Incidental Mutation 'IGL01977:Arhgap35'
ID181739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap35
Ensembl Gene ENSMUSG00000058230
Gene NameRho GTPase activating protein 35
Synonymsp190RhoGAP, p190A, Grlf1, P190 RhoGAP, 6430596G11Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01977
Quality Score
Status
Chromosome7
Chromosomal Location16493719-16614993 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 16563203 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 646 (L646F)
Ref Sequence ENSEMBL: ENSMUSP00000127379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075845] [ENSMUST00000171937]
Predicted Effect probably damaging
Transcript: ENSMUST00000075845
AA Change: L646F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075242
Gene: ENSMUSG00000058230
AA Change: L646F

DomainStartEndE-ValueType
Pfam:Ras 154 249 6.1e-7 PFAM
FF 270 327 5.76e-9 SMART
FF 369 422 1.1e-5 SMART
FF 429 483 7.43e-12 SMART
FF 485 539 2.02e-4 SMART
Blast:RhoGAP 733 796 1e-7 BLAST
low complexity region 1037 1048 N/A INTRINSIC
low complexity region 1214 1225 N/A INTRINSIC
low complexity region 1227 1235 N/A INTRINSIC
RhoGAP 1259 1433 8.14e-72 SMART
low complexity region 1444 1457 N/A INTRINSIC
low complexity region 1462 1494 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171937
AA Change: L646F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127379
Gene: ENSMUSG00000058230
AA Change: L646F

DomainStartEndE-ValueType
Pfam:Ras 154 249 6e-7 PFAM
FF 270 327 5.76e-9 SMART
FF 369 422 1.1e-5 SMART
FF 429 483 7.43e-12 SMART
FF 485 539 2.02e-4 SMART
Blast:RhoGAP 733 796 1e-7 BLAST
low complexity region 1037 1048 N/A INTRINSIC
low complexity region 1214 1225 N/A INTRINSIC
low complexity region 1227 1235 N/A INTRINSIC
RhoGAP 1259 1433 8.14e-72 SMART
low complexity region 1444 1457 N/A INTRINSIC
low complexity region 1462 1494 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die within 2 days of birth and never survive beyond 3 weeks. Observed phenotypes include defects in eye morphogenesis, forebrain development, neural tube closure, axon guidance and fasciculation, and renal abnormalities, including hypoplastic and glomerulocystic kidneys, associated with a ciliogenesis defect. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 80,006,152 S1040T probably benign Het
Adam25 T C 8: 40,755,097 Y467H probably benign Het
Ank1 A G 8: 23,115,433 I1061V probably benign Het
Anxa10 T C 8: 62,076,314 E123G probably damaging Het
Atp8b5 A G 4: 43,320,590 probably null Het
Brap A G 5: 121,678,847 probably benign Het
Carmil3 A G 14: 55,493,536 T87A probably damaging Het
Ccdc172 A G 19: 58,552,877 D256G possibly damaging Het
Cep350 C T 1: 155,911,968 A1375T probably benign Het
Chrdl2 A T 7: 100,022,056 Q127L probably benign Het
Cyp2c29 T C 19: 39,290,897 probably benign Het
Ddi1 C A 9: 6,266,226 V48F probably benign Het
Ddrgk1 C T 2: 130,655,246 probably benign Het
Fastkd1 C T 2: 69,694,588 V626I possibly damaging Het
Fgd5 A G 6: 92,024,562 T755A probably benign Het
Fpgt G T 3: 155,088,018 T124K probably damaging Het
Gnl2 G A 4: 125,047,612 probably null Het
Got1 A T 19: 43,515,845 S46T probably benign Het
Hbb-bt G T 7: 103,813,863 H3N probably benign Het
Ikbke C T 1: 131,272,101 probably benign Het
Il2rb A G 15: 78,481,697 S467P probably benign Het
Kcnma1 A G 14: 23,530,299 probably benign Het
Ltbp2 T C 12: 84,830,199 N391D probably damaging Het
Npr3 A T 15: 11,858,718 I360N probably damaging Het
Nradd G A 9: 110,622,169 P44S possibly damaging Het
Olfr1023 G T 2: 85,887,367 C189F probably damaging Het
Olfr871 G A 9: 20,212,459 V37I possibly damaging Het
Pcdh17 A G 14: 84,533,097 E1005G possibly damaging Het
Pcdhb11 A G 18: 37,422,291 T225A possibly damaging Het
Pja2 T C 17: 64,297,826 D454G probably benign Het
Pon3 T C 6: 5,221,670 Y320C probably damaging Het
Prl2a1 A G 13: 27,806,278 D70G probably damaging Het
Proc T A 18: 32,127,419 T218S probably benign Het
Proz G T 8: 13,066,913 G155V probably damaging Het
Rab11fip3 T C 17: 26,068,003 E392G possibly damaging Het
Rab3gap2 C T 1: 185,267,023 R976* probably null Het
Shisa2 G A 14: 59,629,986 C229Y probably damaging Het
Slc2a5 T C 4: 150,142,218 V379A probably damaging Het
Slc31a2 A T 4: 62,295,960 K47N probably damaging Het
Sult2a6 G A 7: 14,253,486 T88I probably benign Het
Tbc1d14 T C 5: 36,505,037 Y302C probably damaging Het
Thumpd3 C A 6: 113,059,966 N275K possibly damaging Het
Tnks2 T C 19: 36,872,590 probably null Het
Tube1 G A 10: 39,135,045 probably benign Het
Umodl1 T A 17: 30,973,768 Y290N probably damaging Het
Usp34 G A 11: 23,452,661 E726K probably damaging Het
Vmn2r84 T A 10: 130,394,066 D59V probably benign Het
Vps11 T A 9: 44,356,219 probably benign Het
Wdr19 T C 5: 65,228,569 Y631H probably benign Het
Wdr62 G A 7: 30,258,101 H88Y probably damaging Het
Wdr93 A T 7: 79,752,505 N184I probably damaging Het
Wnk4 T A 11: 101,265,414 F473Y probably damaging Het
Zbtb16 A G 9: 48,657,183 W661R probably damaging Het
Other mutations in Arhgap35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Arhgap35 APN 7 16564415 missense probably benign 0.03
IGL00684:Arhgap35 APN 7 16561700 missense possibly damaging 0.93
IGL01385:Arhgap35 APN 7 16564474 missense probably damaging 0.96
IGL01411:Arhgap35 APN 7 16564267 missense probably benign
IGL01922:Arhgap35 APN 7 16564255 missense possibly damaging 0.73
IGL02074:Arhgap35 APN 7 16563055 missense probably benign 0.19
IGL02305:Arhgap35 APN 7 16563665 missense probably benign 0.15
IGL02342:Arhgap35 APN 7 16562380 missense probably benign 0.12
IGL02973:Arhgap35 APN 7 16562878 missense possibly damaging 0.50
IGL02989:Arhgap35 APN 7 16497655 makesense probably null
PIT4382001:Arhgap35 UTSW 7 16563869 missense possibly damaging 0.95
PIT4431001:Arhgap35 UTSW 7 16561611 missense possibly damaging 0.87
R0047:Arhgap35 UTSW 7 16561992 missense probably benign 0.17
R1690:Arhgap35 UTSW 7 16563281 missense probably damaging 1.00
R1820:Arhgap35 UTSW 7 16561949 missense possibly damaging 0.92
R2036:Arhgap35 UTSW 7 16563133 missense probably damaging 1.00
R2205:Arhgap35 UTSW 7 16498025 splice site probably null
R2292:Arhgap35 UTSW 7 16563551 missense probably damaging 1.00
R3079:Arhgap35 UTSW 7 16562576 missense probably damaging 1.00
R3745:Arhgap35 UTSW 7 16563722 missense probably damaging 1.00
R3762:Arhgap35 UTSW 7 16565075 missense probably damaging 0.98
R4661:Arhgap35 UTSW 7 16564738 missense probably damaging 1.00
R4709:Arhgap35 UTSW 7 16563586 missense probably damaging 0.97
R4749:Arhgap35 UTSW 7 16498626 missense possibly damaging 0.95
R5081:Arhgap35 UTSW 7 16565134 missense possibly damaging 0.71
R5131:Arhgap35 UTSW 7 16511187 splice site probably null
R5175:Arhgap35 UTSW 7 16562599 missense probably damaging 1.00
R5440:Arhgap35 UTSW 7 16562924 missense probably damaging 1.00
R5517:Arhgap35 UTSW 7 16563489 missense probably damaging 1.00
R5987:Arhgap35 UTSW 7 16563467 missense possibly damaging 0.84
R6087:Arhgap35 UTSW 7 16563643 missense probably damaging 1.00
R6139:Arhgap35 UTSW 7 16563467 missense possibly damaging 0.84
R6396:Arhgap35 UTSW 7 16562299 missense probably damaging 0.99
R6878:Arhgap35 UTSW 7 16565113 missense probably benign 0.00
R7063:Arhgap35 UTSW 7 16565113 missense probably benign 0.00
R7150:Arhgap35 UTSW 7 16562566 missense probably damaging 0.96
R7269:Arhgap35 UTSW 7 16561727 missense probably benign
R7276:Arhgap35 UTSW 7 16564568 missense probably damaging 1.00
R7517:Arhgap35 UTSW 7 16562207 missense probably benign 0.31
R7593:Arhgap35 UTSW 7 16564861 missense probably damaging 1.00
R7775:Arhgap35 UTSW 7 16562648 missense probably benign 0.01
R7792:Arhgap35 UTSW 7 16561528 missense possibly damaging 0.88
R8101:Arhgap35 UTSW 7 16562319 missense probably benign 0.00
Posted On2014-05-07