Incidental Mutation 'IGL02130:Atxn7l1'
| ID |
281013 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atxn7l1
|
| Ensembl Gene |
ENSMUSG00000020564 |
| Gene Name |
ataxin 7-like 1 |
| Synonyms |
2810423G08Rik, Atxn7l4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
IGL02130
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
33197692-33423184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33392141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 239
(K239M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090597]
[ENSMUST00000125192]
[ENSMUST00000146040]
[ENSMUST00000154742]
|
| AlphaFold |
Q9CZ05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090597
AA Change: K143M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088085
Gene: ENSMUSG00000020564
AA Change: K143M
| 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 damaging
Transcript: ENSMUST00000125192
AA Change: K239M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118777
Gene: ENSMUSG00000020564
AA Change: K239M
| 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: ENSMUST00000126275
|
| 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: ENSMUST00000146040
AA Change: K239M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000122156
Gene: ENSMUSG00000020564
AA Change: K239M
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154742
AA Change: K143M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122982
Gene: ENSMUSG00000020564
AA Change: K143M
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cep164 |
T |
C |
9: 45,691,090 (GRCm39) |
E1230G |
possibly damaging |
Het |
| Fas |
A |
G |
19: 34,292,695 (GRCm39) |
T101A |
probably benign |
Het |
| Fcnb |
A |
G |
2: 27,974,801 (GRCm39) |
|
probably null |
Het |
| Gm14325 |
A |
G |
2: 177,476,445 (GRCm39) |
|
probably benign |
Het |
| Gm4877 |
A |
T |
6: 42,496,991 (GRCm39) |
|
noncoding transcript |
Het |
| Heyl |
T |
C |
4: 123,140,064 (GRCm39) |
S208P |
probably benign |
Het |
| Ighv10-3 |
A |
T |
12: 114,487,121 (GRCm39) |
L100H |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,267,188 (GRCm39) |
S343G |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,896 (GRCm39) |
V293E |
probably damaging |
Het |
| Mbd3l1 |
A |
T |
9: 18,396,023 (GRCm39) |
R49S |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,076,643 (GRCm39) |
I43T |
possibly damaging |
Het |
| N4bp3 |
T |
C |
11: 51,534,773 (GRCm39) |
E430G |
possibly damaging |
Het |
| Olfml3 |
A |
G |
3: 103,644,283 (GRCm39) |
Y129H |
probably benign |
Het |
| Or4c125 |
C |
A |
2: 89,169,927 (GRCm39) |
V240F |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,654 (GRCm39) |
I71T |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,183,023 (GRCm39) |
V424A |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,230,386 (GRCm39) |
V804E |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,548 (GRCm39) |
L393S |
probably damaging |
Het |
| Rnf20 |
T |
C |
4: 49,644,481 (GRCm39) |
|
probably benign |
Het |
| Slc25a16 |
A |
G |
10: 62,780,137 (GRCm39) |
I299V |
probably benign |
Het |
| Tmprss2 |
A |
T |
16: 97,392,089 (GRCm39) |
C5S |
probably damaging |
Het |
| Trpv3 |
A |
C |
11: 73,170,596 (GRCm39) |
M159L |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,556 (GRCm39) |
M244K |
possibly damaging |
Het |
|
| Other mutations in Atxn7l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3976:Atxn7l1
|
UTSW |
12 |
33,375,954 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation