Incidental Mutation 'R0973:Arhgef7'
ID 236734
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 039102-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0973 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 11778053-11885219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11869659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 432 (T432A)
Ref Sequence ENSEMBL: ENSMUSP00000106529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074856] [ENSMUST00000098938] [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 possibly damaging
Transcript: ENSMUST00000074856
AA Change: T501A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074399
Gene: ENSMUSG00000031511
AA Change: T501A

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 possibly damaging
Transcript: ENSMUST00000098938
AA Change: T501A

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096538
Gene: ENSMUSG00000031511
AA Change: T501A

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 possibly damaging
Transcript: ENSMUST00000110904
AA Change: T432A

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106529
Gene: ENSMUSG00000031511
AA Change: T432A

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
AA Change: T658A

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106534
Gene: ENSMUSG00000031511
AA Change: T658A

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
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 93% (38/41)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930503L19Rik T A 18: 70,600,997 (GRCm39) probably null Het
Adam18 T C 8: 25,137,869 (GRCm39) T324A probably benign Het
Adamts20 T A 15: 94,184,252 (GRCm39) Q1517L probably benign Het
AI429214 A G 8: 37,461,473 (GRCm39) Q207R probably benign Het
Atad2b A G 12: 5,081,784 (GRCm39) N1231S probably benign Het
Atp13a1 T C 8: 70,254,794 (GRCm39) probably null Het
Atp6v0a1 T A 11: 100,946,317 (GRCm39) L770* probably null Het
Atp8b3 T C 10: 80,370,032 (GRCm39) N127S probably damaging Het
B3gnt5 T A 16: 19,588,760 (GRCm39) D326E probably damaging Het
Birc6 T A 17: 74,872,856 (GRCm39) S372T probably damaging Het
Btbd9 T A 17: 30,518,607 (GRCm39) D451V probably damaging Het
Cd46 T C 1: 194,724,300 (GRCm39) *366W probably null Het
Cdcp3 T C 7: 130,839,911 (GRCm39) L611P probably damaging Het
Cdh18 T A 15: 23,474,081 (GRCm39) D650E probably damaging Het
Cenpc1 A T 5: 86,185,767 (GRCm39) V248E probably damaging Het
Cep152 A G 2: 125,436,819 (GRCm39) S574P probably benign Het
Chd2 A G 7: 73,128,412 (GRCm39) S858P probably damaging Het
Cib4 T C 5: 30,645,938 (GRCm39) D110G probably damaging Het
Col9a2 T A 4: 120,896,985 (GRCm39) probably null Het
Csmd2 A T 4: 128,389,981 (GRCm39) I2239F possibly damaging Het
Csmd3 C A 15: 47,522,485 (GRCm39) G2728V probably damaging Het
Cxcl1 A T 5: 91,039,626 (GRCm39) K85* probably null Het
Cyp2d11 A G 15: 82,273,730 (GRCm39) L416P possibly damaging Het
Daam1 A C 12: 71,962,558 (GRCm39) K90T unknown Het
Depdc5 T A 5: 33,144,310 (GRCm39) M1435K possibly damaging Het
Dip2c G A 13: 9,626,944 (GRCm39) A632T probably damaging Het
Dld A T 12: 31,384,053 (GRCm39) I350N probably damaging Het
Dmtf1 T A 5: 9,177,987 (GRCm39) I391F possibly damaging Het
Dnah14 T C 1: 181,579,710 (GRCm39) V3081A probably damaging Het
Efemp1 A G 11: 28,804,538 (GRCm39) E22G probably damaging Het
Ephb6 A G 6: 41,591,038 (GRCm39) D65G probably damaging Het
Fsip2 A T 2: 82,807,436 (GRCm39) T1252S probably benign Het
Gm4847 A G 1: 166,457,824 (GRCm39) S510P probably benign Het
Golga4 T C 9: 118,366,341 (GRCm39) I365T probably damaging Het
Gp2 A T 7: 119,053,766 (GRCm39) L65Q probably damaging Het
Ibtk T C 9: 85,625,630 (GRCm39) Y40C probably damaging Het
Ice1 C A 13: 70,750,546 (GRCm39) V1847L probably benign Het
Ift172 C T 5: 31,422,699 (GRCm39) R917H probably benign Het
Itgae C T 11: 73,029,335 (GRCm39) Q1037* probably null Het
Kbtbd7 A G 14: 79,664,870 (GRCm39) E234G possibly damaging Het
Khsrp T C 17: 57,332,576 (GRCm39) T235A probably benign Het
Klk13 T C 7: 43,370,582 (GRCm39) probably null Het
Lrfn5 G A 12: 61,890,223 (GRCm39) G504D probably damaging Het
Macf1 A G 4: 123,369,793 (GRCm39) V91A possibly damaging Het
Map6 G A 7: 98,985,950 (GRCm39) G821D possibly damaging Het
Mark1 A C 1: 184,653,801 (GRCm39) V167G probably damaging Het
Mrgprf T A 7: 144,861,993 (GRCm39) L185Q probably damaging Het
Mtor T A 4: 148,634,645 (GRCm39) V2422D probably damaging Het
Myh13 T A 11: 67,223,346 (GRCm39) I222N probably damaging Het
Myh7b G A 2: 155,462,347 (GRCm39) C350Y probably benign Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Olfm3 C A 3: 114,895,635 (GRCm39) S172R probably benign Het
Or13e8 A G 4: 43,696,706 (GRCm39) S156P probably damaging Het
Or1j14 A G 2: 36,418,020 (GRCm39) I199V probably benign Het
Or4c1 A T 2: 89,133,528 (GRCm39) I136N probably damaging Het
Or5d40 A T 2: 88,015,322 (GRCm39) T34S probably benign Het
Or8b48 T A 9: 38,492,579 (GRCm39) V2D possibly damaging Het
Pacs1 A T 19: 5,193,857 (GRCm39) D557E probably damaging Het
Pde1c A G 6: 56,338,800 (GRCm39) F11L probably benign Het
Phactr2 T C 10: 13,122,883 (GRCm39) D343G possibly damaging Het
Piezo2 T C 18: 63,148,873 (GRCm39) Y2659C probably damaging Het
Pkd2l2 A G 18: 34,561,305 (GRCm39) T438A probably damaging Het
Pld2 T C 11: 70,447,907 (GRCm39) W857R probably damaging Het
Plxnb1 T C 9: 108,931,210 (GRCm39) V410A possibly damaging Het
Pramel26 T C 4: 143,538,428 (GRCm39) Y181C probably damaging Het
Ptger2 A G 14: 45,226,957 (GRCm39) Y179C probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rcan1 A T 16: 92,190,408 (GRCm39) M177K probably benign Het
Rilpl1 A G 5: 124,639,934 (GRCm39) S156P probably benign Het
Rilpl1 A G 5: 124,639,951 (GRCm39) I122T possibly damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rpa1 C T 11: 75,203,799 (GRCm39) probably null Het
Saxo2 A G 7: 82,284,078 (GRCm39) V260A probably benign Het
Sel1l T C 12: 91,791,634 (GRCm39) Y309C probably damaging Het
Setd1b GCCCCCCC GCCCCCCCCCCCCC 5: 123,298,766 (GRCm39) probably benign Het
Slc33a1 A G 3: 63,850,725 (GRCm39) F533S probably benign Het
Slc38a4 C T 15: 96,903,739 (GRCm39) V421M probably benign Het
Snx14 A G 9: 88,282,774 (GRCm39) probably null Het
Spef2 A G 15: 9,716,482 (GRCm39) F368S probably damaging Het
Sri A T 5: 8,109,381 (GRCm39) Q55L probably damaging Het
Stat4 A G 1: 52,135,979 (GRCm39) I429M probably damaging Het
Stkld1 A T 2: 26,841,462 (GRCm39) Q469L probably benign Het
Tm9sf1 T C 14: 55,880,392 (GRCm39) T2A possibly damaging Het
Tmco5 A G 2: 116,713,699 (GRCm39) T122A probably benign Het
Tmem59l G A 8: 70,938,710 (GRCm39) P124S possibly damaging Het
Tmem81 G A 1: 132,435,662 (GRCm39) R156Q probably damaging Het
Trpv6 T A 6: 41,602,122 (GRCm39) T396S probably benign Het
Usp24 T A 4: 106,228,276 (GRCm39) Y780* probably null Het
Utp25 A T 1: 192,797,011 (GRCm39) N573K probably damaging Het
Vmn1r120 A G 7: 20,786,941 (GRCm39) C257R probably damaging Het
Vmn2r53 A G 7: 12,335,319 (GRCm39) F114L probably damaging Het
Vwf A G 6: 125,619,969 (GRCm39) E1549G probably damaging Het
Zfp626 G A 7: 27,517,907 (GRCm39) R296H 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
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
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'- AACGTCCTCTTGGCTCTTGG -3'
(R):5'- TCAAATTATAGATCTGCTGGGTGG -3'

Sequencing Primer
(F):5'- GCTCTTGGCCTGTGTTTATG -3'
(R):5'- CAGCCGATGCAGAGACTG -3'
Posted On 2014-10-02