Incidental Mutation 'R4301:Atxn7l1'
ID |
322424 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn7l1
|
Ensembl Gene |
ENSMUSG00000020564 |
Gene Name |
ataxin 7-like 1 |
Synonyms |
2810423G08Rik, Atxn7l4 |
MMRRC Submission |
041088-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R4301 (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 33417237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 562
(D562G)
|
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: D466G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000088085 Gene: ENSMUSG00000020564 AA Change: D466G
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: D562G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118777 Gene: ENSMUSG00000020564 AA Change: D562G
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: D664G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122156 Gene: ENSMUSG00000020564 AA Change: D664G
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: D466G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122982 Gene: ENSMUSG00000020564 AA Change: D466G
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 |
0.0661 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
A |
16: 56,377,266 (GRCm39) |
V95D |
probably damaging |
Het |
Adamtsl2 |
A |
G |
2: 26,977,295 (GRCm39) |
D252G |
probably null |
Het |
Adgra3 |
T |
C |
5: 50,118,420 (GRCm39) |
R1043G |
possibly damaging |
Het |
Ccdc70 |
T |
C |
8: 22,463,228 (GRCm39) |
V6A |
possibly damaging |
Het |
Cdc25a |
T |
C |
9: 109,718,810 (GRCm39) |
V337A |
probably benign |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Crb1 |
A |
G |
1: 139,176,568 (GRCm39) |
S472P |
probably benign |
Het |
Fam193b |
G |
A |
13: 55,690,417 (GRCm39) |
R740* |
probably null |
Het |
Fer |
G |
T |
17: 64,385,905 (GRCm39) |
L292F |
probably damaging |
Het |
Gmppa |
G |
A |
1: 75,419,140 (GRCm39) |
R349H |
possibly damaging |
Het |
Hspa1a |
T |
C |
17: 35,189,482 (GRCm39) |
I474V |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lrrc30 |
A |
G |
17: 67,939,563 (GRCm39) |
S6P |
probably damaging |
Het |
Lzts3 |
A |
G |
2: 130,478,358 (GRCm39) |
S133P |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,216,169 (GRCm39) |
Y294H |
probably damaging |
Het |
Mtmr12 |
T |
A |
15: 12,236,106 (GRCm39) |
F122I |
possibly damaging |
Het |
Mypn |
A |
G |
10: 62,954,263 (GRCm39) |
Y124H |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,082,327 (GRCm39) |
|
probably benign |
Het |
Npr2 |
T |
C |
4: 43,641,332 (GRCm39) |
|
probably null |
Het |
Or5a3 |
T |
C |
19: 12,400,081 (GRCm39) |
L136P |
probably damaging |
Het |
Pgm2 |
G |
A |
5: 64,261,140 (GRCm39) |
W51* |
probably null |
Het |
Phip |
G |
A |
9: 82,841,766 (GRCm39) |
R48* |
probably null |
Het |
Piezo2 |
T |
C |
18: 63,217,911 (GRCm39) |
T1075A |
probably damaging |
Het |
Ppat |
G |
T |
5: 77,076,348 (GRCm39) |
|
probably benign |
Het |
Ppp2r2b |
T |
A |
18: 43,031,811 (GRCm39) |
E23D |
probably null |
Het |
Prickle1 |
T |
C |
15: 93,406,517 (GRCm39) |
I169V |
possibly damaging |
Het |
Rab37 |
T |
A |
11: 115,049,390 (GRCm39) |
D95E |
possibly damaging |
Het |
Sash1 |
A |
G |
10: 8,627,234 (GRCm39) |
V50A |
probably benign |
Het |
Siae |
C |
A |
9: 37,545,009 (GRCm39) |
Q335K |
possibly damaging |
Het |
Snx14 |
A |
T |
9: 88,292,676 (GRCm39) |
I217K |
probably damaging |
Het |
Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
Sptb |
A |
G |
12: 76,659,471 (GRCm39) |
L1143S |
probably damaging |
Het |
Trim80 |
T |
C |
11: 115,335,939 (GRCm39) |
|
probably null |
Het |
Trpm3 |
T |
C |
19: 22,964,656 (GRCm39) |
S1374P |
probably benign |
Het |
Vldlr |
C |
A |
19: 27,215,802 (GRCm39) |
D266E |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zbtb10 |
A |
T |
3: 9,330,220 (GRCm39) |
Q526L |
probably damaging |
Het |
Zfr2 |
T |
C |
10: 81,078,018 (GRCm39) |
|
probably benign |
Het |
Zswim8 |
G |
A |
14: 20,763,977 (GRCm39) |
R449H |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,779,861 (GRCm39) |
V1878A |
probably damaging |
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 |
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 |
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'- AACCCCAGTGCTGTGTATC -3'
(R):5'- TTTGTGGGGCCCTGACAATG -3'
Sequencing Primer
(F):5'- AGTGCTGTGTATCTTCCTTCAG -3'
(R):5'- GCCCTGACAATGGAGACG -3'
|
Posted On |
2015-06-20 |