Incidental Mutation 'R1717:Arhgef7'
ID 191120
Institutional Source Beutler Lab
Gene Symbol Arhgef7
Ensembl Gene ENSMUSG00000031511
Gene Name Rho guanine nucleotide exchange factor
Synonyms betaPix-c, betaPix, Pak interacting exchange factor, p85SPR, betaPix-b, cool-1, Cool, PIX
MMRRC Submission 039750-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1717 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 11778053-11885219 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 11858712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074856] [ENSMUST00000098938] [ENSMUST00000110904] [ENSMUST00000110909] [ENSMUST00000210012]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000033908
SMART Domains Protein: ENSMUSP00000033908
Gene: ENSMUSG00000031511

DomainStartEndE-ValueType
CH 3 107 7.28e-13 SMART
SH3 166 221 9.97e-26 SMART
RhoGEF 254 429 8.36e-43 SMART
PH 459 559 3.77e-9 SMART
low complexity region 600 614 N/A INTRINSIC
low complexity region 630 647 N/A INTRINSIC
low complexity region 660 672 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000074856
SMART Domains Protein: ENSMUSP00000074399
Gene: ENSMUSG00000031511

DomainStartEndE-ValueType
SH3 9 64 9.97e-26 SMART
RhoGEF 97 272 8.36e-43 SMART
PH 302 402 3.77e-9 SMART
low complexity region 443 457 N/A INTRINSIC
low complexity region 473 490 N/A INTRINSIC
low complexity region 503 515 N/A INTRINSIC
PDB:3L4F|C 587 646 2e-32 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000098938
SMART Domains Protein: ENSMUSP00000096538
Gene: ENSMUSG00000031511

DomainStartEndE-ValueType
SH3 9 64 9.97e-26 SMART
RhoGEF 97 272 8.36e-43 SMART
PH 302 402 3.77e-9 SMART
low complexity region 443 457 N/A INTRINSIC
low complexity region 473 490 N/A INTRINSIC
low complexity region 503 515 N/A INTRINSIC
low complexity region 569 600 N/A INTRINSIC
PDB:3L4F|C 646 705 2e-32 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000110904
SMART Domains Protein: ENSMUSP00000106529
Gene: ENSMUSG00000031511

DomainStartEndE-ValueType
SH3 9 64 9.97e-26 SMART
RhoGEF 97 272 8.36e-43 SMART
PH 302 402 3.77e-9 SMART
low complexity region 428 440 N/A INTRINSIC
low complexity region 494 525 N/A INTRINSIC
PDB:3L4F|C 571 630 2e-32 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000110909
SMART Domains Protein: ENSMUSP00000106534
Gene: ENSMUSG00000031511

DomainStartEndE-ValueType
CH 3 107 7.28e-13 SMART
Pfam:RhoGEF67_u1 117 163 8e-21 PFAM
SH3 166 221 9.97e-26 SMART
RhoGEF 254 429 8.36e-43 SMART
PH 459 559 3.77e-9 SMART
Pfam:RhoGEF67_u2 611 711 2.3e-53 PFAM
low complexity region 726 757 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154204
Predicted Effect probably benign
Transcript: ENSMUST00000210012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211510
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (81/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT 10: 95,629,641 (GRCm39) probably null Het
4930583I09Rik T C 17: 65,141,444 (GRCm39) N53S unknown Het
4933434E20Rik T A 3: 89,963,544 (GRCm39) S67T probably benign Het
Abcc8 T C 7: 45,765,239 (GRCm39) I1127V possibly damaging Het
Abcg3 G A 5: 105,111,421 (GRCm39) Q349* probably null Het
Adam2 A G 14: 66,306,007 (GRCm39) L158P probably damaging Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Akap11 C A 14: 78,750,788 (GRCm39) S533I probably benign Het
Aldh1a2 A T 9: 71,200,953 (GRCm39) N517I probably damaging Het
Aldh4a1 A T 4: 139,365,840 (GRCm39) H277L possibly damaging Het
Aldh4a1 G A 4: 139,361,305 (GRCm39) probably null Het
Ankrd27 A G 7: 35,327,871 (GRCm39) D742G possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Armh4 T C 14: 49,989,121 (GRCm39) D616G probably damaging Het
Arvcf A G 16: 18,220,319 (GRCm39) K568E possibly damaging Het
Atp8b3 G A 10: 80,364,631 (GRCm39) R521W probably damaging Het
Casp16 A G 17: 23,771,024 (GRCm39) I127T possibly damaging Het
Cd163 A G 6: 124,306,547 (GRCm39) probably benign Het
Cdh8 A T 8: 99,757,337 (GRCm39) S754T probably damaging Het
Cel A G 2: 28,446,789 (GRCm39) Y461H probably damaging Het
Chmp4b A G 2: 154,499,240 (GRCm39) I47V possibly damaging Het
Col1a1 A G 11: 94,839,218 (GRCm39) M989V unknown Het
Cpsf1 A T 15: 76,486,766 (GRCm39) S257T possibly damaging Het
Csmd1 A T 8: 17,266,708 (GRCm39) S73T possibly damaging Het
Csnk2a2 T C 8: 96,182,436 (GRCm39) probably null Het
Dact2 A T 17: 14,418,175 (GRCm39) W177R probably benign Het
Ddx10 A G 9: 53,071,253 (GRCm39) V680A probably benign Het
Eif5 T A 12: 111,508,651 (GRCm39) D215E probably benign Het
Evpl C T 11: 116,116,318 (GRCm39) A817T probably benign Het
Fmo6 T A 1: 162,753,821 (GRCm39) R131* probably null Het
Fsd2 T C 7: 81,184,857 (GRCm39) T680A probably benign Het
Fsip2 T C 2: 82,805,289 (GRCm39) V536A possibly damaging Het
Fzd8 T C 18: 9,214,364 (GRCm39) F482S probably damaging Het
Gabrb1 A T 5: 72,265,694 (GRCm39) probably null Het
Galnt9 T G 5: 110,744,078 (GRCm39) I304S probably benign Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm5334 A C 7: 68,268,725 (GRCm39) noncoding transcript Het
Grcc10 A T 6: 124,717,476 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,734,937 (GRCm39) T192A probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Irgm2 T A 11: 58,111,461 (GRCm39) L396Q probably damaging Het
Ksr2 T A 5: 117,809,514 (GRCm39) C426S probably damaging Het
Lair1 A G 7: 4,013,788 (GRCm39) F153S probably damaging Het
Lrp1 T C 10: 127,392,138 (GRCm39) H2835R possibly damaging Het
Lrp1 T C 10: 127,399,534 (GRCm39) T2325A probably damaging Het
Lrrd1 T C 5: 3,900,580 (GRCm39) F295S probably damaging Het
Meis1 T A 11: 18,960,608 (GRCm39) probably benign Het
Mkln1 T A 6: 31,484,579 (GRCm39) I156K probably benign Het
Mmd2 T C 5: 142,561,105 (GRCm39) probably benign Het
Morc1 A G 16: 48,272,840 (GRCm39) I156V probably benign Het
Muc4 A G 16: 32,753,405 (GRCm38) T1094A possibly damaging Het
Nckap1 A G 2: 80,343,014 (GRCm39) probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Or12e1 A T 2: 87,022,247 (GRCm39) N72I probably benign Het
Or2t49 T A 11: 58,392,885 (GRCm39) M166L probably benign Het
Or4e2 T C 14: 52,688,296 (GRCm39) V142A probably benign Het
Or5as1 A T 2: 86,980,150 (GRCm39) L285* probably null Het
Or8d1b C T 9: 38,887,706 (GRCm39) L245F probably damaging Het
Pcdha1 T C 18: 37,065,237 (GRCm39) S634P probably benign Het
Pcdhb12 T A 18: 37,569,841 (GRCm39) V329E probably damaging Het
Pcf11 A T 7: 92,312,793 (GRCm39) D193E probably benign Het
Pcsk1 G C 13: 75,258,947 (GRCm39) M240I probably damaging Het
Pdc T A 1: 150,208,892 (GRCm39) I125N probably damaging Het
Plch2 C T 4: 155,082,729 (GRCm39) G564S probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Riok1 T A 13: 38,236,926 (GRCm39) I389N probably damaging Het
Ror1 T A 4: 100,160,135 (GRCm39) S50R probably benign Het
Samd13 T C 3: 146,352,070 (GRCm39) T75A probably benign Het
Siglec1 G A 2: 130,915,876 (GRCm39) H1329Y possibly damaging Het
Siglec1 T C 2: 130,925,932 (GRCm39) N258S probably damaging Het
Slbp G A 5: 33,802,946 (GRCm39) A126V probably benign Het
Slc12a4 A T 8: 106,674,203 (GRCm39) probably null Het
Specc1 A G 11: 62,019,218 (GRCm39) I686V possibly damaging Het
Synpo2 C A 3: 122,906,203 (GRCm39) V1038F probably damaging Het
Tbk1 G A 10: 121,397,550 (GRCm39) T374I probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem190 T C 7: 4,787,132 (GRCm39) L112P probably damaging Het
Tsc2 C T 17: 24,816,042 (GRCm39) R1715Q probably damaging Het
Ulbp3 A T 10: 3,075,050 (GRCm39) noncoding transcript Het
Vmn1r46 T C 6: 89,953,811 (GRCm39) L220P probably damaging Het
Vwa3a A G 7: 120,392,609 (GRCm39) Q816R probably benign Het
Zfhx4 T C 3: 5,468,164 (GRCm39) I2799T probably benign Het
Zfp105 T C 9: 122,759,696 (GRCm39) S456P probably damaging Het
Other mutations in Arhgef7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Arhgef7 APN 8 11,832,540 (GRCm39) missense probably damaging 1.00
IGL01481:Arhgef7 APN 8 11,865,256 (GRCm39) missense probably benign 0.01
IGL02376:Arhgef7 APN 8 11,867,735 (GRCm39) missense probably damaging 1.00
IGL02812:Arhgef7 APN 8 11,831,245 (GRCm39) unclassified probably benign
IGL02813:Arhgef7 APN 8 11,850,767 (GRCm39) unclassified probably benign
IGL02864:Arhgef7 APN 8 11,865,247 (GRCm39) missense possibly damaging 0.49
Mental_fitness UTSW 8 11,850,811 (GRCm39) missense probably damaging 1.00
R0139:Arhgef7 UTSW 8 11,850,503 (GRCm39) missense probably damaging 0.99
R0157:Arhgef7 UTSW 8 11,835,812 (GRCm39) missense probably damaging 1.00
R0332:Arhgef7 UTSW 8 11,874,701 (GRCm39) nonsense probably null
R0448:Arhgef7 UTSW 8 11,869,659 (GRCm39) missense possibly damaging 0.78
R0973:Arhgef7 UTSW 8 11,869,659 (GRCm39) missense possibly damaging 0.78
R1491:Arhgef7 UTSW 8 11,869,733 (GRCm39) critical splice donor site probably null
R1566:Arhgef7 UTSW 8 11,832,620 (GRCm39) missense possibly damaging 0.85
R1601:Arhgef7 UTSW 8 11,832,638 (GRCm39) splice site probably null
R1716:Arhgef7 UTSW 8 11,858,713 (GRCm39) splice site probably null
R1717:Arhgef7 UTSW 8 11,858,713 (GRCm39) splice site probably null
R1719:Arhgef7 UTSW 8 11,858,713 (GRCm39) splice site probably null
R1901:Arhgef7 UTSW 8 11,858,713 (GRCm39) splice site probably null
R1902:Arhgef7 UTSW 8 11,858,713 (GRCm39) splice site probably null
R1933:Arhgef7 UTSW 8 11,858,713 (GRCm39) splice site probably null
R1934:Arhgef7 UTSW 8 11,858,713 (GRCm39) splice site probably null
R1956:Arhgef7 UTSW 8 11,855,266 (GRCm39) missense probably damaging 1.00
R2122:Arhgef7 UTSW 8 11,778,256 (GRCm39) missense possibly damaging 0.94
R2273:Arhgef7 UTSW 8 11,865,010 (GRCm39) missense possibly damaging 0.94
R2275:Arhgef7 UTSW 8 11,865,010 (GRCm39) missense possibly damaging 0.94
R2306:Arhgef7 UTSW 8 11,862,680 (GRCm39) nonsense probably null
R2375:Arhgef7 UTSW 8 11,864,995 (GRCm39) missense probably benign 0.08
R4530:Arhgef7 UTSW 8 11,850,802 (GRCm39) missense possibly damaging 0.60
R4805:Arhgef7 UTSW 8 11,881,552 (GRCm39) missense probably damaging 1.00
R5204:Arhgef7 UTSW 8 11,850,775 (GRCm39) nonsense probably null
R5212:Arhgef7 UTSW 8 11,778,388 (GRCm39) missense probably benign 0.40
R5256:Arhgef7 UTSW 8 11,850,811 (GRCm39) missense probably damaging 1.00
R5718:Arhgef7 UTSW 8 11,835,774 (GRCm39) missense probably damaging 1.00
R6195:Arhgef7 UTSW 8 11,872,017 (GRCm39) missense probably damaging 1.00
R6503:Arhgef7 UTSW 8 11,883,054 (GRCm39) missense possibly damaging 0.58
R6679:Arhgef7 UTSW 8 11,874,667 (GRCm39) missense possibly damaging 0.79
R7337:Arhgef7 UTSW 8 11,835,789 (GRCm39) missense probably damaging 1.00
R7422:Arhgef7 UTSW 8 11,850,861 (GRCm39) missense probably benign 0.01
R7684:Arhgef7 UTSW 8 11,869,663 (GRCm39) missense probably benign 0.38
R7793:Arhgef7 UTSW 8 11,874,507 (GRCm39) missense possibly damaging 0.73
R8762:Arhgef7 UTSW 8 11,831,216 (GRCm39) missense probably benign 0.08
R8955:Arhgef7 UTSW 8 11,808,451 (GRCm39) start gained probably benign
R9022:Arhgef7 UTSW 8 11,850,469 (GRCm39) missense probably benign 0.00
R9095:Arhgef7 UTSW 8 11,835,819 (GRCm39) missense probably damaging 1.00
R9425:Arhgef7 UTSW 8 11,867,736 (GRCm39) missense probably damaging 0.99
R9432:Arhgef7 UTSW 8 11,869,646 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGGACAGCTTATTGCAGCTCTTACC -3'
(R):5'- GCCTGACATTAAGGATGGCTCAGAC -3'

Sequencing Primer
(F):5'- TCTAAAGGTCTCCGTGAAGC -3'
(R):5'- TGGCTCAGACCAGGGAG -3'
Posted On 2014-05-14