Incidental Mutation 'R1748:Atrnl1'
| ID |
194174 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atrnl1
|
| Ensembl Gene |
ENSMUSG00000054843 |
| Gene Name |
attractin like 1 |
| Synonyms |
Alp |
| MMRRC Submission |
039780-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R1748 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
57599466-58121775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57703134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1051
(T1051A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077282]
|
| AlphaFold |
Q6A051 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077282
AA Change: T1051A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076514
Gene: ENSMUSG00000054843
AA Change: T1051A
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.8%
|
| Validation Efficiency |
|
| 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 |
|---|
| Abcc5 |
G |
T |
16: 20,152,338 (GRCm39) |
Q1403K |
probably benign |
Het |
| Adamts12 |
G |
A |
15: 11,241,548 (GRCm39) |
M373I |
probably damaging |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Aire |
T |
C |
10: 77,879,314 (GRCm39) |
H15R |
probably damaging |
Het |
| Aldh3b2 |
T |
C |
19: 4,027,572 (GRCm39) |
F38L |
probably damaging |
Het |
| Alk |
A |
C |
17: 72,910,416 (GRCm39) |
C97G |
probably benign |
Het |
| Ano8 |
T |
C |
8: 71,931,602 (GRCm39) |
|
probably benign |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arsk |
T |
A |
13: 76,210,529 (GRCm39) |
H506L |
probably benign |
Het |
| Asgr2 |
G |
T |
11: 69,987,658 (GRCm39) |
R52L |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,058,780 (GRCm39) |
I145T |
possibly damaging |
Het |
| Cacna1e |
A |
T |
1: 154,362,315 (GRCm39) |
V424D |
possibly damaging |
Het |
| Capn3 |
T |
C |
2: 120,327,494 (GRCm39) |
V574A |
probably benign |
Het |
| Capzb |
C |
A |
4: 138,984,679 (GRCm39) |
D67E |
probably damaging |
Het |
| Ccdc68 |
A |
T |
18: 70,089,062 (GRCm39) |
T202S |
probably benign |
Het |
| Ccser2 |
T |
C |
14: 36,618,270 (GRCm39) |
K123R |
probably damaging |
Het |
| Ccser2 |
T |
A |
14: 36,618,271 (GRCm39) |
K123* |
probably null |
Het |
| Ces2h |
T |
C |
8: 105,744,473 (GRCm39) |
I316T |
probably benign |
Het |
| Chd3 |
T |
G |
11: 69,255,523 (GRCm39) |
K122Q |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,580,279 (GRCm39) |
T1533A |
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,838,213 (GRCm39) |
K1084* |
probably null |
Het |
| Ddx28 |
A |
G |
8: 106,737,314 (GRCm39) |
L248P |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,075,286 (GRCm39) |
E488G |
probably benign |
Het |
| Dld |
T |
C |
12: 31,384,745 (GRCm39) |
T305A |
probably benign |
Het |
| Dok5 |
T |
A |
2: 170,683,373 (GRCm39) |
F211L |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,117,532 (GRCm39) |
D934G |
probably benign |
Het |
| Eif3a |
G |
A |
19: 60,755,236 (GRCm39) |
T982I |
unknown |
Het |
| Erbb2 |
G |
T |
11: 98,326,161 (GRCm39) |
R979L |
probably benign |
Het |
| Espl1 |
G |
T |
15: 102,206,964 (GRCm39) |
V143L |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,080,236 (GRCm39) |
L598P |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,147,473 (GRCm39) |
E3923V |
probably damaging |
Het |
| Fhod3 |
A |
T |
18: 24,903,550 (GRCm39) |
K95* |
probably null |
Het |
| Gpr108 |
G |
T |
17: 57,543,217 (GRCm39) |
T484K |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,340,238 (GRCm39) |
N351I |
possibly damaging |
Het |
| Hepacam |
A |
T |
9: 37,295,189 (GRCm39) |
N308I |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,798,571 (GRCm39) |
|
probably null |
Het |
| Hltf |
T |
C |
3: 20,130,685 (GRCm39) |
I301T |
probably benign |
Het |
| Igsf10 |
A |
T |
3: 59,226,514 (GRCm39) |
N2386K |
probably damaging |
Het |
| Ikbke |
G |
T |
1: 131,186,937 (GRCm39) |
T585K |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,021,287 (GRCm39) |
T448A |
possibly damaging |
Het |
| Kl |
T |
C |
5: 150,904,450 (GRCm39) |
S401P |
possibly damaging |
Het |
| Lama4 |
T |
C |
10: 38,941,615 (GRCm39) |
V684A |
probably benign |
Het |
| Lgals8 |
A |
T |
13: 12,469,824 (GRCm39) |
F45Y |
probably damaging |
Het |
| Lgalsl |
G |
A |
11: 20,776,491 (GRCm39) |
R134C |
probably benign |
Het |
| Lmcd1 |
T |
C |
6: 112,306,875 (GRCm39) |
V349A |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,618,718 (GRCm39) |
N119Y |
possibly damaging |
Het |
| Lrrc73 |
T |
A |
17: 46,566,621 (GRCm39) |
I157N |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,334,766 (GRCm39) |
Y293H |
probably damaging |
Het |
| Mybphl |
A |
T |
3: 108,282,400 (GRCm39) |
|
probably null |
Het |
| Naa12 |
T |
C |
18: 80,255,161 (GRCm39) |
S152P |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,802,930 (GRCm39) |
M140T |
possibly damaging |
Het |
| Or2n1e |
T |
A |
17: 38,585,997 (GRCm39) |
C112S |
possibly damaging |
Het |
| Or8b38 |
A |
G |
9: 37,972,796 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pbx2 |
T |
C |
17: 34,812,951 (GRCm39) |
S76P |
possibly damaging |
Het |
| Plcl2 |
T |
A |
17: 50,913,826 (GRCm39) |
S278R |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,915 (GRCm39) |
L393* |
probably null |
Het |
| Prmt6 |
T |
C |
3: 110,157,683 (GRCm39) |
Q202R |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sag |
T |
A |
1: 87,759,662 (GRCm39) |
I300N |
probably damaging |
Het |
| Sap25 |
T |
A |
5: 137,640,180 (GRCm39) |
|
probably null |
Het |
| Scarb2 |
A |
G |
5: 92,608,695 (GRCm39) |
L177P |
probably damaging |
Het |
| Sh3pxd2b |
A |
T |
11: 32,372,203 (GRCm39) |
N457Y |
possibly damaging |
Het |
| Siae |
T |
A |
9: 37,542,902 (GRCm39) |
|
probably null |
Het |
| Slc36a1 |
T |
C |
11: 55,119,150 (GRCm39) |
L375P |
probably damaging |
Het |
| Smg8 |
A |
G |
11: 86,976,594 (GRCm39) |
V329A |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,870,695 (GRCm39) |
Y241F |
probably damaging |
Het |
| Tm9sf3 |
T |
G |
19: 41,244,668 (GRCm39) |
S70R |
probably benign |
Het |
| Tmem144 |
C |
T |
3: 79,732,594 (GRCm39) |
S228N |
probably damaging |
Het |
| Tmem45a |
C |
A |
16: 56,642,701 (GRCm39) |
V157F |
possibly damaging |
Het |
| Tpbg |
G |
T |
9: 85,726,429 (GRCm39) |
V133L |
probably damaging |
Het |
| Trpv3 |
G |
A |
11: 73,186,209 (GRCm39) |
V667I |
possibly damaging |
Het |
| Ube2c |
T |
C |
2: 164,613,241 (GRCm39) |
F53S |
probably damaging |
Het |
| Vmn1r78 |
T |
A |
7: 11,887,250 (GRCm39) |
V287D |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,527,035 (GRCm39) |
D499V |
probably benign |
Het |
| Zpld2 |
C |
G |
4: 133,927,610 (GRCm39) |
C381S |
probably damaging |
Het |
| Zpld2 |
T |
A |
4: 133,929,430 (GRCm39) |
T292S |
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 |
|
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'- GCTGATACTGGGTTCTTTGTGACACTG -3'
(R):5'- CGTGGGCTCTAGCAACAATGAGAATAA -3'
Sequencing Primer
(F):5'- GTGACACTGTTTGCTGTTTCC -3'
(R):5'- GGCATCTTTCTATAACTGTCAACTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation