Incidental Mutation 'IGL02609:Arhgap6'
ID300426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap6
Ensembl Gene ENSMUSG00000031355
Gene NameRho GTPase activating protein 6
SynonymsRhoGAPX-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02609
Quality Score
Status
ChromosomeX
Chromosomal Location168795099-169304435 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 169178066 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033721] [ENSMUST00000066112] [ENSMUST00000087016] [ENSMUST00000112118] [ENSMUST00000112119] [ENSMUST00000112120] [ENSMUST00000112127] [ENSMUST00000112129] [ENSMUST00000112131] [ENSMUST00000139146]
Predicted Effect probably benign
Transcript: ENSMUST00000033721
SMART Domains Protein: ENSMUSP00000033721
Gene: ENSMUSG00000031355

DomainStartEndE-ValueType
low complexity region 44 55 N/A INTRINSIC
low complexity region 138 164 N/A INTRINSIC
low complexity region 250 268 N/A INTRINSIC
low complexity region 328 361 N/A INTRINSIC
RhoGAP 410 601 2.25e-65 SMART
low complexity region 712 726 N/A INTRINSIC
low complexity region 765 776 N/A INTRINSIC
low complexity region 880 895 N/A INTRINSIC
low complexity region 937 948 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000066112
SMART Domains Protein: ENSMUSP00000065966
Gene: ENSMUSG00000031354

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Amelogenin 17 196 6.19e-117 SMART
internal_repeat_1 198 210 2e-6 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000087016
SMART Domains Protein: ENSMUSP00000084239
Gene: ENSMUSG00000031355

DomainStartEndE-ValueType
low complexity region 68 86 N/A INTRINSIC
low complexity region 146 179 N/A INTRINSIC
Pfam:RhoGAP 231 287 9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112118
SMART Domains Protein: ENSMUSP00000107746
Gene: ENSMUSG00000031354

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Amelogenin 17 196 4.83e-119 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112119
SMART Domains Protein: ENSMUSP00000107747
Gene: ENSMUSG00000031354

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Amelogenin 17 210 5.18e-119 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112120
SMART Domains Protein: ENSMUSP00000107748
Gene: ENSMUSG00000031354

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Amelogenin 17 172 4.44e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112127
SMART Domains Protein: ENSMUSP00000107755
Gene: ENSMUSG00000031355

DomainStartEndE-ValueType
low complexity region 58 76 N/A INTRINSIC
low complexity region 136 169 N/A INTRINSIC
RhoGAP 218 409 2.25e-65 SMART
low complexity region 520 534 N/A INTRINSIC
low complexity region 573 584 N/A INTRINSIC
low complexity region 688 703 N/A INTRINSIC
low complexity region 745 756 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112129
SMART Domains Protein: ENSMUSP00000107757
Gene: ENSMUSG00000031355

DomainStartEndE-ValueType
low complexity region 68 86 N/A INTRINSIC
low complexity region 146 179 N/A INTRINSIC
RhoGAP 228 374 5.21e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112131
SMART Domains Protein: ENSMUSP00000107759
Gene: ENSMUSG00000031355

DomainStartEndE-ValueType
low complexity region 68 86 N/A INTRINSIC
low complexity region 146 179 N/A INTRINSIC
RhoGAP 228 419 2.25e-65 SMART
low complexity region 530 544 N/A INTRINSIC
low complexity region 583 594 N/A INTRINSIC
low complexity region 698 713 N/A INTRINSIC
low complexity region 755 766 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139146
SMART Domains Protein: ENSMUSP00000134512
Gene: ENSMUSG00000031355

DomainStartEndE-ValueType
low complexity region 68 86 N/A INTRINSIC
low complexity region 146 179 N/A INTRINSIC
RhoGAP 228 419 2.25e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154923
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any observable abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik A T 11: 58,612,616 C29S probably damaging Het
A930011G23Rik A G 5: 99,233,995 probably benign Het
Adcy10 T G 1: 165,538,475 Y520* probably null Het
Agrn A T 4: 156,175,223 probably benign Het
AI661453 A T 17: 47,468,372 probably benign Het
Asxl2 T C 12: 3,500,018 S587P probably damaging Het
B3gntl1 A G 11: 121,644,601 probably benign Het
Bahcc1 T C 11: 120,289,398 F2527L possibly damaging Het
Baz2b T A 2: 59,917,369 M1317L possibly damaging Het
Bcas3 A T 11: 85,457,894 K204I probably damaging Het
C1qtnf1 T C 11: 118,448,004 F167L probably damaging Het
Cfap58 C T 19: 47,975,502 T523M possibly damaging Het
Ddb1 T A 19: 10,622,466 C680S possibly damaging Het
Eef1d T C 15: 75,896,313 Q200R probably null Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm28557 T A 13: 67,071,019 K214* probably null Het
Gm438 T A 4: 144,779,737 D128V probably damaging Het
Gm8229 A C 14: 44,366,625 E90D probably benign Het
Hhla1 T C 15: 65,930,614 probably benign Het
Hivep1 C T 13: 42,155,654 H457Y probably damaging Het
Htr2c T C X: 147,193,760 probably benign Het
Ifi44 A T 3: 151,732,497 S384R probably damaging Het
Impad1 T A 4: 4,767,763 R338* probably null Het
Kirrel2 T C 7: 30,448,340 T628A probably benign Het
Kmt2d T C 15: 98,851,793 probably benign Het
Larp4b T A 13: 9,170,680 I655N probably damaging Het
Lrrd1 G A 5: 3,858,803 V692I probably benign Het
Mum1 A T 10: 80,230,083 E57V probably damaging Het
Nes T C 3: 87,977,221 I929T probably benign Het
Ogfr T C 2: 180,592,515 probably benign Het
Rfx2 G T 17: 56,805,404 P43Q probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sh3tc1 T C 5: 35,707,172 K495R probably damaging Het
Slit1 A T 19: 41,602,304 C1310S probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stk35 T C 2: 129,801,801 V235A probably damaging Het
Syde2 T G 3: 145,998,520 V142G probably benign Het
Tgfb3 A G 12: 86,077,839 F32L probably benign Het
Tmem35a T C X: 134,304,697 F121L probably damaging Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Vmn1r26 A G 6: 58,008,875 S110P probably damaging Het
Vpreb2 T C 16: 17,980,694 probably benign Het
Xrn2 A T 2: 147,050,025 T721S probably benign Het
Other mutations in Arhgap6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Arhgap6 APN X 169246670 missense possibly damaging 0.52
R1499:Arhgap6 UTSW X 168796503 missense possibly damaging 0.92
R1553:Arhgap6 UTSW X 169265484 missense probably damaging 1.00
R2146:Arhgap6 UTSW X 168796500 missense probably benign 0.00
R2148:Arhgap6 UTSW X 168796500 missense probably benign 0.00
Posted On2015-04-16