Incidental Mutation 'R6169:Atrnl1'
ID |
490351 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atrnl1
|
Ensembl Gene |
ENSMUSG00000054843 |
Gene Name |
attractin like 1 |
Synonyms |
Alp |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R6169 (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 57630895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 221
(T221A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077282]
|
AlphaFold |
Q6A051 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077282
AA Change: T221A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000076514 Gene: ENSMUSG00000054843 AA Change: T221A
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 |
0.0820 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
94% (67/71) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
C |
A |
11: 3,888,005 (GRCm39) |
C127F |
unknown |
Het |
9930111J21Rik2 |
A |
T |
11: 48,910,088 (GRCm39) |
|
probably null |
Het |
Adamts16 |
A |
T |
13: 70,918,393 (GRCm39) |
L676* |
probably null |
Het |
Adgrv1 |
A |
T |
13: 81,567,378 (GRCm39) |
V5265E |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,189,141 (GRCm39) |
M2185K |
probably benign |
Het |
Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
Ankrd50 |
A |
G |
3: 38,509,988 (GRCm39) |
V793A |
probably damaging |
Het |
Arid2 |
T |
A |
15: 96,266,558 (GRCm39) |
N535K |
probably benign |
Het |
Bbof1 |
C |
T |
12: 84,473,588 (GRCm39) |
T306I |
probably benign |
Het |
Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
Ccdc60 |
C |
A |
5: 116,275,131 (GRCm39) |
A351S |
probably benign |
Het |
Cetn3 |
A |
C |
13: 81,940,097 (GRCm39) |
R44S |
probably damaging |
Het |
Cluap1 |
A |
G |
16: 3,746,425 (GRCm39) |
K262R |
possibly damaging |
Het |
Cnrip1 |
G |
A |
11: 17,004,731 (GRCm39) |
V94I |
probably null |
Het |
Cog6 |
A |
T |
3: 52,914,722 (GRCm39) |
S245T |
probably benign |
Het |
Disp2 |
T |
A |
2: 118,622,031 (GRCm39) |
V921D |
probably damaging |
Het |
Entrep2 |
G |
A |
7: 64,409,147 (GRCm39) |
P416S |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,889,863 (GRCm39) |
K504E |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,177,409 (GRCm39) |
|
probably null |
Het |
Fyb2 |
T |
C |
4: 104,857,713 (GRCm39) |
V630A |
probably benign |
Het |
Gm43218 |
T |
A |
6: 70,217,606 (GRCm39) |
Y50F |
probably benign |
Het |
Gm5431 |
T |
C |
11: 48,779,402 (GRCm39) |
T507A |
probably benign |
Het |
Gucy2e |
G |
T |
11: 69,126,930 (GRCm39) |
A181E |
probably benign |
Het |
Hrnr |
C |
G |
3: 93,233,062 (GRCm39) |
S1100* |
probably null |
Het |
Htt |
T |
C |
5: 35,064,817 (GRCm39) |
V3010A |
probably damaging |
Het |
Ighv1-11 |
T |
C |
12: 114,575,918 (GRCm39) |
Y99C |
probably damaging |
Het |
Ighv1-12 |
T |
C |
12: 114,579,577 (GRCm39) |
K25E |
possibly damaging |
Het |
Il6ra |
A |
G |
3: 89,778,598 (GRCm39) |
F417S |
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,885,102 (GRCm39) |
S994P |
probably damaging |
Het |
Itgbl1 |
G |
A |
14: 123,897,790 (GRCm39) |
A24T |
probably benign |
Het |
Itpr1 |
T |
C |
6: 108,346,077 (GRCm39) |
F127L |
probably damaging |
Het |
Itprid2 |
T |
G |
2: 79,475,406 (GRCm39) |
I455R |
probably damaging |
Het |
Krt86 |
A |
G |
15: 101,374,170 (GRCm39) |
Y243C |
probably damaging |
Het |
Lnx1 |
A |
T |
5: 74,838,230 (GRCm39) |
W11R |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,923,929 (GRCm39) |
L302P |
probably damaging |
Het |
Mettl3 |
A |
G |
14: 52,536,214 (GRCm39) |
V210A |
possibly damaging |
Het |
Mllt1 |
T |
C |
17: 57,206,822 (GRCm39) |
T341A |
probably benign |
Het |
Obscn |
T |
C |
11: 58,891,325 (GRCm39) |
E7069G |
unknown |
Het |
Or1e27-ps1 |
A |
T |
11: 73,556,160 (GRCm39) |
T242S |
possibly damaging |
Het |
Or52b4 |
T |
C |
7: 102,184,479 (GRCm39) |
I175T |
probably benign |
Het |
Osgep |
A |
G |
14: 51,157,209 (GRCm39) |
V11A |
possibly damaging |
Het |
Oxld1 |
G |
A |
11: 120,347,675 (GRCm39) |
A174V |
possibly damaging |
Het |
Pibf1 |
A |
T |
14: 99,350,443 (GRCm39) |
E197V |
probably null |
Het |
Pkn1 |
G |
A |
8: 84,407,835 (GRCm39) |
Q425* |
probably null |
Het |
Pramel22 |
T |
C |
4: 143,380,685 (GRCm39) |
Y446C |
probably benign |
Het |
Prss35 |
T |
C |
9: 86,637,491 (GRCm39) |
I87T |
probably benign |
Het |
Psmc3 |
T |
C |
2: 90,888,184 (GRCm39) |
F304S |
probably damaging |
Het |
Psmd11 |
T |
A |
11: 80,351,539 (GRCm39) |
M254K |
probably damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,292,385 (GRCm39) |
Y218C |
probably damaging |
Het |
Sec23b |
C |
T |
2: 144,428,894 (GRCm39) |
R701C |
probably damaging |
Het |
Slc22a21 |
A |
G |
11: 53,848,913 (GRCm39) |
S280P |
probably damaging |
Het |
Slc39a12 |
T |
C |
2: 14,405,044 (GRCm39) |
I212T |
possibly damaging |
Het |
Slc7a12 |
T |
C |
3: 14,562,388 (GRCm39) |
V255A |
probably damaging |
Het |
Smc3 |
T |
A |
19: 53,622,517 (GRCm39) |
N697K |
probably benign |
Het |
Snai1 |
C |
A |
2: 167,380,831 (GRCm39) |
P108Q |
probably benign |
Het |
Stim2 |
T |
G |
5: 54,276,021 (GRCm39) |
L732R |
probably damaging |
Het |
Syde1 |
A |
G |
10: 78,421,938 (GRCm39) |
L597S |
probably damaging |
Het |
Tcte1 |
T |
A |
17: 45,845,996 (GRCm39) |
M200K |
probably benign |
Het |
Tenm2 |
T |
A |
11: 36,030,517 (GRCm39) |
T761S |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,666,262 (GRCm39) |
N261K |
probably benign |
Het |
Tlr2 |
C |
A |
3: 83,745,455 (GRCm39) |
E209D |
probably benign |
Het |
Tpp2 |
T |
C |
1: 44,022,739 (GRCm39) |
L33P |
probably damaging |
Het |
Trmt1l |
C |
A |
1: 151,304,704 (GRCm39) |
|
probably benign |
Het |
Unc45a |
A |
C |
7: 79,978,511 (GRCm39) |
S646A |
possibly damaging |
Het |
Usp37 |
A |
T |
1: 74,534,910 (GRCm39) |
I12N |
probably damaging |
Het |
Vmn2r81 |
T |
C |
10: 79,104,382 (GRCm39) |
V335A |
probably benign |
Het |
Wwc2 |
A |
T |
8: 48,311,878 (GRCm39) |
S762T |
unknown |
Het |
Yeats2 |
A |
G |
16: 20,038,417 (GRCm39) |
K129E |
probably damaging |
Het |
Zscan4-ps2 |
T |
C |
7: 11,251,558 (GRCm39) |
V198A |
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 |
|
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'- TGTGAATGAACTAAGACGCGC -3'
(R):5'- GTAGCATTGCACCCACCATC -3'
Sequencing Primer
(F):5'- CGCAGCATAAGTAACAGTGAGC -3'
(R):5'- ATCTCCACGTGGCCACTAG -3'
|
Posted On |
2017-10-10 |