Incidental Mutation 'R1707:Atrnl1'
ID |
190193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atrnl1
|
Ensembl Gene |
ENSMUSG00000054843 |
Gene Name |
attractin like 1 |
Synonyms |
Alp |
MMRRC Submission |
039740-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.182)
|
Stock # |
R1707 (G1)
|
Quality Score |
208 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
57599466-58121775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57675169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 686
(D686G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077282]
|
AlphaFold |
Q6A051 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077282
AA Change: D686G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000076514 Gene: ENSMUSG00000054843 AA Change: D686G
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 |
0.0602 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
96% (82/85) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
A |
T |
1: 159,898,372 (GRCm39) |
|
probably benign |
Het |
4931429P17Rik |
A |
G |
13: 48,114,481 (GRCm39) |
|
noncoding transcript |
Het |
Acox3 |
T |
A |
5: 35,758,908 (GRCm39) |
I373N |
possibly damaging |
Het |
Adgrb1 |
G |
T |
15: 74,401,192 (GRCm39) |
A63S |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Aplp2 |
A |
T |
9: 31,062,215 (GRCm39) |
H692Q |
probably damaging |
Het |
Arhgap24 |
T |
C |
5: 103,039,953 (GRCm39) |
S297P |
probably benign |
Het |
Arhgap9 |
C |
T |
10: 127,164,758 (GRCm39) |
P561S |
probably benign |
Het |
Arhgef10l |
T |
G |
4: 140,291,600 (GRCm39) |
D62A |
probably damaging |
Het |
Asb14 |
T |
G |
14: 26,623,079 (GRCm39) |
F150L |
probably benign |
Het |
Atp8b3 |
A |
T |
10: 80,357,635 (GRCm39) |
|
probably null |
Het |
Bmpr1a |
A |
T |
14: 34,147,098 (GRCm39) |
|
probably benign |
Het |
Cc2d2a |
T |
A |
5: 43,881,030 (GRCm39) |
|
probably null |
Het |
Ccin |
T |
A |
4: 43,983,947 (GRCm39) |
I118N |
probably benign |
Het |
Cd8b1 |
G |
A |
6: 71,303,168 (GRCm39) |
G81D |
probably damaging |
Het |
Cep126 |
G |
A |
9: 8,100,383 (GRCm39) |
S717L |
probably benign |
Het |
Cip2a |
A |
C |
16: 48,838,767 (GRCm39) |
Q861H |
probably damaging |
Het |
Colgalt2 |
C |
T |
1: 152,276,114 (GRCm39) |
R76W |
probably damaging |
Het |
Copg1 |
A |
T |
6: 87,882,192 (GRCm39) |
T596S |
probably benign |
Het |
Cpb1 |
G |
A |
3: 20,329,655 (GRCm39) |
R24W |
probably damaging |
Het |
Csad |
T |
A |
15: 102,088,407 (GRCm39) |
D134V |
probably damaging |
Het |
Dchs2 |
A |
G |
3: 83,034,912 (GRCm39) |
|
probably benign |
Het |
Ddb2 |
A |
G |
2: 91,064,554 (GRCm39) |
W119R |
probably damaging |
Het |
Dhx57 |
A |
T |
17: 80,582,655 (GRCm39) |
S317T |
probably damaging |
Het |
Dlc1 |
A |
G |
8: 37,404,763 (GRCm39) |
V342A |
probably benign |
Het |
Dpp4 |
G |
A |
2: 62,189,679 (GRCm39) |
|
probably benign |
Het |
Dst |
G |
T |
1: 34,206,727 (GRCm39) |
W1005L |
probably damaging |
Het |
Ehmt1 |
T |
C |
2: 24,695,150 (GRCm39) |
M989V |
probably benign |
Het |
Entr1 |
T |
A |
2: 26,277,618 (GRCm39) |
N69Y |
probably damaging |
Het |
Gm5422 |
G |
A |
10: 31,124,458 (GRCm39) |
|
noncoding transcript |
Het |
Gm9944 |
A |
G |
4: 144,179,833 (GRCm39) |
|
probably benign |
Het |
Gtf2ird2 |
T |
C |
5: 134,245,829 (GRCm39) |
Y696H |
probably damaging |
Het |
H2-M11 |
T |
G |
17: 36,859,658 (GRCm39) |
V217G |
probably damaging |
Het |
Hunk |
C |
T |
16: 90,183,295 (GRCm39) |
|
probably benign |
Het |
Impg1 |
T |
C |
9: 80,285,799 (GRCm39) |
|
probably null |
Het |
Ints11 |
T |
G |
4: 155,959,655 (GRCm39) |
D87E |
probably benign |
Het |
Intu |
T |
A |
3: 40,595,073 (GRCm39) |
S21T |
probably benign |
Het |
Intu |
C |
A |
3: 40,637,931 (GRCm39) |
D472E |
possibly damaging |
Het |
Kbtbd3 |
T |
A |
9: 4,316,985 (GRCm39) |
N45K |
probably benign |
Het |
Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
Klrg2 |
C |
G |
6: 38,613,729 (GRCm39) |
E91D |
possibly damaging |
Het |
Lamc3 |
T |
C |
2: 31,802,141 (GRCm39) |
|
probably null |
Het |
Magi2 |
T |
G |
5: 20,420,491 (GRCm39) |
M309R |
probably damaging |
Het |
Magohb |
G |
A |
6: 131,261,600 (GRCm39) |
P147S |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,693,504 (GRCm39) |
D1043G |
probably damaging |
Het |
Mtmr3 |
T |
C |
11: 4,454,095 (GRCm39) |
D203G |
probably damaging |
Het |
Mvp |
C |
T |
7: 126,600,744 (GRCm39) |
V86I |
probably benign |
Het |
Naip5 |
A |
T |
13: 100,379,363 (GRCm39) |
F226I |
probably damaging |
Het |
Nasp |
T |
A |
4: 116,476,133 (GRCm39) |
Q51L |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,426,430 (GRCm39) |
F1594I |
probably damaging |
Het |
Nod2 |
A |
C |
8: 89,397,104 (GRCm39) |
E816A |
possibly damaging |
Het |
Nom1 |
G |
A |
5: 29,640,316 (GRCm39) |
S214N |
probably damaging |
Het |
Or2l13b |
T |
C |
16: 19,348,927 (GRCm39) |
T248A |
probably benign |
Het |
Or8c9 |
T |
A |
9: 38,241,197 (GRCm39) |
F105I |
probably damaging |
Het |
Parp14 |
A |
C |
16: 35,678,219 (GRCm39) |
L583R |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,763,238 (GRCm39) |
S3904P |
unknown |
Het |
Pkhd1 |
T |
A |
1: 20,621,064 (GRCm39) |
|
probably benign |
Het |
Plaat1 |
A |
G |
16: 29,046,978 (GRCm39) |
K166E |
probably damaging |
Het |
Polr1e |
A |
C |
4: 45,027,469 (GRCm39) |
D233A |
probably damaging |
Het |
Prr29 |
T |
C |
11: 106,267,509 (GRCm39) |
V124A |
probably damaging |
Het |
Rasgrp1 |
A |
T |
2: 117,129,028 (GRCm39) |
V197E |
probably damaging |
Het |
Rgma |
A |
T |
7: 73,067,707 (GRCm39) |
T415S |
unknown |
Het |
Sacs |
G |
T |
14: 61,447,211 (GRCm39) |
V3086L |
probably benign |
Het |
Sash1 |
A |
G |
10: 8,606,141 (GRCm39) |
S750P |
probably benign |
Het |
Scpppq1 |
T |
A |
5: 104,222,099 (GRCm39) |
|
probably benign |
Het |
Sema6a |
A |
T |
18: 47,416,512 (GRCm39) |
S372T |
probably benign |
Het |
Sis |
A |
G |
3: 72,816,420 (GRCm39) |
|
probably benign |
Het |
Skint8 |
T |
A |
4: 111,796,769 (GRCm39) |
V291D |
probably damaging |
Het |
Slc12a8 |
A |
G |
16: 33,371,377 (GRCm39) |
N171S |
probably damaging |
Het |
Slc25a40 |
G |
A |
5: 8,490,793 (GRCm39) |
|
probably null |
Het |
Spag6l |
A |
T |
16: 16,598,492 (GRCm39) |
I333N |
probably benign |
Het |
Sspo |
T |
A |
6: 48,454,811 (GRCm39) |
F2999L |
probably damaging |
Het |
Stambpl1 |
A |
C |
19: 34,216,221 (GRCm39) |
T363P |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,537,892 (GRCm39) |
N1785Y |
probably damaging |
Het |
Tln2 |
C |
T |
9: 67,283,089 (GRCm39) |
S293N |
probably benign |
Het |
Tmed3 |
G |
A |
9: 89,584,833 (GRCm39) |
L141F |
probably damaging |
Het |
Tmem30c |
G |
T |
16: 57,086,843 (GRCm39) |
T320K |
possibly damaging |
Het |
Tnn |
T |
C |
1: 159,972,714 (GRCm39) |
Y296C |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,620,430 (GRCm39) |
A15802T |
probably damaging |
Het |
Usp53 |
T |
C |
3: 122,741,049 (GRCm39) |
M734V |
probably benign |
Het |
Vmn1r24 |
A |
G |
6: 57,933,497 (GRCm39) |
I7T |
probably benign |
Het |
Vmn1r74 |
T |
A |
7: 11,581,504 (GRCm39) |
V268E |
probably damaging |
Het |
Xirp1 |
A |
T |
9: 119,847,841 (GRCm39) |
H347Q |
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 |
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 |
|
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'- ACGTCCATTGCCGATCTGTGAAG -3'
(R):5'- TTCGCACAGTAACGAGGCAGTAAG -3'
Sequencing Primer
(F):5'- TGTGTCCTGGAAGTACAAAGTC -3'
(R):5'- GGCAGTAAGGGCAACGC -3'
|
Posted On |
2014-05-14 |