Incidental Mutation 'R2474:Atxn7l2'
| ID |
253257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn7l2
|
| Ensembl Gene |
ENSMUSG00000048997 |
| Gene Name |
ataxin 7-like 2 |
| Synonyms |
2610528J18Rik |
| MMRRC Submission |
040405-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.384)
|
| Stock # |
R2474 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108109538-108117843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 108111293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 414
(S414R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065664]
[ENSMUST00000102633]
[ENSMUST00000106654]
[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 benign
Transcript: ENSMUST00000102633
AA Change: S449R
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000099693
Gene: ENSMUSG00000048997
AA Change: S449R
| 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: ENSMUST00000106654
|
| SMART Domains |
Protein: ENSMUSP00000102265
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 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 |
possibly damaging
Transcript: ENSMUST00000117409
AA Change: S417R
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112976
Gene: ENSMUSG00000048997
AA Change: S417R
| 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 benign
Transcript: ENSMUST00000117784
AA Change: S449R
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114031
Gene: ENSMUSG00000048997
AA Change: S449R
| 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: S414R
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113020
Gene: ENSMUSG00000048997
AA Change: S414R
| 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 |
noncoding transcript
Transcript: ENSMUST00000141054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196823
|
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
G |
3: 151,248,361 (GRCm39) |
T678A |
probably benign |
Het |
| Asb7 |
A |
T |
7: 66,328,901 (GRCm39) |
N46K |
probably damaging |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cxcl13 |
C |
T |
5: 96,107,816 (GRCm39) |
Q91* |
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,404,281 (GRCm39) |
N2754D |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,422,045 (GRCm39) |
V125E |
probably damaging |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| Greb1 |
T |
C |
12: 16,764,954 (GRCm39) |
N393S |
possibly damaging |
Het |
| Hfm1 |
A |
T |
5: 107,020,282 (GRCm39) |
V1048D |
possibly damaging |
Het |
| Ilvbl |
T |
C |
10: 78,412,558 (GRCm39) |
V93A |
probably damaging |
Het |
| Itpkb |
A |
G |
1: 180,161,716 (GRCm39) |
D614G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lgi3 |
G |
A |
14: 70,770,689 (GRCm39) |
|
probably null |
Het |
| Mpeg1 |
G |
A |
19: 12,439,613 (GRCm39) |
C357Y |
probably damaging |
Het |
| Nedd1 |
A |
G |
10: 92,555,465 (GRCm39) |
F7L |
probably damaging |
Het |
| Or8g26 |
A |
G |
9: 39,095,846 (GRCm39) |
D121G |
probably damaging |
Het |
| Or8k35 |
C |
A |
2: 86,424,957 (GRCm39) |
V72F |
probably benign |
Het |
| Parp8 |
A |
T |
13: 117,029,577 (GRCm39) |
C510S |
possibly damaging |
Het |
| Phb1 |
T |
C |
11: 95,562,248 (GRCm39) |
F42L |
possibly damaging |
Het |
| Pik3r1 |
A |
T |
13: 101,839,284 (GRCm39) |
Y189* |
probably null |
Het |
| Rps5 |
T |
A |
7: 12,660,488 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Senp3 |
T |
A |
11: 69,564,923 (GRCm39) |
N516Y |
probably damaging |
Het |
| Tfap2b |
A |
T |
1: 19,284,599 (GRCm39) |
H169L |
possibly damaging |
Het |
| Tmem260 |
A |
G |
14: 48,733,781 (GRCm39) |
D226G |
probably null |
Het |
| Ttc6 |
G |
T |
12: 57,622,713 (GRCm39) |
R37S |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,222,392 (GRCm39) |
D609E |
possibly damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,598,891 (GRCm39) |
M192L |
probably benign |
Het |
| Zfp746 |
T |
C |
6: 48,041,703 (GRCm39) |
D341G |
probably damaging |
Het |
| Zfp941 |
A |
T |
7: 140,391,384 (GRCm39) |
H658Q |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 48,978,105 (GRCm39) |
I351N |
probably 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 |
|
|
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 |
|
R4324: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'- CTTGCTGAAGGACGGAGATG -3'
(R):5'- GTTCCATTGTCTCCCAGCAG -3'
Sequencing Primer
(F):5'- CAGCGGTGAGGTAATAGCCTG -3'
(R):5'- CAGGGGGCAGCAGTCTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation