Incidental Mutation 'R2369:Atxn7l1'
ID |
246439 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn7l1
|
Ensembl Gene |
ENSMUSG00000020564 |
Gene Name |
ataxin 7-like 1 |
Synonyms |
2810423G08Rik, Atxn7l4 |
MMRRC Submission |
040349-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R2369 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
33197692-33423184 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 33408849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090597]
[ENSMUST00000125192]
[ENSMUST00000125192]
[ENSMUST00000146040]
[ENSMUST00000146040]
[ENSMUST00000154742]
|
AlphaFold |
Q9CZ05 |
Predicted Effect |
probably null
Transcript: ENSMUST00000090597
|
SMART Domains |
Protein: ENSMUSP00000088085 Gene: ENSMUSG00000020564
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 null
Transcript: ENSMUST00000125192
|
SMART Domains |
Protein: ENSMUSP00000118777 Gene: ENSMUSG00000020564
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 |
probably null
Transcript: ENSMUST00000125192
|
SMART Domains |
Protein: ENSMUSP00000118777 Gene: ENSMUSG00000020564
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: ENSMUST00000138617
|
Predicted Effect |
probably null
Transcript: ENSMUST00000146040
|
SMART Domains |
Protein: ENSMUSP00000122156 Gene: ENSMUSG00000020564
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 null
Transcript: ENSMUST00000146040
|
SMART Domains |
Protein: ENSMUSP00000122156 Gene: ENSMUSG00000020564
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 null
Transcript: ENSMUST00000154742
|
SMART Domains |
Protein: ENSMUSP00000122982 Gene: ENSMUSG00000020564
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700066M21Rik |
A |
T |
1: 57,421,950 (GRCm39) |
N109Y |
possibly damaging |
Het |
9230112D13Rik |
A |
T |
14: 34,233,913 (GRCm39) |
I126N |
unknown |
Het |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Ahcyl1 |
T |
C |
3: 107,577,556 (GRCm39) |
D288G |
probably damaging |
Het |
Ccdc33 |
A |
T |
9: 57,983,913 (GRCm39) |
S220T |
probably benign |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Cubn |
T |
A |
2: 13,496,028 (GRCm39) |
K69N |
probably damaging |
Het |
Dclk3 |
A |
G |
9: 111,317,610 (GRCm39) |
R749G |
probably benign |
Het |
Dip2a |
T |
C |
10: 76,149,030 (GRCm39) |
N207S |
probably benign |
Het |
Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
Esco2 |
G |
A |
14: 66,059,189 (GRCm39) |
A496V |
probably damaging |
Het |
Gbp5 |
A |
T |
3: 142,206,480 (GRCm39) |
M55L |
possibly damaging |
Het |
Grik5 |
T |
C |
7: 24,757,962 (GRCm39) |
Y373C |
probably damaging |
Het |
Hbs1l |
T |
A |
10: 21,183,644 (GRCm39) |
S128R |
probably benign |
Het |
Ing3 |
A |
G |
6: 21,950,090 (GRCm39) |
M28V |
probably damaging |
Het |
Lmtk3 |
A |
T |
7: 45,444,512 (GRCm39) |
|
probably benign |
Het |
Met |
G |
A |
6: 17,531,527 (GRCm39) |
V602I |
probably benign |
Het |
Ndufaf7 |
C |
A |
17: 79,252,461 (GRCm39) |
A290E |
probably damaging |
Het |
Notch4 |
A |
G |
17: 34,804,924 (GRCm39) |
Q1593R |
probably benign |
Het |
Npl |
A |
G |
1: 153,394,623 (GRCm39) |
|
probably null |
Het |
Paqr6 |
T |
C |
3: 88,273,260 (GRCm39) |
L84P |
probably damaging |
Het |
Pros1 |
A |
G |
16: 62,748,432 (GRCm39) |
Y635C |
probably damaging |
Het |
Rad1 |
C |
A |
15: 10,486,745 (GRCm39) |
N47K |
probably damaging |
Het |
Rassf4 |
A |
G |
6: 116,615,258 (GRCm39) |
F304L |
probably damaging |
Het |
Tmem232 |
A |
T |
17: 65,709,992 (GRCm39) |
V432E |
probably damaging |
Het |
Wdr72 |
A |
G |
9: 74,117,457 (GRCm39) |
K723R |
possibly damaging |
Het |
Xpo7 |
G |
A |
14: 70,925,171 (GRCm39) |
R493* |
probably null |
Het |
Zfp11 |
G |
A |
5: 129,733,529 (GRCm39) |
P644L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGCAGTACTTCTTCAAACC -3'
(R):5'- AAGTTGGTTCCCAGGAGCAC -3'
Sequencing Primer
(F):5'- GTACTTCTTCAAACCACAGCGG -3'
(R):5'- GGTTCCCAGGAGCACTTATATAGAC -3'
|
Posted On |
2014-10-30 |