Incidental Mutation 'IGL02540:Arhgap1'
ID297666
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: 0.344) question?
Stock #IGL02540
Quality Score
Status
Chromosome2
Chromosomal Location91649860-91672326 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 91670239 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 371 (T371I)
Ref Sequence ENSEMBL: ENSMUSP00000106963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028678] [ENSMUST00000076803] [ENSMUST00000090614] [ENSMUST00000111329] [ENSMUST00000111330] [ENSMUST00000111331]
Predicted Effect probably benign
Transcript: ENSMUST00000028678
SMART Domains Protein: ENSMUSP00000028678
Gene: ENSMUSG00000027244

DomainStartEndE-ValueType
Pfam:ATG13 77 195 1.5e-10 PFAM
low complexity region 252 269 N/A INTRINSIC
low complexity region 423 442 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076803
SMART Domains Protein: ENSMUSP00000076081
Gene: ENSMUSG00000027244

DomainStartEndE-ValueType
Pfam:ATG13 17 195 1.1e-35 PFAM
low complexity region 386 405 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000090614
AA Change: T331I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088105
Gene: ENSMUSG00000027247
AA Change: T331I

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 damaging
Transcript: ENSMUST00000111329
AA Change: T331I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106961
Gene: ENSMUSG00000027247
AA Change: T331I

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 damaging
Transcript: ENSMUST00000111330
AA Change: T331I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106962
Gene: ENSMUSG00000027247
AA Change: T331I

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 damaging
Transcript: ENSMUST00000111331
AA Change: T371I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106963
Gene: ENSMUSG00000027247
AA Change: T371I

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 noncoding transcript
Transcript: ENSMUST00000123702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149426
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor2 C A 6: 119,359,495 R169L probably benign Het
AI314180 A T 4: 58,805,534 probably benign Het
Brpf3 C T 17: 28,828,354 P1031S probably damaging Het
Cenpu A G 8: 46,578,319 H245R probably damaging Het
Dhx36 A G 3: 62,506,888 S18P probably benign Het
Dst A G 1: 34,135,204 T217A probably damaging Het
Entpd8 A G 2: 25,084,719 probably null Het
Fez1 A G 9: 36,850,399 R122G probably damaging Het
Heatr5b A T 17: 78,773,572 M1417K probably damaging Het
Higd1c T C 15: 100,365,366 probably benign Het
Icosl G A 10: 78,069,536 probably null Het
Il24 T C 1: 130,887,303 probably benign Het
Kank3 T A 17: 33,819,187 probably benign Het
Lrriq1 A G 10: 103,215,019 L624P probably benign Het
Mov10l1 C A 15: 89,018,211 T768K probably benign Het
Olfr259 A T 2: 87,108,042 L115Q probably damaging Het
Olfr304 T A 7: 86,386,178 T161S possibly damaging Het
Olfr995 A G 2: 85,438,915 M81T probably benign Het
Pkn2 A T 3: 142,809,704 F649I probably benign Het
Pld1 A G 3: 28,029,160 probably benign Het
Prrc2c G A 1: 162,723,137 S86L probably damaging Het
Rai1 G A 11: 60,186,924 A605T probably benign Het
Reln T A 5: 22,034,752 Q839L probably damaging Het
Rrp9 T C 9: 106,483,547 probably benign Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tmtc2 A T 10: 105,413,339 C178S probably benign Het
Vmn1r172 T A 7: 23,659,925 F78L probably benign Het
Zfpm1 A G 8: 122,332,120 S160G possibly damaging Het
Other mutations in Arhgap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:Arhgap1 APN 2 91650219 unclassified probably null
IGL02283:Arhgap1 APN 2 91670776 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
Posted On2015-04-16