Incidental Mutation 'IGL01876:Arhgap1'
ID178895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap1
Ensembl Gene ENSMUSG00000027247
Gene NameRho GTPase activating protein 1
SynonymsCdc42GAP, p50rhoGAP, B230365D05Rik
Accession Numbers

NCBI RefSeq: NM_001145902.1; NM_146124.4; MGI: 2445003

Is this an essential gene? Possibly non essential (E-score: 0.382) question?
Stock #IGL01876
Quality Score
Status
Chromosome2
Chromosomal Location91649860-91672326 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 91650219 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000088105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090614] [ENSMUST00000099714] [ENSMUST00000111329] [ENSMUST00000111330] [ENSMUST00000111331] [ENSMUST00000111333] [ENSMUST00000145582]
Predicted Effect probably null
Transcript: ENSMUST00000090614
SMART Domains Protein: ENSMUSP00000088105
Gene: ENSMUSG00000027247

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
SEC14 64 215 5.08e-25 SMART
low complexity region 224 238 N/A INTRINSIC
RhoGAP 257 428 1.06e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099714
SMART Domains Protein: ENSMUSP00000097301
Gene: ENSMUSG00000075040

DomainStartEndE-ValueType
ZnF_C2H2 344 366 7.05e-1 SMART
ZnF_C2H2 372 394 1.67e-2 SMART
ZnF_C2H2 400 422 2.24e-3 SMART
ZnF_C2H2 428 450 8.6e-5 SMART
ZnF_C2H2 459 481 5.9e-3 SMART
ZnF_C2H2 487 509 4.87e-4 SMART
ZnF_C2H2 515 537 2.95e-3 SMART
ZnF_C2H2 542 564 2.2e-2 SMART
ZnF_C2H2 570 592 1.69e-3 SMART
ZnF_C2H2 598 620 3.89e-3 SMART
low complexity region 625 638 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111329
SMART Domains Protein: ENSMUSP00000106961
Gene: ENSMUSG00000027247

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
SEC14 64 215 5.08e-25 SMART
low complexity region 224 238 N/A INTRINSIC
RhoGAP 257 428 1.06e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111330
SMART Domains Protein: ENSMUSP00000106962
Gene: ENSMUSG00000027247

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
SEC14 64 215 5.08e-25 SMART
low complexity region 224 238 N/A INTRINSIC
RhoGAP 257 428 1.06e-61 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111331
AA Change: T29A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106963
Gene: ENSMUSG00000027247
AA Change: T29A

DomainStartEndE-ValueType
low complexity region 44 58 N/A INTRINSIC
low complexity region 82 92 N/A INTRINSIC
SEC14 104 255 5.08e-25 SMART
low complexity region 264 278 N/A INTRINSIC
RhoGAP 297 468 1.06e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111333
SMART Domains Protein: ENSMUSP00000106965
Gene: ENSMUSG00000075040

DomainStartEndE-ValueType
ZnF_C2H2 244 266 7.05e-1 SMART
ZnF_C2H2 272 294 1.67e-2 SMART
ZnF_C2H2 300 322 2.24e-3 SMART
ZnF_C2H2 328 350 8.6e-5 SMART
ZnF_C2H2 359 381 5.9e-3 SMART
ZnF_C2H2 387 409 4.87e-4 SMART
ZnF_C2H2 415 437 2.95e-3 SMART
ZnF_C2H2 442 464 2.2e-2 SMART
ZnF_C2H2 470 492 1.69e-3 SMART
ZnF_C2H2 498 520 3.89e-3 SMART
low complexity region 525 538 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141012
Predicted Effect probably benign
Transcript: ENSMUST00000145582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152769
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155045
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3606252
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null mice display incomplete penetrance of postnatal lethality, increased apoptosis, and growth retardation. [provided by MGI curators]
Allele List at MGI

All alleles(28) : Targeted(1) Gene trapped(27)

Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T C 13: 63,190,522 S570P probably damaging Het
Ap3b2 T A 7: 81,473,854 probably null Het
Api5 A G 2: 94,418,954 probably benign Het
BC003331 G T 1: 150,382,338 T182N probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
C330027C09Rik T C 16: 49,001,678 V223A probably damaging Het
Cldn6 G T 17: 23,681,184 V41F probably damaging Het
Dctn1 G T 6: 83,197,921 V1032L probably damaging Het
Eef2 T A 10: 81,180,270 F488L probably benign Het
Fars2 A G 13: 36,537,311 T410A probably benign Het
Hnrnpc T C 14: 52,081,873 N91S probably null Het
Magel2 T C 7: 62,378,827 V493A possibly damaging Het
Olfr1222 A T 2: 89,125,737 probably null Het
Olfr199 A G 16: 59,216,019 V198A possibly damaging Het
Pcnx2 G T 8: 125,866,031 S731R probably benign Het
Plekhm1 A G 11: 103,376,751 L798P probably damaging Het
Prkd1 T C 12: 50,366,348 E680G probably damaging Het
Rabggta T C 14: 55,718,671 T140A probably damaging Het
Slc2a1 G A 4: 119,133,378 D236N probably benign Het
Sptlc1 C A 13: 53,374,012 V39F probably benign Het
Svs1 A T 6: 48,990,036 R639S possibly damaging Het
Vmn1r6 A G 6: 57,002,461 K36R probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdpcp T A 11: 21,813,383 D581E possibly damaging Het
Other mutations in Arhgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02283:Arhgap1 APN 2 91670776 missense probably damaging 1.00
IGL02540:Arhgap1 APN 2 91670239 missense probably damaging 1.00
P0012:Arhgap1 UTSW 2 91670263 missense probably benign 0.00
P0041:Arhgap1 UTSW 2 91669393 missense probably benign 0.03
R0049:Arhgap1 UTSW 2 91670169 missense probably damaging 1.00
R0049:Arhgap1 UTSW 2 91670169 missense probably damaging 1.00
R1385:Arhgap1 UTSW 2 91670831 missense probably damaging 1.00
R4386:Arhgap1 UTSW 2 91668237 missense probably damaging 1.00
R5774:Arhgap1 UTSW 2 91654108 missense possibly damaging 0.91
R6985:Arhgap1 UTSW 2 91668198 missense probably damaging 1.00
Z1176:Arhgap1 UTSW 2 91650214 missense possibly damaging 0.85
Posted On2014-05-07