Incidental Mutation 'IGL03163:Atxn1l'
| ID |
411510 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atxn1l
|
| Ensembl Gene |
ENSMUSG00000069895 |
| Gene Name |
ataxin 1-like |
| Synonyms |
Boat, C330011L24Rik, D8Ertd587e, ENSMUSG00000069895 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
IGL03163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
110453083-110464371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110459017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 415
(N415S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093162]
[ENSMUST00000212605]
[ENSMUST00000212726]
|
| AlphaFold |
P0C7T6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093162
AA Change: N415S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090850
Gene: ENSMUSG00000069895
AA Change: N415S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
155 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
182 |
197 |
N/A |
INTRINSIC |
|
Pfam:AXH
|
467 |
580 |
3.1e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212605
AA Change: N415S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212894
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation display partial postnatal lethality with hydroencephaly, kyphosis, lethargy and cachexia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,228,191 (GRCm39) |
D393V |
probably benign |
Het |
| Amz2 |
C |
A |
11: 109,319,751 (GRCm39) |
Q46K |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,780,681 (GRCm39) |
R1911H |
probably damaging |
Het |
| Apba3 |
A |
G |
10: 81,105,057 (GRCm39) |
|
probably null |
Het |
| Clu |
C |
T |
14: 66,217,235 (GRCm39) |
S356F |
probably benign |
Het |
| Cluh |
T |
C |
11: 74,556,894 (GRCm39) |
V1029A |
probably benign |
Het |
| Creb3 |
C |
T |
4: 43,566,315 (GRCm39) |
L274F |
probably damaging |
Het |
| Dcaf8 |
T |
C |
1: 172,000,475 (GRCm39) |
V211A |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Fam131c |
T |
C |
4: 141,110,069 (GRCm39) |
F156L |
probably damaging |
Het |
| Fbxw21 |
T |
A |
9: 108,974,552 (GRCm39) |
I323F |
probably benign |
Het |
| Fmo9 |
A |
G |
1: 166,502,019 (GRCm39) |
V202A |
possibly damaging |
Het |
| Gipr |
C |
T |
7: 18,896,481 (GRCm39) |
W205* |
probably null |
Het |
| Gm13941 |
A |
T |
2: 110,928,761 (GRCm39) |
I99K |
unknown |
Het |
| Gpr22 |
A |
T |
12: 31,759,171 (GRCm39) |
V317E |
possibly damaging |
Het |
| Hace1 |
T |
C |
10: 45,548,701 (GRCm39) |
I582T |
probably damaging |
Het |
| Iho1 |
G |
T |
9: 108,282,132 (GRCm39) |
L519I |
probably benign |
Het |
| Khdrbs1 |
T |
C |
4: 129,619,508 (GRCm39) |
E211G |
probably benign |
Het |
| Lonrf1 |
T |
C |
8: 36,697,484 (GRCm39) |
D500G |
probably benign |
Het |
| Lrp2 |
A |
C |
2: 69,331,870 (GRCm39) |
Y1628* |
probably null |
Het |
| Lrrc40 |
T |
C |
3: 157,747,224 (GRCm39) |
I112T |
possibly damaging |
Het |
| Matr3 |
G |
A |
18: 35,705,644 (GRCm39) |
D190N |
probably damaging |
Het |
| Or8c16 |
T |
C |
9: 38,130,710 (GRCm39) |
V194A |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,739,212 (GRCm39) |
D2326V |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,222,020 (GRCm39) |
D557G |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,600,801 (GRCm39) |
N194K |
probably damaging |
Het |
| Rasgef1c |
T |
C |
11: 49,862,200 (GRCm39) |
V363A |
possibly damaging |
Het |
| Ric8b |
A |
G |
10: 84,837,686 (GRCm39) |
N498D |
probably damaging |
Het |
| Scn1a |
A |
C |
2: 66,148,418 (GRCm39) |
D22E |
probably benign |
Het |
| Spc25 |
T |
G |
2: 69,027,548 (GRCm39) |
I115L |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,461,266 (GRCm39) |
H3569R |
probably benign |
Het |
| Stra6l |
T |
C |
4: 45,881,455 (GRCm39) |
I439T |
probably benign |
Het |
| Trappc12 |
G |
T |
12: 28,796,653 (GRCm39) |
P293Q |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,155,630 (GRCm39) |
L761P |
possibly damaging |
Het |
| Usp15 |
A |
C |
10: 123,007,049 (GRCm39) |
M144R |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,692 (GRCm39) |
I271V |
probably benign |
Het |
| Zcchc2 |
T |
C |
1: 105,958,841 (GRCm39) |
V1104A |
probably damaging |
Het |
| Zftraf1 |
A |
T |
15: 76,543,474 (GRCm39) |
L13Q |
probably damaging |
Het |
|
| Other mutations in Atxn1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01537:Atxn1l
|
APN |
8 |
110,459,312 (GRCm39) |
missense |
probably benign |
|
|
PIT4791001:Atxn1l
|
UTSW |
8 |
110,458,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0432:Atxn1l
|
UTSW |
8 |
110,458,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Atxn1l
|
UTSW |
8 |
110,459,027 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0684:Atxn1l
|
UTSW |
8 |
110,459,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1241:Atxn1l
|
UTSW |
8 |
110,459,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1488:Atxn1l
|
UTSW |
8 |
110,460,049 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1531:Atxn1l
|
UTSW |
8 |
110,458,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Atxn1l
|
UTSW |
8 |
110,459,240 (GRCm39) |
missense |
probably benign |
|
|
R2484:Atxn1l
|
UTSW |
8 |
110,458,883 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3547:Atxn1l
|
UTSW |
8 |
110,458,981 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4612:Atxn1l
|
UTSW |
8 |
110,458,736 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5499:Atxn1l
|
UTSW |
8 |
110,458,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6946:Atxn1l
|
UTSW |
8 |
110,458,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Atxn1l
|
UTSW |
8 |
110,459,132 (GRCm39) |
missense |
probably benign |
|
|
R7718:Atxn1l
|
UTSW |
8 |
110,459,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8144:Atxn1l
|
UTSW |
8 |
110,459,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8695:Atxn1l
|
UTSW |
8 |
110,458,462 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8719:Atxn1l
|
UTSW |
8 |
110,459,861 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8737:Atxn1l
|
UTSW |
8 |
110,460,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Atxn1l
|
UTSW |
8 |
110,459,117 (GRCm39) |
missense |
probably benign |
|
|
R9519:Atxn1l
|
UTSW |
8 |
110,458,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9545:Atxn1l
|
UTSW |
8 |
110,458,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation