Incidental Mutation 'IGL02547:Gas7'
ID297892
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gas7
Ensembl Gene ENSMUSG00000033066
Gene Namegrowth arrest specific 7
SynonymsB230343A10Rik, Gas7-cb
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.623) question?
Stock #IGL02547
Quality Score
Status
Chromosome11
Chromosomal Location67455437-67688990 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 67665435 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 200 (Q200L)
Ref Sequence ENSEMBL: ENSMUSP00000104322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021289] [ENSMUST00000041611] [ENSMUST00000108680] [ENSMUST00000108681] [ENSMUST00000108682]
Predicted Effect probably benign
Transcript: ENSMUST00000021289
SMART Domains Protein: ENSMUSP00000021289
Gene: ENSMUSG00000049928

DomainStartEndE-ValueType
Pfam:7tm_2 17 225 4.8e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000041611
AA Change: Q196L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038420
Gene: ENSMUSG00000033066
AA Change: Q196L

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 damaging
Transcript: ENSMUST00000108680
AA Change: Q196L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104320
Gene: ENSMUSG00000033066
AA Change: Q196L

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 damaging
Transcript: ENSMUST00000108681
AA Change: Q196L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104321
Gene: ENSMUSG00000033066
AA Change: Q196L

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 damaging
Transcript: ENSMUST00000108682
AA Change: Q200L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104322
Gene: ENSMUSG00000033066
AA Change: Q200L

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430403G16Rik C T 5: 109,678,762 probably null Het
Akap6 T A 12: 53,140,696 L1631H probably damaging Het
Atf7ip T A 6: 136,603,276 probably benign Het
Atp5o A T 16: 91,928,961 Y48N probably damaging Het
Birc6 T G 17: 74,579,645 M656R probably benign Het
Camkk1 A G 11: 73,038,433 R455G probably benign Het
Casr A T 16: 36,515,674 M91K probably benign Het
Ccdc28a A T 10: 18,214,146 V124D possibly damaging Het
Ccnh T C 13: 85,202,504 probably benign Het
Cdc37 G T 9: 21,139,966 probably benign Het
Cdon A G 9: 35,478,654 D868G probably damaging Het
Cyp4f15 A G 17: 32,700,255 R351G probably benign Het
Dclk3 T C 9: 111,469,023 I545T probably damaging Het
Dock4 A G 12: 40,737,479 M798V probably benign Het
Gm15448 T C 7: 3,821,661 D573G probably damaging Het
Gm4758 A T 16: 36,312,526 probably benign Het
Gm6614 A T 6: 141,990,390 L323Q probably damaging Het
Ica1 T C 6: 8,670,691 probably null Het
Idh3a T A 9: 54,592,395 V31D probably benign Het
Il3ra A T 14: 14,351,970 T247S probably benign Het
Itgb7 A G 15: 102,218,510 C497R probably damaging Het
Itm2c T C 1: 85,906,461 Y166H probably damaging Het
Mphosph8 A G 14: 56,672,484 D98G probably damaging Het
Mstn A T 1: 53,064,125 I207F probably benign Het
Muc15 A G 2: 110,731,305 R29G probably damaging Het
Neb T A 2: 52,188,730 T142S probably damaging Het
Nipbl G A 15: 8,351,598 T570I probably benign Het
Nr5a2 T A 1: 136,940,927 M196L probably benign Het
Nrp1 C A 8: 128,493,031 F643L probably benign Het
Olfr1098 A G 2: 86,923,028 F168S probably damaging Het
Olfr1441 A T 19: 12,422,311 M1L probably benign Het
Olfr600 A G 7: 103,346,244 F228S probably damaging Het
Olfr625-ps1 T C 7: 103,682,766 I16T probably benign Het
Osbpl9 C T 4: 109,068,483 W446* probably null Het
Pced1a T C 2: 130,419,707 D342G possibly damaging Het
Prkcd C A 14: 30,599,469 W555L probably damaging Het
Prpf31 T C 7: 3,630,899 S78P probably benign Het
Psg27 T C 7: 18,560,628 T285A probably benign Het
Retreg3 A T 11: 101,106,378 L92* probably null Het
Rmdn1 A G 4: 19,605,501 K282E possibly damaging Het
Sept8 G T 11: 53,537,265 R302L probably damaging Het
Serpina3a A G 12: 104,116,543 I192V probably damaging Het
Sgce T C 6: 4,711,301 probably benign Het
Spats1 A T 17: 45,474,817 probably benign Het
Tcerg1l C T 7: 138,248,371 probably null Het
Ttn A G 2: 76,729,386 V21230A probably damaging Het
Ubxn11 A C 4: 134,109,584 D41A possibly damaging Het
Vps13c T G 9: 67,908,019 I979S possibly damaging Het
Zc3h6 T A 2: 129,015,611 H683Q probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp629 T C 7: 127,611,674 probably null Het
Other mutations in Gas7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Gas7 APN 11 67652914 critical splice donor site probably null
IGL01634:Gas7 APN 11 67674231 splice site probably benign
IGL02215:Gas7 APN 11 67643332 missense probably benign 0.33
IGL02338:Gas7 APN 11 67682731 missense probably damaging 0.99
IGL02679:Gas7 APN 11 67675727 splice site probably null
IGL02959:Gas7 APN 11 67674235 splice site probably benign
R0029:Gas7 UTSW 11 67643337 missense probably benign 0.05
R0335:Gas7 UTSW 11 67662052 missense possibly damaging 0.84
R0931:Gas7 UTSW 11 67652925 splice site probably benign
R1165:Gas7 UTSW 11 67670686 splice site probably benign
R1459:Gas7 UTSW 11 67662076 missense probably damaging 1.00
R2425:Gas7 UTSW 11 67643295 missense probably benign 0.00
R4953:Gas7 UTSW 11 67660050 missense possibly damaging 0.69
R4969:Gas7 UTSW 11 67683408 missense probably damaging 0.98
R5327:Gas7 UTSW 11 67662090 missense probably damaging 1.00
R6145:Gas7 UTSW 11 67629612 missense probably damaging 1.00
R6631:Gas7 UTSW 11 67674281 missense probably damaging 1.00
R6883:Gas7 UTSW 11 67683387 missense probably damaging 0.99
R6914:Gas7 UTSW 11 67660151 intron probably null
R6942:Gas7 UTSW 11 67660151 intron probably null
Posted On2015-04-16