Incidental Mutation 'R6631:Gas7'
| ID |
525150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gas7
|
| Ensembl Gene |
ENSMUSG00000033066 |
| Gene Name |
growth arrest specific 7 |
| Synonyms |
Gas7-cb, B230343A10Rik |
| MMRRC Submission |
044753-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6631 (G1)
|
| Quality Score |
165.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
67345917-67575800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67565107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 250
(N250S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021289]
[ENSMUST00000041611]
[ENSMUST00000108680]
[ENSMUST00000108681]
[ENSMUST00000108682]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021289
|
| SMART Domains |
Protein: ENSMUSP00000021289
Gene: ENSMUSG00000049928
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_2
|
17 |
225 |
4.8e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041611
AA Change: N246S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038420
Gene: ENSMUSG00000033066
AA Change: N246S
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
14 |
46 |
1.39e-11 |
SMART |
|
FCH
|
146 |
232 |
6.62e-25 |
SMART |
|
coiled coil region
|
260 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108680
AA Change: N246S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104320
Gene: ENSMUSG00000033066
AA Change: N246S
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
14 |
46 |
1.39e-11 |
SMART |
|
FCH
|
146 |
232 |
6.62e-25 |
SMART |
|
coiled coil region
|
260 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108681
AA Change: N246S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104321
Gene: ENSMUSG00000033066
AA Change: N246S
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
14 |
46 |
1.39e-11 |
SMART |
|
FCH
|
146 |
232 |
6.62e-25 |
SMART |
|
coiled coil region
|
260 |
304 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108682
AA Change: N250S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104322
Gene: ENSMUSG00000033066
AA Change: N250S
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
18 |
50 |
1.39e-11 |
SMART |
|
FCH
|
150 |
236 |
6.62e-25 |
SMART |
|
coiled coil region
|
264 |
308 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140863
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151784
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
96% (50/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Aged mice homozygous for a hypomorphic allele show impaired coordination, decreased grip strength, decreased motor neuron number, muscle weakness, abnormal skeletal muscle fiber type ratio in the soleus muscle, and defects in motor neuron axon terminal sprouting. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
A |
T |
9: 15,203,326 (GRCm39) |
N159K |
probably damaging |
Het |
| Arhgef10l |
T |
C |
4: 140,245,058 (GRCm39) |
|
probably benign |
Het |
| Atosa |
A |
G |
9: 74,861,107 (GRCm39) |
D4G |
possibly damaging |
Het |
| Avil |
A |
G |
10: 126,843,618 (GRCm39) |
S153G |
possibly damaging |
Het |
| C2cd3 |
G |
A |
7: 100,067,747 (GRCm39) |
D877N |
probably damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,519,405 (GRCm39) |
A257V |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,202,931 (GRCm39) |
H366L |
probably benign |
Het |
| Cyp2c37 |
C |
T |
19: 39,998,287 (GRCm39) |
S393L |
probably damaging |
Het |
| Defb8 |
T |
A |
8: 19,495,950 (GRCm39) |
I37L |
probably benign |
Het |
| Dennd4b |
C |
A |
3: 90,185,039 (GRCm39) |
|
probably null |
Het |
| Eps8l2 |
G |
A |
7: 140,936,115 (GRCm39) |
R223H |
probably damaging |
Het |
| Erbin |
A |
G |
13: 103,961,400 (GRCm39) |
L1302P |
probably benign |
Het |
| Exoc3l |
A |
G |
8: 106,021,993 (GRCm39) |
W37R |
probably damaging |
Het |
| Fap |
T |
C |
2: 62,333,725 (GRCm39) |
N668S |
probably damaging |
Het |
| H2bc12 |
T |
A |
13: 22,220,391 (GRCm39) |
V112E |
probably damaging |
Het |
| Hivep1 |
C |
A |
13: 42,309,956 (GRCm39) |
P732Q |
probably damaging |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Itgb8 |
A |
T |
12: 119,144,712 (GRCm39) |
L332* |
probably null |
Het |
| Kctd19 |
A |
G |
8: 106,111,960 (GRCm39) |
|
probably null |
Het |
| Kif14 |
G |
A |
1: 136,443,697 (GRCm39) |
S1290N |
probably benign |
Het |
| Klk1b3 |
C |
T |
7: 43,850,888 (GRCm39) |
T140I |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,081,477 (GRCm39) |
N1305D |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,410,201 (GRCm39) |
V1515E |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,813,440 (GRCm39) |
|
probably null |
Het |
| Mocos |
A |
G |
18: 24,832,988 (GRCm39) |
T818A |
probably benign |
Het |
| Mpc2 |
G |
T |
1: 165,307,081 (GRCm39) |
W94L |
probably benign |
Het |
| Mrc1 |
G |
A |
2: 14,243,296 (GRCm39) |
V141I |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,697,663 (GRCm39) |
T538A |
probably benign |
Het |
| Ndufs3 |
G |
A |
2: 90,732,744 (GRCm39) |
T114M |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,157,621 (GRCm39) |
C320R |
probably damaging |
Het |
| Or5b117 |
T |
A |
19: 13,431,185 (GRCm39) |
Q232L |
probably benign |
Het |
| Pcdha11 |
G |
T |
18: 37,138,844 (GRCm39) |
A158S |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,109 (GRCm39) |
D388E |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,712,069 (GRCm39) |
E1051G |
possibly damaging |
Het |
| Phlda2 |
T |
A |
7: 143,055,918 (GRCm39) |
I104F |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,339 (GRCm39) |
S1604P |
possibly damaging |
Het |
| Pomt2 |
C |
T |
12: 87,186,417 (GRCm39) |
|
probably null |
Het |
| Ppp6r2 |
G |
A |
15: 89,137,458 (GRCm39) |
|
probably null |
Het |
| Prdm2 |
T |
G |
4: 142,861,454 (GRCm39) |
Q612P |
probably benign |
Het |
| Prr5 |
C |
A |
15: 84,586,978 (GRCm39) |
R243S |
probably damaging |
Het |
| Ptgdr2 |
T |
C |
19: 10,918,233 (GRCm39) |
I250T |
probably benign |
Het |
| Rad54l2 |
A |
T |
9: 106,590,739 (GRCm39) |
C462* |
probably null |
Het |
| Sec16a |
T |
A |
2: 26,329,969 (GRCm39) |
E682V |
probably damaging |
Het |
| Serpina3i |
A |
G |
12: 104,232,725 (GRCm39) |
D210G |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,114,748 (GRCm39) |
D326E |
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,209,374 (GRCm39) |
E829G |
probably damaging |
Het |
| Steap4 |
G |
A |
5: 8,026,995 (GRCm39) |
W319* |
probably null |
Het |
| Taar8c |
A |
G |
10: 23,977,701 (GRCm39) |
V37A |
probably benign |
Het |
| Tdrd12 |
T |
A |
7: 35,184,654 (GRCm39) |
Y753F |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,937,222 (GRCm39) |
S3770G |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,708,460 (GRCm39) |
N48S |
possibly damaging |
Het |
| Zfp558 |
C |
A |
9: 18,368,219 (GRCm39) |
G190* |
probably null |
Het |
|
| Other mutations in Gas7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01396:Gas7
|
APN |
11 |
67,543,740 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01634:Gas7
|
APN |
11 |
67,565,057 (GRCm39) |
splice site |
probably benign |
|
|
IGL02215:Gas7
|
APN |
11 |
67,534,158 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02338:Gas7
|
APN |
11 |
67,573,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02547:Gas7
|
APN |
11 |
67,556,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02679:Gas7
|
APN |
11 |
67,566,553 (GRCm39) |
splice site |
probably null |
|
|
IGL02959:Gas7
|
APN |
11 |
67,565,061 (GRCm39) |
splice site |
probably benign |
|
|
BB007:Gas7
|
UTSW |
11 |
67,556,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB017:Gas7
|
UTSW |
11 |
67,556,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Gas7
|
UTSW |
11 |
67,534,163 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0335:Gas7
|
UTSW |
11 |
67,552,878 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0931:Gas7
|
UTSW |
11 |
67,543,751 (GRCm39) |
splice site |
probably benign |
|
|
R1165:Gas7
|
UTSW |
11 |
67,561,512 (GRCm39) |
splice site |
probably benign |
|
|
R1459:Gas7
|
UTSW |
11 |
67,552,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2425:Gas7
|
UTSW |
11 |
67,534,121 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4953:Gas7
|
UTSW |
11 |
67,550,876 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4969:Gas7
|
UTSW |
11 |
67,574,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5327:Gas7
|
UTSW |
11 |
67,552,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6145:Gas7
|
UTSW |
11 |
67,520,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Gas7
|
UTSW |
11 |
67,574,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6914:Gas7
|
UTSW |
11 |
67,550,977 (GRCm39) |
splice site |
probably null |
|
|
R6942:Gas7
|
UTSW |
11 |
67,550,977 (GRCm39) |
splice site |
probably null |
|
|
R7930:Gas7
|
UTSW |
11 |
67,556,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8070:Gas7
|
UTSW |
11 |
67,574,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8358:Gas7
|
UTSW |
11 |
67,543,734 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9166:Gas7
|
UTSW |
11 |
67,561,446 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTTGATATATGGGCTGGAGAAG -3'
(R):5'- CCACATGGATGGATGCGAGTTC -3'
Sequencing Primer
(F):5'- CTGGAGAAGTAGGTCAGTGC -3'
(R):5'- GATGCGAGTTCCTTGGACTACC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation