Incidental Mutation 'R6946:Atxn1l'
ID |
540890 |
Institutional Source |
Beutler Lab
|
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: 0.332)
|
Stock # |
R6946 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
110453083-110464371 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 110458648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Histidine
at position 538
(P538H)
|
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: P538H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090850 Gene: ENSMUSG00000069895 AA Change: P538H
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: P538H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212726
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
Validation Efficiency |
100% (42/42) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
A |
6: 142,624,953 (GRCm39) |
S481C |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,779,968 (GRCm39) |
T1142A |
possibly damaging |
Het |
Carmil1 |
T |
C |
13: 24,299,528 (GRCm39) |
N332S |
possibly damaging |
Het |
Clec4b2 |
C |
T |
6: 123,177,987 (GRCm39) |
Q101* |
probably null |
Het |
Clstn2 |
A |
T |
9: 97,351,875 (GRCm39) |
F517I |
probably damaging |
Het |
Dap3 |
T |
A |
3: 88,845,523 (GRCm39) |
|
probably benign |
Het |
Dgki |
C |
A |
6: 37,276,571 (GRCm39) |
G105* |
probably null |
Het |
Dnm3 |
T |
C |
1: 162,141,224 (GRCm39) |
E345G |
possibly damaging |
Het |
Fam120a |
A |
T |
13: 49,034,496 (GRCm39) |
S1039T |
possibly damaging |
Het |
Gpr132 |
T |
A |
12: 112,815,830 (GRCm39) |
Y332F |
probably benign |
Het |
Ifi44 |
A |
T |
3: 151,451,536 (GRCm39) |
I190N |
possibly damaging |
Het |
Ighv1-42 |
T |
A |
12: 114,901,155 (GRCm39) |
N4Y |
possibly damaging |
Het |
Igll1 |
A |
G |
16: 16,678,920 (GRCm39) |
V130A |
probably damaging |
Het |
Ikzf2 |
T |
A |
1: 69,616,955 (GRCm39) |
K137* |
probably null |
Het |
Klra9 |
T |
A |
6: 130,156,003 (GRCm39) |
I251F |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,587,451 (GRCm39) |
I166V |
probably benign |
Het |
Map3k1 |
C |
T |
13: 111,905,035 (GRCm39) |
W213* |
probably null |
Het |
Map3k12 |
A |
G |
15: 102,413,569 (GRCm39) |
M134T |
possibly damaging |
Het |
Mfsd3 |
T |
A |
15: 76,587,349 (GRCm39) |
M344K |
probably damaging |
Het |
Mier2 |
C |
A |
10: 79,376,673 (GRCm39) |
|
probably benign |
Het |
Nop53 |
C |
T |
7: 15,672,283 (GRCm39) |
R462Q |
probably damaging |
Het |
Oog2 |
A |
T |
4: 143,923,034 (GRCm39) |
D433V |
possibly damaging |
Het |
Or5p76 |
T |
A |
7: 108,122,528 (GRCm39) |
I210F |
probably benign |
Het |
Or7d11 |
A |
T |
9: 19,966,670 (GRCm39) |
L30M |
possibly damaging |
Het |
Or8g30 |
C |
A |
9: 39,230,315 (GRCm39) |
L198F |
probably damaging |
Het |
Or8k38 |
T |
A |
2: 86,487,932 (GRCm39) |
Y290F |
probably damaging |
Het |
Pan2 |
A |
G |
10: 128,151,506 (GRCm39) |
T867A |
probably benign |
Het |
Pcdhb3 |
T |
A |
18: 37,435,672 (GRCm39) |
L546Q |
probably damaging |
Het |
Plcg2 |
A |
T |
8: 118,230,929 (GRCm39) |
M4L |
probably benign |
Het |
Prss21 |
T |
C |
17: 24,087,138 (GRCm39) |
S24P |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,661,545 (GRCm39) |
D1815G |
probably damaging |
Het |
Scd4 |
A |
G |
19: 44,321,953 (GRCm39) |
E8G |
probably null |
Het |
Sec31b |
T |
C |
19: 44,522,755 (GRCm39) |
D79G |
probably damaging |
Het |
Siah1a |
G |
T |
8: 87,451,770 (GRCm39) |
A238E |
probably damaging |
Het |
Spag17 |
G |
A |
3: 99,911,999 (GRCm39) |
E290K |
possibly damaging |
Het |
Srl |
T |
C |
16: 4,300,423 (GRCm39) |
I883V |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,288 (GRCm39) |
L142S |
probably damaging |
Het |
Trgv1 |
T |
C |
13: 19,524,190 (GRCm39) |
L2P |
probably benign |
Het |
Ttn |
A |
T |
2: 76,580,199 (GRCm39) |
W23565R |
probably damaging |
Het |
Vipr2 |
A |
T |
12: 116,102,819 (GRCm39) |
T310S |
possibly damaging |
Het |
Zfp112 |
A |
T |
7: 23,824,766 (GRCm39) |
N245Y |
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 |
|
IGL03163:Atxn1l
|
APN |
8 |
110,459,017 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCACATAGGTCTCTGGGC -3'
(R):5'- ATCATTCAGCTGGCTACAGGG -3'
Sequencing Primer
(F):5'- AAGACTGTCCTCTCAGGCC -3'
(R):5'- TGGCTACAGGGGAGCTG -3'
|
Posted On |
2018-11-28 |