Incidental Mutation 'PIT4812001:Atrnl1'
ID |
556949 |
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: 0.182)
|
Stock # |
PIT4812001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
57599466-58121775 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57720055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 1082
(I1082V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077282]
|
AlphaFold |
Q6A051 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077282
AA Change: I1082V
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000076514 Gene: ENSMUSG00000054843 AA Change: I1082V
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: 93.8%
- 3x: 91.0%
- 10x: 85.3%
- 20x: 73.0%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
C |
18: 6,630,053 (GRCm39) |
S252P |
possibly damaging |
Het |
4933409G03Rik |
G |
A |
2: 68,419,292 (GRCm39) |
V14I |
probably benign |
Het |
Adgrf5 |
T |
G |
17: 43,761,260 (GRCm39) |
V985G |
probably damaging |
Het |
Ankrd44 |
A |
T |
1: 54,762,197 (GRCm39) |
Y542* |
probably null |
Het |
Atp13a3 |
T |
C |
16: 30,181,396 (GRCm39) |
T75A |
probably damaging |
Het |
Atr |
T |
C |
9: 95,792,702 (GRCm39) |
F1675L |
probably benign |
Het |
Clip1 |
T |
A |
5: 123,768,738 (GRCm39) |
R620S |
probably benign |
Het |
Cped1 |
T |
C |
6: 22,122,293 (GRCm39) |
F391S |
probably benign |
Het |
Cracr2a |
T |
C |
6: 127,602,833 (GRCm39) |
L230P |
probably damaging |
Het |
Dctn1 |
T |
A |
6: 83,176,744 (GRCm39) |
V1266E |
possibly damaging |
Het |
Dlg1 |
T |
A |
16: 31,665,703 (GRCm39) |
F687I |
probably benign |
Het |
Dnah8 |
C |
A |
17: 30,927,419 (GRCm39) |
D1358E |
probably benign |
Het |
Dnajc11 |
A |
G |
4: 152,037,346 (GRCm39) |
R84G |
probably benign |
Het |
Dnajc14 |
C |
A |
10: 128,642,552 (GRCm39) |
T158N |
probably damaging |
Het |
Dscc1 |
A |
G |
15: 54,945,657 (GRCm39) |
L346P |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,990,805 (GRCm39) |
I71V |
probably null |
Het |
Erbb3 |
T |
A |
10: 128,410,248 (GRCm39) |
Q670L |
possibly damaging |
Het |
Ercc4 |
G |
A |
16: 12,962,311 (GRCm39) |
E652K |
probably benign |
Het |
Ercc6l2 |
T |
A |
13: 64,006,071 (GRCm39) |
V591D |
possibly damaging |
Het |
Fam3c |
C |
T |
6: 22,321,369 (GRCm39) |
G134E |
probably damaging |
Het |
Frmd5 |
A |
G |
2: 121,416,927 (GRCm39) |
V70A |
probably benign |
Het |
Gjd3 |
A |
T |
11: 102,691,807 (GRCm39) |
Y65* |
probably null |
Het |
Gm3033 |
A |
C |
14: 3,848,891 (GRCm38) |
L137F |
|
Het |
Gria4 |
C |
A |
9: 4,427,128 (GRCm39) |
A771S |
probably damaging |
Het |
Hc |
A |
G |
2: 34,919,464 (GRCm39) |
L674P |
probably benign |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Hycc2 |
T |
G |
1: 58,587,862 (GRCm39) |
D117A |
possibly damaging |
Het |
Inpp5f |
A |
T |
7: 128,294,032 (GRCm39) |
Y696F |
probably benign |
Het |
Itga11 |
C |
A |
9: 62,639,475 (GRCm39) |
Q157K |
probably damaging |
Het |
Itgb5 |
G |
T |
16: 33,740,357 (GRCm39) |
C489F |
probably damaging |
Het |
Klhl38 |
C |
T |
15: 58,185,938 (GRCm39) |
G264S |
probably benign |
Het |
Krt78 |
C |
T |
15: 101,856,504 (GRCm39) |
V436M |
probably damaging |
Het |
Mia2 |
A |
T |
12: 59,148,365 (GRCm39) |
D75V |
possibly damaging |
Het |
Mphosph6 |
T |
A |
8: 118,525,888 (GRCm39) |
Q20L |
probably damaging |
Het |
Ogfr |
C |
T |
2: 180,237,304 (GRCm39) |
P630S |
possibly damaging |
Het |
Or2c1 |
A |
T |
16: 3,657,394 (GRCm39) |
K186* |
probably null |
Het |
Or4c11 |
G |
A |
2: 88,695,314 (GRCm39) |
V122M |
probably benign |
Het |
Or5an9 |
T |
G |
19: 12,187,617 (GRCm39) |
I229S |
probably damaging |
Het |
Pbx3 |
T |
C |
2: 34,114,631 (GRCm39) |
E101G |
probably damaging |
Het |
Pcca |
T |
A |
14: 123,027,794 (GRCm39) |
N587K |
probably benign |
Het |
Pdia3 |
G |
T |
2: 121,264,011 (GRCm39) |
A287S |
probably damaging |
Het |
Pfas |
T |
A |
11: 68,880,862 (GRCm39) |
D209V |
|
Het |
Pramel29 |
A |
G |
4: 143,936,086 (GRCm39) |
I56T |
probably benign |
Het |
Pter |
A |
T |
2: 12,985,179 (GRCm39) |
I170F |
probably damaging |
Het |
Ptprq |
A |
T |
10: 107,502,428 (GRCm39) |
V830E |
probably damaging |
Het |
Rab11fip5 |
T |
C |
6: 85,318,540 (GRCm39) |
D783G |
probably benign |
Het |
Rbm19 |
T |
C |
5: 120,266,315 (GRCm39) |
V446A |
possibly damaging |
Het |
Selp |
A |
G |
1: 163,959,832 (GRCm39) |
N363D |
probably benign |
Het |
Six2 |
C |
A |
17: 85,992,729 (GRCm39) |
S258I |
possibly damaging |
Het |
Smc1b |
A |
G |
15: 84,953,852 (GRCm39) |
V1139A |
possibly damaging |
Het |
Sp1 |
A |
G |
15: 102,316,843 (GRCm39) |
T121A |
possibly damaging |
Het |
Sucla2 |
A |
T |
14: 73,816,889 (GRCm39) |
I210L |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,176,980 (GRCm39) |
L339P |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,973,635 (GRCm39) |
D794E |
probably benign |
Het |
Usp32 |
C |
T |
11: 84,900,900 (GRCm39) |
V1107I |
probably damaging |
Het |
Vmn1r195 |
T |
C |
13: 22,463,033 (GRCm39) |
Y168H |
probably benign |
Het |
Vmn1r223 |
A |
G |
13: 23,434,060 (GRCm39) |
N218S |
probably damaging |
Het |
Vmn2r25 |
T |
A |
6: 123,800,447 (GRCm39) |
S632C |
probably damaging |
Het |
Vwa3a |
A |
T |
7: 120,375,356 (GRCm39) |
K390I |
probably damaging |
Het |
Zfp442 |
A |
T |
2: 150,251,661 (GRCm39) |
C80* |
probably null |
Het |
Zic1 |
A |
T |
9: 91,246,394 (GRCm39) |
I226N |
probably 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 |
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 |
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'- CTTAGGTACATGATAGACAGAGGACAC -3'
(R):5'- AGCCTCTGTAACTGCCATCG -3'
Sequencing Primer
(F):5'- AGTTTTGCAAAGTCATATAGGTGAC -3'
(R):5'- GCCTCTGTAACTGCCATCGTTAAAC -3'
|
Posted On |
2019-06-07 |