Incidental Mutation 'IGL01634:Gas7'
ID93578
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? Non essential (E-score: 0.000) question?
Stock #IGL01634
Quality Score
Status
Chromosome11
Chromosomal Location67455437-67688990 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 67674231 bp
ZygosityHeterozygous
Amino Acid Change
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 benign
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 benign
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 benign
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 benign
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: ENSMUST00000140863
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A T 1: 191,900,904 noncoding transcript Het
4933421I07Rik C T 7: 42,447,699 D63N probably benign Het
Alg9 C A 9: 50,775,377 probably null Het
Anln T C 9: 22,360,475 T695A probably benign Het
Aox4 G T 1: 58,221,930 D141Y possibly damaging Het
Arhgap21 C A 2: 20,914,644 Q84H probably benign Het
Arnt G A 3: 95,470,398 probably benign Het
Atp8a2 T A 14: 59,998,062 Y677F probably benign Het
Car6 C T 4: 150,198,153 V12M probably benign Het
Cd209d A T 8: 3,877,974 probably null Het
Ctnna1 T A 18: 35,223,448 V390E probably damaging Het
Cypt4 T A 9: 24,625,656 N147K possibly damaging Het
Dnah10 C A 5: 124,821,341 A3729E probably damaging Het
Dusp8 A G 7: 142,084,423 V156A probably benign Het
Ecm1 G A 3: 95,734,899 P458L probably damaging Het
Fat3 T G 9: 15,998,358 Y2116S probably damaging Het
Fscn3 T A 6: 28,430,538 Y236N probably damaging Het
Gaa G A 11: 119,274,076 S265N possibly damaging Het
Gbp8 T C 5: 105,018,572 K297R probably damaging Het
Gm1818 G A 12: 48,556,209 noncoding transcript Het
Gm5114 G T 7: 39,408,647 T516K probably benign Het
Hectd1 A G 12: 51,803,779 S165P probably damaging Het
Hoxb4 G T 11: 96,318,900 R44L probably damaging Het
Ivd G A 2: 118,876,382 R285H probably damaging Het
Krtap20-2 T C 16: 89,206,089 F59S unknown Het
Megf8 G A 7: 25,358,781 probably benign Het
Mgat4d A T 8: 83,368,116 M261L possibly damaging Het
Mlc1 A T 15: 88,974,718 probably benign Het
Mmp20 T A 9: 7,635,148 Y43* probably null Het
Morc3 G A 16: 93,873,237 V767I probably benign Het
Myo15 A G 11: 60,495,472 T1808A probably damaging Het
Notch4 T C 17: 34,572,588 F574L probably damaging Het
Npas3 G A 12: 53,947,163 V164M probably damaging Het
Nptx1 A G 11: 119,544,672 Y273H probably damaging Het
Oaf T C 9: 43,224,004 N159S probably damaging Het
Olfr1216 T A 2: 89,013,444 I207F probably damaging Het
Olfr519 A T 7: 108,894,085 F107L probably benign Het
Olfr994 A T 2: 85,430,439 L130H probably damaging Het
Pgm1 T C 5: 64,100,974 F101L probably benign Het
Pkd1l3 A C 8: 109,667,525 probably null Het
Plcd1 C T 9: 119,073,789 R527H probably damaging Het
Rexo2 C T 9: 48,468,915 E206K probably damaging Het
Ropn1 C A 16: 34,666,778 T28N possibly damaging Het
Ropn1 A T 16: 34,666,771 I26F probably damaging Het
Rpgrip1l T A 8: 91,252,544 S998C probably benign Het
Rpgrip1l C A 8: 91,252,543 S998I probably benign Het
Scap T C 9: 110,378,789 probably null Het
Sec23b T C 2: 144,559,230 Y4H probably damaging Het
Sfrp4 C A 13: 19,623,630 D66E possibly damaging Het
Slc25a36 T C 9: 97,080,481 T13A probably benign Het
Synpr A T 14: 13,608,576 I119F possibly damaging Het
Tamm41 A C 6: 115,016,098 H109Q probably benign Het
Tet1 A T 10: 62,878,588 I476K possibly damaging Het
Tg A T 15: 66,729,566 I142F probably benign Het
Thada A T 17: 84,393,358 probably null Het
Triobp T C 15: 78,993,368 L1654P probably damaging Het
Trpm7 A G 2: 126,826,818 V726A probably damaging Het
Txndc15 T G 13: 55,721,625 V197G probably damaging Het
Ubr3 A T 2: 69,973,572 T1169S probably benign Het
Uhmk1 C T 1: 170,207,113 probably null Het
Vmn2r16 T A 5: 109,340,311 M350K probably benign Het
Vmn2r77 G A 7: 86,811,649 V728I probably benign Het
Wipf1 G A 2: 73,447,881 P7S unknown Het
Zswim3 A G 2: 164,820,002 D134G probably damaging Het
Other mutations in Gas7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Gas7 APN 11 67652914 critical splice donor site probably null
IGL02215:Gas7 APN 11 67643332 missense probably benign 0.33
IGL02338:Gas7 APN 11 67682731 missense probably damaging 0.99
IGL02547:Gas7 APN 11 67665435 missense probably damaging 0.99
IGL02679:Gas7 APN 11 67675727 splice site probably null
IGL02959:Gas7 APN 11 67674235 splice site probably benign
BB007:Gas7 UTSW 11 67665391 missense probably damaging 1.00
BB017:Gas7 UTSW 11 67665391 missense probably damaging 1.00
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
R6885:Gas7 UTSW 11 67683387 missense probably damaging 0.99
R6914:Gas7 UTSW 11 67660151 splice site probably null
R6942:Gas7 UTSW 11 67660151 splice site probably null
R7930:Gas7 UTSW 11 67665391 missense probably damaging 1.00
R8070:Gas7 UTSW 11 67683434 missense probably damaging 1.00
R8358:Gas7 UTSW 11 67652908 missense probably benign 0.03
Posted On2013-12-09