Incidental Mutation 'IGL03209:Arhgap28'
ID 413218
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 # IGL03209
Quality Score
Status
Chromosome 17
Chromosomal Location 68149708-68311115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 68175951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 383 (V383I)
Ref Sequence ENSEMBL: ENSMUSP00000130960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024840] [ENSMUST00000163865] [ENSMUST00000164647]
AlphaFold Q8BN58
Predicted Effect probably damaging
Transcript: ENSMUST00000024840
AA Change: V433I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: V433I

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: V383I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: V383I

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: V383I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: V383I

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 probably benign
Transcript: ENSMUST00000170581
SMART Domains Protein: ENSMUSP00000131903
Gene: ENSMUSG00000024043

DomainStartEndE-ValueType
Blast:RhoGAP 151 213 1e-33 BLAST
SCOP:d1tx4a_ 182 235 1e-10 SMART
Predicted Effect unknown
Transcript: ENSMUST00000170813
AA Change: V119I
SMART Domains Protein: ENSMUSP00000132087
Gene: ENSMUSG00000024043
AA Change: V119I

DomainStartEndE-ValueType
RhoGAP 87 208 7.57e-4 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 C T 2: 26,882,973 (GRCm39) A841V probably benign Het
Alms1 A G 6: 85,576,955 (GRCm39) probably benign Het
Arc A T 15: 74,543,833 (GRCm39) L130Q probably damaging Het
Atf6 T C 1: 170,662,463 (GRCm39) S266G probably benign Het
Cd59b A G 2: 103,914,905 (GRCm39) E101G probably benign Het
Cdc26 T C 4: 62,313,251 (GRCm39) K30R possibly damaging Het
Clns1a A G 7: 97,360,937 (GRCm39) D103G probably null Het
Crispld2 C A 8: 120,757,837 (GRCm39) A394E possibly damaging Het
Cyp51 A T 5: 4,154,195 (GRCm39) L38H probably damaging Het
Dnah7a T G 1: 53,725,773 (GRCm39) probably benign Het
Fbxw2 T C 2: 34,712,675 (GRCm39) R129G probably damaging Het
Fgd3 T C 13: 49,439,294 (GRCm39) Q234R probably damaging Het
Gdpgp1 A G 7: 79,888,847 (GRCm39) T293A probably damaging Het
Hspa12a T G 19: 58,810,493 (GRCm39) probably null Het
Ier5l G T 2: 30,363,067 (GRCm39) D319E possibly damaging Het
Iigp1c T A 18: 60,379,143 (GRCm39) I226N probably damaging Het
Ikzf1 T C 11: 11,650,226 (GRCm39) V3A probably benign Het
Itga2 T C 13: 115,017,168 (GRCm39) N180D probably damaging Het
Lipt1 T C 1: 37,914,150 (GRCm39) S69P probably damaging Het
Lvrn A G 18: 47,022,565 (GRCm39) I734V probably benign Het
Man2c1 A G 9: 57,049,114 (GRCm39) T871A probably benign Het
Ndufs1 A T 1: 63,203,896 (GRCm39) C129S probably damaging Het
Neb A T 2: 52,180,831 (GRCm39) F1232I probably damaging Het
Ngly1 T A 14: 16,281,831 (GRCm38) Y362* probably null Het
Or2h2c A T 17: 37,422,413 (GRCm39) S154T probably benign Het
Or5ak23 A T 2: 85,244,723 (GRCm39) S167T probably benign Het
Patj A G 4: 98,353,377 (GRCm39) D640G probably null Het
Plxnd1 A T 6: 115,939,318 (GRCm39) M1502K probably damaging Het
Sccpdh T C 1: 179,514,238 (GRCm39) V429A possibly damaging Het
Slc25a48 T C 13: 56,618,272 (GRCm39) V303A probably benign Het
Sult2a6 T C 7: 13,959,897 (GRCm39) D212G probably benign Het
Tep1 A T 14: 51,078,160 (GRCm39) probably benign Het
Tmem65 A G 15: 58,656,751 (GRCm39) probably benign Het
Togaram2 T C 17: 72,002,740 (GRCm39) probably null Het
Trim36 T C 18: 46,300,575 (GRCm39) T687A probably benign Het
Unc13b T A 4: 43,239,351 (GRCm39) D3471E probably damaging Het
Urgcp T C 11: 5,667,238 (GRCm39) probably null Het
Zfhx4 A T 3: 5,466,231 (GRCm39) I2155F probably damaging Het
Zfp831 T A 2: 174,487,059 (GRCm39) V578E 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
IGL02652:Arhgap28 APN 17 68,191,795 (GRCm39) missense probably benign 0.00
IGL03102:Arhgap28 APN 17 68,203,231 (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 2016-08-02