Incidental Mutation 'IGL02707:Arhgap9'
ID 304399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap9
Ensembl Gene ENSMUSG00000040345
Gene Name Rho GTPase activating protein 9
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # IGL02707
Quality Score
Status
Chromosome 10
Chromosomal Location 127157833-127165812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 127165476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 628 (H628Q)
Ref Sequence ENSEMBL: ENSMUSP00000151690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026474] [ENSMUST00000069548] [ENSMUST00000219026] [ENSMUST00000219511]
AlphaFold Q1HDU4
Predicted Effect probably benign
Transcript: ENSMUST00000026474
SMART Domains Protein: ENSMUSP00000026474
Gene: ENSMUSG00000025407

DomainStartEndE-ValueType
low complexity region 222 237 N/A INTRINSIC
ZnF_C2H2 238 263 1.33e-1 SMART
ZnF_C2H2 271 298 5.72e-1 SMART
ZnF_C2H2 304 328 2.57e-3 SMART
ZnF_C2H2 334 359 1.92e-2 SMART
ZnF_C2H2 365 390 2.61e-4 SMART
low complexity region 419 431 N/A INTRINSIC
low complexity region 540 562 N/A INTRINSIC
low complexity region 639 655 N/A INTRINSIC
low complexity region 748 759 N/A INTRINSIC
low complexity region 850 873 N/A INTRINSIC
low complexity region 941 962 N/A INTRINSIC
low complexity region 985 1002 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000069548
AA Change: H453Q

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066455
Gene: ENSMUSG00000040345
AA Change: H453Q

DomainStartEndE-ValueType
PH 60 175 8.19e-10 SMART
RhoGAP 276 469 1.94e-55 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218656
Predicted Effect possibly damaging
Transcript: ENSMUST00000219026
AA Change: H453Q

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000219511
AA Change: H628Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219808
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 Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,928 (GRCm39) T149A probably benign Het
4932414N04Rik A C 2: 68,561,474 (GRCm39) Q267P possibly damaging Het
Actr5 T C 2: 158,478,617 (GRCm39) V489A probably benign Het
Adam26b T C 8: 43,972,895 (GRCm39) probably benign Het
Aff4 A G 11: 53,290,567 (GRCm39) N509S probably benign Het
Arhgap22 C T 14: 33,085,229 (GRCm39) probably benign Het
Asap1 A T 15: 64,001,123 (GRCm39) I486N probably damaging Het
Asb15 A T 6: 24,558,787 (GRCm39) probably benign Het
Avil A G 10: 126,842,431 (GRCm39) D70G probably damaging Het
Cct6b T C 11: 82,645,780 (GRCm39) probably benign Het
Cep63 A T 9: 102,464,180 (GRCm39) I717K probably damaging Het
Chd4 G T 6: 125,085,730 (GRCm39) A875S probably damaging Het
Col4a4 A T 1: 82,471,237 (GRCm39) M706K unknown Het
Cr1l T C 1: 194,806,019 (GRCm39) T155A probably benign Het
Ctnna3 A G 10: 63,339,844 (GRCm39) N10S probably benign Het
Cubn A G 2: 13,450,843 (GRCm39) V854A probably damaging Het
Dgkh T C 14: 78,823,091 (GRCm39) T845A possibly damaging Het
F10 G A 8: 13,098,252 (GRCm39) A152T probably damaging Het
Gabrg3 C A 7: 56,632,439 (GRCm39) E170* probably null Het
Heatr5a A G 12: 51,968,149 (GRCm39) V829A probably benign Het
Htt T A 5: 34,987,225 (GRCm39) probably null Het
Icam4 T C 9: 20,941,770 (GRCm39) Y257H possibly damaging Het
Jph1 A G 1: 17,074,675 (GRCm39) S448P probably benign Het
Kansl1l G A 1: 66,812,604 (GRCm39) L125F probably damaging Het
Kifc1 A T 17: 34,100,467 (GRCm39) C46* probably null Het
Lce3b A G 3: 92,841,193 (GRCm39) D96G unknown Het
Mab21l1 A T 3: 55,690,505 (GRCm39) I31F possibly damaging Het
Mctp2 A G 7: 71,909,089 (GRCm39) Y75H possibly damaging Het
Mesp2 A G 7: 79,461,274 (GRCm39) I200V probably benign Het
Msr1 T C 8: 40,085,870 (GRCm39) probably benign Het
Mtfr2 C T 10: 20,224,084 (GRCm39) T6I probably benign Het
Myo5b T C 18: 74,828,438 (GRCm39) probably benign Het
Myoc T A 1: 162,467,029 (GRCm39) I66N probably benign Het
Or10d1b T C 9: 39,613,937 (GRCm39) I43V probably damaging Het
Or4a70 A T 2: 89,324,171 (GRCm39) Y162N probably damaging Het
Or51k1 A C 7: 103,661,609 (GRCm39) L100W probably damaging Het
Or52n20 T C 7: 104,320,136 (GRCm39) C76R probably damaging Het
Or52n2b A G 7: 104,565,859 (GRCm39) C215R probably damaging Het
Or7a39 T C 10: 78,715,759 (GRCm39) L251S probably damaging Het
Per2 T C 1: 91,378,450 (GRCm39) D33G possibly damaging Het
Pknox1 A G 17: 31,821,793 (GRCm39) I295V possibly damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rhot2 A G 17: 26,063,270 (GRCm39) S19P probably damaging Het
Rps6kb1 C A 11: 86,426,236 (GRCm39) probably null Het
Serpinb1b C T 13: 33,275,648 (GRCm39) T194I probably benign Het
Smarcad1 T A 6: 65,029,790 (GRCm39) probably benign Het
Stxbp4 A G 11: 90,428,759 (GRCm39) S449P probably benign Het
Thrb A C 14: 18,026,721 (GRCm38) I275L probably benign Het
Tjp1 T A 7: 64,979,431 (GRCm39) K365* probably null Het
Tjp1 T A 7: 64,979,430 (GRCm39) K365I possibly damaging Het
Tm4sf4 C A 3: 57,333,939 (GRCm39) C75* probably null Het
Tmem131 T C 1: 36,864,560 (GRCm39) T558A probably benign Het
Txndc16 T C 14: 45,399,730 (GRCm39) T408A probably benign Het
Ube2j1 T C 4: 33,038,206 (GRCm39) L38P possibly damaging Het
Urb2 T C 8: 124,757,425 (GRCm39) I1044T probably benign Het
Other mutations in Arhgap9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Arhgap9 APN 10 127,163,762 (GRCm39) splice site probably benign
IGL01069:Arhgap9 APN 10 127,164,821 (GRCm39) missense probably damaging 1.00
IGL02444:Arhgap9 APN 10 127,163,816 (GRCm39) missense probably damaging 1.00
R0242:Arhgap9 UTSW 10 127,165,407 (GRCm39) missense probably benign 0.13
R0242:Arhgap9 UTSW 10 127,165,407 (GRCm39) missense probably benign 0.13
R0841:Arhgap9 UTSW 10 127,165,508 (GRCm39) missense probably damaging 0.98
R1084:Arhgap9 UTSW 10 127,163,797 (GRCm39) missense probably damaging 1.00
R1707:Arhgap9 UTSW 10 127,164,758 (GRCm39) missense probably benign 0.00
R1799:Arhgap9 UTSW 10 127,163,593 (GRCm39) missense probably damaging 1.00
R2423:Arhgap9 UTSW 10 127,162,993 (GRCm39) splice site probably null
R2511:Arhgap9 UTSW 10 127,164,854 (GRCm39) critical splice donor site probably null
R3721:Arhgap9 UTSW 10 127,164,840 (GRCm39) missense possibly damaging 0.84
R3803:Arhgap9 UTSW 10 127,165,386 (GRCm39) missense possibly damaging 0.64
R4261:Arhgap9 UTSW 10 127,164,334 (GRCm39) missense probably damaging 1.00
R4968:Arhgap9 UTSW 10 127,162,875 (GRCm39) missense possibly damaging 0.80
R5423:Arhgap9 UTSW 10 127,165,418 (GRCm39) missense probably damaging 1.00
R5425:Arhgap9 UTSW 10 127,162,287 (GRCm39) missense probably damaging 1.00
R6697:Arhgap9 UTSW 10 127,157,989 (GRCm39) missense probably benign 0.34
R6969:Arhgap9 UTSW 10 127,162,512 (GRCm39) missense probably benign 0.39
R8840:Arhgap9 UTSW 10 127,161,009 (GRCm39) missense possibly damaging 0.94
R8844:Arhgap9 UTSW 10 127,161,015 (GRCm39) missense probably benign 0.03
R9084:Arhgap9 UTSW 10 127,158,114 (GRCm39) missense possibly damaging 0.95
R9325:Arhgap9 UTSW 10 127,161,722 (GRCm39) missense probably damaging 1.00
X0067:Arhgap9 UTSW 10 127,164,301 (GRCm39) missense probably damaging 1.00
Z1176:Arhgap9 UTSW 10 127,163,558 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16