Incidental Mutation 'R7707:Arhgef1'
ID 594343
Institutional Source Beutler Lab
Gene Symbol Arhgef1
Ensembl Gene ENSMUSG00000040940
Gene Name Rho guanine nucleotide exchange factor 1
Synonyms Lbcl2, Lsc
MMRRC Submission 067893-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.389) question?
Stock # R7707 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 24602337-24626019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 24616306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 317 (D317N)
Ref Sequence ENSEMBL: ENSMUSP00000096280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047873] [ENSMUST00000098683] [ENSMUST00000117419] [ENSMUST00000117796] [ENSMUST00000132751] [ENSMUST00000151121] [ENSMUST00000205295] [ENSMUST00000206011] [ENSMUST00000206508] [ENSMUST00000206906]
AlphaFold Q61210
Predicted Effect possibly damaging
Transcript: ENSMUST00000047873
AA Change: D318N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940
AA Change: D318N

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Pfam:RGS-like 40 230 1.3e-72 PFAM
low complexity region 380 400 N/A INTRINSIC
RhoGEF 419 603 1.87e-63 SMART
PH 647 761 4.68e-5 SMART
low complexity region 845 864 N/A INTRINSIC
coiled coil region 867 890 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098683
AA Change: D317N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940
AA Change: D317N

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Pfam:RGS-like 40 230 2.2e-78 PFAM
PDB:3ODW|B 238 384 2e-57 PDB
low complexity region 396 412 N/A INTRINSIC
low complexity region 439 459 N/A INTRINSIC
RhoGEF 478 662 1.87e-63 SMART
PH 706 820 4.68e-5 SMART
low complexity region 904 923 N/A INTRINSIC
coiled coil region 926 949 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000117419
AA Change: D318N

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940
AA Change: D318N

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Pfam:RGS-like 40 230 1.3e-72 PFAM
low complexity region 380 400 N/A INTRINSIC
RhoGEF 419 603 1.87e-63 SMART
PH 647 761 4.68e-5 SMART
low complexity region 845 864 N/A INTRINSIC
coiled coil region 867 890 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117796
AA Change: D318N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940
AA Change: D318N

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Pfam:RGS-like 40 230 7.3e-73 PFAM
low complexity region 393 409 N/A INTRINSIC
low complexity region 436 456 N/A INTRINSIC
RhoGEF 475 659 1.87e-63 SMART
PH 703 817 4.68e-5 SMART
low complexity region 901 920 N/A INTRINSIC
coiled coil region 923 946 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000132751
SMART Domains Protein: ENSMUSP00000117008
Gene: ENSMUSG00000040940

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 70 89 N/A INTRINSIC
low complexity region 97 113 N/A INTRINSIC
low complexity region 140 160 N/A INTRINSIC
RhoGEF 179 363 1.87e-63 SMART
PH 407 521 4.68e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151121
SMART Domains Protein: ENSMUSP00000114388
Gene: ENSMUSG00000040940

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
Pfam:RGS-like 40 101 5.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205295
Predicted Effect probably benign
Transcript: ENSMUST00000206011
Predicted Effect possibly damaging
Transcript: ENSMUST00000206508
AA Change: D317N

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000206906
Meta Mutation Damage Score 0.0674 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired humeral immunity, reduced numbers of marginal zone B (MZB) cells, decreased basal T cell proliferation, and reduced basal motility of lymphocytes but enhanced migration of MZB cells after serum activation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T A 5: 113,285,852 (GRCm39) M1L probably benign Het
Ap1s3 T C 1: 79,591,964 (GRCm39) K129E probably benign Het
Ap3b2 C T 7: 81,126,530 (GRCm39) V357I possibly damaging Het
Aplp1 A T 7: 30,142,523 (GRCm39) C140S probably damaging Het
Asb4 A G 6: 5,430,968 (GRCm39) H401R probably benign Het
Bpi A T 2: 158,103,093 (GRCm39) E79D probably benign Het
Cant1 C T 11: 118,301,724 (GRCm39) V198M possibly damaging Het
Casp9 C T 4: 141,532,778 (GRCm39) R225C probably benign Het
Ccdc88b C A 19: 6,834,837 (GRCm39) R82L probably benign Het
Cfap251 A T 5: 123,391,950 (GRCm39) E28V probably benign Het
Chrm4 A G 2: 91,757,699 (GRCm39) T36A probably benign Het
Cntln A T 4: 84,802,853 (GRCm39) D51V probably damaging Het
Commd8 A T 5: 72,320,081 (GRCm39) F120Y probably damaging Het
Cpne6 A C 14: 55,753,771 (GRCm39) T410P probably damaging Het
Ctnnb1 A T 9: 120,781,931 (GRCm39) I315F possibly damaging Het
Dnah9 A G 11: 66,009,784 (GRCm39) V701A probably damaging Het
Efcab9 A G 11: 32,472,851 (GRCm39) Y199H possibly damaging Het
Endou T A 15: 97,610,983 (GRCm39) probably null Het
Fhip1a A G 3: 85,583,560 (GRCm39) V412A probably benign Het
Foxc2 C T 8: 121,844,641 (GRCm39) P430S probably benign Het
Gas2l3 T A 10: 89,250,220 (GRCm39) K299N probably damaging Het
Gm10375 G A 14: 43,842,332 (GRCm39) Q133* probably null Het
Gorab T C 1: 163,220,009 (GRCm39) D211G probably damaging Het
Grin3b T A 10: 79,811,735 (GRCm39) S747T possibly damaging Het
Gucd1 C A 10: 75,347,120 (GRCm39) probably benign Het
Gucy2d T C 7: 98,100,876 (GRCm39) F400L possibly damaging Het
Hivep3 G A 4: 119,591,156 (GRCm39) V55M Het
Igsf3 A G 3: 101,367,238 (GRCm39) N1157S probably benign Het
Irak3 A T 10: 119,982,489 (GRCm39) D324E probably damaging Het
Jup G T 11: 100,273,878 (GRCm39) A221D possibly damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lgr4 A G 2: 109,827,936 (GRCm39) probably null Het
Lrrc34 T C 3: 30,679,041 (GRCm39) D352G probably benign Het
Metrn C A 17: 26,014,384 (GRCm39) A175S probably benign Het
Nr2c1 T A 10: 94,024,027 (GRCm39) S411T probably benign Het
Or4c11 A G 2: 88,695,153 (GRCm39) D68G possibly damaging Het
Or5h22 T A 16: 58,894,634 (GRCm39) I270F possibly damaging Het
Orc3 T A 4: 34,598,691 (GRCm39) K172* probably null Het
Oxnad1 A G 14: 31,823,965 (GRCm39) probably null Het
Pcdh7 A G 5: 57,877,672 (GRCm39) N409S probably damaging Het
Pcdha11 A T 18: 37,144,845 (GRCm39) N312I probably benign Het
Pds5a G T 5: 65,767,476 (GRCm39) P121Q unknown Het
Phc1 A G 6: 122,300,739 (GRCm39) I380T unknown Het
Phldb3 C A 7: 24,326,022 (GRCm39) H535N possibly damaging Het
Proser3 T C 7: 30,239,216 (GRCm39) Q600R probably benign Het
Ptprz1 A G 6: 23,002,295 (GRCm39) M1462V probably benign Het
Pyroxd2 T C 19: 42,726,586 (GRCm39) T243A probably damaging Het
Ralgapa1 C A 12: 55,824,077 (GRCm39) D268Y probably null Het
Rapgef5 A C 12: 117,679,079 (GRCm39) Y419S probably damaging Het
Rbm24 C A 13: 46,582,605 (GRCm39) Q175K possibly damaging Het
Robo4 A T 9: 37,324,418 (GRCm39) D982V probably damaging Het
Sbf2 T C 7: 109,929,920 (GRCm39) probably null Het
Serping1 A T 2: 84,604,043 (GRCm39) probably null Het
Shank1 C T 7: 43,993,725 (GRCm39) S798F unknown Het
Slc15a5 A T 6: 138,056,745 (GRCm39) M57K probably damaging Het
Slc35g1 T A 19: 38,391,571 (GRCm39) C284* probably null Het
Src G A 2: 157,306,578 (GRCm39) D194N probably damaging Het
Srfbp1 A G 18: 52,616,726 (GRCm39) T84A probably damaging Het
Sspo A T 6: 48,438,461 (GRCm39) T1510S probably benign Het
Taar1 A T 10: 23,797,135 (GRCm39) I278F possibly damaging Het
Taf1a T C 1: 183,185,583 (GRCm39) Y281H possibly damaging Het
Thbs3 A T 3: 89,132,207 (GRCm39) Y798F possibly damaging Het
Tnpo1 T C 13: 99,027,295 (GRCm39) T7A probably benign Het
Traf7 A T 17: 24,729,683 (GRCm39) probably null Het
Trbv19 G A 6: 41,155,547 (GRCm39) V9I possibly damaging Het
Trim17 C T 11: 58,856,110 (GRCm39) Q56* probably null Het
Ttn G T 2: 76,732,406 (GRCm39) A4643E unknown Het
Ugt2b36 A G 5: 87,229,367 (GRCm39) probably null Het
Uso1 A G 5: 92,349,795 (GRCm39) *960W probably null Het
Usp2 G T 9: 43,984,757 (GRCm39) probably null Het
Wdr20rt A G 12: 65,272,981 (GRCm39) D148G probably damaging Het
Wif1 T C 10: 120,919,864 (GRCm39) F204L probably damaging Het
Wwp1 T C 4: 19,627,645 (GRCm39) D750G probably benign Het
Zfp1006 A T 8: 129,945,660 (GRCm39) C388* probably null Het
Zmynd12 A T 4: 119,302,063 (GRCm39) D234V probably damaging Het
Other mutations in Arhgef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Arhgef1 APN 7 24,607,784 (GRCm39) missense possibly damaging 0.93
IGL00901:Arhgef1 APN 7 24,612,118 (GRCm39) missense probably damaging 1.00
IGL01139:Arhgef1 APN 7 24,625,376 (GRCm39) unclassified probably benign
IGL01479:Arhgef1 APN 7 24,612,028 (GRCm39) missense probably benign 0.01
IGL01935:Arhgef1 APN 7 24,621,307 (GRCm39) missense probably damaging 1.00
IGL01944:Arhgef1 APN 7 24,625,208 (GRCm39) critical splice acceptor site probably null
IGL02032:Arhgef1 APN 7 24,622,796 (GRCm39) missense probably benign 0.23
IGL02059:Arhgef1 APN 7 24,611,977 (GRCm39) splice site probably benign
IGL02202:Arhgef1 APN 7 24,612,854 (GRCm39) nonsense probably null
IGL02324:Arhgef1 APN 7 24,623,240 (GRCm39) missense probably damaging 1.00
IGL02328:Arhgef1 APN 7 24,623,240 (GRCm39) missense probably damaging 1.00
IGL03027:Arhgef1 APN 7 24,623,157 (GRCm39) missense probably damaging 0.98
IGL03227:Arhgef1 APN 7 24,622,276 (GRCm39) missense probably damaging 1.00
IGL03404:Arhgef1 APN 7 24,616,268 (GRCm39) missense probably benign 0.07
BB009:Arhgef1 UTSW 7 24,619,135 (GRCm39) missense probably damaging 1.00
BB019:Arhgef1 UTSW 7 24,619,135 (GRCm39) missense probably damaging 1.00
R0082:Arhgef1 UTSW 7 24,612,030 (GRCm39) nonsense probably null
R0277:Arhgef1 UTSW 7 24,623,224 (GRCm39) unclassified probably benign
R0336:Arhgef1 UTSW 7 24,621,382 (GRCm39) missense possibly damaging 0.77
R0494:Arhgef1 UTSW 7 24,618,785 (GRCm39) intron probably benign
R0668:Arhgef1 UTSW 7 24,607,345 (GRCm39) missense possibly damaging 0.63
R1520:Arhgef1 UTSW 7 24,619,129 (GRCm39) missense probably damaging 1.00
R1531:Arhgef1 UTSW 7 24,624,423 (GRCm39) missense probably damaging 0.99
R1656:Arhgef1 UTSW 7 24,613,057 (GRCm39) missense probably damaging 1.00
R2979:Arhgef1 UTSW 7 24,607,176 (GRCm39) missense unknown
R3855:Arhgef1 UTSW 7 24,618,697 (GRCm39) missense probably damaging 1.00
R3856:Arhgef1 UTSW 7 24,618,697 (GRCm39) missense probably damaging 1.00
R4080:Arhgef1 UTSW 7 24,625,271 (GRCm39) missense probably damaging 0.96
R4081:Arhgef1 UTSW 7 24,625,271 (GRCm39) missense probably damaging 0.96
R4583:Arhgef1 UTSW 7 24,611,996 (GRCm39) missense probably benign 0.09
R4750:Arhgef1 UTSW 7 24,618,001 (GRCm39) intron probably benign
R4914:Arhgef1 UTSW 7 24,623,264 (GRCm39) missense probably damaging 1.00
R5255:Arhgef1 UTSW 7 24,624,447 (GRCm39) missense probably damaging 1.00
R5275:Arhgef1 UTSW 7 24,618,777 (GRCm39) critical splice donor site probably null
R5295:Arhgef1 UTSW 7 24,618,777 (GRCm39) critical splice donor site probably null
R5430:Arhgef1 UTSW 7 24,611,732 (GRCm39) splice site probably null
R5604:Arhgef1 UTSW 7 24,612,210 (GRCm39) missense probably benign 0.09
R6150:Arhgef1 UTSW 7 24,618,782 (GRCm39) splice site probably null
R6151:Arhgef1 UTSW 7 24,617,367 (GRCm39) missense probably benign 0.00
R6788:Arhgef1 UTSW 7 24,619,205 (GRCm39) splice site probably null
R6943:Arhgef1 UTSW 7 24,623,156 (GRCm39) missense probably benign 0.01
R6988:Arhgef1 UTSW 7 24,616,348 (GRCm39) missense probably benign 0.04
R7422:Arhgef1 UTSW 7 24,615,461 (GRCm39) missense probably benign 0.00
R7701:Arhgef1 UTSW 7 24,612,003 (GRCm39) missense probably benign 0.01
R7706:Arhgef1 UTSW 7 24,616,306 (GRCm39) missense probably damaging 1.00
R7708:Arhgef1 UTSW 7 24,616,306 (GRCm39) missense probably damaging 1.00
R7932:Arhgef1 UTSW 7 24,619,135 (GRCm39) missense probably damaging 1.00
R7967:Arhgef1 UTSW 7 24,616,306 (GRCm39) missense probably damaging 1.00
R7970:Arhgef1 UTSW 7 24,616,306 (GRCm39) missense probably damaging 1.00
R7995:Arhgef1 UTSW 7 24,618,641 (GRCm39) missense probably damaging 0.99
R8029:Arhgef1 UTSW 7 24,619,163 (GRCm39) missense probably damaging 1.00
R8132:Arhgef1 UTSW 7 24,619,174 (GRCm39) nonsense probably null
R8132:Arhgef1 UTSW 7 24,607,087 (GRCm39) intron probably benign
R8168:Arhgef1 UTSW 7 24,624,831 (GRCm39) missense probably benign 0.06
R8964:Arhgef1 UTSW 7 24,622,462 (GRCm39) missense probably damaging 1.00
R9114:Arhgef1 UTSW 7 24,607,304 (GRCm39) missense probably damaging 1.00
R9553:Arhgef1 UTSW 7 24,619,115 (GRCm39) missense probably damaging 1.00
R9676:Arhgef1 UTSW 7 24,625,501 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAAGAGCACAGTGTCATAGTTC -3'
(R):5'- TCAGAGCCCAAAGGGTAAAC -3'

Sequencing Primer
(F):5'- AGAGCACAGTGTCATAGTTCTCCTG -3'
(R):5'- AGCGGGCAATTACTACCCCTG -3'
Posted On 2019-11-12