Incidental Mutation 'R6242:Atrnl1'
ID |
505343 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atrnl1
|
Ensembl Gene |
ENSMUSG00000054843 |
Gene Name |
attractin like 1 |
Synonyms |
Alp |
MMRRC Submission |
044434-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.182)
|
Stock # |
R6242 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
57599466-58121775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 57630910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 226
(V226F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077282]
|
AlphaFold |
Q6A051 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077282
AA Change: V226F
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000076514 Gene: ENSMUSG00000054843 AA Change: V226F
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
99% (75/76) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
G |
T |
15: 98,501,896 (GRCm39) |
C239* |
probably null |
Het |
Akr1c6 |
A |
G |
13: 4,486,361 (GRCm39) |
Q56R |
probably benign |
Het |
Apaf1 |
T |
A |
10: 90,898,025 (GRCm39) |
D244V |
probably damaging |
Het |
Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
Arhgef11 |
C |
A |
3: 87,635,385 (GRCm39) |
A898E |
probably benign |
Het |
Asxl3 |
A |
T |
18: 22,655,433 (GRCm39) |
N1148Y |
probably damaging |
Het |
Atf6 |
T |
A |
1: 170,621,545 (GRCm39) |
Q492L |
possibly damaging |
Het |
Cfap68 |
C |
T |
9: 50,675,215 (GRCm39) |
E148K |
probably benign |
Het |
Cntnap1 |
A |
T |
11: 101,073,364 (GRCm39) |
Y615F |
probably damaging |
Het |
Crybg3 |
T |
C |
16: 59,376,053 (GRCm39) |
T1734A |
probably benign |
Het |
Ctdp1 |
A |
C |
18: 80,502,427 (GRCm39) |
V161G |
probably damaging |
Het |
Cyp4a30b |
T |
A |
4: 115,311,587 (GRCm39) |
V85E |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Epha6 |
A |
T |
16: 59,503,025 (GRCm39) |
W961R |
probably damaging |
Het |
Fam114a1 |
A |
G |
5: 65,188,695 (GRCm39) |
E475G |
probably damaging |
Het |
Fam186a |
A |
G |
15: 99,837,788 (GRCm39) |
Y2819H |
unknown |
Het |
Fancm |
A |
T |
12: 65,163,216 (GRCm39) |
Q1460L |
probably benign |
Het |
Fancm |
C |
A |
12: 65,163,223 (GRCm39) |
N1462K |
probably benign |
Het |
Fgf14 |
T |
C |
14: 124,913,940 (GRCm39) |
K64E |
probably benign |
Het |
Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
Garem1 |
C |
G |
18: 21,262,229 (GRCm39) |
V862L |
possibly damaging |
Het |
Grin3b |
G |
A |
10: 79,812,013 (GRCm39) |
G814R |
probably damaging |
Het |
Hacd4 |
A |
G |
4: 88,332,524 (GRCm39) |
S226P |
probably benign |
Het |
Htt |
A |
G |
5: 35,003,356 (GRCm39) |
Y1277C |
probably damaging |
Het |
Igkv1-131 |
T |
A |
6: 67,743,062 (GRCm39) |
D107V |
probably damaging |
Het |
Iqcc |
T |
C |
4: 129,510,639 (GRCm39) |
D292G |
probably damaging |
Het |
Krtap13 |
C |
T |
16: 88,548,384 (GRCm39) |
V35I |
probably damaging |
Het |
Liat1 |
T |
C |
11: 75,890,981 (GRCm39) |
S32P |
probably damaging |
Het |
Lrrc59 |
G |
T |
11: 94,525,809 (GRCm39) |
L132F |
possibly damaging |
Het |
Mcub |
T |
C |
3: 129,709,444 (GRCm39) |
S290G |
probably benign |
Het |
Mettl4 |
A |
G |
17: 95,042,802 (GRCm39) |
W345R |
probably damaging |
Het |
Msgn1 |
G |
A |
12: 11,258,526 (GRCm39) |
R142W |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,180,893 (GRCm39) |
I761V |
probably benign |
Het |
Neb |
T |
A |
2: 52,066,824 (GRCm39) |
K5879M |
probably damaging |
Het |
Nkd2 |
C |
T |
13: 73,970,905 (GRCm39) |
V226M |
probably damaging |
Het |
Nt5el |
T |
A |
13: 105,246,048 (GRCm39) |
V203E |
probably benign |
Het |
Or51a24 |
T |
G |
7: 103,733,771 (GRCm39) |
H172P |
possibly damaging |
Het |
Or5b106 |
T |
A |
19: 13,123,450 (GRCm39) |
H191L |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,832,856 (GRCm39) |
L393* |
probably null |
Het |
Pcdhgb6 |
G |
A |
18: 37,876,608 (GRCm39) |
V439I |
probably benign |
Het |
Pde1a |
T |
A |
2: 79,959,136 (GRCm39) |
T15S |
probably benign |
Het |
Pgr |
T |
A |
9: 8,900,980 (GRCm39) |
I171N |
probably benign |
Het |
Podxl |
T |
A |
6: 31,503,180 (GRCm39) |
D296V |
probably benign |
Het |
Polr3e |
A |
T |
7: 120,539,690 (GRCm39) |
E479V |
possibly damaging |
Het |
Prdm10 |
A |
T |
9: 31,252,548 (GRCm39) |
H427L |
possibly damaging |
Het |
Prl5a1 |
A |
T |
13: 28,326,538 (GRCm39) |
K5* |
probably null |
Het |
Prph |
A |
G |
15: 98,955,004 (GRCm39) |
S325G |
probably damaging |
Het |
Rabl2 |
C |
A |
15: 89,468,555 (GRCm39) |
W49L |
probably benign |
Het |
Rbbp8nl |
T |
A |
2: 179,922,767 (GRCm39) |
I209F |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Scn7a |
T |
C |
2: 66,531,110 (GRCm39) |
D589G |
probably benign |
Het |
Sdr42e1 |
A |
T |
8: 118,389,936 (GRCm39) |
L235Q |
possibly damaging |
Het |
Serpina3a |
T |
C |
12: 104,082,260 (GRCm39) |
M11T |
probably benign |
Het |
Slc6a4 |
A |
T |
11: 76,909,184 (GRCm39) |
K399* |
probably null |
Het |
Slco4c1 |
T |
A |
1: 96,767,008 (GRCm39) |
T337S |
probably damaging |
Het |
Spc25 |
A |
T |
2: 69,027,555 (GRCm39) |
F112L |
probably damaging |
Het |
Swt1 |
A |
G |
1: 151,283,365 (GRCm39) |
S331P |
probably benign |
Het |
Tab1 |
A |
T |
15: 80,039,971 (GRCm39) |
K264* |
probably null |
Het |
Tagln3 |
T |
A |
16: 45,544,701 (GRCm39) |
|
probably benign |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tbck |
A |
G |
3: 132,400,189 (GRCm39) |
D80G |
probably benign |
Het |
Tcim |
A |
T |
8: 24,928,911 (GRCm39) |
M1K |
probably null |
Het |
Thap2 |
A |
G |
10: 115,208,831 (GRCm39) |
S37P |
unknown |
Het |
Tjp2 |
A |
T |
19: 24,076,967 (GRCm39) |
|
probably null |
Het |
Tln1 |
G |
A |
4: 43,533,145 (GRCm39) |
S2390L |
probably damaging |
Het |
Trpm5 |
T |
G |
7: 142,626,919 (GRCm39) |
I1101L |
probably benign |
Het |
Ttc3 |
T |
G |
16: 94,243,554 (GRCm39) |
M831R |
probably benign |
Het |
Tulp3 |
A |
G |
6: 128,300,050 (GRCm39) |
C459R |
probably damaging |
Het |
Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
Unc13b |
A |
T |
4: 43,165,800 (GRCm39) |
T195S |
possibly damaging |
Het |
Urgcp |
A |
G |
11: 5,666,691 (GRCm39) |
L549P |
probably benign |
Het |
Usp10 |
G |
T |
8: 120,668,577 (GRCm39) |
A293S |
probably benign |
Het |
Vmn2r23 |
A |
G |
6: 123,681,359 (GRCm39) |
E89G |
possibly damaging |
Het |
Vmn2r75 |
A |
C |
7: 85,814,592 (GRCm39) |
D300E |
probably damaging |
Het |
Wif1 |
T |
C |
10: 120,870,366 (GRCm39) |
I40T |
possibly damaging |
Het |
Zmynd8 |
G |
A |
2: 165,740,867 (GRCm39) |
R6C |
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 |
|
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 |
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'- GTGAATGAACTAAGACGCGC -3'
(R):5'- GTAGCATTGCACCCACCATC -3'
Sequencing Primer
(F):5'- CGCAGCATAAGTAACAGTGAGC -3'
(R):5'- ATCTCCACGTGGCCACTAG -3'
|
Posted On |
2018-02-28 |