Incidental Mutation 'R8964:Arhgef1'
ID 682603
Institutional Source Beutler Lab
Gene Symbol Arhgef1
Ensembl Gene ENSMUSG00000040940
Gene Name Rho guanine nucleotide exchange factor 1
Synonyms Lbcl2, Lsc
MMRRC Submission 068798-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.389) question?
Stock # R8964 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 24602337-24626019 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24622462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 647 (E647G)
Ref Sequence ENSEMBL: ENSMUSP00000096280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047873] [ENSMUST00000098683] [ENSMUST00000117419] [ENSMUST00000117796] [ENSMUST00000132751] [ENSMUST00000205295] [ENSMUST00000206508] [ENSMUST00000206705]
AlphaFold Q61210
Predicted Effect probably benign
Transcript: ENSMUST00000047873
AA Change: E588G

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940
AA Change: E588G

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: E647G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940
AA Change: E647G

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: E588G

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113366
Gene: ENSMUSG00000040940
AA Change: E588G

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: E644G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940
AA Change: E644G

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 probably benign
Transcript: ENSMUST00000132751
AA Change: E348G

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117008
Gene: ENSMUSG00000040940
AA Change: E348G

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: ENSMUST00000205295
AA Change: E216G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000206508
AA Change: E587G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000206705
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik C T 7: 130,740,716 (GRCm39) V167M probably benign Het
Abca6 G A 11: 110,139,363 (GRCm39) P37L probably benign Het
Abca9 A T 11: 110,038,075 (GRCm39) Y490* probably null Het
Abcb11 A G 2: 69,117,061 (GRCm39) V529A possibly damaging Het
Acox2 G T 14: 8,243,768 (GRCm38) Y529* probably null Het
Acte1 A G 7: 143,423,030 (GRCm39) T39A probably benign Het
Adck2 G T 6: 39,551,083 (GRCm39) probably benign Het
Agxt T A 1: 93,072,869 (GRCm39) C409S possibly damaging Het
Ahsa1 T A 12: 87,318,131 (GRCm39) I164N probably damaging Het
Axin1 T G 17: 26,361,718 (GRCm39) F21V probably damaging Het
B3galnt1 A G 3: 69,482,589 (GRCm39) I224T probably damaging Het
Bche T C 3: 73,608,406 (GRCm39) K340R probably benign Het
Bpifb5 T A 2: 154,072,198 (GRCm39) W302R possibly damaging Het
Cd72 G A 4: 43,450,218 (GRCm39) T230I probably damaging Het
Cdc42ep4 T A 11: 113,620,278 (GRCm39) M38L probably damaging Het
Cdcp1 G A 9: 123,012,561 (GRCm39) Q329* probably null Het
Clps C A 17: 28,777,730 (GRCm39) probably benign Het
Cluap1 A G 16: 3,729,334 (GRCm39) probably benign Het
CN725425 C T 15: 91,119,972 (GRCm39) S31L possibly damaging Het
Cnbp T C 6: 87,821,086 (GRCm39) N158D probably benign Het
Crebbp A G 16: 3,909,753 (GRCm39) F1545S probably damaging Het
Cyp39a1 A T 17: 44,002,558 (GRCm39) T258S probably benign Het
Dclk2 T C 3: 86,743,698 (GRCm39) D257G probably damaging Het
Dock7 A T 4: 98,949,476 (GRCm39) D455E Het
Ehbp1 G A 11: 22,101,154 (GRCm39) Q259* probably null Het
Eif3a A T 19: 60,751,630 (GRCm39) D1228E unknown Het
Has2 A T 15: 56,531,061 (GRCm39) D551E probably damaging Het
Herc1 T A 9: 66,352,872 (GRCm39) N2119K probably damaging Het
Hsdl1 C T 8: 120,292,899 (GRCm39) A179T probably benign Het
Htt T A 5: 35,062,720 (GRCm39) M2818K probably benign Het
Il18bp A G 7: 101,665,591 (GRCm39) S80P possibly damaging Het
Ints10 A G 8: 69,264,631 (GRCm39) M455V probably benign Het
Ipcef1 T C 10: 6,869,789 (GRCm39) T255A possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrba T A 3: 86,258,552 (GRCm39) D1346E probably benign Het
Mdm1 T A 10: 118,002,585 (GRCm39) D635E probably damaging Het
Met C T 6: 17,527,144 (GRCm39) P532S probably damaging Het
Nlrc5 T A 8: 95,232,116 (GRCm39) M1314K possibly damaging Het
Notch1 A T 2: 26,371,062 (GRCm39) S341R possibly damaging Het
Nr3c2 T G 8: 77,881,941 (GRCm39) L670V probably damaging Het
Nuak1 C T 10: 84,210,734 (GRCm39) M451I probably benign Het
Nubp1 G A 16: 10,238,894 (GRCm39) V170I probably benign Het
Or5v1 G A 17: 37,809,664 (GRCm39) G41S probably damaging Het
Or9g8 T A 2: 85,606,964 (GRCm39) I12N probably damaging Het
Pamr1 T C 2: 102,464,811 (GRCm39) V320A possibly damaging Het
Pcdhb11 T A 18: 37,556,660 (GRCm39) N663K probably benign Het
Pcnx1 G A 12: 82,039,812 (GRCm39) G1400D Het
Pdxk A T 10: 78,283,771 (GRCm39) V141E probably benign Het
Pex5 A T 6: 124,375,740 (GRCm39) N520K probably benign Het
Pklr T C 3: 89,050,036 (GRCm39) V337A probably benign Het
Polb T C 8: 23,143,341 (GRCm39) D17G probably damaging Het
Ppp1r9b T C 11: 94,882,705 (GRCm39) L111P probably damaging Het
Prl3d1 A G 13: 27,283,926 (GRCm39) E165G possibly damaging Het
Prpf40a A G 2: 53,035,906 (GRCm39) F657S probably damaging Het
Ptgs2 C T 1: 149,980,798 (GRCm39) R455C probably damaging Het
Pzp T A 6: 128,464,462 (GRCm39) D1355V probably benign Het
Rasl12 T A 9: 65,314,913 (GRCm39) V72D probably damaging Het
Rfx2 C A 17: 57,093,696 (GRCm39) R266L probably damaging Het
Rnaseh2a T C 8: 85,686,434 (GRCm39) D204G probably benign Het
S1pr3 A C 13: 51,573,248 (GRCm39) K143T probably damaging Het
Sdr39u1 C A 14: 56,135,170 (GRCm39) A258S possibly damaging Het
Sntb2 T A 8: 107,707,808 (GRCm39) S191T possibly damaging Het
Sod3 T A 5: 52,525,696 (GRCm39) F132I probably damaging Het
Sorcs2 C T 5: 36,386,511 (GRCm39) V176I possibly damaging Het
Syne1 T C 10: 5,060,872 (GRCm39) I7256V Het
Tbc1d22b A G 17: 29,819,202 (GRCm39) E459G probably damaging Het
Tbkbp1 A G 11: 97,037,169 (GRCm39) S278P probably damaging Het
Thoc5 A T 11: 4,860,647 (GRCm39) E245D possibly damaging Het
Tmc7 G A 7: 118,160,228 (GRCm39) P203L probably benign Het
Tns2 T C 15: 102,011,553 (GRCm39) L11P possibly damaging Het
Trip11 A G 12: 101,811,315 (GRCm39) probably null Het
Ttn T G 2: 76,551,309 (GRCm39) Y31361S probably damaging Het
Vars2 T C 17: 35,970,699 (GRCm39) E678G possibly damaging Het
Vav1 C A 17: 57,606,122 (GRCm39) H249N probably benign Het
Vmn2r9 T A 5: 108,996,031 (GRCm39) I206L probably benign Het
Vps4a T C 8: 107,771,686 (GRCm39) S410P probably damaging Het
Wdr82 T C 9: 106,053,861 (GRCm39) Y71H possibly damaging Het
Zfand1 A G 3: 10,413,631 (GRCm39) Y19H probably benign Het
Zfp365 A T 10: 67,745,088 (GRCm39) I230N probably damaging Het
Zfp763 T C 17: 33,240,710 (GRCm39) T40A probably benign Het
Zfp788 A T 7: 41,297,003 (GRCm39) D51V 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
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
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'- TGCAGCGACTGACCAAGTAC -3'
(R):5'- TGATATAAGGCCAACTGCAGG -3'

Sequencing Primer
(F):5'- GTACCCACTGCTGCTACAGAG -3'
(R):5'- TGAGGTCCAGATCTGACCTC -3'
Posted On 2021-10-11