Incidental Mutation 'R8954:Arhgef28'
ID 681871
Institutional Source Beutler Lab
Gene Symbol Arhgef28
Ensembl Gene ENSMUSG00000021662
Gene Name Rho guanine nucleotide exchange factor 28
Synonyms Rgnef, 9230110L08Rik, Rho specific exchange factor, RhoGEF, RIP2, D13Bwg1089e, p190RhoGEF
MMRRC Submission 068790-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8954 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 98035977-98342947 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98066141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1571 (M1571V)
Ref Sequence ENSEMBL: ENSMUSP00000105053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109426] [ENSMUST00000225884]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000109426
AA Change: M1571V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: M1571V

DomainStartEndE-ValueType
low complexity region 530 568 N/A INTRINSIC
low complexity region 634 650 N/A INTRINSIC
C1 652 698 1.65e-11 SMART
RhoGEF 850 1040 1.11e-65 SMART
PH 1084 1187 1.08e-9 SMART
low complexity region 1267 1281 N/A INTRINSIC
coiled coil region 1469 1522 N/A INTRINSIC
low complexity region 1647 1663 N/A INTRINSIC
low complexity region 1682 1693 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000225884
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are born at lower than expected Mendelian ratios and exhibit a reduction in overall size that becomes negligible by 8 weeks of age. Mouse embryonic fibroblasts display defects in cell migration and focal adhesion formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl T A 2: 93,688,299 (GRCm39) Y445F probably benign Het
Actn4 T C 7: 28,594,583 (GRCm39) D815G probably damaging Het
Adam4 T C 12: 81,467,146 (GRCm39) S492G possibly damaging Het
Anapc2 A G 2: 25,170,490 (GRCm39) K643E probably benign Het
Ankfy1 T A 11: 72,641,317 (GRCm39) I630K possibly damaging Het
Arhgap24 A G 5: 103,040,136 (GRCm39) T361A probably benign Het
Arid5b A C 10: 67,937,810 (GRCm39) V196G possibly damaging Het
Art2b C A 7: 101,229,110 (GRCm39) probably null Het
Asxl3 G A 18: 22,650,807 (GRCm39) R932H probably damaging Het
B3galnt1 T C 3: 69,482,673 (GRCm39) N196S possibly damaging Het
Brd10 A T 19: 29,696,126 (GRCm39) N1122K possibly damaging Het
C5ar2 C A 7: 15,971,733 (GRCm39) V65F possibly damaging Het
Cfap54 A T 10: 92,879,255 (GRCm39) L403Q probably damaging Het
Cfap74 G A 4: 155,521,187 (GRCm39) E620K Het
Chac1 C T 2: 119,183,836 (GRCm39) A146V probably damaging Het
Cpne2 T A 8: 95,284,774 (GRCm39) S317T probably damaging Het
Cux1 T A 5: 136,402,203 (GRCm39) K138* probably null Het
Cwc22 T A 2: 77,754,937 (GRCm39) Y214F probably damaging Het
Cyp2c39 A T 19: 39,525,197 (GRCm39) T167S probably benign Het
Cyp4a12a T A 4: 115,185,935 (GRCm39) Y414* probably null Het
Dap3 A T 3: 88,835,570 (GRCm39) D256E probably damaging Het
Dmxl2 C T 9: 54,381,156 (GRCm39) S110N probably benign Het
Dnhd1 A T 7: 105,343,986 (GRCm39) I1777L probably benign Het
Ecel1 G A 1: 87,076,349 (GRCm39) Q717* probably null Het
Efcab3 T G 11: 104,909,525 (GRCm39) probably null Het
Eif3j2 G A 18: 43,610,699 (GRCm39) T38M possibly damaging Het
Fat3 T C 9: 16,287,864 (GRCm39) H553R probably benign Het
Fcho2 T C 13: 98,913,985 (GRCm39) D204G probably benign Het
Frmpd1 A T 4: 45,284,702 (GRCm39) E1174D probably benign Het
Gabra6 T A 11: 42,205,959 (GRCm39) Y299F probably damaging Het
Gak G A 5: 108,777,518 (GRCm39) probably benign Het
Gapdhs T A 7: 30,432,591 (GRCm39) H214L probably damaging Het
Gapvd1 T C 2: 34,568,110 (GRCm39) Y1418C probably damaging Het
Gk5 C A 9: 96,059,562 (GRCm39) D471E probably benign Het
Glg1 A G 8: 111,914,527 (GRCm39) M419T probably damaging Het
H2ac25 T A 11: 58,845,785 (GRCm39) N74K possibly damaging Het
Ice1 T C 13: 70,758,697 (GRCm39) N215S probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifitm10 T C 7: 141,882,300 (GRCm39) N157D probably benign Het
Itga11 A G 9: 62,676,545 (GRCm39) D911G possibly damaging Het
Kcnt1 A G 2: 25,784,338 (GRCm39) N247S probably benign Het
Kirrel1 T C 3: 86,997,173 (GRCm39) T265A probably benign Het
Klhl29 A T 12: 5,187,542 (GRCm39) L274H possibly damaging Het
Kmt2b T G 7: 30,273,640 (GRCm39) T2326P probably damaging Het
Lcn11 A G 2: 25,669,265 (GRCm39) S141G probably benign Het
Ldb3 T C 14: 34,277,301 (GRCm39) R358G probably null Het
Ldlr G A 9: 21,650,828 (GRCm39) D446N possibly damaging Het
Lipt2 T C 7: 99,809,449 (GRCm39) F179L probably damaging Het
Lmbrd1 G T 1: 24,745,121 (GRCm39) V154F possibly damaging Het
Malrd1 A G 2: 15,556,178 (GRCm39) I99V Het
Map1b T A 13: 99,570,735 (GRCm39) E662V unknown Het
Mfsd11 T C 11: 116,750,162 (GRCm39) S100P probably damaging Het
Mgst1 C T 6: 138,119,967 (GRCm39) probably benign Het
Mtf1 T A 4: 124,698,649 (GRCm39) V49D probably damaging Het
Mtss1 T C 15: 58,826,986 (GRCm39) D236G probably damaging Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Myh4 T A 11: 67,143,806 (GRCm39) F1089I possibly damaging Het
Nrxn1 A T 17: 90,897,615 (GRCm39) I835K probably damaging Het
Nsd3 T A 8: 26,163,394 (GRCm39) S595T probably damaging Het
Nt5c2 A T 19: 46,877,361 (GRCm39) S527T probably damaging Het
Or52m1 T C 7: 102,289,882 (GRCm39) V143A probably benign Het
Or56b2 T A 7: 104,337,900 (GRCm39) L226* probably null Het
Or5k3 T A 16: 58,969,319 (GRCm39) Y35* probably null Het
Or7e175 A T 9: 20,048,664 (GRCm39) D84V probably damaging Het
Or8k28 C A 2: 86,285,892 (GRCm39) C241F probably damaging Het
Osbpl8 A G 10: 111,108,053 (GRCm39) S350G probably benign Het
Otoa G A 7: 120,744,741 (GRCm39) W833* probably null Het
Pcdhga6 T G 18: 37,841,540 (GRCm39) I420S probably damaging Het
Pmfbp1 A C 8: 110,258,433 (GRCm39) M666L probably benign Het
Pola2 T G 19: 5,998,452 (GRCm39) D370A probably damaging Het
Ppip5k1 C G 2: 121,153,701 (GRCm39) probably benign Het
Ppp1r12b A T 1: 134,762,200 (GRCm39) D815E probably benign Het
Ppp4r3b T A 11: 29,155,669 (GRCm39) V545E possibly damaging Het
Ptpn23 A T 9: 110,221,568 (GRCm39) N177K probably damaging Het
Rad9b A T 5: 122,482,293 (GRCm39) S147R probably benign Het
Rps20 T A 4: 3,834,617 (GRCm39) M82L probably benign Het
Samd9l C T 6: 3,374,577 (GRCm39) V895I probably damaging Het
Sbf2 T A 7: 110,038,118 (GRCm39) K396* probably null Het
Sbno2 G T 10: 79,893,796 (GRCm39) Q1198K probably damaging Het
Scp2d1 C T 2: 144,665,886 (GRCm39) T75I probably damaging Het
Shank3 T A 15: 89,433,431 (GRCm39) I1392N possibly damaging Het
Sidt1 A G 16: 44,082,390 (GRCm39) F532L probably benign Het
Smchd1 A T 17: 71,755,752 (GRCm39) V243D probably damaging Het
Smg1 T C 7: 117,806,215 (GRCm39) R185G probably damaging Het
Spag16 C T 1: 70,036,004 (GRCm39) S344F Het
Spata31f3 G T 4: 42,871,753 (GRCm39) D207E probably damaging Het
Spsb3 A G 17: 25,110,493 (GRCm39) D440G probably damaging Het
Themis A C 10: 28,665,709 (GRCm39) S591R probably benign Het
Trpm1 G A 7: 63,858,089 (GRCm39) V177I probably damaging Het
Usp37 A G 1: 74,514,143 (GRCm39) probably null Het
Vmn1r171 C T 7: 23,332,525 (GRCm39) T238I probably damaging Het
Vmn2r33 T C 7: 7,554,655 (GRCm39) M633V probably benign Het
Vmn2r93 T A 17: 18,546,252 (GRCm39) L708H probably damaging Het
Vps35l A T 7: 118,393,801 (GRCm39) T450S possibly damaging Het
Wdr53 T A 16: 32,075,473 (GRCm39) V226E probably damaging Het
Wdr62 T A 7: 29,953,454 (GRCm39) I193F probably damaging Het
Zfp607b T A 7: 27,403,387 (GRCm39) D614E probably benign Het
Other mutations in Arhgef28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Arhgef28 APN 13 98,124,785 (GRCm39) missense probably benign 0.15
IGL00945:Arhgef28 APN 13 98,103,907 (GRCm39) missense possibly damaging 0.88
IGL01099:Arhgef28 APN 13 98,090,480 (GRCm39) splice site probably benign
IGL01328:Arhgef28 APN 13 98,106,831 (GRCm39) missense probably damaging 1.00
IGL01396:Arhgef28 APN 13 98,090,401 (GRCm39) missense probably damaging 0.99
IGL02067:Arhgef28 APN 13 98,213,825 (GRCm39) missense probably damaging 1.00
IGL02147:Arhgef28 APN 13 98,097,822 (GRCm39) missense probably damaging 1.00
IGL02285:Arhgef28 APN 13 98,187,536 (GRCm39) missense possibly damaging 0.85
IGL02439:Arhgef28 APN 13 98,067,647 (GRCm39) missense possibly damaging 0.75
IGL02499:Arhgef28 APN 13 98,090,291 (GRCm39) missense possibly damaging 0.87
IGL02532:Arhgef28 APN 13 98,166,391 (GRCm39) missense probably damaging 0.99
IGL02634:Arhgef28 APN 13 98,187,566 (GRCm39) missense probably benign 0.00
IGL02902:Arhgef28 APN 13 98,083,383 (GRCm39) missense probably damaging 1.00
IGL03067:Arhgef28 APN 13 98,124,794 (GRCm39) missense probably benign 0.00
IGL03081:Arhgef28 APN 13 98,165,881 (GRCm39) splice site probably benign
IGL03106:Arhgef28 APN 13 98,094,301 (GRCm39) missense probably damaging 1.00
IGL03195:Arhgef28 APN 13 98,088,071 (GRCm39) splice site probably null
IGL03325:Arhgef28 APN 13 98,036,324 (GRCm39) missense probably benign 0.03
H8786:Arhgef28 UTSW 13 98,083,461 (GRCm39) missense probably damaging 1.00
R0027:Arhgef28 UTSW 13 98,082,204 (GRCm39) missense possibly damaging 0.94
R0027:Arhgef28 UTSW 13 98,082,204 (GRCm39) missense possibly damaging 0.94
R0062:Arhgef28 UTSW 13 98,093,150 (GRCm39) missense possibly damaging 0.56
R0062:Arhgef28 UTSW 13 98,093,150 (GRCm39) missense possibly damaging 0.56
R0090:Arhgef28 UTSW 13 98,211,618 (GRCm39) missense probably damaging 0.99
R0096:Arhgef28 UTSW 13 98,067,762 (GRCm39) missense probably damaging 1.00
R0096:Arhgef28 UTSW 13 98,067,762 (GRCm39) missense probably damaging 1.00
R0537:Arhgef28 UTSW 13 98,094,224 (GRCm39) missense probably damaging 1.00
R0617:Arhgef28 UTSW 13 98,106,863 (GRCm39) missense probably benign 0.21
R0711:Arhgef28 UTSW 13 98,067,762 (GRCm39) missense probably damaging 1.00
R0723:Arhgef28 UTSW 13 98,075,987 (GRCm39) missense probably benign 0.16
R0790:Arhgef28 UTSW 13 98,117,914 (GRCm39) missense possibly damaging 0.51
R1240:Arhgef28 UTSW 13 98,066,000 (GRCm39) missense probably benign 0.00
R1365:Arhgef28 UTSW 13 98,211,632 (GRCm39) missense probably damaging 1.00
R1456:Arhgef28 UTSW 13 98,211,510 (GRCm39) missense probably benign 0.01
R1490:Arhgef28 UTSW 13 98,114,952 (GRCm39) missense probably damaging 1.00
R1496:Arhgef28 UTSW 13 98,102,054 (GRCm39) missense possibly damaging 0.93
R1660:Arhgef28 UTSW 13 98,117,884 (GRCm39) missense probably benign 0.05
R1671:Arhgef28 UTSW 13 98,067,542 (GRCm39) missense possibly damaging 0.95
R1747:Arhgef28 UTSW 13 98,073,332 (GRCm39) missense probably damaging 1.00
R1792:Arhgef28 UTSW 13 98,067,694 (GRCm39) missense probably benign 0.03
R1864:Arhgef28 UTSW 13 98,130,640 (GRCm39) missense probably benign 0.00
R1887:Arhgef28 UTSW 13 98,282,081 (GRCm39) missense probably damaging 0.97
R1924:Arhgef28 UTSW 13 98,073,324 (GRCm39) splice site probably benign
R1987:Arhgef28 UTSW 13 98,103,604 (GRCm39) missense probably benign
R2215:Arhgef28 UTSW 13 98,187,529 (GRCm39) missense possibly damaging 0.78
R2342:Arhgef28 UTSW 13 98,130,537 (GRCm39) missense probably benign 0.00
R2495:Arhgef28 UTSW 13 98,165,881 (GRCm39) splice site probably benign
R3897:Arhgef28 UTSW 13 98,093,084 (GRCm39) missense probably damaging 1.00
R3922:Arhgef28 UTSW 13 98,130,452 (GRCm39) missense possibly damaging 0.92
R4063:Arhgef28 UTSW 13 98,130,575 (GRCm39) missense probably benign 0.16
R4086:Arhgef28 UTSW 13 98,103,712 (GRCm39) missense probably damaging 0.98
R4543:Arhgef28 UTSW 13 98,211,508 (GRCm39) missense probably benign 0.00
R4730:Arhgef28 UTSW 13 98,114,650 (GRCm39) missense probably benign 0.00
R4735:Arhgef28 UTSW 13 98,036,237 (GRCm39) missense probably damaging 1.00
R4953:Arhgef28 UTSW 13 98,066,062 (GRCm39) missense possibly damaging 0.51
R5069:Arhgef28 UTSW 13 98,211,714 (GRCm39) missense probably damaging 0.96
R5558:Arhgef28 UTSW 13 98,097,968 (GRCm39) missense probably damaging 1.00
R5573:Arhgef28 UTSW 13 98,065,999 (GRCm39) missense probably benign 0.01
R5594:Arhgef28 UTSW 13 98,076,000 (GRCm39) missense probably benign 0.00
R5937:Arhgef28 UTSW 13 98,076,051 (GRCm39) missense probably benign 0.00
R5987:Arhgef28 UTSW 13 98,073,368 (GRCm39) nonsense probably null
R6015:Arhgef28 UTSW 13 98,211,530 (GRCm39) missense possibly damaging 0.73
R6193:Arhgef28 UTSW 13 98,121,888 (GRCm39) missense probably damaging 1.00
R6209:Arhgef28 UTSW 13 98,065,917 (GRCm39) critical splice donor site probably null
R6306:Arhgef28 UTSW 13 98,121,896 (GRCm39) missense probably damaging 1.00
R6393:Arhgef28 UTSW 13 98,130,527 (GRCm39) missense possibly damaging 0.64
R6562:Arhgef28 UTSW 13 98,124,647 (GRCm39) critical splice donor site probably null
R6646:Arhgef28 UTSW 13 98,076,002 (GRCm39) missense probably benign 0.09
R6655:Arhgef28 UTSW 13 98,036,163 (GRCm39) missense probably damaging 1.00
R6707:Arhgef28 UTSW 13 98,211,624 (GRCm39) missense possibly damaging 0.80
R6707:Arhgef28 UTSW 13 98,073,224 (GRCm39) missense probably damaging 0.96
R6751:Arhgef28 UTSW 13 98,211,755 (GRCm39) missense probably damaging 0.97
R6940:Arhgef28 UTSW 13 98,102,038 (GRCm39) missense possibly damaging 0.58
R7018:Arhgef28 UTSW 13 98,101,943 (GRCm39) missense probably damaging 1.00
R7030:Arhgef28 UTSW 13 98,124,769 (GRCm39) missense possibly damaging 0.88
R7120:Arhgef28 UTSW 13 98,081,047 (GRCm39) missense probably damaging 1.00
R7266:Arhgef28 UTSW 13 98,101,960 (GRCm39) missense probably benign
R7353:Arhgef28 UTSW 13 98,211,710 (GRCm39) missense probably damaging 1.00
R7368:Arhgef28 UTSW 13 98,133,370 (GRCm39) missense probably benign 0.34
R7491:Arhgef28 UTSW 13 98,081,194 (GRCm39) missense probably benign 0.03
R7500:Arhgef28 UTSW 13 98,115,003 (GRCm39) missense probably benign 0.00
R7653:Arhgef28 UTSW 13 98,105,821 (GRCm39) missense probably benign 0.04
R7813:Arhgef28 UTSW 13 98,082,189 (GRCm39) missense possibly damaging 0.48
R7989:Arhgef28 UTSW 13 98,036,243 (GRCm39) missense probably benign
R8064:Arhgef28 UTSW 13 98,115,002 (GRCm39) missense probably benign 0.13
R8221:Arhgef28 UTSW 13 98,282,064 (GRCm39) missense probably benign 0.00
R8293:Arhgef28 UTSW 13 98,079,029 (GRCm39) missense probably benign 0.00
R8328:Arhgef28 UTSW 13 98,187,517 (GRCm39) missense possibly damaging 0.88
R8348:Arhgef28 UTSW 13 98,190,375 (GRCm39) missense possibly damaging 0.50
R8432:Arhgef28 UTSW 13 98,088,091 (GRCm39) missense probably benign 0.29
R8843:Arhgef28 UTSW 13 98,130,557 (GRCm39) missense probably benign
R8859:Arhgef28 UTSW 13 98,082,210 (GRCm39) missense probably damaging 1.00
R8987:Arhgef28 UTSW 13 98,190,472 (GRCm39) missense possibly damaging 0.87
R9253:Arhgef28 UTSW 13 98,124,779 (GRCm39) missense probably benign 0.09
R9351:Arhgef28 UTSW 13 98,130,576 (GRCm39) missense probably benign 0.11
R9381:Arhgef28 UTSW 13 98,036,269 (GRCm39) missense possibly damaging 0.60
R9395:Arhgef28 UTSW 13 98,103,692 (GRCm39) frame shift probably null
R9466:Arhgef28 UTSW 13 98,124,825 (GRCm39) missense
R9529:Arhgef28 UTSW 13 98,213,773 (GRCm39) missense probably damaging 1.00
R9641:Arhgef28 UTSW 13 98,078,983 (GRCm39) missense probably benign 0.00
R9662:Arhgef28 UTSW 13 98,065,969 (GRCm39) missense probably benign 0.20
R9744:Arhgef28 UTSW 13 98,094,261 (GRCm39) missense probably damaging 1.00
R9776:Arhgef28 UTSW 13 98,133,415 (GRCm39) missense probably benign 0.19
Z1088:Arhgef28 UTSW 13 98,082,199 (GRCm39) missense probably damaging 1.00
Z1177:Arhgef28 UTSW 13 98,036,264 (GRCm39) missense probably benign 0.43
Predicted Primers PCR Primer
(F):5'- ACTCAGAGGACCAATTTCACATTG -3'
(R):5'- CAAGAGTTTTCAGGCTCATGGG -3'

Sequencing Primer
(F):5'- GAGGACCAATTTCACATTGACATC -3'
(R):5'- GGCTCATGGGCTAAATAAATACTTC -3'
Posted On 2021-08-31