Incidental Mutation 'R3856:Atxn7l1'
ID |
276175 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn7l1
|
Ensembl Gene |
ENSMUSG00000020564 |
Gene Name |
ataxin 7-like 1 |
Synonyms |
2810423G08Rik, Atxn7l4 |
MMRRC Submission |
040902-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R3856 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
33197692-33423184 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33417599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 587
(T587A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090597]
[ENSMUST00000125192]
[ENSMUST00000146040]
[ENSMUST00000154742]
|
AlphaFold |
Q9CZ05 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090597
AA Change: T587A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000088085 Gene: ENSMUSG00000020564 AA Change: T587A
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: T683A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118777 Gene: ENSMUSG00000020564 AA Change: T683A
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 |
noncoding transcript
Transcript: ENSMUST00000142184
|
SMART Domains |
Protein: ENSMUSP00000116081 Gene: ENSMUSG00000020564
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
44 |
N/A |
INTRINSIC |
low complexity region
|
110 |
128 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146040
AA Change: T785A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000122156 Gene: ENSMUSG00000020564 AA Change: T785A
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: T587A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122982 Gene: ENSMUSG00000020564 AA Change: T587A
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 |
|
Meta Mutation Damage Score |
0.0748 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.7%
- 20x: 92.4%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
T |
C |
14: 103,292,882 (GRCm39) |
S469P |
possibly damaging |
Het |
Adgrf5 |
A |
T |
17: 43,757,927 (GRCm39) |
N787I |
possibly damaging |
Het |
Ank2 |
T |
C |
3: 126,723,493 (GRCm39) |
T945A |
probably benign |
Het |
Aox4 |
T |
A |
1: 58,293,093 (GRCm39) |
I863N |
probably damaging |
Het |
Ap3d1 |
A |
G |
10: 80,548,019 (GRCm39) |
I891T |
probably benign |
Het |
Apex1 |
A |
G |
14: 51,163,714 (GRCm39) |
T109A |
probably benign |
Het |
Arhgef1 |
G |
A |
7: 24,618,697 (GRCm39) |
G107S |
probably damaging |
Het |
Atxn7l3 |
T |
C |
11: 102,184,729 (GRCm39) |
D128G |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,611,427 (GRCm39) |
Y457C |
probably damaging |
Het |
Ccdc60 |
A |
C |
5: 116,310,514 (GRCm39) |
C183G |
probably damaging |
Het |
Cep131 |
G |
A |
11: 119,958,011 (GRCm39) |
R772* |
probably null |
Het |
Cnst |
C |
T |
1: 179,407,279 (GRCm39) |
P109S |
probably benign |
Het |
Crtc2 |
G |
T |
3: 90,169,877 (GRCm39) |
L509F |
probably damaging |
Het |
Ctsr |
A |
T |
13: 61,309,750 (GRCm39) |
I153N |
possibly damaging |
Het |
Dffa |
A |
T |
4: 149,188,708 (GRCm39) |
M1L |
possibly damaging |
Het |
Dnajc16 |
G |
A |
4: 141,490,964 (GRCm39) |
R729* |
probably null |
Het |
Eef2k |
T |
A |
7: 120,498,594 (GRCm39) |
C91* |
probably null |
Het |
Eml5 |
T |
C |
12: 98,782,283 (GRCm39) |
D1336G |
probably damaging |
Het |
F12 |
G |
A |
13: 55,569,035 (GRCm39) |
|
probably null |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Fbxo40 |
A |
T |
16: 36,789,445 (GRCm39) |
L555Q |
probably damaging |
Het |
Frmpd1 |
T |
C |
4: 45,283,698 (GRCm39) |
S840P |
probably damaging |
Het |
Gadd45a |
C |
T |
6: 67,013,989 (GRCm39) |
|
probably null |
Het |
Galnt7 |
T |
C |
8: 57,985,658 (GRCm39) |
|
probably benign |
Het |
Gm5592 |
G |
A |
7: 40,807,259 (GRCm39) |
|
probably benign |
Het |
Gpr171 |
T |
C |
3: 59,005,506 (GRCm39) |
T90A |
probably damaging |
Het |
Gpr82 |
A |
T |
X: 13,531,577 (GRCm39) |
T42S |
probably benign |
Het |
H2-M10.6 |
T |
A |
17: 37,123,396 (GRCm39) |
I30N |
probably benign |
Het |
Hk2 |
T |
C |
6: 82,713,657 (GRCm39) |
E447G |
possibly damaging |
Het |
Hspa4l |
C |
A |
3: 40,739,821 (GRCm39) |
H698Q |
probably benign |
Het |
Idi1 |
G |
T |
13: 8,935,968 (GRCm39) |
A25S |
probably benign |
Het |
Kdm4a |
C |
T |
4: 118,010,428 (GRCm39) |
R605H |
probably damaging |
Het |
Nhlrc2 |
T |
C |
19: 56,576,703 (GRCm39) |
|
probably null |
Het |
Nt5c2 |
A |
G |
19: 46,884,957 (GRCm39) |
V252A |
probably damaging |
Het |
Or52ae7 |
T |
A |
7: 103,119,867 (GRCm39) |
V207E |
probably damaging |
Het |
Pbp2 |
A |
G |
6: 135,287,143 (GRCm39) |
L68P |
probably benign |
Het |
Pcnx3 |
G |
T |
19: 5,728,995 (GRCm39) |
T547K |
probably benign |
Het |
Ppp1r12a |
T |
C |
10: 108,089,362 (GRCm39) |
|
probably benign |
Het |
Prmt9 |
G |
A |
8: 78,294,894 (GRCm39) |
V413I |
probably benign |
Het |
Pudp |
T |
C |
18: 50,701,124 (GRCm39) |
N203S |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,371,765 (GRCm39) |
|
probably benign |
Het |
Sall3 |
G |
A |
18: 81,015,717 (GRCm39) |
T737M |
probably damaging |
Het |
Scn2b |
A |
G |
9: 45,036,759 (GRCm39) |
N89S |
possibly damaging |
Het |
Sgsm1 |
A |
G |
5: 113,411,125 (GRCm39) |
V580A |
probably benign |
Het |
Slc13a4 |
C |
A |
6: 35,248,539 (GRCm39) |
|
probably null |
Het |
Slc4a4 |
A |
C |
5: 89,380,698 (GRCm39) |
S1015R |
probably benign |
Het |
Slc8a1 |
T |
C |
17: 81,955,803 (GRCm39) |
T412A |
probably benign |
Het |
Spag17 |
A |
T |
3: 100,014,075 (GRCm39) |
D2116V |
probably damaging |
Het |
Trim55 |
T |
C |
3: 19,727,120 (GRCm39) |
F396L |
probably benign |
Het |
Usp54 |
C |
A |
14: 20,638,488 (GRCm39) |
M197I |
probably damaging |
Het |
Vmn1r189 |
A |
T |
13: 22,286,439 (GRCm39) |
F133I |
possibly damaging |
Het |
Zfp735 |
T |
C |
11: 73,602,282 (GRCm39) |
S409P |
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 |
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'- AAAGACCTGTCCGCTCGTAG -3'
(R):5'- TCTGATTTGTCAAAGGAGAGGG -3'
Sequencing Primer
(F):5'- AAGAGGAAGCCGCAGTCCTC -3'
(R):5'- GGCAGAGAAGACACAGCGTTG -3'
|
Posted On |
2015-04-06 |