Incidental Mutation 'IGL02652:Arhgap28'
ID 302183
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap28
Ensembl Gene ENSMUSG00000024043
Gene Name Rho GTPase activating protein 28
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02652
Quality Score
Status
Chromosome 17
Chromosomal Location 68149708-68311115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68191795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 139 (D139E)
Ref Sequence ENSEMBL: ENSMUSP00000130960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024840] [ENSMUST00000163865] [ENSMUST00000164647]
AlphaFold Q8BN58
Predicted Effect probably benign
Transcript: ENSMUST00000024840
AA Change: D189E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: D189E

DomainStartEndE-ValueType
low complexity region 63 76 N/A INTRINSIC
RhoGAP 400 578 1.41e-34 SMART
Blast:RhoGAP 583 612 2e-7 BLAST
Blast:RhoGAP 640 681 9e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000163865
AA Change: D139E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: D139E

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
RhoGAP 350 527 7.1e-31 SMART
Blast:RhoGAP 532 561 1e-7 BLAST
Blast:RhoGAP 589 630 8e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000164647
AA Change: D139E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: D139E

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
RhoGAP 350 528 1.41e-34 SMART
Blast:RhoGAP 533 562 1e-7 BLAST
Blast:RhoGAP 590 631 8e-6 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000170581
AA Change: D23E
SMART Domains Protein: ENSMUSP00000131903
Gene: ENSMUSG00000024043
AA Change: D23E

DomainStartEndE-ValueType
Blast:RhoGAP 151 213 1e-33 BLAST
SCOP:d1tx4a_ 182 235 1e-10 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal bone length and ossification. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asph C T 4: 9,529,984 (GRCm39) V347I probably benign Het
Ccdc138 A T 10: 58,348,901 (GRCm39) D149V probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Cttn G T 7: 143,995,468 (GRCm39) Q382K probably benign Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dmtf1 T A 5: 9,171,853 (GRCm39) T458S probably benign Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Grik4 A G 9: 42,586,573 (GRCm39) V94A possibly damaging Het
Heatr6 T C 11: 83,660,558 (GRCm39) V566A probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Mertk A G 2: 128,643,190 (GRCm39) E863G probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Nyap2 T C 1: 81,219,435 (GRCm39) Y486H probably damaging Het
Oas1e T C 5: 120,933,470 (GRCm39) R32G probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Or4k48 A G 2: 111,475,839 (GRCm39) F168L probably benign Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Ptpn12 T C 5: 21,207,435 (GRCm39) K308E probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Snrpg T C 6: 86,353,510 (GRCm39) I30T probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A probably benign Het
Other mutations in Arhgap28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Arhgap28 APN 17 68,152,796 (GRCm39) missense probably damaging 1.00
IGL01388:Arhgap28 APN 17 68,160,034 (GRCm39) unclassified probably benign
IGL01560:Arhgap28 APN 17 68,203,066 (GRCm39) missense probably damaging 1.00
IGL01578:Arhgap28 APN 17 68,165,195 (GRCm39) missense probably benign 0.00
IGL01650:Arhgap28 APN 17 68,180,127 (GRCm39) missense probably damaging 0.97
IGL02383:Arhgap28 APN 17 68,203,084 (GRCm39) missense probably benign 0.00
IGL02403:Arhgap28 APN 17 68,180,154 (GRCm39) missense possibly damaging 0.87
IGL03102:Arhgap28 APN 17 68,203,231 (GRCm39) missense probably damaging 1.00
IGL03209:Arhgap28 APN 17 68,175,951 (GRCm39) missense probably damaging 1.00
IGL03306:Arhgap28 APN 17 68,159,930 (GRCm39) missense probably damaging 1.00
K3955:Arhgap28 UTSW 17 68,311,001 (GRCm39) missense probably damaging 0.98
PIT4445001:Arhgap28 UTSW 17 68,203,230 (GRCm39) missense possibly damaging 0.94
R0135:Arhgap28 UTSW 17 68,171,583 (GRCm39) missense probably damaging 1.00
R0309:Arhgap28 UTSW 17 68,208,424 (GRCm39) missense probably benign 0.13
R0385:Arhgap28 UTSW 17 68,171,601 (GRCm39) missense probably damaging 1.00
R0412:Arhgap28 UTSW 17 68,203,253 (GRCm39) missense probably damaging 1.00
R0463:Arhgap28 UTSW 17 68,203,220 (GRCm39) missense probably damaging 1.00
R0626:Arhgap28 UTSW 17 68,203,108 (GRCm39) splice site probably null
R0691:Arhgap28 UTSW 17 68,203,159 (GRCm39) splice site probably null
R0811:Arhgap28 UTSW 17 68,208,294 (GRCm39) small deletion probably benign
R1150:Arhgap28 UTSW 17 68,164,459 (GRCm39) missense probably damaging 1.00
R1151:Arhgap28 UTSW 17 68,164,459 (GRCm39) missense probably damaging 1.00
R1152:Arhgap28 UTSW 17 68,164,459 (GRCm39) missense probably damaging 1.00
R1426:Arhgap28 UTSW 17 68,164,459 (GRCm39) missense probably damaging 1.00
R1427:Arhgap28 UTSW 17 68,164,459 (GRCm39) missense probably damaging 1.00
R1632:Arhgap28 UTSW 17 68,156,069 (GRCm39) missense probably damaging 0.99
R1747:Arhgap28 UTSW 17 68,208,304 (GRCm39) missense probably benign 0.02
R1951:Arhgap28 UTSW 17 68,208,336 (GRCm39) missense probably benign 0.00
R2031:Arhgap28 UTSW 17 68,203,111 (GRCm39) missense probably damaging 1.00
R2126:Arhgap28 UTSW 17 68,176,010 (GRCm39) missense possibly damaging 0.90
R2181:Arhgap28 UTSW 17 68,203,112 (GRCm39) missense probably damaging 1.00
R3700:Arhgap28 UTSW 17 68,208,361 (GRCm39) missense probably damaging 1.00
R3800:Arhgap28 UTSW 17 68,180,031 (GRCm39) missense probably damaging 1.00
R3811:Arhgap28 UTSW 17 68,203,088 (GRCm39) missense probably benign
R4213:Arhgap28 UTSW 17 68,178,988 (GRCm39) missense probably benign 0.04
R4347:Arhgap28 UTSW 17 68,180,137 (GRCm39) missense probably benign
R4954:Arhgap28 UTSW 17 68,176,008 (GRCm39) nonsense probably null
R5592:Arhgap28 UTSW 17 68,165,267 (GRCm39) missense probably damaging 0.99
R5610:Arhgap28 UTSW 17 68,203,235 (GRCm39) nonsense probably null
R5758:Arhgap28 UTSW 17 68,180,154 (GRCm39) missense probably benign 0.04
R5774:Arhgap28 UTSW 17 68,188,487 (GRCm39) missense possibly damaging 0.94
R6413:Arhgap28 UTSW 17 68,182,583 (GRCm39) missense probably benign 0.00
R6661:Arhgap28 UTSW 17 68,152,746 (GRCm39) missense probably damaging 1.00
R7255:Arhgap28 UTSW 17 68,159,999 (GRCm39) missense probably damaging 0.99
R7324:Arhgap28 UTSW 17 68,202,879 (GRCm39) splice site probably null
R7338:Arhgap28 UTSW 17 68,203,106 (GRCm39) missense probably damaging 1.00
R7549:Arhgap28 UTSW 17 68,178,961 (GRCm39) missense probably damaging 1.00
R7860:Arhgap28 UTSW 17 68,208,277 (GRCm39) nonsense probably null
R8516:Arhgap28 UTSW 17 68,180,068 (GRCm39) missense probably benign 0.08
R9210:Arhgap28 UTSW 17 68,162,430 (GRCm39) missense probably benign 0.00
R9212:Arhgap28 UTSW 17 68,162,430 (GRCm39) missense probably benign 0.00
R9779:Arhgap28 UTSW 17 68,152,764 (GRCm39) missense probably benign 0.00
Z1088:Arhgap28 UTSW 17 68,168,272 (GRCm39) missense possibly damaging 0.62
Posted On 2015-04-16