Incidental Mutation 'IGL02989:Arhgap35'
List |< first << previous [record 61 of 958] next >> last >|
ID406838
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 #IGL02989
Quality Score
Status
Chromosome7
Chromosomal Location16493719-16614993 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to T at 16497655 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Arginine at position 1500 (*1500R)
Ref Sequence ENSEMBL: ENSMUSP00000127379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075845] [ENSMUST00000171937]
Predicted Effect probably null
Transcript: ENSMUST00000075845
AA Change: *1500R
SMART Domains Protein: ENSMUSP00000075242
Gene: ENSMUSG00000058230
AA Change: *1500R

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 null
Transcript: ENSMUST00000171937
AA Change: *1500R
SMART Domains Protein: ENSMUSP00000127379
Gene: ENSMUSG00000058230
AA Change: *1500R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189720
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 T A 19: 20,640,058 probably benign Het
Arhgap15 A G 2: 43,780,736 D44G probably damaging Het
Arid1b A G 17: 5,335,047 Y1413C probably damaging Het
Atf6 A G 1: 170,788,683 probably benign Het
BC030867 A G 11: 102,255,299 I134V probably benign Het
Cant1 T C 11: 118,411,212 Y93C probably damaging Het
Cat A G 2: 103,472,973 F153S probably damaging Het
Ccdc187 G A 2: 26,276,431 R712W possibly damaging Het
Clpb T C 7: 101,779,220 S396P probably damaging Het
Cntnap5a A G 1: 116,412,083 probably benign Het
Dap3 G A 3: 88,930,571 probably benign Het
Dnah6 T A 6: 73,069,420 D3195V probably damaging Het
Eprs T G 1: 185,418,366 F1355C probably benign Het
Faim2 A G 15: 99,520,362 probably benign Het
Fam208b A T 13: 3,584,820 H662Q probably benign Het
Fancg A G 4: 43,007,121 Het
Fbxo42 T A 4: 141,199,534 I375N probably damaging Het
Gabrr3 A T 16: 59,448,008 D328V probably damaging Het
Gm5849 T A 3: 90,777,800 D26V probably damaging Het
Gm6563 T C 19: 23,675,870 L8P possibly damaging Het
Gpld1 A G 13: 24,990,036 N815D possibly damaging Het
Idh2 T A 7: 80,099,108 I142F probably damaging Het
Kcnh7 A C 2: 62,721,925 N907K probably benign Het
Mcm3ap A G 10: 76,471,060 T336A possibly damaging Het
Olfr1211 A T 2: 88,929,704 S204T possibly damaging Het
Olfr1469 C A 19: 13,411,486 Q306K probably benign Het
Olfr556 T C 7: 102,670,444 S175P possibly damaging Het
Pilrb1 C A 5: 137,857,230 R133L possibly damaging Het
Pitpnm3 C A 11: 72,120,186 Het
Prkdc C T 16: 15,800,016 T3237I possibly damaging Het
Pspc1 A G 14: 56,771,696 probably benign Het
Rasgrp4 G A 7: 29,148,406 E414K probably damaging Het
Rgs12 T A 5: 34,965,119 L82Q probably damaging Het
Sh3gl3 T C 7: 82,273,879 V117A probably benign Het
Shisa5 G A 9: 109,055,994 A112T probably damaging Het
Tedc1 A G 12: 113,163,321 E401G probably benign Het
Tsc22d1 T C 14: 76,418,901 M940T probably benign Het
Vmn1r129 A T 7: 21,360,738 V185E probably damaging Het
Zfp982 C A 4: 147,512,595 D136E possibly 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
IGL01977:Arhgap35 APN 7 16563203 missense probably damaging 1.00
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
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
Posted On2016-08-02