Incidental Mutation 'IGL01396:Gas7'
ID 79468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gas7
Ensembl Gene ENSMUSG00000033066
Gene Name growth arrest specific 7
Synonyms Gas7-cb, B230343A10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01396
Quality Score
Status
Chromosome 11
Chromosomal Location 67345917-67575800 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 67543740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041611] [ENSMUST00000108680] [ENSMUST00000108681] [ENSMUST00000108682]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000041611
SMART Domains Protein: ENSMUSP00000038420
Gene: ENSMUSG00000033066

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000108680
SMART Domains Protein: ENSMUSP00000104320
Gene: ENSMUSG00000033066

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000108681
SMART Domains Protein: ENSMUSP00000104321
Gene: ENSMUSG00000033066

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000108682
SMART Domains Protein: ENSMUSP00000104322
Gene: ENSMUSG00000033066

DomainStartEndE-ValueType
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: ENSMUST00000136796
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140863
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151784
Coding Region Coverage
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,649 (GRCm39) Y469N probably benign Het
Actl11 T C 9: 107,805,964 (GRCm39) S96P possibly damaging Het
Ankrd13b T A 11: 77,363,198 (GRCm39) probably null Het
Apobec4 T A 1: 152,632,017 (GRCm39) I15K probably damaging Het
Arhgef28 G T 13: 98,090,401 (GRCm39) D1039E probably damaging Het
Atp1a1 C T 3: 101,498,769 (GRCm39) G175R probably damaging Het
AU040320 T A 4: 126,763,171 (GRCm39) probably benign Het
Bcl9l G A 9: 44,418,121 (GRCm39) R653H probably damaging Het
Ccdc141 T A 2: 76,958,669 (GRCm39) I144L possibly damaging Het
Cdh20 C T 1: 104,875,154 (GRCm39) T312I possibly damaging Het
Cdh23 C T 10: 60,220,848 (GRCm39) V1297I possibly damaging Het
Cfap57 T C 4: 118,467,792 (GRCm39) Y315C probably damaging Het
Chd8 A G 14: 52,442,044 (GRCm39) probably benign Het
Cog5 A G 12: 31,944,095 (GRCm39) D660G probably benign Het
Cps1 T C 1: 67,196,945 (GRCm39) I332T probably damaging Het
Csgalnact2 T C 6: 118,103,288 (GRCm39) T225A probably damaging Het
Dchs1 A G 7: 105,421,490 (GRCm39) L310P probably damaging Het
Dgki T C 6: 36,977,025 (GRCm39) N695S probably damaging Het
Gm21286 T C 4: 60,794,323 (GRCm39) noncoding transcript Het
Gm4799 C T 10: 82,790,518 (GRCm39) noncoding transcript Het
Hdac4 T C 1: 91,887,196 (GRCm39) probably benign Het
Hif1a T A 12: 73,987,307 (GRCm39) S467T probably benign Het
Ier5 A G 1: 154,974,296 (GRCm39) V294A probably damaging Het
Ifna11 T C 4: 88,738,314 (GRCm39) V40A probably benign Het
Itga9 T C 9: 118,436,191 (GRCm39) probably benign Het
Lbx1 G T 19: 45,222,670 (GRCm39) Q118K probably benign Het
Lta A T 17: 35,423,061 (GRCm39) probably null Het
Matr3 A G 18: 35,721,442 (GRCm39) Y471C probably damaging Het
Nrg2 A T 18: 36,178,905 (GRCm39) probably benign Het
Or4c103 C T 2: 88,513,575 (GRCm39) C167Y probably damaging Het
Or4k51 T C 2: 111,584,848 (GRCm39) F85L probably benign Het
Or4k51 T A 2: 111,584,948 (GRCm39) M118K probably damaging Het
Or5l13 G T 2: 87,780,207 (GRCm39) F123L probably damaging Het
Patl1 A G 19: 11,901,247 (GRCm39) K299R probably damaging Het
Pdgfrb A G 18: 61,205,736 (GRCm39) E574G probably damaging Het
Phf3 G A 1: 30,843,386 (GRCm39) Q1858* probably null Het
Prkca T C 11: 107,905,148 (GRCm39) K197E possibly damaging Het
Psmc6 C A 14: 45,581,124 (GRCm39) Q307K probably benign Het
Rasa1 T C 13: 85,406,561 (GRCm39) I181V probably benign Het
Scel A G 14: 103,845,530 (GRCm39) probably benign Het
Scn5a A T 9: 119,363,770 (GRCm39) S457T probably damaging Het
Sesn3 A G 9: 14,232,374 (GRCm39) T216A probably benign Het
Slc25a21 A G 12: 57,205,974 (GRCm39) V19A probably benign Het
Slc34a1 A G 13: 55,550,546 (GRCm39) T81A probably damaging Het
Slc35a5 A G 16: 44,971,866 (GRCm39) Y117H probably damaging Het
Sptbn4 A G 7: 27,114,196 (GRCm39) V569A probably benign Het
Sqle A G 15: 59,195,723 (GRCm39) Y333C probably damaging Het
Svep1 T C 4: 58,068,552 (GRCm39) E3078G possibly damaging Het
Tacc2 T A 7: 130,360,919 (GRCm39) I2737N probably damaging Het
Tet3 A T 6: 83,346,620 (GRCm39) Y1272* probably null Het
Tnr G T 1: 159,724,594 (GRCm39) R1095L possibly damaging Het
Vmn1r184 T C 7: 25,966,862 (GRCm39) S203P probably damaging Het
Vmn2r94 A G 17: 18,477,301 (GRCm39) L370P probably damaging Het
Xrcc5 A G 1: 72,393,404 (GRCm39) H559R probably benign Het
Other mutations in Gas7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6631:Gas7 UTSW 11 67,565,107 (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
Posted On 2013-11-05