Incidental Mutation 'R4324:Atxn7l2'
| ID |
323949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn7l2
|
| Ensembl Gene |
ENSMUSG00000048997 |
| Gene Name |
ataxin 7-like 2 |
| Synonyms |
2610528J18Rik |
| MMRRC Submission |
041095-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R4324 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108109538-108117843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108113148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 218
(D218E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065664]
[ENSMUST00000102633]
[ENSMUST00000106655]
[ENSMUST00000117409]
[ENSMUST00000117784]
[ENSMUST00000119650]
[ENSMUST00000127157]
|
| AlphaFold |
Q8C8K6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065664
|
| SMART Domains |
Protein: ENSMUSP00000070361
Gene: ENSMUSG00000048796
| Domain | Start | End | E-Value | Type |
|---|
|
B561
|
1 |
127 |
5.49e-40 |
SMART |
|
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102633
AA Change: D253E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099693
Gene: ENSMUSG00000048997
AA Change: D253E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
63 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
198 |
265 |
3.9e-29 |
PFAM |
|
low complexity region
|
333 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106655
|
| SMART Domains |
Protein: ENSMUSP00000102266
Gene: ENSMUSG00000048796
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
B561
|
54 |
185 |
4.96e-47 |
SMART |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117409
AA Change: D221E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112976
Gene: ENSMUSG00000048997
AA Change: D221E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
63 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
164 |
235 |
1.2e-31 |
PFAM |
|
low complexity region
|
301 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
500 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117784
AA Change: D253E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114031
Gene: ENSMUSG00000048997
AA Change: D253E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
55 |
63 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
196 |
267 |
1.6e-31 |
PFAM |
|
low complexity region
|
333 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119650
AA Change: D218E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113020
Gene: ENSMUSG00000048997
AA Change: D218E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
28 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
161 |
232 |
1.2e-31 |
PFAM |
|
low complexity region
|
298 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
480 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127157
|
| SMART Domains |
Protein: ENSMUSP00000119223
Gene: ENSMUSG00000048997
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_C2H2
|
23 |
45 |
1e-5 |
BLAST |
|
low complexity region
|
55 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155099
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Alg9 |
T |
G |
9: 50,716,643 (GRCm39) |
H22Q |
probably damaging |
Het |
| Aqp6 |
G |
A |
15: 99,499,291 (GRCm39) |
M1I |
probably null |
Het |
| Arhgef10 |
T |
A |
8: 14,990,335 (GRCm39) |
I270N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Atg10 |
T |
A |
13: 91,189,085 (GRCm39) |
D75V |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdan1 |
T |
C |
2: 120,555,460 (GRCm39) |
I760M |
probably damaging |
Het |
| Cdk14 |
T |
A |
5: 5,086,532 (GRCm39) |
K263* |
probably null |
Het |
| Cdk5rap2 |
A |
T |
4: 70,271,851 (GRCm39) |
I287N |
probably damaging |
Het |
| Cdkn2aip |
A |
T |
8: 48,165,208 (GRCm39) |
S168R |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,985,039 (GRCm39) |
V1555M |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,789,123 (GRCm39) |
T471A |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,330,618 (GRCm39) |
E478G |
possibly damaging |
Het |
| Enc1 |
T |
C |
13: 97,382,405 (GRCm39) |
F305S |
probably benign |
Het |
| Epn1 |
T |
A |
7: 5,100,210 (GRCm39) |
M441K |
probably benign |
Het |
| Fbxw24 |
C |
T |
9: 109,434,013 (GRCm39) |
|
probably null |
Het |
| Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| H2-K2 |
C |
T |
17: 34,219,014 (GRCm39) |
V30M |
possibly damaging |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,450,182 (GRCm39) |
M505L |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 64,973,788 (GRCm39) |
I355V |
probably benign |
Het |
| Or5p53 |
C |
T |
7: 107,532,900 (GRCm39) |
P58S |
probably damaging |
Het |
| Pcbp3 |
G |
A |
10: 76,599,177 (GRCm39) |
R109* |
probably null |
Het |
| Pcgf1 |
T |
C |
6: 83,056,938 (GRCm39) |
|
probably null |
Het |
| Plekhm2 |
A |
T |
4: 141,359,168 (GRCm39) |
V533E |
possibly damaging |
Het |
| Prss3 |
T |
G |
6: 41,350,779 (GRCm39) |
D237A |
probably benign |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Shc4 |
T |
A |
2: 125,520,670 (GRCm39) |
M260L |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,605,099 (GRCm39) |
Y151C |
probably benign |
Het |
| Stac3 |
C |
T |
10: 127,339,118 (GRCm39) |
P76S |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 57,035,169 (GRCm39) |
I255V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,738,923 (GRCm39) |
E3872G |
probably benign |
Het |
| Uqcrfs1 |
A |
G |
13: 30,725,141 (GRCm39) |
V133A |
probably benign |
Het |
| Vmn2r52 |
T |
A |
7: 9,904,940 (GRCm39) |
T300S |
possibly damaging |
Het |
| Wipi1 |
A |
T |
11: 109,494,662 (GRCm39) |
I57N |
possibly damaging |
Het |
|
| Other mutations in Atxn7l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01994:Atxn7l2
|
APN |
3 |
108,110,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02381:Atxn7l2
|
APN |
3 |
108,111,811 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03179:Atxn7l2
|
APN |
3 |
108,110,963 (GRCm39) |
nonsense |
probably null |
|
|
R0610:Atxn7l2
|
UTSW |
3 |
108,112,090 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1454:Atxn7l2
|
UTSW |
3 |
108,115,748 (GRCm39) |
unclassified |
probably benign |
|
|
R2474:Atxn7l2
|
UTSW |
3 |
108,111,293 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4319:Atxn7l2
|
UTSW |
3 |
108,113,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4322:Atxn7l2
|
UTSW |
3 |
108,113,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Atxn7l2
|
UTSW |
3 |
108,111,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Atxn7l2
|
UTSW |
3 |
108,112,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Atxn7l2
|
UTSW |
3 |
108,112,978 (GRCm39) |
splice site |
probably null |
|
|
R7706:Atxn7l2
|
UTSW |
3 |
108,114,719 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8109:Atxn7l2
|
UTSW |
3 |
108,110,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8470:Atxn7l2
|
UTSW |
3 |
108,114,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8768:Atxn7l2
|
UTSW |
3 |
108,114,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8984:Atxn7l2
|
UTSW |
3 |
108,116,290 (GRCm39) |
unclassified |
probably benign |
|
|
R9011:Atxn7l2
|
UTSW |
3 |
108,114,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9784:Atxn7l2
|
UTSW |
3 |
108,110,565 (GRCm39) |
missense |
probably null |
0.90 |
|
Z1176:Atxn7l2
|
UTSW |
3 |
108,112,982 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCACAGTACGGATAGGTCTG -3'
(R):5'- AGATCCCTTACCCAGAGGAG -3'
Sequencing Primer
(F):5'- CACAGTACGGATAGGTCTGCTTAGAC -3'
(R):5'- CCTTACCCAGAGGAGAGTTTTCG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation