Incidental Mutation 'R8470:Atxn7l2'
| ID |
656983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn7l2
|
| Ensembl Gene |
ENSMUSG00000048997 |
| Gene Name |
ataxin 7-like 2 |
| Synonyms |
2610528J18Rik |
| MMRRC Submission |
067914-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.374)
|
| Stock # |
R8470 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108109538-108117843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108114285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 159
(T159M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102633]
[ENSMUST00000117409]
[ENSMUST00000117784]
[ENSMUST00000119650]
[ENSMUST00000127157]
[ENSMUST00000141387]
|
| AlphaFold |
Q8C8K6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102633
AA Change: T159M
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000099693
Gene: ENSMUSG00000048997
AA Change: T159M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
63 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
198 |
265 |
3.9e-29 |
PFAM |
|
low complexity region
|
333 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117409
AA Change: T127M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112976
Gene: ENSMUSG00000048997
AA Change: T127M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
63 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
164 |
235 |
1.2e-31 |
PFAM |
|
low complexity region
|
301 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
500 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117784
AA Change: T159M
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000114031
Gene: ENSMUSG00000048997
AA Change: T159M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
63 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
196 |
267 |
1.6e-31 |
PFAM |
|
low complexity region
|
333 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119650
AA Change: T124M
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113020
Gene: ENSMUSG00000048997
AA Change: T124M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
28 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
161 |
232 |
1.2e-31 |
PFAM |
|
low complexity region
|
298 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127157
|
| SMART Domains |
Protein: ENSMUSP00000119223
Gene: ENSMUSG00000048997
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C2H2
|
23 |
45 |
1e-5 |
BLAST |
|
low complexity region
|
55 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141387
|
| SMART Domains |
Protein: ENSMUSP00000116756
Gene: ENSMUSG00000027887
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
65 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
107 |
309 |
7.2e-41 |
PFAM |
|
low complexity region
|
318 |
326 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abraxas2 |
A |
T |
7: 132,476,685 (GRCm39) |
I142F |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,984,496 (GRCm39) |
Y56H |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,618,357 (GRCm39) |
D2801G |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,489,269 (GRCm39) |
I301T |
probably benign |
Het |
| B130006D01Rik |
C |
T |
11: 95,617,175 (GRCm39) |
|
probably benign |
Het |
| Btf3l4b |
C |
A |
13: 96,217,432 (GRCm39) |
D136Y |
possibly damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,202,392 (GRCm39) |
K301R |
probably damaging |
Het |
| Cecr2 |
A |
T |
6: 120,733,894 (GRCm39) |
Q627L |
probably benign |
Het |
| Cerkl |
C |
A |
2: 79,172,751 (GRCm39) |
M307I |
probably benign |
Het |
| Eif2ak4 |
A |
G |
2: 118,293,207 (GRCm39) |
I1254M |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,664,510 (GRCm39) |
T37A |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,171,931 (GRCm39) |
V1857A |
probably damaging |
Het |
| Gm3486 |
T |
C |
14: 41,206,538 (GRCm39) |
|
probably null |
Het |
| Il1r2 |
T |
C |
1: 40,162,416 (GRCm39) |
V353A |
probably damaging |
Het |
| Irgq |
A |
T |
7: 24,233,715 (GRCm39) |
R519W |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,652,950 (GRCm39) |
S16C |
probably damaging |
Het |
| Myo9a |
T |
G |
9: 59,739,573 (GRCm39) |
C762G |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,606,374 (GRCm39) |
V454E |
probably damaging |
Het |
| Or10h5 |
A |
G |
17: 33,434,868 (GRCm39) |
V150A |
probably benign |
Het |
| Or4p20 |
A |
T |
2: 88,254,228 (GRCm39) |
I47N |
probably damaging |
Het |
| Or7g35 |
T |
G |
9: 19,496,265 (GRCm39) |
L144R |
probably damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,145,937 (GRCm39) |
K676R |
probably benign |
Het |
| Pknox2 |
C |
T |
9: 36,834,986 (GRCm39) |
R161H |
probably damaging |
Het |
| Prr5l |
T |
C |
2: 101,547,430 (GRCm39) |
N365S |
probably benign |
Het |
| Prrg4 |
A |
G |
2: 104,679,501 (GRCm39) |
L8P |
probably damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,453,595 (GRCm39) |
|
probably null |
Het |
| Rtp4 |
A |
T |
16: 23,428,827 (GRCm39) |
H30L |
probably benign |
Het |
| Rxfp2 |
T |
G |
5: 149,993,834 (GRCm39) |
I632S |
possibly damaging |
Het |
| Spata31h1 |
A |
C |
10: 82,126,314 (GRCm39) |
F2232C |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,070,758 (GRCm39) |
E1533D |
possibly damaging |
Het |
| Ssbp1 |
A |
G |
6: 40,454,941 (GRCm39) |
I133M |
probably damaging |
Het |
| Stap1 |
A |
G |
5: 86,242,602 (GRCm39) |
I188V |
possibly damaging |
Het |
| Topaz1 |
T |
C |
9: 122,603,173 (GRCm39) |
M1040T |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,887,501 (GRCm39) |
F877L |
possibly damaging |
Het |
| Ush1c |
A |
G |
7: 45,858,674 (GRCm39) |
L538P |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,904,162 (GRCm39) |
A1364T |
probably benign |
Het |
|
| Other mutations in Atxn7l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01994:Atxn7l2
|
APN |
3 |
108,110,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02381:Atxn7l2
|
APN |
3 |
108,111,811 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03179:Atxn7l2
|
APN |
3 |
108,110,963 (GRCm39) |
nonsense |
probably null |
|
|
R0610:Atxn7l2
|
UTSW |
3 |
108,112,090 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1454:Atxn7l2
|
UTSW |
3 |
108,115,748 (GRCm39) |
unclassified |
probably benign |
|
|
R2474:Atxn7l2
|
UTSW |
3 |
108,111,293 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4319:Atxn7l2
|
UTSW |
3 |
108,113,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4322:Atxn7l2
|
UTSW |
3 |
108,113,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4324:Atxn7l2
|
UTSW |
3 |
108,113,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Atxn7l2
|
UTSW |
3 |
108,111,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Atxn7l2
|
UTSW |
3 |
108,112,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Atxn7l2
|
UTSW |
3 |
108,112,978 (GRCm39) |
splice site |
probably null |
|
|
R7706:Atxn7l2
|
UTSW |
3 |
108,114,719 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8109:Atxn7l2
|
UTSW |
3 |
108,110,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Atxn7l2
|
UTSW |
3 |
108,114,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8984:Atxn7l2
|
UTSW |
3 |
108,116,290 (GRCm39) |
unclassified |
probably benign |
|
|
R9011:Atxn7l2
|
UTSW |
3 |
108,114,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9784:Atxn7l2
|
UTSW |
3 |
108,110,565 (GRCm39) |
missense |
probably null |
0.90 |
|
Z1176:Atxn7l2
|
UTSW |
3 |
108,112,982 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGTCCCACGTCCATAAC -3'
(R):5'- AGTTCACCCAAGCTCCAGAG -3'
Sequencing Primer
(F):5'- ATAACTACTCACGAGCCATCTTTCGG -3'
(R):5'- TGGGCTAGAGTCCAGACC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation