Incidental Mutation 'IGL02215:Gas7'
ID 284829
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 # IGL02215
Quality Score
Status
Chromosome 11
Chromosomal Location 67345917-67575800 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67534158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 86 (H86R)
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 benign
Transcript: ENSMUST00000041611
AA Change: H82R

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000038420
Gene: ENSMUSG00000033066
AA Change: H82R

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 benign
Transcript: ENSMUST00000108680
AA Change: H82R

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104320
Gene: ENSMUSG00000033066
AA Change: H82R

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 benign
Transcript: ENSMUST00000108681
AA Change: H82R

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104321
Gene: ENSMUSG00000033066
AA Change: H82R

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 benign
Transcript: ENSMUST00000108682
AA Change: H86R

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104322
Gene: ENSMUSG00000033066
AA Change: H86R

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: 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
4921511C20Rik T A X: 126,303,196 (GRCm39) S378R probably benign Het
Abca14 T A 7: 119,852,612 (GRCm39) M859K probably benign Het
Adamts13 C T 2: 26,875,495 (GRCm39) P462S probably damaging Het
Apol7a G T 15: 77,277,690 (GRCm39) D19E possibly damaging Het
Armc8 T C 9: 99,366,031 (GRCm39) N628D possibly damaging Het
Astn2 T A 4: 66,184,471 (GRCm39) I209F unknown Het
Atp10b T C 11: 43,085,492 (GRCm39) probably null Het
C4b C T 17: 34,953,465 (GRCm39) C1006Y probably damaging Het
Capn13 A G 17: 73,637,993 (GRCm39) L470P probably damaging Het
Col4a4 T C 1: 82,431,530 (GRCm39) R1585G unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd3 C T 15: 47,449,084 (GRCm39) V3637M probably damaging Het
Dgki C T 6: 36,993,610 (GRCm39) D584N probably damaging Het
Dmrt2 T C 19: 25,655,498 (GRCm39) S366P probably damaging Het
Dmtf1 A C 5: 9,186,070 (GRCm39) L172R probably damaging Het
Efhc2 A G X: 17,096,817 (GRCm39) F177L probably damaging Het
Enpep T A 3: 129,063,926 (GRCm39) probably benign Het
Enpp6 A T 8: 47,518,967 (GRCm39) D245V probably damaging Het
Fam199x T A X: 135,963,399 (GRCm39) probably benign Het
Fkbp4 A T 6: 128,411,433 (GRCm39) probably benign Het
Gcc2 A G 10: 58,107,458 (GRCm39) N862S probably benign Het
Gstm7 T C 3: 107,837,594 (GRCm39) D115G possibly damaging Het
Gtse1 C A 15: 85,746,799 (GRCm39) P205Q possibly damaging Het
H2bc1 A T 13: 24,118,093 (GRCm39) F16Y probably benign Het
Herc4 G A 10: 63,109,345 (GRCm39) M193I probably benign Het
Igfl3 T A 7: 17,913,763 (GRCm39) C38S possibly damaging Het
Il18rap G A 1: 40,587,082 (GRCm39) D455N probably damaging Het
Ints8 A G 4: 11,209,244 (GRCm39) I932T probably damaging Het
Itgbl1 A C 14: 124,209,553 (GRCm39) I311L probably benign Het
Jmjd1c A T 10: 67,056,101 (GRCm39) H794L probably damaging Het
Kif1a A G 1: 92,948,271 (GRCm39) S1542P probably benign Het
Klc3 T A 7: 19,129,750 (GRCm39) N373I probably damaging Het
Lcn2 T C 2: 32,274,877 (GRCm39) *201W probably null Het
Ldhb A T 6: 142,441,292 (GRCm39) probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Npat T A 9: 53,470,417 (GRCm39) S348T probably benign Het
Pclo A T 5: 14,906,999 (GRCm39) D5001V unknown Het
Peg3 C A 7: 6,712,010 (GRCm39) A1071S probably benign Het
Piwil2 A T 14: 70,628,822 (GRCm39) D731E possibly damaging Het
Prss41 T A 17: 24,062,830 (GRCm39) D35V probably benign Het
Ptprz1 T A 6: 22,965,181 (GRCm39) D159E possibly damaging Het
Rabep1 C T 11: 70,814,023 (GRCm39) Q571* probably null Het
Scn8a A G 15: 100,927,453 (GRCm39) probably null Het
Sipa1l2 G A 8: 126,174,576 (GRCm39) T1234I possibly damaging Het
Slc5a10 T A 11: 61,564,738 (GRCm39) M414L probably benign Het
Smg5 T C 3: 88,260,305 (GRCm39) S632P possibly damaging Het
Smim15 A G 13: 108,184,048 (GRCm39) D18G probably benign Het
Sorl1 T A 9: 41,929,478 (GRCm39) I1132F probably damaging Het
Spatc1 T C 15: 76,167,739 (GRCm39) probably benign Het
Sytl2 A T 7: 90,030,422 (GRCm39) probably benign Het
Tesc A G 5: 118,199,683 (GRCm39) D195G probably damaging Het
Tmem39b T A 4: 129,586,311 (GRCm39) probably null Het
Vmn2r52 A G 7: 9,905,029 (GRCm39) V270A probably damaging Het
Wdr3 C A 3: 100,054,016 (GRCm39) probably null Het
Other mutations in Gas7
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16