Incidental Mutation 'R1491:Arhgef7'
ID 163742
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 039543-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1491 (G1)
Quality Score 205
Status Not validated
Chromosome 8
Chromosomal Location 11778053-11885219 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 11869733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074856] [ENSMUST00000074856] [ENSMUST00000098938] [ENSMUST00000098938] [ENSMUST00000110904] [ENSMUST00000110904] [ENSMUST00000110909]
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 noncoding transcript
Transcript: ENSMUST00000211510
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.2%
Validation Efficiency
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik T A 12: 112,381,489 (GRCm39) noncoding transcript Het
Acss3 A G 10: 106,773,169 (GRCm39) S606P probably benign Het
Adamts13 C T 2: 26,868,327 (GRCm39) T146M probably damaging Het
Adora2b G A 11: 62,156,363 (GRCm39) V271M probably benign Het
Agpat5 A G 8: 18,896,739 (GRCm39) Y55C probably damaging Het
AI987944 A C 7: 41,023,772 (GRCm39) Y402* probably null Het
Angptl4 C T 17: 34,000,165 (GRCm39) A68T possibly damaging Het
Ankmy1 T C 1: 92,814,531 (GRCm39) I325M probably benign Het
Arfgap2 A G 2: 91,105,204 (GRCm39) K423E probably damaging Het
Arfgef3 A T 10: 18,522,302 (GRCm39) S575T probably damaging Het
Arhgap24 A G 5: 103,008,198 (GRCm39) I40V possibly damaging Het
Arid1a C A 4: 133,448,237 (GRCm39) S477I unknown Het
Armc7 T C 11: 115,367,029 (GRCm39) V58A probably damaging Het
Arrdc5 A T 17: 56,601,222 (GRCm39) I301N probably damaging Het
Capn15 G A 17: 26,183,453 (GRCm39) P343S probably damaging Het
Catspere2 C T 1: 177,843,495 (GRCm39) T69I possibly damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cgn C T 3: 94,670,535 (GRCm39) R1002Q probably damaging Het
Clstn3 A T 6: 124,414,449 (GRCm39) I759N possibly damaging Het
Cops5 A G 1: 10,104,243 (GRCm39) V166A possibly damaging Het
Cramp1 G T 17: 25,191,323 (GRCm39) T1046K probably benign Het
Cthrc1 T G 15: 38,950,072 (GRCm39) V143G probably damaging Het
Cul9 G A 17: 46,849,490 (GRCm39) Q552* probably null Het
Cyp27b1 A T 10: 126,886,957 (GRCm39) D391V probably damaging Het
Dcun1d2 A G 8: 13,331,040 (GRCm39) L30S probably damaging Het
Dsc3 T C 18: 20,120,091 (GRCm39) E189G probably damaging Het
Dst T G 1: 34,193,675 (GRCm39) S295A probably damaging Het
Dusp22 A G 13: 30,892,798 (GRCm39) T192A probably benign Het
Esp24 A T 17: 39,349,176 (GRCm39) M1L probably null Het
Evc2 G A 5: 37,550,541 (GRCm39) probably null Het
Fgd6 A G 10: 93,880,694 (GRCm39) N516S probably benign Het
Fmn1 T C 2: 113,426,714 (GRCm39) Y1144H probably damaging Het
Fut8 T A 12: 77,495,448 (GRCm39) I346K possibly damaging Het
Gata3 A C 2: 9,882,201 (GRCm39) V32G probably damaging Het
Glrb A T 3: 80,819,282 (GRCm39) C39S possibly damaging Het
Gpr171 A G 3: 59,005,016 (GRCm39) V253A probably benign Het
Hdac5 A G 11: 102,092,079 (GRCm39) V670A probably benign Het
Hmgxb3 T C 18: 61,266,980 (GRCm39) S1085G probably benign Het
Hspa4l A G 3: 40,741,226 (GRCm39) N746S probably benign Het
Hyal5 A G 6: 24,877,902 (GRCm39) T333A probably benign Het
Ippk T C 13: 49,615,069 (GRCm39) V484A probably benign Het
Jmjd8 A T 17: 26,048,266 (GRCm39) T33S possibly damaging Het
Kctd19 T A 8: 106,113,694 (GRCm39) I660L possibly damaging Het
Lrat A G 3: 82,810,649 (GRCm39) V124A probably benign Het
Madcam1 A G 10: 79,502,358 (GRCm39) I281V probably benign Het
Mast2 T A 4: 116,173,688 (GRCm39) I455F possibly damaging Het
Mroh7 A G 4: 106,560,255 (GRCm39) L683P probably benign Het
Myo15b C A 11: 115,777,683 (GRCm39) probably null Het
Ncam1 T C 9: 49,416,849 (GRCm39) E814G probably benign Het
Ncoa3 A G 2: 165,897,182 (GRCm39) T658A probably benign Het
Or13a20 T G 7: 140,232,650 (GRCm39) Y253D probably damaging Het
Or9a2 T C 6: 41,748,456 (GRCm39) Y259C possibly damaging Het
P2ry13 T C 3: 59,116,939 (GRCm39) K280E probably damaging Het
Paqr8 C A 1: 21,005,048 (GRCm39) F67L probably benign Het
Pfkfb3 G T 2: 11,498,747 (GRCm39) R37S probably damaging Het
Phf14 A G 6: 11,941,478 (GRCm39) D310G possibly damaging Het
Phkb A G 8: 86,602,286 (GRCm39) S26G possibly damaging Het
Pkd1l2 T A 8: 117,755,147 (GRCm39) I1684F probably damaging Het
Plod2 T C 9: 92,488,637 (GRCm39) V621A probably benign Het
Plvap T C 8: 71,964,116 (GRCm39) N82S probably damaging Het
Pomgnt2 A G 9: 121,811,326 (GRCm39) V485A probably damaging Het
Psmd9 A G 5: 123,366,410 (GRCm39) E14G probably benign Het
Pwwp2b A G 7: 138,835,879 (GRCm39) E440G probably damaging Het
Rasgrp1 G A 2: 117,113,100 (GRCm39) Q771* probably null Het
Rft1 C T 14: 30,388,744 (GRCm39) Q223* probably null Het
Rgs22 C A 15: 36,093,047 (GRCm39) V409F probably damaging Het
Rgsl1 G A 1: 153,701,672 (GRCm39) P261S possibly damaging Het
Rpl7a A G 2: 26,801,127 (GRCm39) N38S probably damaging Het
Sh3rf2 T A 18: 42,187,004 (GRCm39) F41Y probably damaging Het
Spata6 T A 4: 111,603,388 (GRCm39) S34R probably damaging Het
Sult2a3 A T 7: 13,856,867 (GRCm39) Y18N probably benign Het
Tapt1 A G 5: 44,375,444 (GRCm39) probably null Het
Tex2 A T 11: 106,394,466 (GRCm39) C615S possibly damaging Het
Trim43b T C 9: 88,969,665 (GRCm39) K261R possibly damaging Het
Unc5c T A 3: 141,495,583 (GRCm39) M484K probably damaging Het
Vezf1 T A 11: 87,964,573 (GRCm39) S242T probably damaging Het
Vmn2r1 A G 3: 63,997,034 (GRCm39) Y230C probably damaging Het
Vmn2r94 A G 17: 18,477,965 (GRCm39) S149P probably damaging Het
Wfdc1 T A 8: 120,393,405 (GRCm39) probably null Het
Zfp975 T C 7: 42,312,236 (GRCm39) T126A probably benign Het
Zmym4 T C 4: 126,776,105 (GRCm39) probably null 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
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
R1717:Arhgef7 UTSW 8 11,858,712 (GRCm39) unclassified probably benign
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'- ACGCCTTACTGCCATGTACACTG -3'
(R):5'- GCCCTGTGTGAATGAGAGGAATCTG -3'

Sequencing Primer
(F):5'- AAGATGGAACGTCCTCTTGGC -3'
(R):5'- TCTGCTGGGTGGAGGAAAG -3'
Posted On 2014-03-28