Incidental Mutation 'R0394:Atrnl1'
| ID |
31906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atrnl1
|
| Ensembl Gene |
ENSMUSG00000054843 |
| Gene Name |
attractin like 1 |
| Synonyms |
Alp |
| MMRRC Submission |
038600-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R0394 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
57599466-58121775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57661608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 529
(N529K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077282]
|
| AlphaFold |
Q6A051 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077282
AA Change: N529K
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000076514
Gene: ENSMUSG00000054843
AA Change: N529K
| 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 |
0.0995 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| Validation Efficiency |
99% (79/80) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
A |
3: 137,773,065 (GRCm39) |
S751R |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,917,169 (GRCm39) |
V1610A |
probably damaging |
Het |
| Actl10 |
A |
T |
2: 154,394,957 (GRCm39) |
H202L |
probably benign |
Het |
| Alox12 |
A |
T |
11: 70,136,761 (GRCm39) |
V489E |
probably damaging |
Het |
| Ap4m1 |
T |
A |
5: 138,170,465 (GRCm39) |
F5I |
probably benign |
Het |
| Atn1 |
T |
C |
6: 124,726,696 (GRCm39) |
|
probably benign |
Het |
| B3gntl1 |
C |
T |
11: 121,510,541 (GRCm39) |
G336D |
probably damaging |
Het |
| Bmp1 |
G |
A |
14: 70,727,474 (GRCm39) |
A703V |
probably damaging |
Het |
| Brat1 |
T |
G |
5: 140,704,141 (GRCm39) |
L798R |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,602,458 (GRCm39) |
G1302R |
probably damaging |
Het |
| Cdr2 |
A |
T |
7: 120,557,954 (GRCm39) |
D190E |
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,922,186 (GRCm39) |
|
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,728,635 (GRCm39) |
D687G |
probably benign |
Het |
| Coro1a |
A |
G |
7: 126,299,812 (GRCm39) |
F337L |
probably benign |
Het |
| Ddx49 |
T |
A |
8: 70,749,575 (GRCm39) |
I252F |
probably damaging |
Het |
| Dennd2a |
T |
A |
6: 39,499,746 (GRCm39) |
D273V |
possibly damaging |
Het |
| Derl2 |
A |
T |
11: 70,905,387 (GRCm39) |
F32I |
probably benign |
Het |
| Dmrta1 |
A |
G |
4: 89,580,276 (GRCm39) |
Y412C |
probably damaging |
Het |
| Dsg1a |
A |
G |
18: 20,466,807 (GRCm39) |
N559S |
probably damaging |
Het |
| Dusp26 |
G |
T |
8: 31,581,987 (GRCm39) |
R27L |
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,862,202 (GRCm39) |
I492T |
probably benign |
Het |
| Exoc7 |
G |
T |
11: 116,191,224 (GRCm39) |
Q219K |
probably damaging |
Het |
| F2r |
T |
C |
13: 95,740,984 (GRCm39) |
T184A |
probably damaging |
Het |
| Fbf1 |
G |
A |
11: 116,043,288 (GRCm39) |
|
probably benign |
Het |
| Fbxo28 |
A |
G |
1: 182,144,580 (GRCm39) |
M328T |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,821,419 (GRCm39) |
D5717E |
possibly damaging |
Het |
| Gnpat |
C |
A |
8: 125,606,964 (GRCm39) |
S373R |
possibly damaging |
Het |
| Golgb1 |
G |
T |
16: 36,695,941 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,523,374 (GRCm39) |
V844A |
probably damaging |
Het |
| Hps1 |
G |
T |
19: 42,759,338 (GRCm39) |
|
probably null |
Het |
| Inppl1 |
G |
T |
7: 101,477,402 (GRCm39) |
|
probably benign |
Het |
| Isca1 |
C |
T |
13: 59,906,699 (GRCm39) |
|
probably null |
Het |
| Itgb2 |
T |
A |
10: 77,378,309 (GRCm39) |
C46S |
probably damaging |
Het |
| Kifc5b |
C |
T |
17: 27,142,056 (GRCm39) |
T178M |
probably benign |
Het |
| Krt80 |
T |
C |
15: 101,250,180 (GRCm39) |
T22A |
probably damaging |
Het |
| L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,853,198 (GRCm39) |
|
probably benign |
Het |
| Mettl18 |
A |
G |
1: 163,823,910 (GRCm39) |
D77G |
probably benign |
Het |
| Mfsd2a |
A |
G |
4: 122,843,961 (GRCm39) |
L336P |
probably benign |
Het |
| Mgat4b |
A |
G |
11: 50,121,746 (GRCm39) |
|
probably null |
Het |
| Mtmr14 |
C |
T |
6: 113,257,649 (GRCm39) |
R233* |
probably null |
Het |
| Nbea |
T |
C |
3: 55,937,328 (GRCm39) |
Y761C |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,067,571 (GRCm39) |
|
probably null |
Het |
| Nup85 |
T |
G |
11: 115,455,357 (GRCm39) |
M1R |
probably null |
Het |
| Obi1 |
T |
C |
14: 104,716,289 (GRCm39) |
R695G |
possibly damaging |
Het |
| Or6c70 |
T |
A |
10: 129,709,811 (GRCm39) |
I272L |
probably benign |
Het |
| Oxr1 |
T |
A |
15: 41,680,593 (GRCm39) |
M177K |
probably damaging |
Het |
| Pgm2l1 |
A |
G |
7: 99,901,405 (GRCm39) |
Y98C |
probably damaging |
Het |
| Pi4kb |
G |
T |
3: 94,904,115 (GRCm39) |
|
probably benign |
Het |
| Pi4kb |
G |
A |
3: 94,904,116 (GRCm39) |
|
probably benign |
Het |
| Pirb |
T |
A |
7: 3,722,247 (GRCm39) |
S199C |
probably benign |
Het |
| Prss23 |
A |
C |
7: 89,159,055 (GRCm39) |
I338S |
probably damaging |
Het |
| Rapgef3 |
A |
T |
15: 97,655,700 (GRCm39) |
|
probably benign |
Het |
| Rdh7 |
T |
A |
10: 127,720,539 (GRCm39) |
T278S |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,277,538 (GRCm39) |
D606G |
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,559,684 (GRCm39) |
Y379F |
possibly damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,990,853 (GRCm39) |
V514A |
probably benign |
Het |
| Scel |
A |
T |
14: 103,799,954 (GRCm39) |
E202V |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 96,962,257 (GRCm39) |
A244V |
probably benign |
Het |
| Slc2a13 |
T |
G |
15: 91,400,595 (GRCm39) |
Q209P |
probably damaging |
Het |
| Slc38a6 |
A |
G |
12: 73,399,304 (GRCm39) |
N456S |
probably benign |
Het |
| Slc6a12 |
G |
T |
6: 121,323,957 (GRCm39) |
|
probably null |
Het |
| Spag6l |
T |
C |
16: 16,598,493 (GRCm39) |
I333V |
probably benign |
Het |
| Spen |
G |
A |
4: 141,201,514 (GRCm39) |
A2371V |
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,657,466 (GRCm39) |
D366G |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,940,696 (GRCm39) |
S5G |
probably benign |
Het |
| Tex56 |
T |
C |
13: 35,116,636 (GRCm39) |
|
probably benign |
Het |
| Tle2 |
T |
C |
10: 81,413,482 (GRCm39) |
L84P |
probably damaging |
Het |
| Tmem14a |
T |
C |
1: 21,296,876 (GRCm39) |
M78T |
probably damaging |
Het |
| Top2b |
T |
A |
14: 16,413,556 (GRCm38) |
|
probably null |
Het |
| Trmt13 |
A |
G |
3: 116,376,299 (GRCm39) |
F364S |
probably damaging |
Het |
| Unkl |
T |
A |
17: 25,449,751 (GRCm39) |
|
probably null |
Het |
| Uvrag |
A |
G |
7: 98,653,926 (GRCm39) |
|
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,949,938 (GRCm39) |
N303I |
probably benign |
Het |
| Vsig10l |
A |
G |
7: 43,114,879 (GRCm39) |
N360S |
probably damaging |
Het |
| Zdhhc25 |
T |
C |
15: 88,485,123 (GRCm39) |
Y153H |
probably damaging |
Het |
| Zfp646 |
T |
C |
7: 127,482,434 (GRCm39) |
V1537A |
possibly damaging |
Het |
| Zfp664 |
T |
A |
5: 124,963,129 (GRCm39) |
Y174* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTGGTGTCCTACCTTCAAAAGTGA -3'
(R):5'- GCATGACCACTGTGCTGAAATTAGAGA -3'
Sequencing Primer
(F):5'- TGTCCTACCTTCAAAAGTGAAAAATC -3'
(R):5'- ACAGTCTGTCACTAAACTGATCTCTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation