Incidental Mutation 'IGL01975:Arhgap20'
ID 182626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap20
Ensembl Gene ENSMUSG00000053199
Gene Name Rho GTPase activating protein 20
Synonyms 6530403F17Rik, A530023E23Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.329) question?
Stock # IGL01975
Quality Score
Status
Chromosome 9
Chromosomal Location 51676651-51765158 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 51761097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 947 (Q947*)
Ref Sequence ENSEMBL: ENSMUSP00000120124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065496] [ENSMUST00000130405]
AlphaFold Q6IFT4
Predicted Effect probably null
Transcript: ENSMUST00000065496
AA Change: Q983*
SMART Domains Protein: ENSMUSP00000065633
Gene: ENSMUSG00000053199
AA Change: Q983*

DomainStartEndE-ValueType
PH 86 187 3.31e-5 SMART
Pfam:RA 194 283 3.6e-15 PFAM
RhoGAP 374 548 1.27e-41 SMART
internal_repeat_1 655 779 9.97e-15 PROSPERO
internal_repeat_1 797 922 9.97e-15 PROSPERO
low complexity region 935 962 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130086
Predicted Effect probably null
Transcript: ENSMUST00000130405
AA Change: Q947*
SMART Domains Protein: ENSMUSP00000120124
Gene: ENSMUSG00000053199
AA Change: Q947*

DomainStartEndE-ValueType
PH 50 151 3.31e-5 SMART
Pfam:RA 158 247 3.3e-14 PFAM
RhoGAP 338 512 1.27e-41 SMART
internal_repeat_1 619 743 7.07e-15 PROSPERO
internal_repeat_1 761 886 7.07e-15 PROSPERO
low complexity region 899 926 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142579
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149754
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152203
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 C T 5: 8,217,396 (GRCm39) C133Y probably damaging Het
Akap3 G T 6: 126,850,963 (GRCm39) S827I probably damaging Het
Csf2rb2 A G 15: 78,173,086 (GRCm39) I258T probably benign Het
Egln2 T C 7: 26,859,745 (GRCm39) I323V possibly damaging Het
Erlin1 C A 19: 44,025,370 (GRCm39) G348V probably damaging Het
Fbxo38 C T 18: 62,648,484 (GRCm39) A685T probably damaging Het
Gm10272 G A 10: 77,542,608 (GRCm39) C50Y probably damaging Het
Gm11559 G T 11: 99,755,682 (GRCm39) Q110H unknown Het
Gpr75 T C 11: 30,841,835 (GRCm39) S247P probably benign Het
Grid1 A T 14: 35,045,383 (GRCm39) M409L probably benign Het
Herc3 A C 6: 58,893,561 (GRCm39) D941A possibly damaging Het
Ilf3 T A 9: 21,303,675 (GRCm39) S166T probably benign Het
Kcnu1 A C 8: 26,424,525 (GRCm39) E273D probably benign Het
Kdm8 A G 7: 125,051,529 (GRCm39) S41G probably benign Het
Ldlr G A 9: 21,644,993 (GRCm39) V174I probably benign Het
Lpar5 T C 6: 125,058,750 (GRCm39) L157P probably damaging Het
Mcrs1 A G 15: 99,141,559 (GRCm39) probably null Het
Ndst3 T A 3: 123,395,163 (GRCm39) Y489F possibly damaging Het
Or6c69c A G 10: 129,911,139 (GRCm39) I287V probably damaging Het
Palmd A T 3: 116,717,283 (GRCm39) S405T probably benign Het
Ptger1 T C 8: 84,396,149 (GRCm39) probably benign Het
Rbp3 A T 14: 33,680,602 (GRCm39) K1068M probably damaging Het
Rimbp2 T C 5: 128,874,712 (GRCm39) D293G probably benign Het
Rnf20 T A 4: 49,654,473 (GRCm39) D843E probably benign Het
Rxfp1 A G 3: 79,567,385 (GRCm39) S322P possibly damaging Het
Slc22a8 T A 19: 8,582,775 (GRCm39) I152N probably damaging Het
Slc6a21 T A 7: 44,937,275 (GRCm39) D268E probably benign Het
Sstr1 A G 12: 58,260,412 (GRCm39) N345S probably benign Het
Stx17 T C 4: 48,180,670 (GRCm39) S172P probably damaging Het
Syne1 A G 10: 5,018,908 (GRCm39) probably benign Het
Tpte A G 8: 22,839,353 (GRCm39) T467A probably damaging Het
Trappc12 A G 12: 28,742,491 (GRCm39) probably null Het
Trav13-2 A T 14: 53,872,823 (GRCm39) T100S possibly damaging Het
Trip12 A G 1: 84,792,534 (GRCm39) probably benign Het
Wdr36 A G 18: 32,985,541 (GRCm39) H486R probably damaging Het
Zswim5 T C 4: 116,822,889 (GRCm39) I453T probably benign Het
Other mutations in Arhgap20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Arhgap20 APN 9 51,760,713 (GRCm39) missense probably benign 0.00
IGL01542:Arhgap20 APN 9 51,750,187 (GRCm39) missense probably benign
IGL01815:Arhgap20 APN 9 51,757,468 (GRCm39) missense probably damaging 1.00
IGL02041:Arhgap20 APN 9 51,757,490 (GRCm39) missense possibly damaging 0.92
IGL02557:Arhgap20 APN 9 51,732,573 (GRCm39) missense probably damaging 1.00
IGL02602:Arhgap20 APN 9 51,737,143 (GRCm39) missense probably damaging 1.00
IGL02741:Arhgap20 APN 9 51,759,945 (GRCm39) missense probably benign 0.17
IGL02792:Arhgap20 APN 9 51,761,218 (GRCm39) missense possibly damaging 0.89
IGL03166:Arhgap20 APN 9 51,761,077 (GRCm39) missense possibly damaging 0.63
P0047:Arhgap20 UTSW 9 51,760,536 (GRCm39) missense probably damaging 1.00
R0115:Arhgap20 UTSW 9 51,750,272 (GRCm39) missense probably damaging 1.00
R0121:Arhgap20 UTSW 9 51,750,251 (GRCm39) missense possibly damaging 0.91
R0539:Arhgap20 UTSW 9 51,761,455 (GRCm39) missense probably benign 0.01
R0541:Arhgap20 UTSW 9 51,760,963 (GRCm39) missense probably damaging 1.00
R0551:Arhgap20 UTSW 9 51,737,125 (GRCm39) splice site probably benign
R0570:Arhgap20 UTSW 9 51,751,751 (GRCm39) missense possibly damaging 0.56
R0630:Arhgap20 UTSW 9 51,760,684 (GRCm39) missense probably damaging 0.98
R0931:Arhgap20 UTSW 9 51,728,041 (GRCm39) missense probably benign 0.30
R0992:Arhgap20 UTSW 9 51,728,086 (GRCm39) missense probably damaging 0.96
R1052:Arhgap20 UTSW 9 51,757,570 (GRCm39) missense probably damaging 0.98
R1779:Arhgap20 UTSW 9 51,761,215 (GRCm39) missense probably benign
R1839:Arhgap20 UTSW 9 51,760,626 (GRCm39) missense probably damaging 0.99
R1942:Arhgap20 UTSW 9 51,742,998 (GRCm39) missense probably benign 0.43
R2292:Arhgap20 UTSW 9 51,760,743 (GRCm39) missense possibly damaging 0.63
R3896:Arhgap20 UTSW 9 51,728,137 (GRCm39) missense probably damaging 0.96
R4109:Arhgap20 UTSW 9 51,727,985 (GRCm39) missense possibly damaging 0.60
R4166:Arhgap20 UTSW 9 51,738,135 (GRCm39) critical splice acceptor site probably null
R4631:Arhgap20 UTSW 9 51,751,653 (GRCm39) intron probably benign
R4692:Arhgap20 UTSW 9 51,697,088 (GRCm39) missense probably damaging 1.00
R5273:Arhgap20 UTSW 9 51,759,916 (GRCm39) missense probably damaging 1.00
R5505:Arhgap20 UTSW 9 51,750,248 (GRCm39) missense probably damaging 0.98
R5743:Arhgap20 UTSW 9 51,728,027 (GRCm39) missense probably benign 0.17
R5847:Arhgap20 UTSW 9 51,736,276 (GRCm39) intron probably benign
R6006:Arhgap20 UTSW 9 51,761,426 (GRCm39) missense probably benign
R6112:Arhgap20 UTSW 9 51,740,684 (GRCm39) missense probably damaging 1.00
R6355:Arhgap20 UTSW 9 51,755,020 (GRCm39) missense probably damaging 1.00
R6576:Arhgap20 UTSW 9 51,760,578 (GRCm39) missense probably benign 0.03
R6801:Arhgap20 UTSW 9 51,759,892 (GRCm39) missense probably damaging 1.00
R7130:Arhgap20 UTSW 9 51,761,047 (GRCm39) missense probably damaging 0.98
R7318:Arhgap20 UTSW 9 51,751,802 (GRCm39) missense probably benign
R7347:Arhgap20 UTSW 9 51,760,335 (GRCm39) missense probably benign 0.07
R7500:Arhgap20 UTSW 9 51,751,802 (GRCm39) missense probably benign
R7598:Arhgap20 UTSW 9 51,761,090 (GRCm39) missense possibly damaging 0.95
R7677:Arhgap20 UTSW 9 51,751,698 (GRCm39) missense probably damaging 0.97
R7725:Arhgap20 UTSW 9 51,743,050 (GRCm39) missense possibly damaging 0.80
R8086:Arhgap20 UTSW 9 51,760,563 (GRCm39) missense probably benign 0.00
R8122:Arhgap20 UTSW 9 51,761,293 (GRCm39) missense probably damaging 0.99
R8125:Arhgap20 UTSW 9 51,738,209 (GRCm39) missense probably damaging 0.99
R8196:Arhgap20 UTSW 9 51,760,277 (GRCm39) missense possibly damaging 0.94
R8783:Arhgap20 UTSW 9 51,727,967 (GRCm39) splice site probably benign
R8972:Arhgap20 UTSW 9 51,760,311 (GRCm39) missense probably benign 0.03
R9027:Arhgap20 UTSW 9 51,754,977 (GRCm39) missense probably damaging 1.00
R9427:Arhgap20 UTSW 9 51,754,991 (GRCm39) missense probably damaging 1.00
R9564:Arhgap20 UTSW 9 51,761,413 (GRCm39) frame shift probably null
R9741:Arhgap20 UTSW 9 51,760,730 (GRCm39) nonsense probably null
Z1177:Arhgap20 UTSW 9 51,736,224 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07