Incidental Mutation 'R5372:Atrnl1'
ID |
428838 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atrnl1
|
Ensembl Gene |
ENSMUSG00000054843 |
Gene Name |
attractin like 1 |
Synonyms |
Alp |
MMRRC Submission |
042948-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.182)
|
Stock # |
R5372 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
57599466-58121775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57743968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 1190
(Y1190C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077282]
|
AlphaFold |
Q6A051 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077282
AA Change: Y1190C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000076514 Gene: ENSMUSG00000054843 AA Change: Y1190C
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 |
0.0599 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
96% (89/93) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,848,988 (GRCm39) |
D108E |
probably damaging |
Het |
Abhd12b |
A |
G |
12: 70,227,800 (GRCm39) |
D194G |
probably damaging |
Het |
Adck5 |
A |
G |
15: 76,478,707 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
C |
T |
1: 25,167,940 (GRCm39) |
V792I |
probably benign |
Het |
Anxa8 |
G |
A |
14: 33,815,868 (GRCm39) |
V174M |
probably damaging |
Het |
Apol9b |
A |
T |
15: 77,619,920 (GRCm39) |
R239W |
probably benign |
Het |
Arhgap26 |
A |
G |
18: 38,775,509 (GRCm39) |
|
noncoding transcript |
Het |
Brinp3 |
T |
G |
1: 146,707,464 (GRCm39) |
L376R |
probably damaging |
Het |
Btbd2 |
A |
T |
10: 80,484,475 (GRCm39) |
M132K |
probably damaging |
Het |
C130073F10Rik |
A |
T |
4: 101,747,684 (GRCm39) |
I115K |
probably damaging |
Het |
C1ra |
T |
A |
6: 124,498,584 (GRCm39) |
Y426N |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,623,971 (GRCm39) |
V203E |
probably damaging |
Het |
Catsperg1 |
T |
A |
7: 28,910,137 (GRCm39) |
D68V |
probably benign |
Het |
Ccdc158 |
A |
C |
5: 92,780,419 (GRCm39) |
S885A |
possibly damaging |
Het |
Cdc42bpa |
T |
C |
1: 179,892,544 (GRCm39) |
V236A |
probably damaging |
Het |
Cdca7 |
A |
T |
2: 72,312,793 (GRCm39) |
E176D |
probably damaging |
Het |
Cdk17 |
A |
G |
10: 93,061,901 (GRCm39) |
D211G |
probably benign |
Het |
Clca3a2 |
A |
C |
3: 144,503,286 (GRCm39) |
M888R |
probably benign |
Het |
Clcn7 |
T |
A |
17: 25,376,153 (GRCm39) |
M568K |
possibly damaging |
Het |
Clip1 |
G |
T |
5: 123,768,303 (GRCm39) |
N811K |
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,585,648 (GRCm39) |
Y1243F |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,167,192 (GRCm39) |
D315E |
probably damaging |
Het |
Dgcr2 |
T |
C |
16: 17,690,508 (GRCm39) |
T41A |
probably benign |
Het |
Dync2h1 |
G |
A |
9: 7,176,962 (GRCm39) |
|
probably benign |
Het |
Ep300 |
A |
G |
15: 81,521,031 (GRCm39) |
I1264V |
unknown |
Het |
Fam167b |
A |
T |
4: 129,472,092 (GRCm39) |
L26Q |
possibly damaging |
Het |
Fam178b |
T |
A |
1: 36,603,929 (GRCm39) |
I457F |
possibly damaging |
Het |
Fgd4 |
A |
T |
16: 16,302,155 (GRCm39) |
N133K |
probably benign |
Het |
Fndc1 |
C |
G |
17: 7,984,042 (GRCm39) |
V1295L |
unknown |
Het |
Gad2 |
A |
T |
2: 22,580,255 (GRCm39) |
D552V |
possibly damaging |
Het |
Hars2 |
T |
C |
18: 36,923,534 (GRCm39) |
Y361H |
possibly damaging |
Het |
Heca |
T |
A |
10: 17,790,887 (GRCm39) |
S390C |
probably damaging |
Het |
Hephl1 |
G |
T |
9: 15,009,195 (GRCm39) |
Y132* |
probably null |
Het |
Hormad1 |
T |
A |
3: 95,483,735 (GRCm39) |
D182E |
probably damaging |
Het |
Ifna15 |
G |
A |
4: 88,476,338 (GRCm39) |
P49S |
probably damaging |
Het |
Khsrp |
T |
C |
17: 57,331,292 (GRCm39) |
T429A |
possibly damaging |
Het |
Magi2 |
A |
G |
5: 20,907,108 (GRCm39) |
Q1094R |
possibly damaging |
Het |
Map3k11 |
T |
A |
19: 5,740,990 (GRCm39) |
I239K |
probably damaging |
Het |
Mtus2 |
A |
G |
5: 148,250,222 (GRCm39) |
T1319A |
probably damaging |
Het |
Nup54 |
A |
G |
5: 92,565,716 (GRCm39) |
I406T |
probably damaging |
Het |
Nxpe2 |
T |
C |
9: 48,250,819 (GRCm39) |
T43A |
possibly damaging |
Het |
Nynrin |
A |
G |
14: 56,105,948 (GRCm39) |
E889G |
probably benign |
Het |
Opa1 |
A |
C |
16: 29,404,937 (GRCm39) |
H45P |
probably benign |
Het |
Or14c44 |
T |
A |
7: 86,062,176 (GRCm39) |
I202N |
possibly damaging |
Het |
Or4f60 |
A |
G |
2: 111,902,454 (GRCm39) |
I158T |
probably benign |
Het |
Or56b2j |
A |
G |
7: 104,353,002 (GRCm39) |
D76G |
probably benign |
Het |
Or8a1b |
T |
C |
9: 37,623,234 (GRCm39) |
M114V |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Papola |
A |
G |
12: 105,793,309 (GRCm39) |
K543R |
probably benign |
Het |
Plcxd3 |
G |
A |
15: 4,604,270 (GRCm39) |
V293I |
probably benign |
Het |
Polr2g |
T |
C |
19: 8,774,667 (GRCm39) |
Y72C |
probably damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,858,103 (GRCm39) |
K205E |
probably benign |
Het |
Ptpre |
A |
G |
7: 135,255,669 (GRCm39) |
K53E |
possibly damaging |
Het |
Rasal3 |
T |
C |
17: 32,610,318 (GRCm39) |
K990E |
probably benign |
Het |
Rgs3 |
A |
T |
4: 62,570,934 (GRCm39) |
|
probably benign |
Het |
Rhd |
A |
G |
4: 134,611,943 (GRCm39) |
T254A |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scube3 |
G |
T |
17: 28,371,456 (GRCm39) |
C57F |
probably damaging |
Het |
Sh2d5 |
A |
G |
4: 137,982,010 (GRCm39) |
D57G |
possibly damaging |
Het |
Slc12a6 |
T |
A |
2: 112,177,705 (GRCm39) |
L608* |
probably null |
Het |
Slk |
A |
T |
19: 47,613,832 (GRCm39) |
N896I |
probably damaging |
Het |
Smc6 |
A |
G |
12: 11,332,431 (GRCm39) |
D211G |
probably damaging |
Het |
Sox6 |
A |
T |
7: 115,149,386 (GRCm39) |
Y371* |
probably null |
Het |
Srcap |
G |
A |
7: 127,156,785 (GRCm39) |
|
probably null |
Het |
Stard5 |
T |
A |
7: 83,282,428 (GRCm39) |
D80E |
probably damaging |
Het |
Supv3l1 |
C |
T |
10: 62,268,136 (GRCm39) |
V570M |
probably damaging |
Het |
Syt7 |
G |
T |
19: 10,403,985 (GRCm39) |
V180L |
probably damaging |
Het |
Tacc2 |
T |
A |
7: 130,224,990 (GRCm39) |
H558Q |
probably benign |
Het |
Tas2r120 |
T |
A |
6: 132,634,446 (GRCm39) |
M176K |
possibly damaging |
Het |
Tmem135 |
A |
T |
7: 88,814,382 (GRCm39) |
|
probably null |
Het |
Trim35 |
T |
C |
14: 66,534,715 (GRCm39) |
V66A |
possibly damaging |
Het |
Tspan12 |
A |
G |
6: 21,772,698 (GRCm39) |
S284P |
probably benign |
Het |
Ttll3 |
A |
T |
6: 113,378,382 (GRCm39) |
K257* |
probably null |
Het |
Uggt1 |
C |
A |
1: 36,283,141 (GRCm39) |
|
probably benign |
Het |
Vmn2r7 |
T |
A |
3: 64,623,745 (GRCm39) |
I283F |
probably damaging |
Het |
Wdfy2 |
T |
G |
14: 63,192,334 (GRCm39) |
H363Q |
probably damaging |
Het |
Wdr4 |
T |
A |
17: 31,729,554 (GRCm39) |
K95N |
probably damaging |
Het |
Zfp141 |
T |
C |
7: 42,126,620 (GRCm39) |
N91S |
possibly damaging |
Het |
Zfp383 |
C |
T |
7: 29,614,695 (GRCm39) |
R317* |
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGATCAGCTGGTGTGGAGC -3'
(R):5'- ATGTCTTATGCAGGGCCTTG -3'
Sequencing Primer
(F):5'- AGCAGTTTGGGGATGATAGTC -3'
(R):5'- TTGCCATACAGGGAAATGAATAGGC -3'
|
Posted On |
2016-09-06 |