Incidental Mutation 'R1933:Arhgef7'
ID 215574
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 039951-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1933 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 11778053-11885219 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 11858713 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] [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 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 probably benign
Transcript: ENSMUST00000210012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211510
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,207,922 (GRCm39) Y396F probably benign Het
Adra2a T A 19: 54,034,837 (GRCm39) F64L probably damaging Het
Ankrd45 A T 1: 160,978,870 (GRCm39) N103I probably damaging Het
Bsn A G 9: 107,993,643 (GRCm39) V703A possibly damaging Het
Btaf1 T A 19: 36,950,357 (GRCm39) I529K probably damaging Het
Ccdc110 A G 8: 46,396,287 (GRCm39) N726S probably damaging Het
Ccdc78 T A 17: 26,006,044 (GRCm39) S71T probably damaging Het
Cct5 G T 15: 31,591,154 (GRCm39) Q516K probably benign Het
Cd300c2 A T 11: 114,891,685 (GRCm39) V63E probably benign Het
Cdh16 A G 8: 105,344,595 (GRCm39) V7A possibly damaging Het
Clec16a T C 16: 10,506,403 (GRCm39) F710L probably damaging Het
Clpb T G 7: 101,428,418 (GRCm39) F393V probably damaging Het
Commd9 G A 2: 101,731,376 (GRCm39) R187H probably damaging Het
Crx T A 7: 15,602,301 (GRCm39) K126* probably null Het
Dcaf13 T A 15: 39,001,483 (GRCm39) Y264N probably damaging Het
Dnah12 T A 14: 26,455,650 (GRCm39) I791N probably damaging Het
Dpy19l1 A T 9: 24,345,683 (GRCm39) D456E probably damaging Het
Dscam A G 16: 96,394,414 (GRCm39) S1963P probably benign Het
Efl1 C T 7: 82,412,325 (GRCm39) Q905* probably null Het
Farsa T C 8: 85,587,780 (GRCm39) F104L probably benign Het
Fbxl19 C A 7: 127,350,101 (GRCm39) A231E probably benign Het
Fbxw19 A T 9: 109,310,718 (GRCm39) N401K probably benign Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Frem3 A G 8: 81,339,519 (GRCm39) N604S probably benign Het
Gad1 T G 2: 70,417,736 (GRCm39) C312G possibly damaging Het
Garem2 G T 5: 30,319,860 (GRCm39) E441* probably null Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm8206 A T 14: 6,022,475 (GRCm38) M8K probably benign Het
Gpr162 G A 6: 124,838,410 (GRCm39) S80F probably damaging Het
Grpr C A X: 162,332,137 (GRCm39) V53L probably benign Het
Il21 C T 3: 37,286,635 (GRCm39) R27H probably benign Het
Il21r C T 7: 125,228,153 (GRCm39) T208I possibly damaging Het
Kcnab2 T C 4: 152,520,323 (GRCm39) T6A possibly damaging Het
Klra4 T A 6: 130,042,207 (GRCm39) Q20L possibly damaging Het
Lrrtm1 A T 6: 77,221,949 (GRCm39) probably null Het
Lrrtm3 A G 10: 63,924,292 (GRCm39) F292L possibly damaging Het
Mpeg1 A T 19: 12,440,011 (GRCm39) K490* probably null Het
Myh14 C T 7: 44,264,772 (GRCm39) M1671I probably benign Het
Nebl A T 2: 17,380,103 (GRCm39) M757K probably damaging Het
Or51m1 G T 7: 103,578,337 (GRCm39) M102I probably damaging Het
Or56b1b A C 7: 108,164,730 (GRCm39) F91V possibly damaging Het
Or5aq1 T A 2: 86,966,188 (GRCm39) H159L probably damaging Het
Pkhd1l1 A T 15: 44,404,280 (GRCm39) H2303L possibly damaging Het
Podxl2 C T 6: 88,826,587 (GRCm39) V240M probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prss53 T C 7: 127,485,434 (GRCm39) *553W probably null Het
Psma3 T A 12: 71,031,468 (GRCm39) M43K probably benign Het
Rad50 G T 11: 53,570,888 (GRCm39) T790K probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Rpn1 T A 6: 88,070,841 (GRCm39) V237E probably damaging Het
Scn10a T A 9: 119,439,064 (GRCm39) M1601L probably damaging Het
Sema4f G T 6: 82,907,908 (GRCm39) P180Q probably damaging Het
Serpinb5 A G 1: 106,803,851 (GRCm39) E8G probably damaging Het
Sgcg C T 14: 61,469,861 (GRCm39) V167I possibly damaging Het
Slc25a13 C T 6: 6,109,262 (GRCm39) V367M probably damaging Het
Spata31 T C 13: 65,068,424 (GRCm39) S191P probably benign Het
Srbd1 A G 17: 86,410,321 (GRCm39) V537A probably damaging Het
Srgap1 G T 10: 121,761,808 (GRCm39) D113E possibly damaging Het
Srl A G 16: 4,310,214 (GRCm39) I505T probably damaging Het
St14 G A 9: 31,017,508 (GRCm39) T226I probably benign Het
Stard9 T A 2: 120,529,137 (GRCm39) I1798N possibly damaging Het
Sugp1 A G 8: 70,509,225 (GRCm39) E166G possibly damaging Het
Susd1 A T 4: 59,351,695 (GRCm39) N455K possibly damaging Het
Sytl3 T A 17: 7,000,445 (GRCm39) V205E probably damaging Het
Tenm4 A G 7: 96,544,533 (GRCm39) Y2183C probably damaging Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tlcd3b T A 7: 126,426,844 (GRCm39) probably null Het
Tlr1 T G 5: 65,082,781 (GRCm39) T599P possibly damaging Het
Trpc6 G A 9: 8,656,546 (GRCm39) D658N probably damaging Het
Ttc39b A G 4: 83,150,957 (GRCm39) V546A possibly damaging Het
Ube3c T C 5: 29,824,657 (GRCm39) Y561H probably damaging Het
Vmn1r29 T A 6: 58,284,405 (GRCm39) S42T probably benign Het
Vps4a T C 8: 107,771,190 (GRCm39) V392A probably benign Het
Wdfy4 T C 14: 32,855,301 (GRCm39) E771G probably benign Het
Whrn G A 4: 63,333,876 (GRCm39) Q415* probably null Het
Wnt5a C T 14: 28,233,802 (GRCm39) P10L probably benign Het
Zfhx2 T C 14: 55,312,695 (GRCm39) probably benign Het
Zfp451 T C 1: 33,816,903 (GRCm39) K132R 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
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
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'- GGTAAAGATGTGCCTTGCAGG -3'
(R):5'- AGGGTGGTTTCATGGACACAAG -3'

Sequencing Primer
(F):5'- AGGGAGACTGATACTGGATACTTTTC -3'
(R):5'- GCCTGACATTAAGGATGGCTC -3'
Posted On 2014-07-14