Incidental Mutation 'IGL01122:Arhgap6'
ID53345
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 #IGL01122
Quality Score
Status
ChromosomeX
Chromosomal Location168795099-169304435 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 169246670 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 142 (K142N)
Ref Sequence ENSEMBL: ENSMUSP00000107759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033721] [ENSMUST00000087016] [ENSMUST00000112127] [ENSMUST00000112129] [ENSMUST00000112131] [ENSMUST00000139146] [ENSMUST00000154638]
Predicted Effect probably benign
Transcript: ENSMUST00000033721
AA Change: K324N

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000033721
Gene: ENSMUSG00000031355
AA Change: K324N

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: ENSMUST00000087016
AA Change: K142N

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000084239
Gene: ENSMUSG00000031355
AA Change: K142N

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 possibly damaging
Transcript: ENSMUST00000112127
AA Change: K132N

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107755
Gene: ENSMUSG00000031355
AA Change: K132N

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
AA Change: K142N

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107757
Gene: ENSMUSG00000031355
AA Change: K142N

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 possibly damaging
Transcript: ENSMUST00000112131
AA Change: K142N

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107759
Gene: ENSMUSG00000031355
AA Change: K142N

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
AA Change: K142N

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134512
Gene: ENSMUSG00000031355
AA Change: K142N

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 probably benign
Transcript: ENSMUST00000154638
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a1 T A 8: 69,798,905 L540Q probably damaging Het
C530008M17Rik T C 5: 76,870,675 *1289Q probably null Het
Cacna1a T C 8: 84,614,793 probably null Het
Cops6 A G 5: 138,162,373 K129E probably benign Het
Cyp11a1 T C 9: 58,016,306 I98T probably damaging Het
Cyp2c65 A G 19: 39,072,177 probably null Het
Dapl1 A T 2: 59,494,495 K30I probably damaging Het
Dlg2 A G 7: 92,442,608 M894V possibly damaging Het
Eme2 C T 17: 24,893,346 A202T possibly damaging Het
Fbxw22 A T 9: 109,386,671 S170T probably damaging Het
Gm13078 A G 4: 143,728,401 D423G probably benign Het
Havcr2 A G 11: 46,456,427 Y77C probably damaging Het
Ivd T A 2: 118,876,880 probably benign Het
Map3k9 T C 12: 81,732,126 D471G possibly damaging Het
Med12 T C X: 101,281,543 probably benign Het
Megf6 C T 4: 154,253,807 R445W probably damaging Het
Mptx1 A G 1: 174,332,398 Y90C probably damaging Het
Nek1 G A 8: 61,120,966 V1083I possibly damaging Het
Nepn T A 10: 52,391,815 I59N probably damaging Het
Olfr1245 A G 2: 89,575,423 I101T possibly damaging Het
Pbdc1 T C X: 105,082,691 probably benign Het
Phlpp1 G T 1: 106,173,436 R478L possibly damaging Het
Ppp2r3a A G 9: 101,211,645 L493P probably benign Het
Ppp2r3c C T 12: 55,297,802 G127D probably benign Het
Psap T C 10: 60,299,474 V303A probably benign Het
Rdh13 T C 7: 4,442,695 K60R probably benign Het
Scaf4 A G 16: 90,248,630 S528P unknown Het
Sfmbt1 A G 14: 30,810,311 I543V probably damaging Het
Speg T C 1: 75,410,035 L1271P probably damaging Het
Stard9 C A 2: 120,698,479 T1739K possibly damaging Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Tmprss11b G T 5: 86,663,517 T186K probably benign Het
U2surp G T 9: 95,490,234 Q291K probably benign Het
Ulk4 A G 9: 121,168,292 I738T possibly damaging Het
Urb1 A T 16: 90,804,458 S142T possibly damaging Het
Vmn2r112 T A 17: 22,603,007 I222N probably benign Het
Zmym4 T C 4: 126,864,252 N1503S probably damaging Het
Other mutations in Arhgap6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02609:Arhgap6 APN X 169178066 intron probably benign
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 On2013-06-21