Incidental Mutation 'R7632:Atrnl1'
| ID |
589731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atrnl1
|
| Ensembl Gene |
ENSMUSG00000054843 |
| Gene Name |
attractin like 1 |
| Synonyms |
Alp |
| MMRRC Submission |
045720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R7632 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
57599466-58121775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57618738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 152
(D152G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077282]
|
| AlphaFold |
Q6A051 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077282
AA Change: D152G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000076514
Gene: ENSMUSG00000054843
AA Change: D152G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
32 |
N/A |
INTRINSIC |
|
EGF
|
61 |
90 |
5.71e-1 |
SMART |
|
CUB
|
92 |
208 |
1.43e-11 |
SMART |
|
EGF
|
209 |
244 |
1.95e1 |
SMART |
|
Pfam:EGF_2
|
248 |
279 |
5.8e-7 |
PFAM |
|
Pfam:Kelch_5
|
350 |
391 |
2.1e-9 |
PFAM |
|
Pfam:Kelch_6
|
354 |
401 |
5.8e-8 |
PFAM |
|
Pfam:Kelch_4
|
465 |
517 |
4.3e-7 |
PFAM |
|
Pfam:Kelch_1
|
519 |
573 |
2.7e-6 |
PFAM |
|
PSI
|
613 |
656 |
3.38e-1 |
SMART |
|
PSI
|
665 |
708 |
2e-3 |
SMART |
|
PSI
|
714 |
759 |
1.72e-2 |
SMART |
|
CLECT
|
747 |
872 |
2.86e-20 |
SMART |
|
PSI
|
888 |
938 |
6.26e-5 |
SMART |
|
PSI
|
941 |
1011 |
1.73e-7 |
SMART |
|
EGF_Lam
|
1013 |
1056 |
1.07e-5 |
SMART |
|
low complexity region
|
1157 |
1173 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1229 |
1251 |
N/A |
INTRINSIC |
|
low complexity region
|
1261 |
1272 |
N/A |
INTRINSIC |
|
low complexity region
|
1326 |
1339 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2013 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
95% (63/66) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit normal coat coloring and normal brain morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2a2 |
A |
G |
7: 141,211,236 (GRCm39) |
D924G |
probably benign |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| B3gnt8 |
A |
G |
7: 25,327,860 (GRCm39) |
I97V |
possibly damaging |
Het |
| Bach1 |
A |
G |
16: 87,517,031 (GRCm39) |
D524G |
probably benign |
Het |
| Caprin2 |
T |
C |
6: 148,784,954 (GRCm39) |
S107G |
probably damaging |
Het |
| Ccnb1 |
A |
G |
13: 100,918,209 (GRCm39) |
I207T |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,400,515 (GRCm39) |
D151G |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,851,115 (GRCm39) |
|
probably null |
Het |
| Cep83 |
A |
T |
10: 94,586,502 (GRCm39) |
R433W |
probably damaging |
Het |
| Cspg4b |
C |
A |
13: 113,457,420 (GRCm39) |
S1155R |
|
Het |
| D3Ertd751e |
A |
G |
3: 41,708,163 (GRCm39) |
E100G |
probably benign |
Het |
| Dchs2 |
C |
T |
3: 83,255,357 (GRCm39) |
A2351V |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,690,263 (GRCm39) |
T253A |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,036,680 (GRCm39) |
D228G |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,627,327 (GRCm39) |
M4002T |
probably benign |
Het |
| Flcn |
C |
T |
11: 59,686,625 (GRCm39) |
W376* |
probably null |
Het |
| Flnc |
A |
T |
6: 29,446,984 (GRCm39) |
Y1037F |
probably damaging |
Het |
| Fut11 |
T |
A |
14: 20,745,096 (GRCm39) |
V9E |
probably benign |
Het |
| Fv1 |
T |
A |
4: 147,954,392 (GRCm39) |
N319K |
possibly damaging |
Het |
| Ghrhr |
G |
T |
6: 55,361,727 (GRCm39) |
G298V |
probably benign |
Het |
| Gm5800 |
T |
A |
14: 51,953,905 (GRCm39) |
|
probably null |
Het |
| Grin2b |
A |
G |
6: 135,709,553 (GRCm39) |
M1331T |
probably benign |
Het |
| Hyou1 |
A |
G |
9: 44,292,433 (GRCm39) |
|
probably null |
Het |
| Igkv1-117 |
C |
A |
6: 68,098,792 (GRCm39) |
Q114K |
probably damaging |
Het |
| Igkv4-68 |
A |
G |
6: 69,282,048 (GRCm39) |
V41A |
possibly damaging |
Het |
| Inpp4b |
A |
G |
8: 82,772,968 (GRCm39) |
N754S |
probably damaging |
Het |
| Isl2 |
G |
A |
9: 55,448,440 (GRCm39) |
|
probably null |
Het |
| Kat2a |
G |
A |
11: 100,599,422 (GRCm39) |
Q523* |
probably null |
Het |
| Lypd3 |
T |
C |
7: 24,337,865 (GRCm39) |
F77S |
possibly damaging |
Het |
| Map4k2 |
T |
C |
19: 6,394,084 (GRCm39) |
L297P |
probably benign |
Het |
| Naca |
T |
C |
10: 127,876,375 (GRCm39) |
V469A |
unknown |
Het |
| Notch3 |
C |
T |
17: 32,377,480 (GRCm39) |
V199I |
probably benign |
Het |
| Or4k44 |
T |
C |
2: 111,368,521 (GRCm39) |
I38V |
possibly damaging |
Het |
| Or5b119 |
T |
C |
19: 13,456,795 (GRCm39) |
M256V |
possibly damaging |
Het |
| Pabpc1 |
TGTACCTGTTGCATGGTA |
TGTA |
15: 36,598,212 (GRCm39) |
|
probably null |
Het |
| Pcdhb8 |
A |
T |
18: 37,488,648 (GRCm39) |
I109L |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,133,801 (GRCm39) |
D104G |
possibly damaging |
Het |
| Phip |
A |
G |
9: 82,785,243 (GRCm39) |
V824A |
probably benign |
Het |
| Plekhg4 |
T |
C |
8: 106,106,782 (GRCm39) |
Y853H |
probably damaging |
Het |
| Plod1 |
T |
C |
4: 148,011,481 (GRCm39) |
K248R |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,953,600 (GRCm39) |
Y656N |
probably benign |
Het |
| Pogz |
G |
A |
3: 94,763,517 (GRCm39) |
|
probably null |
Het |
| Ppp1r3e |
T |
A |
14: 55,114,526 (GRCm39) |
S79C |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,060,721 (GRCm39) |
D1595E |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,547,783 (GRCm39) |
V205A |
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,116 (GRCm39) |
V346A |
possibly damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,934 (GRCm39) |
L239H |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,385,727 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACCGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scaf1 |
A |
T |
7: 44,656,503 (GRCm39) |
V792D |
unknown |
Het |
| Scrn2 |
G |
T |
11: 96,923,968 (GRCm39) |
R284L |
possibly damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,423,948 (GRCm39) |
Q461L |
possibly damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,702,080 (GRCm39) |
T434A |
probably benign |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Smc4 |
CTA |
CTATA |
3: 68,925,400 (GRCm39) |
|
probably benign |
Het |
| Snx33 |
A |
T |
9: 56,833,702 (GRCm39) |
D122E |
probably damaging |
Het |
| Srebf2 |
G |
T |
15: 82,069,497 (GRCm39) |
V680L |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Tecpr1 |
C |
T |
5: 144,155,544 (GRCm39) |
V5M |
probably benign |
Het |
| Tfg |
A |
G |
16: 56,532,997 (GRCm39) |
V54A |
possibly damaging |
Het |
| Tmem237 |
C |
T |
1: 59,156,060 (GRCm39) |
C30Y |
probably benign |
Het |
| Tmem245 |
T |
C |
4: 56,916,787 (GRCm39) |
K444R |
probably benign |
Het |
| Trim25 |
T |
G |
11: 88,906,602 (GRCm39) |
L446R |
probably null |
Het |
| Usp37 |
T |
C |
1: 74,507,533 (GRCm39) |
T495A |
probably benign |
Het |
| Vmn1r94 |
T |
G |
7: 19,901,696 (GRCm39) |
T203P |
probably damaging |
Het |
| Ywhah |
T |
A |
5: 33,184,010 (GRCm39) |
M71K |
probably benign |
Het |
|
| Other mutations in Atrnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Atrnl1
|
APN |
19 |
57,680,249 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00707:Atrnl1
|
APN |
19 |
57,661,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00921:Atrnl1
|
APN |
19 |
57,690,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01410:Atrnl1
|
APN |
19 |
58,119,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01468:Atrnl1
|
APN |
19 |
57,688,144 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01756:Atrnl1
|
APN |
19 |
57,641,380 (GRCm39) |
missense |
probably benign |
|
|
IGL01971:Atrnl1
|
APN |
19 |
57,741,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02019:Atrnl1
|
APN |
19 |
57,680,195 (GRCm39) |
splice site |
probably benign |
|
|
IGL02580:Atrnl1
|
APN |
19 |
57,703,008 (GRCm39) |
splice site |
probably benign |
|
|
IGL02649:Atrnl1
|
APN |
19 |
57,638,873 (GRCm39) |
splice site |
probably benign |
|
|
IGL02676:Atrnl1
|
APN |
19 |
57,680,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03276:Atrnl1
|
APN |
19 |
57,641,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03379:Atrnl1
|
APN |
19 |
57,630,973 (GRCm39) |
missense |
probably benign |
0.02 |
|
Magnetogorsk
|
UTSW |
19 |
57,618,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
polar
|
UTSW |
19 |
57,641,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4812001:Atrnl1
|
UTSW |
19 |
57,720,055 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0109:Atrnl1
|
UTSW |
19 |
57,743,949 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0308:Atrnl1
|
UTSW |
19 |
57,741,720 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0394:Atrnl1
|
UTSW |
19 |
57,661,608 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0734:Atrnl1
|
UTSW |
19 |
57,643,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0811:Atrnl1
|
UTSW |
19 |
57,661,573 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0812:Atrnl1
|
UTSW |
19 |
57,661,573 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1183:Atrnl1
|
UTSW |
19 |
57,638,725 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1213:Atrnl1
|
UTSW |
19 |
57,626,894 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1344:Atrnl1
|
UTSW |
19 |
57,924,137 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1418:Atrnl1
|
UTSW |
19 |
57,924,137 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1707:Atrnl1
|
UTSW |
19 |
57,675,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1748:Atrnl1
|
UTSW |
19 |
57,703,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2051:Atrnl1
|
UTSW |
19 |
57,680,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2113:Atrnl1
|
UTSW |
19 |
57,744,048 (GRCm39) |
nonsense |
probably null |
|
|
R2130:Atrnl1
|
UTSW |
19 |
57,643,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3710:Atrnl1
|
UTSW |
19 |
57,645,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3916:Atrnl1
|
UTSW |
19 |
57,924,084 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4524:Atrnl1
|
UTSW |
19 |
57,618,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Atrnl1
|
UTSW |
19 |
57,617,590 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4712:Atrnl1
|
UTSW |
19 |
57,641,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4784:Atrnl1
|
UTSW |
19 |
57,617,590 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4785:Atrnl1
|
UTSW |
19 |
57,617,590 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4798:Atrnl1
|
UTSW |
19 |
58,030,793 (GRCm39) |
missense |
probably benign |
|
|
R5172:Atrnl1
|
UTSW |
19 |
57,673,945 (GRCm39) |
nonsense |
probably null |
|
|
R5226:Atrnl1
|
UTSW |
19 |
57,638,767 (GRCm39) |
missense |
probably benign |
|
|
R5289:Atrnl1
|
UTSW |
19 |
57,645,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Atrnl1
|
UTSW |
19 |
57,743,968 (GRCm39) |
missense |
probably benign |
|
|
R5737:Atrnl1
|
UTSW |
19 |
57,766,320 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5782:Atrnl1
|
UTSW |
19 |
57,741,718 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5826:Atrnl1
|
UTSW |
19 |
57,618,724 (GRCm39) |
nonsense |
probably null |
|
|
R6169:Atrnl1
|
UTSW |
19 |
57,630,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6242:Atrnl1
|
UTSW |
19 |
57,630,910 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6342:Atrnl1
|
UTSW |
19 |
57,626,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Atrnl1
|
UTSW |
19 |
57,638,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6811:Atrnl1
|
UTSW |
19 |
57,643,393 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6897:Atrnl1
|
UTSW |
19 |
58,030,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7024:Atrnl1
|
UTSW |
19 |
57,626,882 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7085:Atrnl1
|
UTSW |
19 |
57,680,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Atrnl1
|
UTSW |
19 |
58,030,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:Atrnl1
|
UTSW |
19 |
57,924,038 (GRCm39) |
nonsense |
probably null |
|
|
R7289:Atrnl1
|
UTSW |
19 |
57,638,846 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7310:Atrnl1
|
UTSW |
19 |
57,630,856 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7372:Atrnl1
|
UTSW |
19 |
57,924,078 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7432:Atrnl1
|
UTSW |
19 |
57,743,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7478:Atrnl1
|
UTSW |
19 |
57,684,744 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7556:Atrnl1
|
UTSW |
19 |
57,643,278 (GRCm39) |
missense |
probably benign |
|
|
R7567:Atrnl1
|
UTSW |
19 |
57,687,955 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7608:Atrnl1
|
UTSW |
19 |
57,703,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7655:Atrnl1
|
UTSW |
19 |
57,599,811 (GRCm39) |
nonsense |
probably null |
|
|
R7656:Atrnl1
|
UTSW |
19 |
57,599,811 (GRCm39) |
nonsense |
probably null |
|
|
R7718:Atrnl1
|
UTSW |
19 |
57,728,615 (GRCm39) |
nonsense |
probably null |
|
|
R7721:Atrnl1
|
UTSW |
19 |
57,684,763 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7726:Atrnl1
|
UTSW |
19 |
57,690,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Atrnl1
|
UTSW |
19 |
57,690,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7774:Atrnl1
|
UTSW |
19 |
57,688,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Atrnl1
|
UTSW |
19 |
57,670,878 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8119:Atrnl1
|
UTSW |
19 |
57,630,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9242:Atrnl1
|
UTSW |
19 |
57,645,660 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9265:Atrnl1
|
UTSW |
19 |
57,766,359 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9272:Atrnl1
|
UTSW |
19 |
57,643,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9480:Atrnl1
|
UTSW |
19 |
57,690,420 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9526:Atrnl1
|
UTSW |
19 |
57,617,551 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9672:Atrnl1
|
UTSW |
19 |
57,618,695 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9673:Atrnl1
|
UTSW |
19 |
57,599,786 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
RF021:Atrnl1
|
UTSW |
19 |
57,630,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGAGAGAACGTATTCATGCTAG -3'
(R):5'- CGCGTTTACACTTAGGTTGAG -3'
Sequencing Primer
(F):5'- GACATCATATCAGTTTTTCCCTAGTG -3'
(R):5'- CACTTAGGTTGAGTCATAGTTCAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation