 |
A |
T |
11: 5,020,423 (GRCm39) |
M584K |
unknown |
Het |
| Fam193b |
A |
G |
13: 55,691,284 (GRCm39) |
S197P |
probably damaging |
Het |
| Fanca |
A |
G |
8: 124,014,941 (GRCm39) |
V689A |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,279,178 (GRCm39) |
Y436* |
probably null |
Het |
| Fbxo31 |
A |
G |
8: 122,279,180 (GRCm39) |
Y436H |
probably damaging |
Het |
| Fcna |
T |
A |
2: 25,515,338 (GRCm39) |
D215V |
probably damaging |
Het |
| Foxj3 |
A |
T |
4: 119,478,857 (GRCm39) |
S438C |
unknown |
Het |
| Gcm2 |
T |
C |
13: 41,256,970 (GRCm39) |
K260E |
possibly damaging |
Het |
| Gcnt4 |
A |
T |
13: 97,083,914 (GRCm39) |
L403F |
possibly damaging |
Het |
| Gdf10 |
A |
G |
14: 33,653,870 (GRCm39) |
T126A |
probably benign |
Het |
| Ggcx |
A |
G |
6: 72,405,875 (GRCm39) |
K569E |
probably benign |
Het |
| Gm10250 |
C |
T |
15: 5,150,578 (GRCm39) |
|
probably benign |
Het |
| Gpnmb |
G |
T |
6: 49,022,417 (GRCm39) |
|
probably null |
Het |
| Ifi44 |
G |
A |
3: 151,451,229 (GRCm39) |
P241S |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,265,184 (GRCm39) |
T1011A |
probably benign |
Het |
| Jag2 |
A |
T |
12: 112,877,869 (GRCm39) |
S595T |
probably benign |
Het |
| Kif5a |
T |
A |
10: 127,066,823 (GRCm39) |
Q960L |
probably benign |
Het |
| Kifc2 |
A |
G |
15: 76,548,548 (GRCm39) |
E430G |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,544,627 (GRCm39) |
C323* |
probably null |
Het |
| Lgsn |
T |
C |
1: 31,242,823 (GRCm39) |
Y302H |
probably benign |
Het |
| Lmbrd1 |
G |
A |
1: 24,784,056 (GRCm39) |
|
probably null |
Het |
| Lrpap1 |
A |
G |
5: 35,256,622 (GRCm39) |
V120A |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,261,858 (GRCm39) |
D46E |
possibly damaging |
Het |
| Mbd4 |
C |
A |
6: 115,822,283 (GRCm39) |
R63L |
possibly damaging |
Het |
| Mfsd10 |
T |
C |
5: 34,792,293 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
G |
T |
4: 155,744,229 (GRCm39) |
S144R |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,401,453 (GRCm39) |
C566* |
probably null |
Het |
| Ndufs1 |
C |
A |
1: 63,200,108 (GRCm39) |
G268V |
probably damaging |
Het |
| Nfs1 |
A |
G |
2: 155,976,369 (GRCm39) |
V175A |
possibly damaging |
Het |
| Ngb |
G |
A |
12: 87,146,999 (GRCm39) |
H73Y |
probably benign |
Het |
| Npepps |
G |
A |
11: 97,117,652 (GRCm39) |
T549I |
probably damaging |
Het |
| Nr1h2 |
A |
G |
7: 44,199,923 (GRCm39) |
V329A |
possibly damaging |
Het |
| Nsun6 |
T |
C |
2: 15,041,137 (GRCm39) |
I151M |
possibly damaging |
Het |
| Ofcc1 |
T |
C |
13: 40,155,368 (GRCm39) |
|
probably null |
Het |
| Or1e31 |
C |
T |
11: 73,689,665 (GRCm39) |
C306Y |
probably benign |
Het |
| Or2y16 |
T |
A |
11: 49,334,696 (GRCm39) |
F6Y |
probably benign |
Het |
| Or2z8 |
A |
G |
8: 72,811,938 (GRCm39) |
N138S |
probably benign |
Het |
| Or51h1 |
T |
A |
7: 102,308,041 (GRCm39) |
N4K |
possibly damaging |
Het |
| Or5an1c |
C |
T |
19: 12,218,936 (GRCm39) |
V30I |
probably benign |
Het |
| Or8b46 |
A |
G |
9: 38,450,371 (GRCm39) |
Y60C |
probably damaging |
Het |
| Parp6 |
A |
G |
9: 59,542,267 (GRCm39) |
|
probably null |
Het |
| Pcnt |
C |
A |
10: 76,245,411 (GRCm39) |
R1075S |
possibly damaging |
Het |
| Pla2g4f |
T |
C |
2: 120,133,757 (GRCm39) |
E548G |
probably damaging |
Het |
| Polrmt |
G |
T |
10: 79,575,357 (GRCm39) |
H725N |
probably benign |
Het |
| Pou2f3 |
T |
C |
9: 43,051,153 (GRCm39) |
T178A |
probably damaging |
Het |
| Prtn3 |
C |
A |
10: 79,717,899 (GRCm39) |
P169H |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 76,009,769 (GRCm39) |
I764T |
probably benign |
Het |
| Ptprh |
A |
T |
7: 4,572,576 (GRCm39) |
H467Q |
probably benign |
Het |
| Raph1 |
A |
T |
1: 60,528,273 (GRCm39) |
I996N |
probably damaging |
Het |
| Rasa4 |
G |
A |
5: 136,120,083 (GRCm39) |
W53* |
probably null |
Het |
| Rasgrp1 |
C |
T |
2: 117,115,356 (GRCm39) |
R744Q |
probably benign |
Het |
| Rmnd5a |
T |
C |
6: 71,390,333 (GRCm39) |
E141G |
probably damaging |
Het |
| Rps12 |
T |
C |
10: 23,662,688 (GRCm39) |
I51M |
possibly damaging |
Het |
| Scn10a |
T |
G |
9: 119,451,976 (GRCm39) |
S1316R |
possibly damaging |
Het |
| Sdhb |
A |
G |
4: 140,704,777 (GRCm39) |
H246R |
possibly damaging |
Het |
| Setx |
G |
A |
2: 29,034,058 (GRCm39) |
R332Q |
probably damaging |
Het |
| Siglec1 |
A |
C |
2: 130,917,843 (GRCm39) |
S1011R |
probably damaging |
Het |
| Sin3b |
A |
C |
8: 73,452,271 (GRCm39) |
I126L |
probably benign |
Het |
| Slc11a1 |
T |
G |
1: 74,423,247 (GRCm39) |
L366R |
probably damaging |
Het |
| Slc12a1 |
C |
T |
2: 125,002,999 (GRCm39) |
R177* |
probably null |
Het |
| Slc30a1 |
A |
C |
1: 191,641,160 (GRCm39) |
K269Q |
probably benign |
Het |
| Slco1a5 |
T |
C |
6: 142,194,533 (GRCm39) |
Y370C |
possibly damaging |
Het |
| Slf2 |
T |
A |
19: 44,923,364 (GRCm39) |
|
probably null |
Het |
| Sltm |
A |
G |
9: 70,496,339 (GRCm39) |
H958R |
probably damaging |
Het |
| Snrnp40 |
A |
G |
4: 130,256,549 (GRCm39) |
I91M |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,058,232 (GRCm39) |
Q1900L |
probably benign |
Het |
| Srgn |
C |
T |
10: 62,333,631 (GRCm39) |
E49K |
possibly damaging |
Het |
| Ssu2 |
A |
C |
6: 112,353,411 (GRCm39) |
C238G |
probably damaging |
Het |
| Terf2 |
G |
T |
8: 107,803,307 (GRCm39) |
H425Q |
probably benign |
Het |
| Thra |
G |
A |
11: 98,646,990 (GRCm39) |
S37N |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,610,845 (GRCm39) |
D246G |
probably damaging |
Het |
| Ubap2l |
G |
A |
3: 89,928,210 (GRCm39) |
T553M |
probably damaging |
Het |
| Usp10 |
A |
G |
8: 120,667,930 (GRCm39) |
Y77C |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,625,813 (GRCm39) |
T123A |
probably damaging |
Het |
| Vmn1r204 |
T |
G |
13: 22,740,867 (GRCm39) |
F166C |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,369,370 (GRCm39) |
I68V |
probably benign |
Het |
| Wls |
C |
T |
3: 159,603,082 (GRCm39) |
T165I |
probably benign |
Het |
| Wsb1 |
A |
G |
11: 79,131,199 (GRCm39) |
M399T |
probably benign |
Het |
| Xbp1 |
C |
T |
11: 5,471,167 (GRCm39) |
T58M |
probably damaging |
Het |
| Zbtb46 |
A |
T |
2: 181,032,929 (GRCm39) |
D577E |
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,382,991 (GRCm39) |
D718G |
probably damaging |
Het |
| Zfp408 |
A |
T |
2: 91,475,369 (GRCm39) |
V595E |
possibly damaging |
Het |
| Zfp493 |
T |
A |
13: 67,934,322 (GRCm39) |
W60R |
probably null |
Het |
| Zfp606 |
A |
T |
7: 12,227,932 (GRCm39) |
K626N |
probably damaging |
Het |
| Zfp820 |
A |
T |
17: 22,037,966 (GRCm39) |
L454Q |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,830,169 (GRCm39) |
I515V |
probably benign |
Het |
|
| Other mutations in Atr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00640:Atr
|
APN |
9 |
95,747,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00922:Atr
|
APN |
9 |
95,789,398 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01020:Atr
|
APN |
9 |
95,744,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01345:Atr
|
APN |
9 |
95,823,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01364:Atr
|
APN |
9 |
95,747,677 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01456:Atr
|
APN |
9 |
95,832,618 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01534:Atr
|
APN |
9 |
95,747,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01761:Atr
|
APN |
9 |
95,833,501 (GRCm39) |
splice site |
probably benign |
|
|
IGL01791:Atr
|
APN |
9 |
95,803,834 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01831:Atr
|
APN |
9 |
95,752,807 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01973:Atr
|
APN |
9 |
95,753,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Atr
|
APN |
9 |
95,763,473 (GRCm39) |
splice site |
probably benign |
|
|
IGL02016:Atr
|
APN |
9 |
95,809,228 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02035:Atr
|
APN |
9 |
95,748,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02058:Atr
|
APN |
9 |
95,753,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02081:Atr
|
APN |
9 |
95,765,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02224:Atr
|
APN |
9 |
95,760,682 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02234:Atr
|
APN |
9 |
95,829,303 (GRCm39) |
splice site |
probably benign |
|
|
IGL02367:Atr
|
APN |
9 |
95,781,194 (GRCm39) |
nonsense |
probably null |
|
|
IGL02621:Atr
|
APN |
9 |
95,790,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02728:Atr
|
APN |
9 |
95,818,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02833:Atr
|
APN |
9 |
95,744,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Atr
|
APN |
9 |
95,747,314 (GRCm39) |
missense |
probably benign |
|
|
IGL03107:Atr
|
APN |
9 |
95,779,783 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03382:Atr
|
APN |
9 |
95,802,875 (GRCm39) |
nonsense |
probably null |
|
|
PIT4812001:Atr
|
UTSW |
9 |
95,792,702 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0042:Atr
|
UTSW |
9 |
95,809,409 (GRCm39) |
splice site |
probably benign |
|
|
R0042:Atr
|
UTSW |
9 |
95,809,409 (GRCm39) |
splice site |
probably benign |
|
|
R0281:Atr
|
UTSW |
9 |
95,819,619 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0282:Atr
|
UTSW |
9 |
95,744,851 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0512:Atr
|
UTSW |
9 |
95,817,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0547:Atr
|
UTSW |
9 |
95,781,218 (GRCm39) |
splice site |
probably benign |
|
|
R0567:Atr
|
UTSW |
9 |
95,747,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0631:Atr
|
UTSW |
9 |
95,756,830 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1116:Atr
|
UTSW |
9 |
95,749,689 (GRCm39) |
nonsense |
probably null |
|
|
R1171:Atr
|
UTSW |
9 |
95,789,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1241:Atr
|
UTSW |
9 |
95,832,689 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1345:Atr
|
UTSW |
9 |
95,802,408 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1400:Atr
|
UTSW |
9 |
95,744,901 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1413:Atr
|
UTSW |
9 |
95,814,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1527:Atr
|
UTSW |
9 |
95,752,096 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1557:Atr
|
UTSW |
9 |
95,753,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:Atr
|
UTSW |
9 |
95,827,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1602:Atr
|
UTSW |
9 |
95,833,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:Atr
|
UTSW |
9 |
95,818,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Atr
|
UTSW |
9 |
95,743,509 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1709:Atr
|
UTSW |
9 |
95,753,129 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1728:Atr
|
UTSW |
9 |
95,779,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1729:Atr
|
UTSW |
9 |
95,779,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1739:Atr
|
UTSW |
9 |
95,779,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1816:Atr
|
UTSW |
9 |
95,748,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1824:Atr
|
UTSW |
9 |
95,818,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Atr
|
UTSW |
9 |
95,787,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1857:Atr
|
UTSW |
9 |
95,747,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Atr
|
UTSW |
9 |
95,747,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Atr
|
UTSW |
9 |
95,752,658 (GRCm39) |
splice site |
probably null |
|
|
R1913:Atr
|
UTSW |
9 |
95,748,786 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2042:Atr
|
UTSW |
9 |
95,752,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2210:Atr
|
UTSW |
9 |
95,789,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2230:Atr
|
UTSW |
9 |
95,802,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2361:Atr
|
UTSW |
9 |
95,753,210 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2399:Atr
|
UTSW |
9 |
95,753,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2431:Atr
|
UTSW |
9 |
95,744,945 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2860:Atr
|
UTSW |
9 |
95,756,296 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2861:Atr
|
UTSW |
9 |
95,756,296 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3019:Atr
|
UTSW |
9 |
95,787,871 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3684:Atr
|
UTSW |
9 |
95,802,453 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4155:Atr
|
UTSW |
9 |
95,770,177 (GRCm39) |
nonsense |
probably null |
|
|
R4295:Atr
|
UTSW |
9 |
95,756,479 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4359:Atr
|
UTSW |
9 |
95,833,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4506:Atr
|
UTSW |
9 |
95,747,290 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4523:Atr
|
UTSW |
9 |
95,744,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4536:Atr
|
UTSW |
9 |
95,756,471 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4588:Atr
|
UTSW |
9 |
95,747,720 (GRCm39) |
missense |
probably benign |
|
|
R4646:Atr
|
UTSW |
9 |
95,753,250 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4702:Atr
|
UTSW |
9 |
95,802,408 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4743:Atr
|
UTSW |
9 |
95,744,845 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4928:Atr
|
UTSW |
9 |
95,789,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5031:Atr
|
UTSW |
9 |
95,747,755 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5138:Atr
|
UTSW |
9 |
95,819,649 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5188:Atr
|
UTSW |
9 |
95,803,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5219:Atr
|
UTSW |
9 |
95,763,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5307:Atr
|
UTSW |
9 |
95,760,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5414:Atr
|
UTSW |
9 |
95,752,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5628:Atr
|
UTSW |
9 |
95,756,279 (GRCm39) |
nonsense |
probably null |
|
|
R5664:Atr
|
UTSW |
9 |
95,787,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5678:Atr
|
UTSW |
9 |
95,833,540 (GRCm39) |
nonsense |
probably null |
|
|
R5724:Atr
|
UTSW |
9 |
95,748,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5759:Atr
|
UTSW |
9 |
95,756,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5763:Atr
|
UTSW |
9 |
95,827,176 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5922:Atr
|
UTSW |
9 |
95,785,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6051:Atr
|
UTSW |
9 |
95,790,422 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6161:Atr
|
UTSW |
9 |
95,747,372 (GRCm39) |
missense |
probably benign |
|
|
R6171:Atr
|
UTSW |
9 |
95,763,324 (GRCm39) |
nonsense |
probably null |
|
|
R6532:Atr
|
UTSW |
9 |
95,790,461 (GRCm39) |
missense |
probably benign |
|
|
R6774:Atr
|
UTSW |
9 |
95,809,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6894:Atr
|
UTSW |
9 |
95,809,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Atr
|
UTSW |
9 |
95,748,688 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7018:Atr
|
UTSW |
9 |
95,748,747 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7056:Atr
|
UTSW |
9 |
95,744,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7103:Atr
|
UTSW |
9 |
95,747,425 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7154:Atr
|
UTSW |
9 |
95,747,098 (GRCm39) |
missense |
probably benign |
|
|
R7157:Atr
|
UTSW |
9 |
95,751,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7188:Atr
|
UTSW |
9 |
95,744,844 (GRCm39) |
nonsense |
probably null |
|
|
R7189:Atr
|
UTSW |
9 |
95,744,844 (GRCm39) |
nonsense |
probably null |
|
|
R7300:Atr
|
UTSW |
9 |
95,747,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7337:Atr
|
UTSW |
9 |
95,753,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7584:Atr
|
UTSW |
9 |
95,824,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7602:Atr
|
UTSW |
9 |
95,789,436 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7633:Atr
|
UTSW |
9 |
95,829,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7640:Atr
|
UTSW |
9 |
95,789,346 (GRCm39) |
splice site |
probably null |
|
|
R7677:Atr
|
UTSW |
9 |
95,767,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Atr
|
UTSW |
9 |
95,757,743 (GRCm39) |
nonsense |
probably null |
|
|
R7700:Atr
|
UTSW |
9 |
95,757,743 (GRCm39) |
nonsense |
probably null |
|
|
R7790:Atr
|
UTSW |
9 |
95,756,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Atr
|
UTSW |
9 |
95,747,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8147:Atr
|
UTSW |
9 |
95,781,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8204:Atr
|
UTSW |
9 |
95,817,566 (GRCm39) |
missense |
|
|
|
R8306:Atr
|
UTSW |
9 |
95,802,423 (GRCm39) |
missense |
|
|
|
R8462:Atr
|
UTSW |
9 |
95,749,579 (GRCm39) |
missense |
probably benign |
|
|
R8716:Atr
|
UTSW |
9 |
95,789,468 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8748:Atr
|
UTSW |
9 |
95,814,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8795:Atr
|
UTSW |
9 |
95,749,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8891:Atr
|
UTSW |
9 |
95,787,813 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8976:Atr
|
UTSW |
9 |
95,772,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9024:Atr
|
UTSW |
9 |
95,789,416 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9116:Atr
|
UTSW |
9 |
95,747,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9523:Atr
|
UTSW |
9 |
95,792,610 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9524:Atr
|
UTSW |
9 |
95,792,610 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9525:Atr
|
UTSW |
9 |
95,792,610 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9527:Atr
|
UTSW |
9 |
95,767,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Atr
|
UTSW |
9 |
95,802,833 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9629:Atr
|
UTSW |
9 |
95,747,098 (GRCm39) |
missense |
probably benign |
|
|
R9642:Atr
|
UTSW |
9 |
95,821,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Atr
|
UTSW |
9 |
95,756,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Atr
|
UTSW |
9 |
95,797,050 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9678:Atr
|
UTSW |
9 |
95,792,610 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9728:Atr
|
UTSW |
9 |
95,797,050 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9731:Atr
|
UTSW |
9 |
95,747,092 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9732:Atr
|
UTSW |
9 |
95,743,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Atr
|
UTSW |
9 |
95,819,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0019:Atr
|
UTSW |
9 |
95,822,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Atr
|
UTSW |
9 |
95,767,373 (GRCm39) |
splice site |
probably null |
|
|
Z1177:Atr
|
UTSW |
9 |
95,770,153 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCTGTGGAGCTTCCTGG -3'
(R):5'- GCAAATATGACTTGTGGGAGC -3'
Sequencing Primer
(F):5'- CAGCCTGGTCTACAAAGTGAGTTC -3'
(R):5'- TGTGATATTCAGAAAAGCAGCAAAG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation