Incidental Mutation 'IGL02032:Arhgef1'
ID 184395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef1
Ensembl Gene ENSMUSG00000040940
Gene Name Rho guanine nucleotide exchange factor 1
Synonyms Lbcl2, Lsc
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.389) question?
Stock # IGL02032
Quality Score
Status
Chromosome 7
Chromosomal Location 24602337-24626019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24622796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 614 (K614R)
Ref Sequence ENSEMBL: ENSMUSP00000146314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047873] [ENSMUST00000098683] [ENSMUST00000117419] [ENSMUST00000117796] [ENSMUST00000132751] [ENSMUST00000206508] [ENSMUST00000205295] [ENSMUST00000206705]
AlphaFold Q61210
Predicted Effect probably benign
Transcript: ENSMUST00000047873
AA Change: K615R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940
AA Change: K615R

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 benign
Transcript: ENSMUST00000098683
AA Change: K674R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940
AA Change: K674R

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 probably benign
Transcript: ENSMUST00000117419
AA Change: K615R

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940
AA Change: K615R

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 benign
Transcript: ENSMUST00000117796
AA Change: K671R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940
AA Change: K671R

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 noncoding transcript
Transcript: ENSMUST00000126484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126918
Predicted Effect probably benign
Transcript: ENSMUST00000132751
AA Change: K375R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117008
Gene: ENSMUSG00000040940
AA Change: K375R

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: ENSMUST00000206508
AA Change: K614R

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129928
Predicted Effect probably benign
Transcript: ENSMUST00000205295
Predicted Effect probably benign
Transcript: ENSMUST00000206705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144714
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T A 5: 62,828,340 (GRCm39) I944F probably damaging Het
Cep170b T C 12: 112,703,767 (GRCm39) probably null Het
Cfhr4 G A 1: 139,702,284 (GRCm39) P67S probably damaging Het
Cps1 A T 1: 67,269,474 (GRCm39) Y1491F probably benign Het
Dennd2d T C 3: 106,398,543 (GRCm39) I176T probably damaging Het
Dnah1 T C 14: 30,996,326 (GRCm39) Y2670C probably benign Het
Dock8 A T 19: 25,107,769 (GRCm39) H833L probably damaging Het
Ell G A 8: 71,038,651 (GRCm39) A463T probably benign Het
Emsy G T 7: 98,239,987 (GRCm39) D1089E possibly damaging Het
Erc1 T G 6: 119,607,570 (GRCm39) K677N probably damaging Het
Exd1 T G 2: 119,363,948 (GRCm39) Q140P probably damaging Het
Fam114a1 T A 5: 65,172,714 (GRCm39) V284E probably benign Het
Fbxo36 A G 1: 84,874,387 (GRCm39) probably benign Het
Fig4 A T 10: 41,179,002 (GRCm39) V16E probably benign Het
H2-M1 A T 17: 36,982,768 (GRCm39) Y31N probably damaging Het
Lrp5 A G 19: 3,665,886 (GRCm39) probably benign Het
Nol8 A G 13: 49,826,248 (GRCm39) T1023A probably benign Het
Or1b1 A T 2: 36,994,773 (GRCm39) S296R probably damaging Het
Pygm A T 19: 6,438,117 (GRCm39) T141S probably benign Het
Soat1 A G 1: 156,268,145 (GRCm39) I254T probably benign Het
Spopfm1 T C 3: 94,173,640 (GRCm39) V212A probably damaging Het
Stat5a A T 11: 100,752,654 (GRCm39) D79V probably damaging Het
Ttn G T 2: 76,774,432 (GRCm39) T2158N probably damaging Het
Usp29 A G 7: 6,965,017 (GRCm39) K287E probably benign Het
Vav1 A T 17: 57,604,090 (GRCm39) E164V possibly damaging Het
Vmn2r3 T A 3: 64,182,476 (GRCm39) T408S possibly damaging Het
Vmn2r61 A T 7: 41,949,466 (GRCm39) I629F 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
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
R7707: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
Posted On 2014-05-07