Incidental Mutation 'IGL00435:Arhgap28'
ID5750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap28
Ensembl Gene ENSMUSG00000024043
Gene NameRho GTPase activating protein 28
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.187) question?
Stock #IGL00435
Quality Score
Status
Chromosome17
Chromosomal Location67842713-68004120 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 67845801 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 657 (D657E)
Ref Sequence ENSEMBL: ENSMUSP00000130960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024840] [ENSMUST00000163865] [ENSMUST00000164647]
Predicted Effect probably damaging
Transcript: ENSMUST00000024840
AA Change: D708E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: D708E

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 damaging
Transcript: ENSMUST00000163865
AA Change: D657E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: D657E

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 damaging
Transcript: ENSMUST00000164647
AA Change: D658E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: D658E

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 noncoding transcript
Transcript: ENSMUST00000166414
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
9530053A07Rik A T 7: 28,164,528 D2575V probably damaging Het
Cd68 T C 11: 69,665,850 T44A probably damaging Het
Cecr2 C T 6: 120,756,717 T555M probably damaging Het
Cep170b A G 12: 112,735,194 Q169R probably damaging Het
Cs T C 10: 128,360,043 F374L probably damaging Het
Dpy19l1 T C 9: 24,481,930 E181G probably damaging Het
Efcab12 T C 6: 115,823,664 T133A probably benign Het
Esr2 G A 12: 76,133,879 R423W probably damaging Het
Eya4 T C 10: 23,159,097 Y120C probably benign Het
Fam46c A G 3: 100,473,356 V28A probably damaging Het
Fbxw8 A G 5: 118,068,137 M582T probably benign Het
Ghsr A G 3: 27,372,383 E196G possibly damaging Het
Gm10024 G A 10: 77,711,461 probably benign Het
Gm609 A T 16: 45,444,120 L25Q probably damaging Het
Gpr65 A G 12: 98,275,556 E156G probably damaging Het
Gtf3c3 T C 1: 54,427,535 Y249C possibly damaging Het
H2-T23 G A 17: 36,031,781 A155V probably damaging Het
Hadha A G 5: 30,122,173 S556P probably benign Het
Hdac7 T A 15: 97,809,495 K187N probably damaging Het
Inpp5j T C 11: 3,502,255 I332V probably benign Het
Kank1 A G 19: 25,430,236 D1198G probably benign Het
Kdr A G 5: 75,968,750 L159P probably damaging Het
Me2 T C 18: 73,770,642 E585G probably benign Het
Nfu1 A T 6: 87,015,595 T64S probably damaging Het
Nsd3 A G 8: 25,676,712 D632G probably benign Het
Pcna T C 2: 132,251,932 D97G probably benign Het
Pgm1 A G 5: 64,108,269 probably benign Het
Phactr1 C A 13: 42,956,646 R2S probably damaging Het
Psmd11 T A 11: 80,470,384 I347N possibly damaging Het
Rad21l T C 2: 151,653,516 T416A probably benign Het
Ruvbl2 A T 7: 45,425,172 S181T probably benign Het
Rxrb A G 17: 34,034,075 T109A probably damaging Het
Ryr3 T A 2: 112,660,149 Y3785F probably damaging Het
Sec16a T C 2: 26,430,101 T1442A probably benign Het
Slc6a14 T A X: 21,734,124 probably benign Het
Slco2b1 G A 7: 99,660,052 Q691* probably null Het
Them5 A G 3: 94,346,189 T169A possibly damaging Het
Trav13-2 T C 14: 53,635,231 F55L possibly damaging Het
Tst A T 15: 78,405,461 S125T probably damaging Het
Ttn T C 2: 76,800,524 T14179A probably benign Het
Vps37b A G 5: 124,010,787 Y62H probably damaging Het
Other mutations in Arhgap28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01388:Arhgap28 APN 17 67853039 unclassified probably benign
IGL01560:Arhgap28 APN 17 67896071 missense probably damaging 1.00
IGL01578:Arhgap28 APN 17 67858200 missense probably benign 0.00
IGL01650:Arhgap28 APN 17 67873132 missense probably damaging 0.97
IGL02383:Arhgap28 APN 17 67896089 missense probably benign 0.00
IGL02403:Arhgap28 APN 17 67873159 missense possibly damaging 0.87
IGL02652:Arhgap28 APN 17 67884800 missense probably benign 0.00
IGL03102:Arhgap28 APN 17 67896236 missense probably damaging 1.00
IGL03209:Arhgap28 APN 17 67868956 missense probably damaging 1.00
IGL03306:Arhgap28 APN 17 67852935 missense probably damaging 1.00
K3955:Arhgap28 UTSW 17 68004006 missense probably damaging 0.98
R0135:Arhgap28 UTSW 17 67864588 missense probably damaging 1.00
R0309:Arhgap28 UTSW 17 67901429 missense probably benign 0.13
R0385:Arhgap28 UTSW 17 67864606 missense probably damaging 1.00
R0412:Arhgap28 UTSW 17 67896258 missense probably damaging 1.00
R0463:Arhgap28 UTSW 17 67896225 missense probably damaging 1.00
R0626:Arhgap28 UTSW 17 67896113 unclassified probably null
R0691:Arhgap28 UTSW 17 67896164 unclassified probably null
R0811:Arhgap28 UTSW 17 67901299 small deletion probably benign
R1150:Arhgap28 UTSW 17 67857464 missense probably damaging 1.00
R1151:Arhgap28 UTSW 17 67857464 missense probably damaging 1.00
R1152:Arhgap28 UTSW 17 67857464 missense probably damaging 1.00
R1426:Arhgap28 UTSW 17 67857464 missense probably damaging 1.00
R1427:Arhgap28 UTSW 17 67857464 missense probably damaging 1.00
R1632:Arhgap28 UTSW 17 67849074 missense probably damaging 0.99
R1747:Arhgap28 UTSW 17 67901309 missense probably benign 0.02
R1951:Arhgap28 UTSW 17 67901341 missense probably benign 0.00
R2031:Arhgap28 UTSW 17 67896116 missense probably damaging 1.00
R2126:Arhgap28 UTSW 17 67869015 missense possibly damaging 0.90
R2181:Arhgap28 UTSW 17 67896117 missense probably damaging 1.00
R3700:Arhgap28 UTSW 17 67901366 missense probably damaging 1.00
R3800:Arhgap28 UTSW 17 67873036 missense probably damaging 1.00
R3811:Arhgap28 UTSW 17 67896093 missense probably benign
R4213:Arhgap28 UTSW 17 67871993 missense probably benign 0.04
R4347:Arhgap28 UTSW 17 67873142 missense probably benign
R4954:Arhgap28 UTSW 17 67869013 nonsense probably null
R5592:Arhgap28 UTSW 17 67858272 missense probably damaging 0.99
R5610:Arhgap28 UTSW 17 67896240 nonsense probably null
R5758:Arhgap28 UTSW 17 67873159 missense probably benign 0.04
R5774:Arhgap28 UTSW 17 67881492 missense possibly damaging 0.94
R6413:Arhgap28 UTSW 17 67875588 missense probably benign 0.00
R6661:Arhgap28 UTSW 17 67845751 missense probably damaging 1.00
R6928:Arhgap28 UTSW 17 67901299 small deletion probably benign
Z1088:Arhgap28 UTSW 17 67861277 missense possibly damaging 0.62
Posted On2012-04-20