Incidental Mutation 'R8206:Arhgap26'
ID 635940
Institutional Source Beutler Lab
Gene Symbol Arhgap26
Ensembl Gene ENSMUSG00000036452
Gene Name Rho GTPase activating protein 26
Synonyms 4933432P15Rik, 2610010G17Rik, 1810044B20Rik
MMRRC Submission 067629-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8206 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 38734531-39509338 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 39439803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 247 (S247*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097593] [ENSMUST00000137497] [ENSMUST00000141058] [ENSMUST00000151757] [ENSMUST00000155576]
AlphaFold Q6ZQ82
Predicted Effect probably null
Transcript: ENSMUST00000097593
AA Change: S629*
SMART Domains Protein: ENSMUSP00000095200
Gene: ENSMUSG00000036452
AA Change: S629*

DomainStartEndE-ValueType
Pfam:BAR_3 6 249 1.8e-90 PFAM
Pfam:IMD 26 231 2.8e-9 PFAM
PH 266 371 3.23e-8 SMART
RhoGAP 387 565 4.51e-65 SMART
low complexity region 584 600 N/A INTRINSIC
low complexity region 617 652 N/A INTRINSIC
low complexity region 657 701 N/A INTRINSIC
SH3 759 814 5.11e-14 SMART
Predicted Effect probably null
Transcript: ENSMUST00000137497
AA Change: S78*
SMART Domains Protein: ENSMUSP00000121197
Gene: ENSMUSG00000036452
AA Change: S78*

DomainStartEndE-ValueType
PDB:1F7C|A 1 32 7e-9 PDB
Blast:RhoGAP 16 65 2e-9 BLAST
low complexity region 66 101 N/A INTRINSIC
SH3 116 171 5.11e-14 SMART
Predicted Effect probably null
Transcript: ENSMUST00000141058
AA Change: S63*
SMART Domains Protein: ENSMUSP00000119865
Gene: ENSMUSG00000036452
AA Change: S63*

DomainStartEndE-ValueType
Blast:RhoGAP 1 50 9e-10 BLAST
low complexity region 51 86 N/A INTRINSIC
low complexity region 91 132 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000151757
AA Change: S63*
SMART Domains Protein: ENSMUSP00000122448
Gene: ENSMUSG00000036452
AA Change: S63*

DomainStartEndE-ValueType
Blast:RhoGAP 1 50 1e-9 BLAST
low complexity region 51 86 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000154551
AA Change: S247*
SMART Domains Protein: ENSMUSP00000123145
Gene: ENSMUSG00000036452
AA Change: S247*

DomainStartEndE-ValueType
RhoGAP 6 184 4.51e-65 SMART
low complexity region 203 219 N/A INTRINSIC
low complexity region 236 271 N/A INTRINSIC
low complexity region 276 317 N/A INTRINSIC
SH3 333 388 5.11e-14 SMART
Predicted Effect probably null
Transcript: ENSMUST00000155576
AA Change: S629*
SMART Domains Protein: ENSMUSP00000122371
Gene: ENSMUSG00000036452
AA Change: S629*

DomainStartEndE-ValueType
Pfam:IMD 27 232 1.2e-8 PFAM
PH 266 371 3.23e-8 SMART
RhoGAP 387 565 4.51e-65 SMART
low complexity region 584 600 N/A INTRINSIC
low complexity region 617 652 N/A INTRINSIC
low complexity region 657 702 N/A INTRINSIC
SH3 704 759 5.11e-14 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous for a hypomorphic allele display reduced myofiber size, impaired myoblast fusion and abnormal muscle regeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 A G 10: 88,860,958 (GRCm39) Y342H probably damaging Het
Aqp4 T A 18: 15,526,716 (GRCm39) D255V possibly damaging Het
Arid4a A G 12: 71,133,361 (GRCm39) D1154G probably damaging Het
Atpaf2 A G 11: 60,295,304 (GRCm39) I182T probably damaging Het
Cacna1i C A 15: 80,274,016 (GRCm39) probably null Het
Ccdc38 A G 10: 93,399,146 (GRCm39) S205G probably damaging Het
Cep63 A G 9: 102,498,470 (GRCm39) probably benign Het
Cripto G A 9: 110,773,352 (GRCm39) probably benign Het
Cyp24a1 T C 2: 170,333,589 (GRCm39) T255A possibly damaging Het
Dlg5 A G 14: 24,210,336 (GRCm39) S787P possibly damaging Het
Dnah6 A T 6: 73,014,549 (GRCm39) C3679* probably null Het
Dpy19l3 T C 7: 35,429,155 (GRCm39) Y95C probably damaging Het
Erc2 G A 14: 28,024,972 (GRCm39) probably null Het
Ezh2 A T 6: 47,509,834 (GRCm39) probably null Het
Fgfr1 A G 8: 26,060,258 (GRCm39) T463A probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Fsip2 T C 2: 82,820,808 (GRCm39) S5514P possibly damaging Het
Glrb A G 3: 80,758,373 (GRCm39) Y347H probably damaging Het
Gm14325 C A 2: 177,474,767 (GRCm39) C105F probably damaging Het
Hgsnat T C 8: 26,444,665 (GRCm39) T428A probably damaging Het
Ighv1-76 T C 12: 115,811,934 (GRCm39) M1V probably null Het
Inppl1 A G 7: 101,472,783 (GRCm39) I1207T possibly damaging Het
Kmt2c T A 5: 25,519,537 (GRCm39) Q2191L probably damaging Het
Krt79 T A 15: 101,848,705 (GRCm39) probably null Het
Mast4 G A 13: 102,872,247 (GRCm39) L2374F probably damaging Het
Mgam A G 6: 40,657,169 (GRCm39) N951S probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 A T 13: 100,431,344 (GRCm39) C1164* probably null Het
Nfatc2ip G T 7: 125,989,906 (GRCm39) D189E probably damaging Het
Nrp1 A G 8: 129,184,438 (GRCm39) D361G probably damaging Het
Nrp2 T C 1: 62,786,374 (GRCm39) I293T probably damaging Het
Pate5 A T 9: 35,750,719 (GRCm39) F34L possibly damaging Het
Pde3a T C 6: 141,433,611 (GRCm39) V831A probably damaging Het
Pirb A G 7: 3,715,905 (GRCm39) probably null Het
Plch1 G T 3: 63,610,047 (GRCm39) probably null Het
Plekhh2 A G 17: 84,898,277 (GRCm39) T973A possibly damaging Het
Ppp1r35 T A 5: 137,778,296 (GRCm39) I97K unknown Het
Ppp1r3c C T 19: 36,710,846 (GRCm39) G308E probably benign Het
Prss12 G A 3: 123,258,611 (GRCm39) probably null Het
Rad51b A G 12: 79,361,715 (GRCm39) D142G probably damaging Het
Slc13a3 C T 2: 165,248,745 (GRCm39) G553D probably damaging Het
Spata31d1d A C 13: 59,879,344 (GRCm39) V64G probably benign Het
Srp68 G A 11: 116,164,809 (GRCm39) R42C probably damaging Het
Syne2 T C 12: 76,062,365 (GRCm39) V4229A probably benign Het
Tas2r144 G A 6: 42,192,325 (GRCm39) V22M probably damaging Het
Tcf7l1 A G 6: 72,604,395 (GRCm39) L583P probably damaging Het
Tdrd3 A G 14: 87,749,214 (GRCm39) D708G probably benign Het
Tns4 A T 11: 98,976,627 (GRCm39) L98Q probably damaging Het
Zfp677 T A 17: 21,612,717 (GRCm39) probably null Het
Other mutations in Arhgap26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Arhgap26 APN 18 39,419,604 (GRCm39) missense probably damaging 1.00
IGL01116:Arhgap26 APN 18 39,244,856 (GRCm39) missense probably damaging 0.97
IGL01409:Arhgap26 APN 18 39,243,504 (GRCm39) splice site probably benign
IGL02316:Arhgap26 APN 18 38,775,599 (GRCm39) exon noncoding transcript
IGL02418:Arhgap26 APN 18 39,490,620 (GRCm39) intron probably benign
IGL02588:Arhgap26 APN 18 38,734,670 (GRCm39) unclassified probably benign
IGL03241:Arhgap26 APN 18 39,362,970 (GRCm39) missense probably damaging 1.00
R0184:Arhgap26 UTSW 18 38,750,726 (GRCm39) missense unknown
R0244:Arhgap26 UTSW 18 39,496,184 (GRCm39) missense probably benign 0.05
R0347:Arhgap26 UTSW 18 38,750,797 (GRCm39) missense unknown
R1533:Arhgap26 UTSW 18 39,504,130 (GRCm39) missense probably benign 0.16
R1606:Arhgap26 UTSW 18 39,429,925 (GRCm39) missense probably damaging 1.00
R2066:Arhgap26 UTSW 18 39,439,781 (GRCm39) missense probably damaging 1.00
R2182:Arhgap26 UTSW 18 39,490,862 (GRCm39) intron probably benign
R2291:Arhgap26 UTSW 18 39,490,751 (GRCm39) intron probably benign
R3611:Arhgap26 UTSW 18 39,066,972 (GRCm39) missense probably benign
R3700:Arhgap26 UTSW 18 39,253,237 (GRCm39) missense probably damaging 0.99
R3887:Arhgap26 UTSW 18 39,363,019 (GRCm39) critical splice donor site probably null
R4621:Arhgap26 UTSW 18 39,032,894 (GRCm39) intron probably benign
R4877:Arhgap26 UTSW 18 39,429,982 (GRCm39) splice site probably null
R4910:Arhgap26 UTSW 18 39,126,690 (GRCm39) splice site probably benign
R4911:Arhgap26 UTSW 18 39,126,690 (GRCm39) splice site probably benign
R4954:Arhgap26 UTSW 18 39,376,694 (GRCm39) missense probably benign 0.00
R4967:Arhgap26 UTSW 18 39,379,893 (GRCm39) missense probably damaging 1.00
R5221:Arhgap26 UTSW 18 39,243,525 (GRCm39) nonsense probably null
R5232:Arhgap26 UTSW 18 39,126,529 (GRCm39) start codon destroyed probably null 0.97
R5297:Arhgap26 UTSW 18 39,254,941 (GRCm39) missense probably damaging 1.00
R5372:Arhgap26 UTSW 18 38,775,509 (GRCm39) exon noncoding transcript
R5570:Arhgap26 UTSW 18 39,232,671 (GRCm39) missense probably damaging 0.99
R5692:Arhgap26 UTSW 18 39,254,945 (GRCm39) missense probably damaging 1.00
R5752:Arhgap26 UTSW 18 39,419,725 (GRCm39) missense probably damaging 1.00
R5930:Arhgap26 UTSW 18 39,283,145 (GRCm39) missense probably damaging 0.96
R6131:Arhgap26 UTSW 18 39,419,638 (GRCm39) nonsense probably null
R6251:Arhgap26 UTSW 18 39,490,880 (GRCm39) missense probably null
R6481:Arhgap26 UTSW 18 39,283,110 (GRCm39) missense probably damaging 1.00
R6622:Arhgap26 UTSW 18 39,032,916 (GRCm39) intron probably benign
R6799:Arhgap26 UTSW 18 39,232,660 (GRCm39) missense probably damaging 1.00
R6878:Arhgap26 UTSW 18 39,360,465 (GRCm39) missense probably damaging 1.00
R6989:Arhgap26 UTSW 18 39,232,682 (GRCm39) missense probably damaging 1.00
R7248:Arhgap26 UTSW 18 39,439,907 (GRCm39) critical splice donor site probably null
R7936:Arhgap26 UTSW 18 39,338,340 (GRCm39) missense probably damaging 1.00
R7960:Arhgap26 UTSW 18 39,362,980 (GRCm39) missense
R8103:Arhgap26 UTSW 18 39,504,177 (GRCm39) missense
R8356:Arhgap26 UTSW 18 39,244,901 (GRCm39) missense possibly damaging 0.89
R8456:Arhgap26 UTSW 18 39,244,901 (GRCm39) missense possibly damaging 0.89
R8987:Arhgap26 UTSW 18 39,490,652 (GRCm39) missense
R9025:Arhgap26 UTSW 18 39,379,898 (GRCm39) missense
R9149:Arhgap26 UTSW 18 39,244,917 (GRCm39) missense possibly damaging 0.94
R9172:Arhgap26 UTSW 18 39,378,382 (GRCm39) missense probably damaging 1.00
R9191:Arhgap26 UTSW 18 39,439,893 (GRCm39) missense
R9576:Arhgap26 UTSW 18 39,253,207 (GRCm39) nonsense probably null
X0013:Arhgap26 UTSW 18 39,504,165 (GRCm39) missense probably damaging 1.00
X0025:Arhgap26 UTSW 18 39,283,158 (GRCm39) missense probably damaging 1.00
Z1088:Arhgap26 UTSW 18 39,490,724 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- AATGCTCTTCCTCGCTGAGC -3'
(R):5'- AGGTTAAGCCGGAGAAATTCTG -3'

Sequencing Primer
(F):5'- GTCAAGTTGGCACTGAACTCC -3'
(R):5'- AATTCTGGTAGGACAGATGCTG -3'
Posted On 2020-07-13