Incidental Mutation 'R5592:Arhgap28'
ID 437599
Institutional Source Beutler Lab
Gene Symbol Arhgap28
Ensembl Gene ENSMUSG00000024043
Gene Name Rho GTPase activating protein 28
Synonyms
MMRRC Submission 043144-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5592 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 68149708-68311115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68165267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 543 (M543K)
Ref Sequence ENSEMBL: ENSMUSP00000024840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024840] [ENSMUST00000163865] [ENSMUST00000164647]
AlphaFold Q8BN58
Predicted Effect probably damaging
Transcript: ENSMUST00000024840
AA Change: M543K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000024840
Gene: ENSMUSG00000024043
AA Change: M543K

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 possibly damaging
Transcript: ENSMUST00000163865
AA Change: M492K

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130960
Gene: ENSMUSG00000024043
AA Change: M492K

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: M493K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128194
Gene: ENSMUSG00000024043
AA Change: M493K

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: ENSMUST00000170813
SMART Domains Protein: ENSMUSP00000132087
Gene: ENSMUSG00000024043

DomainStartEndE-ValueType
RhoGAP 87 208 7.57e-4 SMART
Meta Mutation Damage Score 0.8403 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik A T 1: 85,654,332 (GRCm39) F2I probably damaging Het
Adam17 C T 12: 21,384,138 (GRCm39) S454N probably damaging Het
Adcy1 A T 11: 7,089,088 (GRCm39) K501* probably null Het
Art3 T A 5: 92,540,679 (GRCm39) Y141N probably damaging Het
Ccdc38 C T 10: 93,386,064 (GRCm39) T60I possibly damaging Het
Crmp1 A C 5: 37,422,609 (GRCm39) I139L probably benign Het
Cul9 G A 17: 46,831,517 (GRCm39) L1566F probably benign Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Drd1 A T 13: 54,208,190 (GRCm39) M1K probably null Het
Flii T G 11: 60,611,225 (GRCm39) M449L probably benign Het
Galnt16 T C 12: 80,635,293 (GRCm39) V343A probably damaging Het
Gimap4 A T 6: 48,668,092 (GRCm39) E154D probably damaging Het
Glmp T G 3: 88,233,333 (GRCm39) probably benign Het
Glt1d1 A T 5: 127,734,183 (GRCm39) D119V probably benign Het
Gm5930 C T 14: 44,568,886 (GRCm39) M245I probably benign Het
Golgb1 T A 16: 36,746,125 (GRCm39) H2901Q probably benign Het
Krt12 C T 11: 99,311,650 (GRCm39) V184I probably benign Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Mier3 T A 13: 111,843,195 (GRCm39) Y182* probably null Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mmp25 A G 17: 23,859,176 (GRCm39) V157A possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Ms4a6c A G 19: 11,458,496 (GRCm39) probably benign Het
Ms4a6c A G 19: 11,457,641 (GRCm39) probably benign Het
Muc19 T C 15: 91,828,199 (GRCm39) noncoding transcript Het
Mucl3 T C 17: 35,954,535 (GRCm39) Y9C probably damaging Het
Mycbp2 C A 14: 103,432,113 (GRCm39) M2308I probably benign Het
Myo1a G T 10: 127,549,908 (GRCm39) V463F probably damaging Het
Ogdh A T 11: 6,266,763 (GRCm39) probably null Het
Or52h9 A T 7: 104,202,938 (GRCm39) N271Y probably benign Het
Or5l14 A G 2: 87,792,684 (GRCm39) L184P probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Paip1 C A 13: 119,587,334 (GRCm39) D124E probably damaging Het
Pdcd11 T A 19: 47,091,164 (GRCm39) N379K probably benign Het
Pitpnm2 T C 5: 124,280,212 (GRCm39) E112G probably damaging Het
Prrg4 T C 2: 104,663,123 (GRCm39) Y161C probably benign Het
Rb1 A G 14: 73,449,187 (GRCm39) Y648H probably damaging Het
Rpa3 A T 6: 8,257,694 (GRCm39) M56K probably benign Het
Scarf1 A T 11: 75,416,513 (GRCm39) T652S probably benign Het
Slc16a5 A G 11: 115,363,608 (GRCm39) K423R probably benign Het
Sptan1 C T 2: 29,876,731 (GRCm39) probably benign Het
Ssrp1 T C 2: 84,875,863 (GRCm39) I574T probably benign Het
Synm A G 7: 67,409,264 (GRCm39) L38P probably damaging Het
Ubqln4 T G 3: 88,464,171 (GRCm39) M224R probably damaging Het
Uroc1 A G 6: 90,332,326 (GRCm39) N561S probably damaging Het
Vav1 A G 17: 57,611,835 (GRCm39) Y483C probably benign Het
Vps13a G A 19: 16,702,935 (GRCm39) L673F probably damaging Het
Zfp418 G T 7: 7,184,314 (GRCm39) K92N possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TGAGCTTACGCATCTCCCTG -3'
(R):5'- GGACACATTTGCTCATCCTTG -3'

Sequencing Primer
(F):5'- CTGCAGCTGGTGTCTCTCAGAG -3'
(R):5'- TGCGTACTTTCCTAGCAACACAG -3'
Posted On 2016-10-26