Incidental Mutation 'R1542:Rb1cc1'
| ID |
171773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rb1cc1
|
| Ensembl Gene |
ENSMUSG00000025907 |
| Gene Name |
RB1-inducible coiled-coil 1 |
| Synonyms |
Fip200, 2900055E04Rik, 5930404L04Rik, Cc1, LaXp180 |
| MMRRC Submission |
039581-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1542 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
6284858-6346599 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6314473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 382
(V382I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027040]
[ENSMUST00000162795]
|
| AlphaFold |
Q9ESK9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027040
AA Change: V382I
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027040
Gene: ENSMUSG00000025907
AA Change: V382I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1euvb_
|
1 |
51 |
7e-4 |
SMART |
|
Blast:UBQ
|
3 |
76 |
8e-12 |
BLAST |
|
low complexity region
|
471 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
653 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
674 |
N/A |
INTRINSIC |
|
coiled coil region
|
859 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
1033 |
1045 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1066 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
1159 |
1305 |
1e-3 |
SMART |
|
low complexity region
|
1374 |
1388 |
N/A |
INTRINSIC |
|
Pfam:ATG11
|
1447 |
1583 |
5.6e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159802
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161327
AA Change: V261I
|
| SMART Domains |
Protein: ENSMUSP00000125348
Gene: ENSMUSG00000025907
AA Change: V261I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
351 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
554 |
N/A |
INTRINSIC |
|
coiled coil region
|
738 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
913 |
925 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
946 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
1039 |
1174 |
3e-3 |
SMART |
|
low complexity region
|
1254 |
1268 |
N/A |
INTRINSIC |
|
Pfam:ATG11
|
1327 |
1463 |
6.7e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162257
|
| SMART Domains |
Protein: ENSMUSP00000125334
Gene: ENSMUSG00000025907
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
33 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
355 |
N/A |
INTRINSIC |
|
coiled coil region
|
363 |
483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162795
AA Change: V382I
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124676
Gene: ENSMUSG00000025907
AA Change: V382I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1euvb_
|
1 |
51 |
2e-4 |
SMART |
|
Blast:UBQ
|
3 |
76 |
4e-12 |
BLAST |
|
low complexity region
|
454 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
657 |
N/A |
INTRINSIC |
|
coiled coil region
|
842 |
865 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
| 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 interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality at mid/late gestation associated with heart failure and liver degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
G |
3: 124,208,055 (GRCm39) |
M208T |
possibly damaging |
Het |
| Acsbg2 |
T |
A |
17: 57,156,791 (GRCm39) |
I416F |
probably damaging |
Het |
| Adam6b |
G |
A |
12: 113,454,559 (GRCm39) |
D459N |
possibly damaging |
Het |
| Adprh |
A |
T |
16: 38,266,286 (GRCm39) |
D285E |
probably damaging |
Het |
| Aggf1 |
A |
T |
13: 95,507,450 (GRCm39) |
C112S |
probably benign |
Het |
| Als2cl |
T |
C |
9: 110,723,102 (GRCm39) |
V602A |
probably benign |
Het |
| Angptl2 |
G |
T |
2: 33,118,897 (GRCm39) |
V224F |
probably benign |
Het |
| Ap3b2 |
A |
T |
7: 81,127,825 (GRCm39) |
|
probably null |
Het |
| Aqp2 |
A |
C |
15: 99,481,723 (GRCm39) |
I206L |
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,315,998 (GRCm39) |
D930G |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,353,525 (GRCm39) |
M682L |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,360,054 (GRCm39) |
N1146S |
probably benign |
Het |
| Ccr4 |
G |
A |
9: 114,321,073 (GRCm39) |
H331Y |
probably benign |
Het |
| Cd33 |
A |
G |
7: 43,181,530 (GRCm39) |
L210P |
probably damaging |
Het |
| Cep85l |
T |
C |
10: 53,177,680 (GRCm39) |
E351G |
probably damaging |
Het |
| Cntn6 |
C |
A |
6: 104,825,061 (GRCm39) |
T867K |
probably damaging |
Het |
| Cpeb2 |
C |
T |
5: 43,443,218 (GRCm39) |
R970C |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,660,738 (GRCm39) |
I1693K |
possibly damaging |
Het |
| Ebf4 |
A |
T |
2: 130,207,418 (GRCm39) |
M621L |
probably benign |
Het |
| Elp4 |
G |
T |
2: 105,624,954 (GRCm39) |
T313N |
probably benign |
Het |
| Epas1 |
T |
A |
17: 87,131,918 (GRCm39) |
I373N |
possibly damaging |
Het |
| Etnk1 |
A |
T |
6: 143,126,367 (GRCm39) |
M71L |
probably benign |
Het |
| Fry |
C |
T |
5: 150,328,431 (GRCm39) |
T1257I |
probably benign |
Het |
| Gm21834 |
A |
G |
17: 58,048,946 (GRCm39) |
F90S |
possibly damaging |
Het |
| Gm8674 |
T |
A |
13: 50,054,039 (GRCm39) |
|
noncoding transcript |
Het |
| Gna11 |
T |
C |
10: 81,369,162 (GRCm39) |
T134A |
probably benign |
Het |
| Golga5 |
C |
T |
12: 102,440,979 (GRCm39) |
S238F |
probably damaging |
Het |
| Grin2a |
T |
A |
16: 9,397,067 (GRCm39) |
N1007Y |
probably damaging |
Het |
| H3c6 |
A |
G |
13: 23,746,338 (GRCm39) |
F68L |
probably damaging |
Het |
| Ifnar2 |
G |
A |
16: 91,196,153 (GRCm39) |
V253M |
possibly damaging |
Het |
| Insl5 |
A |
T |
4: 102,875,382 (GRCm39) |
S123T |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,395,320 (GRCm39) |
S474P |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,012 (GRCm39) |
H628R |
probably benign |
Het |
| L3mbtl2 |
G |
A |
15: 81,566,352 (GRCm39) |
D392N |
probably null |
Het |
| Lrp1b |
G |
T |
2: 41,013,724 (GRCm39) |
T1813K |
probably damaging |
Het |
| Map3k4 |
A |
G |
17: 12,454,793 (GRCm39) |
L1399P |
probably damaging |
Het |
| Mbtps1 |
A |
C |
8: 120,272,986 (GRCm39) |
|
probably null |
Het |
| Mettl25 |
A |
T |
10: 105,661,981 (GRCm39) |
S330T |
probably benign |
Het |
| Mical2 |
T |
C |
7: 111,908,675 (GRCm39) |
L211P |
probably damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,922,102 (GRCm39) |
S186R |
probably damaging |
Het |
| Mob3b |
C |
A |
4: 35,084,046 (GRCm39) |
V48L |
possibly damaging |
Het |
| Napsa |
A |
T |
7: 44,231,113 (GRCm39) |
H114L |
probably damaging |
Het |
| Nsmce4a |
A |
T |
7: 130,147,623 (GRCm39) |
|
probably null |
Het |
| Nup62 |
A |
G |
7: 44,479,353 (GRCm39) |
K456R |
possibly damaging |
Het |
| Nwd2 |
T |
A |
5: 63,964,318 (GRCm39) |
W1301R |
probably damaging |
Het |
| Oprm1 |
G |
T |
10: 6,738,960 (GRCm39) |
W29L |
probably damaging |
Het |
| Or10al2 |
A |
T |
17: 37,983,142 (GRCm39) |
E76V |
probably damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,978 (GRCm39) |
S251R |
probably damaging |
Het |
| Or2c1 |
T |
A |
16: 3,657,696 (GRCm39) |
N286K |
probably damaging |
Het |
| Or5w17 |
A |
G |
2: 87,583,662 (GRCm39) |
V225A |
probably damaging |
Het |
| Pals2 |
A |
G |
6: 50,175,306 (GRCm39) |
Y539C |
probably damaging |
Het |
| Pcnt |
T |
G |
10: 76,225,221 (GRCm39) |
N1761T |
probably benign |
Het |
| Pcnt |
C |
T |
10: 76,237,220 (GRCm39) |
M1355I |
probably benign |
Het |
| Pde11a |
A |
T |
2: 75,877,199 (GRCm39) |
S757T |
probably benign |
Het |
| Pde6a |
T |
A |
18: 61,390,116 (GRCm39) |
I490N |
possibly damaging |
Het |
| Pgap1 |
A |
G |
1: 54,531,249 (GRCm39) |
V742A |
probably benign |
Het |
| Pik3c2b |
T |
C |
1: 133,017,772 (GRCm39) |
L915P |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,824,179 (GRCm39) |
C1129R |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,391,587 (GRCm39) |
H1551L |
probably benign |
Het |
| Plxnb2 |
C |
T |
15: 89,050,124 (GRCm39) |
C491Y |
probably damaging |
Het |
| Ppt1 |
C |
A |
4: 122,751,402 (GRCm39) |
H300N |
probably benign |
Het |
| Prpf3 |
T |
A |
3: 95,743,782 (GRCm39) |
Q457L |
probably benign |
Het |
| Ranbp17 |
C |
T |
11: 33,214,672 (GRCm39) |
V914I |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 157,003,421 (GRCm39) |
I413V |
possibly damaging |
Het |
| Rere |
T |
A |
4: 150,700,399 (GRCm39) |
F1125I |
probably damaging |
Het |
| Rprd2 |
A |
T |
3: 95,672,988 (GRCm39) |
V805E |
possibly damaging |
Het |
| Septin10 |
T |
G |
10: 59,002,428 (GRCm39) |
E162A |
probably damaging |
Het |
| Septin12 |
G |
T |
16: 4,810,159 (GRCm39) |
D125E |
probably benign |
Het |
| Serpina6 |
A |
G |
12: 103,620,732 (GRCm39) |
Y6H |
probably benign |
Het |
| Serpinb3c |
T |
C |
1: 107,200,517 (GRCm39) |
M209V |
probably damaging |
Het |
| Slc2a7 |
A |
T |
4: 150,252,928 (GRCm39) |
T523S |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,230,376 (GRCm39) |
V31A |
possibly damaging |
Het |
| Snrnp48 |
T |
C |
13: 38,404,680 (GRCm39) |
I245T |
probably damaging |
Het |
| Spink2 |
G |
A |
5: 77,354,812 (GRCm39) |
T33I |
probably damaging |
Het |
| Sptan1 |
A |
G |
2: 29,917,139 (GRCm39) |
T2204A |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,075,292 (GRCm39) |
D306G |
probably benign |
Het |
| Tas2r109 |
A |
G |
6: 132,957,873 (GRCm39) |
I19T |
possibly damaging |
Het |
| Tbk1 |
C |
T |
10: 121,395,840 (GRCm39) |
V418M |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,686,495 (GRCm39) |
E684G |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,191,047 (GRCm39) |
N308S |
probably damaging |
Het |
| Tfb2m |
A |
T |
1: 179,365,426 (GRCm39) |
|
probably null |
Het |
| Tmc1 |
T |
A |
19: 20,793,486 (GRCm39) |
L558F |
probably damaging |
Het |
| Tmprss5 |
T |
A |
9: 49,020,434 (GRCm39) |
I80N |
possibly damaging |
Het |
| Trappc2l |
G |
A |
8: 123,342,146 (GRCm39) |
V131M |
probably damaging |
Het |
| Trpm7 |
A |
C |
2: 126,664,519 (GRCm39) |
Y953* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,583,859 (GRCm39) |
R22383G |
probably damaging |
Het |
| Ugt1a6b |
G |
A |
1: 88,034,983 (GRCm39) |
G107D |
probably benign |
Het |
| Vmn1r197 |
A |
T |
13: 22,512,520 (GRCm39) |
Y147F |
probably benign |
Het |
| Zfp507 |
A |
T |
7: 35,494,226 (GRCm39) |
N272K |
possibly damaging |
Het |
| Zfp526 |
G |
A |
7: 24,925,687 (GRCm39) |
E649K |
probably benign |
Het |
| Zswim6 |
G |
A |
13: 107,863,769 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Rb1cc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00489:Rb1cc1
|
APN |
1 |
6,319,730 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00590:Rb1cc1
|
APN |
1 |
6,308,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00678:Rb1cc1
|
APN |
1 |
6,304,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00705:Rb1cc1
|
APN |
1 |
6,314,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00957:Rb1cc1
|
APN |
1 |
6,319,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01363:Rb1cc1
|
APN |
1 |
6,320,333 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01599:Rb1cc1
|
APN |
1 |
6,318,995 (GRCm39) |
nonsense |
probably null |
|
|
IGL01610:Rb1cc1
|
APN |
1 |
6,318,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01929:Rb1cc1
|
APN |
1 |
6,310,383 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01978:Rb1cc1
|
APN |
1 |
6,308,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02312:Rb1cc1
|
APN |
1 |
6,335,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02471:Rb1cc1
|
APN |
1 |
6,310,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02677:Rb1cc1
|
APN |
1 |
6,319,643 (GRCm39) |
missense |
probably benign |
|
|
IGL02702:Rb1cc1
|
APN |
1 |
6,310,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02816:Rb1cc1
|
APN |
1 |
6,333,052 (GRCm39) |
splice site |
probably benign |
|
|
IGL02899:Rb1cc1
|
APN |
1 |
6,334,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
fingerling
|
UTSW |
1 |
6,331,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tots
|
UTSW |
1 |
6,315,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02988:Rb1cc1
|
UTSW |
1 |
6,318,035 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0020:Rb1cc1
|
UTSW |
1 |
6,334,772 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0254:Rb1cc1
|
UTSW |
1 |
6,333,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Rb1cc1
|
UTSW |
1 |
6,318,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0466:Rb1cc1
|
UTSW |
1 |
6,333,491 (GRCm39) |
splice site |
probably null |
|
|
R0482:Rb1cc1
|
UTSW |
1 |
6,310,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Rb1cc1
|
UTSW |
1 |
6,319,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0512:Rb1cc1
|
UTSW |
1 |
6,318,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0616:Rb1cc1
|
UTSW |
1 |
6,314,486 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0617:Rb1cc1
|
UTSW |
1 |
6,319,014 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0837:Rb1cc1
|
UTSW |
1 |
6,304,495 (GRCm39) |
splice site |
probably null |
|
|
R1399:Rb1cc1
|
UTSW |
1 |
6,320,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1532:Rb1cc1
|
UTSW |
1 |
6,319,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1746:Rb1cc1
|
UTSW |
1 |
6,333,237 (GRCm39) |
splice site |
probably null |
|
|
R1764:Rb1cc1
|
UTSW |
1 |
6,284,904 (GRCm39) |
intron |
probably benign |
|
|
R1968:Rb1cc1
|
UTSW |
1 |
6,318,419 (GRCm39) |
splice site |
probably null |
|
|
R2025:Rb1cc1
|
UTSW |
1 |
6,315,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Rb1cc1
|
UTSW |
1 |
6,320,262 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2101:Rb1cc1
|
UTSW |
1 |
6,319,559 (GRCm39) |
missense |
probably benign |
|
|
R2249:Rb1cc1
|
UTSW |
1 |
6,342,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Rb1cc1
|
UTSW |
1 |
6,319,590 (GRCm39) |
missense |
probably benign |
|
|
R3276:Rb1cc1
|
UTSW |
1 |
6,319,590 (GRCm39) |
missense |
probably benign |
|
|
R3716:Rb1cc1
|
UTSW |
1 |
6,340,914 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3747:Rb1cc1
|
UTSW |
1 |
6,318,966 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3850:Rb1cc1
|
UTSW |
1 |
6,320,337 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3967:Rb1cc1
|
UTSW |
1 |
6,318,494 (GRCm39) |
splice site |
probably benign |
|
|
R3969:Rb1cc1
|
UTSW |
1 |
6,318,494 (GRCm39) |
splice site |
probably benign |
|
|
R3972:Rb1cc1
|
UTSW |
1 |
6,319,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4166:Rb1cc1
|
UTSW |
1 |
6,335,887 (GRCm39) |
intron |
probably benign |
|
|
R4168:Rb1cc1
|
UTSW |
1 |
6,300,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4358:Rb1cc1
|
UTSW |
1 |
6,315,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4370:Rb1cc1
|
UTSW |
1 |
6,318,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Rb1cc1
|
UTSW |
1 |
6,285,245 (GRCm39) |
intron |
probably benign |
|
|
R4945:Rb1cc1
|
UTSW |
1 |
6,319,851 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5111:Rb1cc1
|
UTSW |
1 |
6,284,858 (GRCm39) |
intron |
probably benign |
|
|
R5175:Rb1cc1
|
UTSW |
1 |
6,318,545 (GRCm39) |
missense |
probably benign |
|
|
R5196:Rb1cc1
|
UTSW |
1 |
6,304,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5271:Rb1cc1
|
UTSW |
1 |
6,319,417 (GRCm39) |
nonsense |
probably null |
|
|
R5341:Rb1cc1
|
UTSW |
1 |
6,285,266 (GRCm39) |
intron |
probably benign |
|
|
R5952:Rb1cc1
|
UTSW |
1 |
6,318,406 (GRCm39) |
missense |
probably benign |
|
|
R5992:Rb1cc1
|
UTSW |
1 |
6,304,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6054:Rb1cc1
|
UTSW |
1 |
6,320,058 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6064:Rb1cc1
|
UTSW |
1 |
6,319,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6313:Rb1cc1
|
UTSW |
1 |
6,314,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6345:Rb1cc1
|
UTSW |
1 |
6,333,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6488:Rb1cc1
|
UTSW |
1 |
6,340,951 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6566:Rb1cc1
|
UTSW |
1 |
6,319,316 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6739:Rb1cc1
|
UTSW |
1 |
6,304,454 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6829:Rb1cc1
|
UTSW |
1 |
6,319,488 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6945:Rb1cc1
|
UTSW |
1 |
6,331,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Rb1cc1
|
UTSW |
1 |
6,333,126 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7031:Rb1cc1
|
UTSW |
1 |
6,308,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7066:Rb1cc1
|
UTSW |
1 |
6,320,229 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7185:Rb1cc1
|
UTSW |
1 |
6,308,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7276:Rb1cc1
|
UTSW |
1 |
6,319,416 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7448:Rb1cc1
|
UTSW |
1 |
6,315,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7463:Rb1cc1
|
UTSW |
1 |
6,319,404 (GRCm39) |
missense |
probably benign |
|
|
R7484:Rb1cc1
|
UTSW |
1 |
6,344,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7496:Rb1cc1
|
UTSW |
1 |
6,318,415 (GRCm39) |
missense |
probably null |
0.02 |
|
R7618:Rb1cc1
|
UTSW |
1 |
6,335,782 (GRCm39) |
splice site |
probably null |
|
|
R7681:Rb1cc1
|
UTSW |
1 |
6,310,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Rb1cc1
|
UTSW |
1 |
6,318,309 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7780:Rb1cc1
|
UTSW |
1 |
6,319,138 (GRCm39) |
nonsense |
probably null |
|
|
R7947:Rb1cc1
|
UTSW |
1 |
6,318,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Rb1cc1
|
UTSW |
1 |
6,315,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Rb1cc1
|
UTSW |
1 |
6,333,448 (GRCm39) |
nonsense |
probably null |
|
|
R8527:Rb1cc1
|
UTSW |
1 |
6,315,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8758:Rb1cc1
|
UTSW |
1 |
6,310,451 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8843:Rb1cc1
|
UTSW |
1 |
6,315,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8922:Rb1cc1
|
UTSW |
1 |
6,319,194 (GRCm39) |
missense |
probably benign |
|
|
R8937:Rb1cc1
|
UTSW |
1 |
6,333,441 (GRCm39) |
missense |
probably benign |
|
|
R9018:Rb1cc1
|
UTSW |
1 |
6,319,490 (GRCm39) |
missense |
probably benign |
|
|
R9106:Rb1cc1
|
UTSW |
1 |
6,319,109 (GRCm39) |
missense |
|
|
|
R9127:Rb1cc1
|
UTSW |
1 |
6,333,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Rb1cc1
|
UTSW |
1 |
6,315,109 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9311:Rb1cc1
|
UTSW |
1 |
6,310,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9365:Rb1cc1
|
UTSW |
1 |
6,315,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9563:Rb1cc1
|
UTSW |
1 |
6,314,339 (GRCm39) |
missense |
probably benign |
|
|
R9598:Rb1cc1
|
UTSW |
1 |
6,310,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Rb1cc1
|
UTSW |
1 |
6,318,528 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9659:Rb1cc1
|
UTSW |
1 |
6,318,673 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9799:Rb1cc1
|
UTSW |
1 |
6,315,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Rb1cc1
|
UTSW |
1 |
6,319,242 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAAGAGTGGGTTTGTCATTAGCTCC -3'
(R):5'- AGGAAAACTCCAGTCCATCAAGTGTG -3'
Sequencing Primer
(F):5'- AACACCAGTTGTTTAGGATGGG -3'
(R):5'- TCCATCAAGTGTGACAAGCG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation