Incidental Mutation 'R0109:Atrnl1'
ID |
17377 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atrnl1
|
Ensembl Gene |
ENSMUSG00000054843 |
Gene Name |
attractin like 1 |
Synonyms |
Alp |
MMRRC Submission |
038395-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R0109 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
57599466-58121775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57743949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 1184
(Y1184N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077282]
|
AlphaFold |
Q6A051 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077282
AA Change: Y1184N
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000076514 Gene: ENSMUSG00000054843 AA Change: Y1184N
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 |
0.1931 |
Coding Region Coverage |
- 1x: 90.6%
- 3x: 88.5%
- 10x: 83.8%
- 20x: 77.5%
|
Validation Efficiency |
90% (95/106) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
A |
6: 121,636,262 (GRCm39) |
H710Q |
probably benign |
Het |
Abca14 |
A |
T |
7: 119,917,985 (GRCm39) |
K1496* |
probably null |
Het |
Anapc1 |
C |
A |
2: 128,476,613 (GRCm39) |
R1335L |
probably damaging |
Het |
Arhgef10l |
A |
T |
4: 140,305,605 (GRCm39) |
S203T |
probably benign |
Het |
Astn1 |
C |
T |
1: 158,491,674 (GRCm39) |
T41I |
possibly damaging |
Het |
Avil |
A |
G |
10: 126,849,513 (GRCm39) |
N603S |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,421,916 (GRCm39) |
D149G |
possibly damaging |
Het |
Car14 |
C |
A |
3: 95,806,763 (GRCm39) |
A234S |
probably benign |
Het |
Cep164 |
A |
C |
9: 45,682,885 (GRCm39) |
L935R |
probably damaging |
Het |
Cps1 |
T |
C |
1: 67,268,577 (GRCm39) |
V1435A |
possibly damaging |
Het |
Csmd2 |
T |
G |
4: 128,438,536 (GRCm39) |
S3038R |
probably benign |
Het |
Cyp2j6 |
A |
T |
4: 96,406,394 (GRCm39) |
I459N |
probably damaging |
Het |
Cyth1 |
T |
C |
11: 118,073,132 (GRCm39) |
E242G |
probably damaging |
Het |
Dclk3 |
T |
G |
9: 111,296,738 (GRCm39) |
L94R |
possibly damaging |
Het |
Disp2 |
T |
C |
2: 118,622,297 (GRCm39) |
S1010P |
probably damaging |
Het |
Dlec1 |
G |
A |
9: 118,934,892 (GRCm39) |
R145H |
probably damaging |
Het |
Dsg3 |
T |
C |
18: 20,673,191 (GRCm39) |
V954A |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,111,487 (GRCm39) |
D309V |
probably damaging |
Het |
Fam13b |
A |
G |
18: 34,584,361 (GRCm39) |
I601T |
probably benign |
Het |
Fgd5 |
T |
A |
6: 91,965,216 (GRCm39) |
M325K |
possibly damaging |
Het |
Frmpd1 |
A |
T |
4: 45,279,340 (GRCm39) |
E688D |
probably benign |
Het |
Gabrb1 |
C |
T |
5: 72,279,289 (GRCm39) |
|
probably benign |
Het |
Gm6590 |
A |
T |
6: 130,461,869 (GRCm39) |
|
noncoding transcript |
Het |
Gse1 |
T |
A |
8: 121,294,524 (GRCm39) |
S284T |
probably damaging |
Het |
Ipo13 |
C |
T |
4: 117,762,213 (GRCm39) |
R387Q |
possibly damaging |
Het |
Kctd16 |
A |
G |
18: 40,392,204 (GRCm39) |
E264G |
probably benign |
Het |
Krt73 |
A |
T |
15: 101,704,830 (GRCm39) |
L352* |
probably null |
Het |
Mapk15 |
A |
T |
15: 75,867,926 (GRCm39) |
K153* |
probably null |
Het |
Mcemp1 |
C |
A |
8: 3,717,055 (GRCm39) |
Y65* |
probably null |
Het |
Mcoln2 |
C |
G |
3: 145,881,473 (GRCm39) |
R210G |
probably damaging |
Het |
Miox |
G |
A |
15: 89,219,784 (GRCm39) |
V91I |
probably benign |
Het |
Myh7b |
A |
G |
2: 155,453,594 (GRCm39) |
E6G |
possibly damaging |
Het |
Ncapg |
A |
G |
5: 45,851,090 (GRCm39) |
|
probably null |
Het |
Nfyb |
G |
A |
10: 82,590,836 (GRCm39) |
A65V |
possibly damaging |
Het |
Or4a69 |
A |
G |
2: 89,313,147 (GRCm39) |
F111L |
probably benign |
Het |
Or52d1 |
T |
C |
7: 103,755,812 (GRCm39) |
S109P |
probably damaging |
Het |
Or5b94 |
C |
A |
19: 12,652,224 (GRCm39) |
F218L |
probably benign |
Het |
Osbp2 |
A |
C |
11: 3,661,791 (GRCm39) |
S754A |
probably benign |
Het |
Pard3 |
C |
T |
8: 128,125,147 (GRCm39) |
R712C |
probably damaging |
Het |
Parp9 |
T |
C |
16: 35,768,711 (GRCm39) |
I64T |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,710,974 (GRCm39) |
H81Q |
possibly damaging |
Het |
Pcnt |
G |
A |
10: 76,225,030 (GRCm39) |
P1825S |
probably benign |
Het |
Pfkfb4 |
T |
C |
9: 108,827,957 (GRCm39) |
V43A |
probably benign |
Het |
Pgap1 |
A |
T |
1: 54,533,984 (GRCm39) |
V643E |
probably damaging |
Het |
Pip5k1a |
T |
C |
3: 94,972,753 (GRCm39) |
T433A |
probably benign |
Het |
Pip5k1b |
T |
A |
19: 24,356,411 (GRCm39) |
M176L |
probably benign |
Het |
Polg2 |
T |
C |
11: 106,667,958 (GRCm39) |
|
probably benign |
Het |
Pomp |
T |
A |
5: 147,812,323 (GRCm39) |
H136Q |
probably benign |
Het |
Ppfia4 |
A |
T |
1: 134,251,955 (GRCm39) |
|
probably null |
Het |
Prdx2 |
G |
A |
8: 85,696,880 (GRCm39) |
G4S |
probably benign |
Het |
Rbm28 |
C |
T |
6: 29,160,104 (GRCm39) |
G70D |
probably benign |
Het |
Rdh10 |
T |
A |
1: 16,176,489 (GRCm39) |
I83N |
probably damaging |
Het |
Rin3 |
A |
G |
12: 102,279,340 (GRCm39) |
I50V |
possibly damaging |
Het |
Rnf122 |
T |
C |
8: 31,614,877 (GRCm39) |
|
probably benign |
Het |
Sik2 |
A |
G |
9: 50,810,775 (GRCm39) |
M447T |
possibly damaging |
Het |
Sla2 |
A |
G |
2: 156,725,507 (GRCm39) |
|
probably null |
Het |
Slc51a |
T |
A |
16: 32,296,425 (GRCm39) |
I192L |
probably benign |
Het |
Sorcs1 |
T |
C |
19: 50,367,329 (GRCm39) |
|
probably benign |
Het |
Spata16 |
T |
A |
3: 26,967,416 (GRCm39) |
F389I |
probably damaging |
Het |
Srebf1 |
G |
A |
11: 60,092,630 (GRCm39) |
A793V |
probably benign |
Het |
Tbc1d9b |
T |
C |
11: 50,049,261 (GRCm39) |
V736A |
probably benign |
Het |
Tbx15 |
C |
A |
3: 99,259,182 (GRCm39) |
T351N |
possibly damaging |
Het |
Tep1 |
A |
G |
14: 51,089,373 (GRCm39) |
|
probably null |
Het |
Tmed11 |
T |
A |
5: 108,925,278 (GRCm39) |
D178V |
probably damaging |
Het |
Traf7 |
A |
G |
17: 24,732,900 (GRCm39) |
F110L |
probably benign |
Het |
Ubqlnl |
C |
T |
7: 103,799,399 (GRCm39) |
V33M |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,826,192 (GRCm39) |
|
probably null |
Het |
Vmn1r194 |
A |
G |
13: 22,429,217 (GRCm39) |
Y278C |
probably damaging |
Het |
Vmn1r46 |
T |
C |
6: 89,954,044 (GRCm39) |
F298L |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,572,265 (GRCm39) |
T961A |
probably benign |
Het |
Wdr48 |
G |
A |
9: 119,747,634 (GRCm39) |
|
probably benign |
Het |
Wwp1 |
G |
A |
4: 19,641,725 (GRCm39) |
|
probably benign |
Het |
Zfp1001 |
A |
T |
2: 150,165,761 (GRCm39) |
|
probably benign |
Het |
Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
Zfp839 |
G |
A |
12: 110,827,308 (GRCm39) |
E400K |
possibly damaging |
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 |
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 |
R7632:Atrnl1
|
UTSW |
19 |
57,618,738 (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 |
|
Posted On |
2013-01-31 |