Incidental Mutation 'R1566:Arhgef7'
ID 175273
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 039605-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1566 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 11778053-11885219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11832620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 32 (T32A)
Ref Sequence ENSEMBL: ENSMUSP00000148111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074856] [ENSMUST00000098938] [ENSMUST00000110904] [ENSMUST00000110909] [ENSMUST00000211409] [ENSMUST00000210012] [ENSMUST00000210104]
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
AA Change: T145A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000106534
Gene: ENSMUSG00000031511
AA Change: T145A

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: ENSMUST00000209686
Predicted Effect possibly damaging
Transcript: ENSMUST00000211409
AA Change: T32A

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000210012
Predicted Effect probably benign
Transcript: ENSMUST00000210104
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,679,632 (GRCm39) I247F probably benign Het
Afap1l1 T C 18: 61,888,714 (GRCm39) N119S probably benign Het
Ap2a1 T C 7: 44,552,904 (GRCm39) D721G probably benign Het
Ap3m2 C T 8: 23,293,967 (GRCm39) V28M probably damaging Het
Avl9 C T 6: 56,713,467 (GRCm39) R242* probably null Het
Bsn G A 9: 108,003,184 (GRCm39) T407I probably benign Het
Capn3 A T 2: 120,333,474 (GRCm39) R627S possibly damaging Het
Car13 G A 3: 14,715,758 (GRCm39) R92Q probably benign Het
Clcn1 T C 6: 42,268,374 (GRCm39) I149T possibly damaging Het
Col1a2 G T 6: 4,523,613 (GRCm39) G514V probably damaging Het
Ctsw C A 19: 5,515,445 (GRCm39) C347F probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Eif1ad8 A T 12: 87,564,001 (GRCm39) H112L probably benign Het
Eml1 T A 12: 108,438,151 (GRCm39) V97D probably damaging Het
Epb41l1 A G 2: 156,363,879 (GRCm39) E796G probably benign Het
Gdnf A G 15: 7,863,895 (GRCm39) K102R probably benign Het
Gm1110 T C 9: 26,792,166 (GRCm39) E618G probably damaging Het
Gmnc T C 16: 26,782,689 (GRCm39) D22G probably damaging Het
Greb1 T C 12: 16,761,829 (GRCm39) D517G possibly damaging Het
Gsta1 A T 9: 78,149,741 (GRCm39) K185* probably null Het
Ift88 A G 14: 57,678,468 (GRCm39) D160G probably benign Het
Intu T A 3: 40,647,008 (GRCm39) I627N probably damaging Het
Itgav T A 2: 83,566,974 (GRCm39) F101L probably damaging Het
Kars1 C T 8: 112,724,290 (GRCm39) V475I probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Klra7 A G 6: 130,208,564 (GRCm39) V6A probably damaging Het
Krtap6-2 A G 16: 89,216,626 (GRCm39) S114P unknown Het
Ldlrad4 T C 18: 68,383,669 (GRCm39) S122P probably benign Het
Lig4 C A 8: 10,023,650 (GRCm39) L43F probably benign Het
Mfsd4a T C 1: 131,986,917 (GRCm39) D137G probably damaging Het
Mmel1 C T 4: 154,968,110 (GRCm39) R149C probably damaging Het
Morc2b T A 17: 33,355,948 (GRCm39) H608L probably benign Het
Mrgpra6 G A 7: 46,838,652 (GRCm39) T182I probably benign Het
Nat8l C A 5: 34,158,200 (GRCm39) N203K probably benign Het
Nin A T 12: 70,101,253 (GRCm39) V448E probably damaging Het
Or10a4 T G 7: 106,696,759 (GRCm39) F29C probably damaging Het
Or2m12 T A 16: 19,105,077 (GRCm39) M139L possibly damaging Het
Or5k15 T A 16: 58,709,903 (GRCm39) I227F probably damaging Het
Or8k21 G A 2: 86,145,129 (GRCm39) T167I probably benign Het
Pank4 T C 4: 155,064,978 (GRCm39) L759P probably damaging Het
Pcm1 T A 8: 41,743,810 (GRCm39) N1152K probably damaging Het
Pitpnm3 A T 11: 71,949,785 (GRCm39) probably null Het
Plekhg3 T C 12: 76,618,839 (GRCm39) M497T possibly damaging Het
Ppfia3 T C 7: 44,990,112 (GRCm39) D1138G probably damaging Het
Prl6a1 T A 13: 27,499,410 (GRCm39) S59R possibly damaging Het
Pth2r A G 1: 65,427,697 (GRCm39) S457G possibly damaging Het
Rbm25 T A 12: 83,721,828 (GRCm39) N671K probably damaging Het
Rbm26 T A 14: 105,397,980 (GRCm39) K47N unknown Het
Ryr1 T A 7: 28,791,600 (GRCm39) I1435F possibly damaging Het
Scin T A 12: 40,131,673 (GRCm39) H287L probably benign Het
Serpinb9e T C 13: 33,437,477 (GRCm39) L120P probably damaging Het
Slc34a1 A C 13: 55,559,844 (GRCm39) probably null Het
Slc39a10 A G 1: 46,875,245 (GRCm39) F19S possibly damaging Het
Sos1 A G 17: 80,761,345 (GRCm39) V117A probably damaging Het
Spta1 C A 1: 174,012,272 (GRCm39) N359K probably benign Het
Sspo G A 6: 48,443,804 (GRCm39) probably null Het
Stx5a T A 19: 8,719,675 (GRCm39) D13E probably damaging Het
Supt16 G A 14: 52,414,112 (GRCm39) A489V probably damaging Het
Tap1 T A 17: 34,408,520 (GRCm39) L253Q probably benign Het
Tmc6 A G 11: 117,660,262 (GRCm39) S659P probably damaging Het
Tnfsf14 T C 17: 57,500,876 (GRCm39) D65G probably benign Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ugt8a T C 3: 125,669,207 (GRCm39) Y299C probably damaging Het
Upk1a A G 7: 30,309,145 (GRCm39) V59A possibly damaging Het
Usp38 T C 8: 81,711,432 (GRCm39) T868A probably benign Het
Wdsub1 G A 2: 59,707,059 (GRCm39) H58Y probably damaging Het
Zc3h7b T C 15: 81,653,035 (GRCm39) S19P possibly damaging Het
Zfp385b A C 2: 77,246,257 (GRCm39) F257V probably benign Het
Zmym4 A C 4: 126,804,940 (GRCm39) I188S possibly 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
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'- ATGACCGCGTCATTTACGGAGCAG -3'
(R):5'- GGAGTCCAGTGAAAAGCACATGCC -3'

Sequencing Primer
(F):5'- ACACTGGCCCGGTTTTAGAC -3'
(R):5'- TGAAAAGCACATGCCACCAC -3'
Posted On 2014-04-24