Incidental Mutation 'IGL02609:Arhgap6'
ID 300426
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap6
Ensembl Gene ENSMUSG00000031355
Gene Name Rho GTPase activating protein 6
Synonyms RhoGAPX-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02609
Quality Score
Status
Chromosome X
Chromosomal Location 167578095-168087431 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 167961062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033721] [ENSMUST00000066112] [ENSMUST00000087016] [ENSMUST00000112118] [ENSMUST00000112119] [ENSMUST00000112120] [ENSMUST00000112127] [ENSMUST00000112131] [ENSMUST00000139146] [ENSMUST00000112129]
AlphaFold O54834
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 noncoding transcript
Transcript: ENSMUST00000143048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154923
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 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
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
A930011G23Rik A G 5: 99,381,854 (GRCm39) probably benign Het
Aadacl4fm5 T A 4: 144,506,307 (GRCm39) D128V probably damaging Het
Adcy10 T G 1: 165,366,044 (GRCm39) Y520* probably null Het
Agrn A T 4: 156,259,680 (GRCm39) probably benign Het
AI661453 A T 17: 47,779,297 (GRCm39) probably benign Het
Asxl2 T C 12: 3,550,018 (GRCm39) S587P probably damaging Het
B3gntl1 A G 11: 121,535,427 (GRCm39) probably benign Het
Bahcc1 T C 11: 120,180,224 (GRCm39) F2527L possibly damaging Het
Baz2b T A 2: 59,747,713 (GRCm39) M1317L possibly damaging Het
Bcas3 A T 11: 85,348,720 (GRCm39) K204I probably damaging Het
Bpnt2 T A 4: 4,767,763 (GRCm39) R338* probably null Het
C1qtnf1 T C 11: 118,338,830 (GRCm39) F167L probably damaging Het
Cfap58 C T 19: 47,963,941 (GRCm39) T523M possibly damaging Het
Ddb1 T A 19: 10,599,830 (GRCm39) C680S possibly damaging Het
Eef1d T C 15: 75,768,162 (GRCm39) Q200R probably null Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm28557 T A 13: 67,219,083 (GRCm39) K214* probably null Het
Gm8229 A C 14: 44,604,082 (GRCm39) E90D probably benign Het
Hhla1 T C 15: 65,802,463 (GRCm39) probably benign Het
Hivep1 C T 13: 42,309,130 (GRCm39) H457Y probably damaging Het
Htr2c T C X: 145,976,756 (GRCm39) probably benign Het
Ifi44 A T 3: 151,438,134 (GRCm39) S384R probably damaging Het
Kirrel2 T C 7: 30,147,765 (GRCm39) T628A probably benign Het
Kmt2d T C 15: 98,749,674 (GRCm39) probably benign Het
Larp4b T A 13: 9,220,716 (GRCm39) I655N probably damaging Het
Lrrd1 G A 5: 3,908,803 (GRCm39) V692I probably benign Het
Lypd8l A T 11: 58,503,442 (GRCm39) C29S probably damaging Het
Nes T C 3: 87,884,528 (GRCm39) I929T probably benign Het
Ogfr T C 2: 180,234,308 (GRCm39) probably benign Het
Pwwp3a A T 10: 80,065,917 (GRCm39) E57V probably damaging Het
Rfx2 G T 17: 57,112,404 (GRCm39) P43Q probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sh3tc1 T C 5: 35,864,516 (GRCm39) K495R probably damaging Het
Slit1 A T 19: 41,590,743 (GRCm39) C1310S probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stk35 T C 2: 129,643,721 (GRCm39) V235A probably damaging Het
Syde2 T G 3: 145,704,275 (GRCm39) V142G probably benign Het
Tgfb3 A G 12: 86,124,613 (GRCm39) F32L probably benign Het
Tmem35a T C X: 133,205,446 (GRCm39) F121L probably damaging Het
Trp53bp2 T A 1: 182,281,289 (GRCm39) D963E probably benign Het
Vmn1r26 A G 6: 57,985,860 (GRCm39) S110P probably damaging Het
Vpreb1b T C 16: 17,798,558 (GRCm39) probably benign Het
Xrn2 A T 2: 146,891,945 (GRCm39) T721S probably benign Het
Other mutations in Arhgap6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01122:Arhgap6 APN X 168,029,666 (GRCm39) missense possibly damaging 0.52
R1499:Arhgap6 UTSW X 167,579,499 (GRCm39) missense possibly damaging 0.92
R1553:Arhgap6 UTSW X 168,048,480 (GRCm39) missense probably damaging 1.00
R2146:Arhgap6 UTSW X 167,579,496 (GRCm39) missense probably benign 0.00
R2148:Arhgap6 UTSW X 167,579,496 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16