Incidental Mutation 'IGL01069:Arhgap9'
ID 52046
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 # IGL01069
Quality Score
Status
Chromosome 10
Chromosomal Location 127157833-127165812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127164821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 582 (T582A)
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 probably damaging
Transcript: ENSMUST00000069548
AA Change: T407A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066455
Gene: ENSMUSG00000040345
AA Change: T407A

DomainStartEndE-ValueType
PH 60 175 8.19e-10 SMART
RhoGAP 276 469 1.94e-55 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218656
Predicted Effect probably damaging
Transcript: ENSMUST00000219026
AA Change: T407A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000219511
AA Change: T582A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219640
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Cux2 G A 5: 122,005,414 (GRCm39) T924M possibly damaging Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Arhgap9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Arhgap9 APN 10 127,163,762 (GRCm39) splice site probably benign
IGL02444:Arhgap9 APN 10 127,163,816 (GRCm39) missense probably damaging 1.00
IGL02707:Arhgap9 APN 10 127,165,476 (GRCm39) missense probably damaging 0.98
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 2013-06-21