Incidental Mutation 'R3976:Atxn7l1'
ID |
312649 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn7l1
|
Ensembl Gene |
ENSMUSG00000020564 |
Gene Name |
ataxin 7-like 1 |
Synonyms |
2810423G08Rik, Atxn7l4 |
MMRRC Submission |
040842-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R3976 (G1)
|
Quality Score |
210 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
33197692-33423184 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33375954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 10
(S10P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090597]
[ENSMUST00000125192]
[ENSMUST00000136644]
[ENSMUST00000144586]
[ENSMUST00000154742]
[ENSMUST00000146040]
|
AlphaFold |
Q9CZ05 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090597
AA Change: S10P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000088085 Gene: ENSMUSG00000020564 AA Change: S10P
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
low complexity region
|
95 |
110 |
N/A |
INTRINSIC |
Pfam:SCA7
|
143 |
220 |
2.5e-31 |
PFAM |
low complexity region
|
274 |
288 |
N/A |
INTRINSIC |
low complexity region
|
380 |
392 |
N/A |
INTRINSIC |
low complexity region
|
471 |
501 |
N/A |
INTRINSIC |
low complexity region
|
519 |
538 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125192
AA Change: S106P
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000118777 Gene: ENSMUSG00000020564 AA Change: S106P
Domain | Start | End | E-Value | Type |
low complexity region
|
95 |
114 |
N/A |
INTRINSIC |
low complexity region
|
191 |
206 |
N/A |
INTRINSIC |
Pfam:SCA7
|
246 |
314 |
2e-28 |
PFAM |
low complexity region
|
370 |
384 |
N/A |
INTRINSIC |
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
low complexity region
|
567 |
597 |
N/A |
INTRINSIC |
low complexity region
|
615 |
634 |
N/A |
INTRINSIC |
low complexity region
|
792 |
810 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130740
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133549
|
SMART Domains |
Protein: ENSMUSP00000120569 Gene: ENSMUSG00000020564
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
low complexity region
|
95 |
110 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136644
AA Change: S83P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
silent
Transcript: ENSMUST00000144586
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145589
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154742
AA Change: S10P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122982 Gene: ENSMUSG00000020564 AA Change: S10P
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
low complexity region
|
95 |
110 |
N/A |
INTRINSIC |
Pfam:SCA7
|
150 |
218 |
1.3e-31 |
PFAM |
low complexity region
|
274 |
288 |
N/A |
INTRINSIC |
low complexity region
|
380 |
392 |
N/A |
INTRINSIC |
low complexity region
|
471 |
501 |
N/A |
INTRINSIC |
low complexity region
|
519 |
538 |
N/A |
INTRINSIC |
low complexity region
|
696 |
714 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155386
|
SMART Domains |
Protein: ENSMUSP00000115463 Gene: ENSMUSG00000020564
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146040
AA Change: S106P
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000122156 Gene: ENSMUSG00000020564 AA Change: S106P
Domain | Start | End | E-Value | Type |
low complexity region
|
95 |
114 |
N/A |
INTRINSIC |
low complexity region
|
191 |
206 |
N/A |
INTRINSIC |
Pfam:SCA7
|
246 |
314 |
2.3e-28 |
PFAM |
low complexity region
|
370 |
384 |
N/A |
INTRINSIC |
low complexity region
|
526 |
540 |
N/A |
INTRINSIC |
low complexity region
|
578 |
590 |
N/A |
INTRINSIC |
low complexity region
|
669 |
699 |
N/A |
INTRINSIC |
low complexity region
|
717 |
736 |
N/A |
INTRINSIC |
low complexity region
|
894 |
912 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1276 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
Validation Efficiency |
98% (49/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,039,615 (GRCm39) |
D466G |
probably benign |
Het |
Asb4 |
A |
T |
6: 5,390,771 (GRCm39) |
M55L |
probably benign |
Het |
Bola3 |
T |
C |
6: 83,328,249 (GRCm39) |
L45P |
probably benign |
Het |
Cacna2d4 |
A |
G |
6: 119,255,134 (GRCm39) |
|
probably null |
Het |
Cfap54 |
A |
G |
10: 92,675,333 (GRCm39) |
S2863P |
possibly damaging |
Het |
Cyb5r3 |
A |
G |
15: 83,044,330 (GRCm39) |
V180A |
possibly damaging |
Het |
Dglucy |
A |
T |
12: 100,807,648 (GRCm39) |
T186S |
probably benign |
Het |
Eml5 |
A |
T |
12: 98,768,724 (GRCm39) |
|
probably benign |
Het |
Fam90a1a |
G |
A |
8: 22,451,432 (GRCm39) |
D98N |
probably damaging |
Het |
Fbxo16 |
T |
A |
14: 65,524,606 (GRCm39) |
L42Q |
probably damaging |
Het |
Fbxw16 |
A |
G |
9: 109,268,697 (GRCm39) |
V231A |
probably benign |
Het |
Fermt3 |
G |
A |
19: 6,979,792 (GRCm39) |
A447V |
possibly damaging |
Het |
Fignl2 |
A |
G |
15: 100,950,467 (GRCm39) |
L605P |
unknown |
Het |
Gcsam |
T |
G |
16: 45,440,192 (GRCm39) |
N78K |
probably damaging |
Het |
Gdf2 |
T |
A |
14: 33,666,791 (GRCm39) |
V171D |
probably damaging |
Het |
Gm28042 |
C |
T |
2: 119,867,237 (GRCm39) |
H218Y |
probably benign |
Het |
Herpud2 |
A |
G |
9: 25,021,734 (GRCm39) |
V304A |
probably damaging |
Het |
Kcnma1 |
C |
T |
14: 24,053,815 (GRCm39) |
|
probably null |
Het |
Lrp3 |
T |
C |
7: 34,903,530 (GRCm39) |
D251G |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,852,339 (GRCm39) |
V957A |
possibly damaging |
Het |
Mepe |
C |
T |
5: 104,484,944 (GRCm39) |
P28L |
probably benign |
Het |
Muc2 |
T |
A |
7: 141,300,541 (GRCm39) |
|
probably benign |
Het |
Nt5dc2 |
T |
C |
14: 30,860,832 (GRCm39) |
S439P |
probably damaging |
Het |
Opn4 |
C |
T |
14: 34,319,066 (GRCm39) |
R173H |
probably benign |
Het |
Or2k2 |
A |
G |
4: 58,785,164 (GRCm39) |
L186P |
probably damaging |
Het |
Or4f14 |
C |
T |
2: 111,742,951 (GRCm39) |
G108D |
possibly damaging |
Het |
Phf8-ps |
A |
T |
17: 33,285,405 (GRCm39) |
S466T |
probably benign |
Het |
Ppp1r12a |
T |
C |
10: 108,089,341 (GRCm39) |
V660A |
probably benign |
Het |
Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
Rab18 |
T |
A |
18: 6,778,529 (GRCm39) |
D53E |
probably benign |
Het |
Rel |
A |
G |
11: 23,692,939 (GRCm39) |
S365P |
probably benign |
Het |
Rhbg |
C |
A |
3: 88,151,843 (GRCm39) |
G383V |
probably damaging |
Het |
Rnps1-ps |
A |
T |
6: 7,983,149 (GRCm39) |
|
noncoding transcript |
Het |
Rp1l1 |
T |
A |
14: 64,267,758 (GRCm39) |
Y1115N |
probably damaging |
Het |
Runx2 |
T |
C |
17: 44,920,966 (GRCm39) |
T339A |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,506,182 (GRCm39) |
E3455G |
possibly damaging |
Het |
Serpina1d |
A |
T |
12: 103,734,107 (GRCm39) |
S66T |
probably benign |
Het |
Setd3 |
T |
C |
12: 108,131,417 (GRCm39) |
K3R |
possibly damaging |
Het |
Spg7 |
A |
G |
8: 123,806,187 (GRCm39) |
D299G |
probably damaging |
Het |
Sptbn5 |
C |
T |
2: 119,878,742 (GRCm39) |
|
noncoding transcript |
Het |
Srcap |
A |
G |
7: 127,148,411 (GRCm39) |
T1859A |
probably benign |
Het |
Suox |
A |
G |
10: 128,506,906 (GRCm39) |
V374A |
probably damaging |
Het |
Tesk1 |
C |
T |
4: 43,445,786 (GRCm39) |
P280S |
possibly damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
Tubal3 |
C |
T |
13: 3,982,946 (GRCm39) |
S242L |
probably benign |
Het |
Ugt2b1 |
C |
A |
5: 87,065,534 (GRCm39) |
V502L |
probably benign |
Het |
|
Other mutations in Atxn7l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02130:Atxn7l1
|
APN |
12 |
33,392,141 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02146:Atxn7l1
|
APN |
12 |
33,418,030 (GRCm39) |
missense |
probably benign |
|
IGL02202:Atxn7l1
|
APN |
12 |
33,392,077 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02804:Atxn7l1
|
APN |
12 |
33,417,788 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03344:Atxn7l1
|
APN |
12 |
33,376,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R0270:Atxn7l1
|
UTSW |
12 |
33,392,150 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0621:Atxn7l1
|
UTSW |
12 |
33,376,099 (GRCm39) |
missense |
probably benign |
0.15 |
R1840:Atxn7l1
|
UTSW |
12 |
33,421,032 (GRCm39) |
splice site |
probably null |
|
R1856:Atxn7l1
|
UTSW |
12 |
33,408,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Atxn7l1
|
UTSW |
12 |
33,408,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Atxn7l1
|
UTSW |
12 |
33,395,976 (GRCm39) |
missense |
probably benign |
|
R2249:Atxn7l1
|
UTSW |
12 |
33,408,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R2369:Atxn7l1
|
UTSW |
12 |
33,408,849 (GRCm39) |
critical splice donor site |
probably null |
|
R3695:Atxn7l1
|
UTSW |
12 |
33,408,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R3856:Atxn7l1
|
UTSW |
12 |
33,417,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R4151:Atxn7l1
|
UTSW |
12 |
33,414,481 (GRCm39) |
missense |
probably damaging |
0.96 |
R4301:Atxn7l1
|
UTSW |
12 |
33,417,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R4305:Atxn7l1
|
UTSW |
12 |
33,391,991 (GRCm39) |
missense |
probably damaging |
0.99 |
R4411:Atxn7l1
|
UTSW |
12 |
33,244,886 (GRCm39) |
intron |
probably benign |
|
R4763:Atxn7l1
|
UTSW |
12 |
33,408,877 (GRCm39) |
intron |
probably benign |
|
R5049:Atxn7l1
|
UTSW |
12 |
33,408,686 (GRCm39) |
missense |
probably benign |
0.00 |
R5090:Atxn7l1
|
UTSW |
12 |
33,376,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R5134:Atxn7l1
|
UTSW |
12 |
33,422,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R5425:Atxn7l1
|
UTSW |
12 |
33,417,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R6161:Atxn7l1
|
UTSW |
12 |
33,408,662 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6813:Atxn7l1
|
UTSW |
12 |
33,417,123 (GRCm39) |
missense |
probably damaging |
0.96 |
R7248:Atxn7l1
|
UTSW |
12 |
33,417,194 (GRCm39) |
missense |
probably benign |
0.26 |
R7328:Atxn7l1
|
UTSW |
12 |
33,198,502 (GRCm39) |
critical splice donor site |
probably null |
|
R8020:Atxn7l1
|
UTSW |
12 |
33,375,952 (GRCm39) |
missense |
probably benign |
0.10 |
R8057:Atxn7l1
|
UTSW |
12 |
33,376,001 (GRCm39) |
missense |
probably damaging |
0.99 |
R8353:Atxn7l1
|
UTSW |
12 |
33,197,882 (GRCm39) |
missense |
probably damaging |
0.99 |
R8523:Atxn7l1
|
UTSW |
12 |
33,396,023 (GRCm39) |
missense |
probably benign |
|
R9051:Atxn7l1
|
UTSW |
12 |
33,417,420 (GRCm39) |
missense |
probably benign |
0.00 |
R9350:Atxn7l1
|
UTSW |
12 |
33,417,315 (GRCm39) |
missense |
probably benign |
0.01 |
R9789:Atxn7l1
|
UTSW |
12 |
33,396,062 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Atxn7l1
|
UTSW |
12 |
33,418,016 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Atxn7l1
|
UTSW |
12 |
33,417,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTAAGTTGGCACTGACGGC -3'
(R):5'- TGGACTCACCATGGTTTATCC -3'
Sequencing Primer
(F):5'- TGACGGCCAACATCAGAGC -3'
(R):5'- CCTTGGTCCCTTTGCAGAGAAG -3'
|
Posted On |
2015-04-30 |