Incidental Mutation 'IGL00492:Arhgap29'
ID 6761
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgap29
Ensembl Gene ENSMUSG00000039831
Gene Name Rho GTPase activating protein 29
Synonyms C76601, Parg1, B130017I01Rik, 6720461J18Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00492
Quality Score
Status
Chromosome 3
Chromosomal Location 121746752-121810326 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 121796961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 108 (E108*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037958] [ENSMUST00000197155]
AlphaFold Q8CGF1
Predicted Effect probably null
Transcript: ENSMUST00000037958
AA Change: E516*
SMART Domains Protein: ENSMUSP00000044624
Gene: ENSMUSG00000039831
AA Change: E516*

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
PDB:3QWE|A 193 469 5e-41 PDB
Blast:RhoGAP 412 595 9e-84 BLAST
C1 613 659 2.48e-6 SMART
RhoGAP 684 885 1.92e-68 SMART
low complexity region 947 961 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000197155
AA Change: E516*
SMART Domains Protein: ENSMUSP00000142945
Gene: ENSMUSG00000039831
AA Change: E516*

DomainStartEndE-ValueType
low complexity region 5 12 N/A INTRINSIC
PDB:3QWE|A 193 469 8e-42 PDB
Blast:RhoGAP 412 595 2e-87 BLAST
C1 613 659 2.48e-6 SMART
RhoGAP 684 780 1.14e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000198914
AA Change: E108*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199550
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Braf A T 6: 39,637,933 (GRCm39) probably null Het
Calr3 G A 8: 73,185,240 (GRCm39) Q112* probably null Het
Dis3 A G 14: 99,320,110 (GRCm39) I649T probably damaging Het
Dop1b T C 16: 93,577,670 (GRCm39) V65A probably benign Het
Dpp4 A G 2: 62,209,646 (GRCm39) Y126H probably damaging Het
Dtwd2 A T 18: 49,856,776 (GRCm39) Y170* probably null Het
Efcab7 A G 4: 99,719,700 (GRCm39) T61A probably benign Het
Fbxl3 G T 14: 103,332,730 (GRCm39) L83M probably damaging Het
Fbxo17 A C 7: 28,434,766 (GRCm39) S184R probably damaging Het
Fcf1 T C 12: 85,029,106 (GRCm39) probably null Het
Hcrtr2 T C 9: 76,153,723 (GRCm39) Y223C probably damaging Het
Kcnn1 A G 8: 71,300,706 (GRCm39) F432S probably benign Het
Kmt2a C T 9: 44,719,231 (GRCm39) probably benign Het
Lce1j T C 3: 92,696,713 (GRCm39) T22A unknown Het
Lrfn5 T A 12: 61,890,912 (GRCm39) S734T probably benign Het
Lyst T A 13: 13,852,760 (GRCm39) S2253R possibly damaging Het
Msantd5f1 C T 4: 73,605,570 (GRCm39) T327I probably damaging Het
Myrfl G A 10: 116,632,011 (GRCm39) L645F possibly damaging Het
Nudt9 A G 5: 104,209,628 (GRCm39) probably benign Het
Ostn T A 16: 27,140,132 (GRCm39) M15K possibly damaging Het
Psg20 T C 7: 18,408,536 (GRCm39) T395A possibly damaging Het
Rpf1 G A 3: 146,218,002 (GRCm39) H171Y probably benign Het
Shprh A G 10: 11,063,902 (GRCm39) E1325G probably damaging Het
Slc22a8 G T 19: 8,571,499 (GRCm39) V77L probably benign Het
Tbck A C 3: 132,428,501 (GRCm39) K285N probably benign Het
Vmn1r86 C T 7: 12,836,468 (GRCm39) C86Y possibly damaging Het
Zdhhc20 A G 14: 58,111,381 (GRCm39) I73T probably damaging Het
Zfp512b T C 2: 181,228,862 (GRCm39) D701G probably damaging Het
Zfp735 T A 11: 73,602,192 (GRCm39) Y379N possibly damaging Het
Znfx1 G T 2: 166,878,843 (GRCm39) H980Q probably damaging Het
Other mutations in Arhgap29
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01121:Arhgap29 APN 3 121,803,512 (GRCm39) missense probably damaging 1.00
IGL01622:Arhgap29 APN 3 121,767,773 (GRCm39) splice site probably benign
IGL01623:Arhgap29 APN 3 121,767,773 (GRCm39) splice site probably benign
IGL01995:Arhgap29 APN 3 121,807,977 (GRCm39) missense probably benign 0.00
IGL02120:Arhgap29 APN 3 121,797,906 (GRCm39) missense probably benign 0.05
IGL02554:Arhgap29 APN 3 121,786,173 (GRCm39) unclassified probably benign
IGL02931:Arhgap29 APN 3 121,786,509 (GRCm39) missense probably benign
IGL02937:Arhgap29 APN 3 121,767,698 (GRCm39) missense probably damaging 0.99
PIT4362001:Arhgap29 UTSW 3 121,796,861 (GRCm39) missense probably benign 0.42
R0022:Arhgap29 UTSW 3 121,782,586 (GRCm39) missense possibly damaging 0.61
R0574:Arhgap29 UTSW 3 121,801,274 (GRCm39) missense probably benign 0.01
R0601:Arhgap29 UTSW 3 121,784,759 (GRCm39) missense probably damaging 1.00
R0639:Arhgap29 UTSW 3 121,801,290 (GRCm39) missense probably damaging 1.00
R0881:Arhgap29 UTSW 3 121,808,328 (GRCm39) missense probably damaging 1.00
R1232:Arhgap29 UTSW 3 121,796,989 (GRCm39) missense probably damaging 1.00
R1295:Arhgap29 UTSW 3 121,786,044 (GRCm39) missense probably benign 0.27
R1296:Arhgap29 UTSW 3 121,786,044 (GRCm39) missense probably benign 0.27
R1403:Arhgap29 UTSW 3 121,767,578 (GRCm39) missense probably damaging 1.00
R1403:Arhgap29 UTSW 3 121,767,578 (GRCm39) missense probably damaging 1.00
R1470:Arhgap29 UTSW 3 121,785,968 (GRCm39) unclassified probably benign
R1710:Arhgap29 UTSW 3 121,801,729 (GRCm39) missense probably damaging 1.00
R1878:Arhgap29 UTSW 3 121,805,020 (GRCm39) missense probably damaging 1.00
R2051:Arhgap29 UTSW 3 121,775,509 (GRCm39) missense probably benign 0.01
R2112:Arhgap29 UTSW 3 121,805,210 (GRCm39) missense probably benign 0.03
R2188:Arhgap29 UTSW 3 121,784,658 (GRCm39) missense probably damaging 1.00
R2240:Arhgap29 UTSW 3 121,805,102 (GRCm39) missense probably benign 0.12
R2420:Arhgap29 UTSW 3 121,767,629 (GRCm39) missense probably benign
R3618:Arhgap29 UTSW 3 121,782,176 (GRCm39) missense possibly damaging 0.62
R4673:Arhgap29 UTSW 3 121,808,620 (GRCm39) missense probably damaging 1.00
R4717:Arhgap29 UTSW 3 121,803,607 (GRCm39) missense possibly damaging 0.82
R5028:Arhgap29 UTSW 3 121,803,709 (GRCm39) critical splice donor site probably null
R5043:Arhgap29 UTSW 3 121,767,653 (GRCm39) missense probably benign 0.00
R5045:Arhgap29 UTSW 3 121,796,244 (GRCm39) missense probably benign 0.28
R5463:Arhgap29 UTSW 3 121,782,200 (GRCm39) missense possibly damaging 0.94
R5495:Arhgap29 UTSW 3 121,808,578 (GRCm39) missense probably damaging 1.00
R5743:Arhgap29 UTSW 3 121,775,560 (GRCm39) missense probably damaging 1.00
R5791:Arhgap29 UTSW 3 121,807,894 (GRCm39) missense probably damaging 0.98
R5896:Arhgap29 UTSW 3 121,805,736 (GRCm39) missense possibly damaging 0.78
R6083:Arhgap29 UTSW 3 121,786,397 (GRCm39) missense probably benign 0.00
R6355:Arhgap29 UTSW 3 121,804,907 (GRCm39) missense possibly damaging 0.46
R6451:Arhgap29 UTSW 3 121,787,230 (GRCm39) missense probably damaging 1.00
R6528:Arhgap29 UTSW 3 121,808,351 (GRCm39) missense probably benign 0.13
R7239:Arhgap29 UTSW 3 121,782,599 (GRCm39) missense probably benign 0.16
R7669:Arhgap29 UTSW 3 121,786,461 (GRCm39) missense probably damaging 1.00
R7807:Arhgap29 UTSW 3 121,807,981 (GRCm39) missense probably benign 0.01
R8045:Arhgap29 UTSW 3 121,801,211 (GRCm39) synonymous silent
R8048:Arhgap29 UTSW 3 121,786,550 (GRCm39) missense probably damaging 1.00
R8165:Arhgap29 UTSW 3 121,782,222 (GRCm39) missense probably damaging 0.98
R9001:Arhgap29 UTSW 3 121,775,523 (GRCm39) missense probably benign 0.03
R9032:Arhgap29 UTSW 3 121,808,249 (GRCm39) missense probably benign
R9060:Arhgap29 UTSW 3 121,783,973 (GRCm39) missense probably damaging 0.99
R9085:Arhgap29 UTSW 3 121,808,249 (GRCm39) missense probably benign
R9717:Arhgap29 UTSW 3 121,797,920 (GRCm39) missense probably benign 0.01
Posted On 2012-04-20