Incidental Mutation 'R8859:Arhgef28'
ID 675562
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 068739-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8859 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 98035977-98342947 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98082210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1199 (D1199V)
Ref Sequence ENSEMBL: ENSMUSP00000105053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109426] [ENSMUST00000225884]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000109426
AA Change: D1199V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: D1199V

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 damaging
Transcript: ENSMUST00000225884
AA Change: D1199V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (95/96)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,328,397 (GRCm39) Y3490F Het
Abcc1 T C 16: 14,214,225 (GRCm39) V167A probably benign Het
Abcd2 G A 15: 91,073,149 (GRCm39) R337C probably damaging Het
Adcy1 A G 11: 7,111,877 (GRCm39) D914G probably benign Het
Ahnak G T 19: 8,984,567 (GRCm39) L1950F probably damaging Het
Alox5ap T C 5: 149,201,994 (GRCm39) probably null Het
Ank C T 15: 27,562,834 (GRCm39) H181Y possibly damaging Het
Ankrd44 T A 1: 54,706,680 (GRCm39) D592V possibly damaging Het
Ap4m1 T A 5: 138,174,185 (GRCm39) N185K possibly damaging Het
Arnt T C 3: 95,397,691 (GRCm39) probably null Het
Atcay C T 10: 81,060,298 (GRCm39) V13M probably benign Het
B4galt3 T C 1: 171,099,241 (GRCm39) S2P unknown Het
Bicra A T 7: 15,721,737 (GRCm39) S593R possibly damaging Het
Brsk2 A C 7: 141,552,415 (GRCm39) Q633P probably damaging Het
Cacna1c T A 6: 118,653,280 (GRCm39) S909C Het
Ccdc7a G A 8: 129,788,113 (GRCm39) T72M probably benign Het
Ccn1 T C 3: 145,354,380 (GRCm39) D177G probably benign Het
Cct2 A T 10: 116,896,739 (GRCm39) F155I possibly damaging Het
Cdv3 G T 9: 103,233,594 (GRCm39) P194T probably damaging Het
Cenpc1 A T 5: 86,160,153 (GRCm39) V895E probably benign Het
Cep170b T C 12: 112,702,881 (GRCm39) V448A probably benign Het
Chil3 G A 3: 106,071,440 (GRCm39) R75C possibly damaging Het
Cnfn A T 7: 25,067,869 (GRCm39) C24S probably benign Het
Cnga3 A G 1: 37,299,852 (GRCm39) K191E possibly damaging Het
Col12a1 A T 9: 79,587,681 (GRCm39) Y1153* probably null Het
Coq4 C A 2: 29,685,491 (GRCm39) H168Q probably damaging Het
Dennd2b T A 7: 109,123,863 (GRCm39) K1132M probably damaging Het
Dnajc14 G A 10: 128,642,488 (GRCm39) V137I probably benign Het
Efr3a T C 15: 65,726,614 (GRCm39) L569P probably damaging Het
Epb41l3 A T 17: 69,591,575 (GRCm39) E677D probably benign Het
Esp8 G A 17: 40,841,013 (GRCm39) M91I unknown Het
Fubp1 A T 3: 151,937,669 (GRCm39) probably benign Het
Gldc G T 19: 30,116,779 (GRCm39) A391D probably damaging Het
Gm17728 A G 17: 9,641,027 (GRCm39) T46A probably benign Het
Gm5798 A G 14: 41,072,603 (GRCm39) K112E probably damaging Het
Gpnmb A G 6: 49,028,964 (GRCm39) probably benign Het
Grwd1 T C 7: 45,475,298 (GRCm39) T415A probably benign Het
Gsdma3 C G 11: 98,522,086 (GRCm39) A172G possibly damaging Het
Hltf C T 3: 20,119,566 (GRCm39) Q204* probably null Het
Igf1r T G 7: 67,833,211 (GRCm39) V457G possibly damaging Het
Inhbc A T 10: 127,192,984 (GRCm39) M344K probably damaging Het
Jak3 C T 8: 72,131,160 (GRCm39) A60V probably benign Het
Kif13b A G 14: 64,979,882 (GRCm39) T511A probably benign Het
Lama2 T A 10: 27,335,384 (GRCm39) N97I possibly damaging Het
Limd2 T A 11: 106,049,576 (GRCm39) D104V probably damaging Het
Loxl3 T A 6: 83,014,526 (GRCm39) C145S probably damaging Het
Lrrc37 A C 11: 103,506,370 (GRCm39) I1866S unknown Het
Lrrc73 A G 17: 46,565,455 (GRCm39) N62S probably benign Het
Lrrtm4 A G 6: 79,998,870 (GRCm39) D94G probably damaging Het
Lsm3 C A 6: 91,499,252 (GRCm39) F86L probably damaging Het
Map10 T C 8: 126,397,291 (GRCm39) V228A probably benign Het
Mcidas A C 13: 113,130,664 (GRCm39) S54R possibly damaging Het
Me3 T C 7: 89,455,876 (GRCm39) Y243H probably damaging Het
Mgat4b A G 11: 50,121,674 (GRCm39) T89A possibly damaging Het
Mmp16 T A 4: 18,054,355 (GRCm39) probably benign Het
Mtmr9 G A 14: 63,781,226 (GRCm39) probably benign Het
Myo1b G T 1: 51,836,198 (GRCm39) A331E probably damaging Het
Ncoa6 C T 2: 155,248,388 (GRCm39) V1639M possibly damaging Het
Nek9 C T 12: 85,353,120 (GRCm39) G752R probably damaging Het
Nufip2 A G 11: 77,584,069 (GRCm39) Y661C probably benign Het
Or10w1 T A 19: 13,632,246 (GRCm39) V151E probably damaging Het
Or1n2 C T 2: 36,797,516 (GRCm39) A186V possibly damaging Het
Or51t4 A T 7: 102,598,373 (GRCm39) I234F probably damaging Het
Or7g16 T C 9: 18,726,992 (GRCm39) I199M possibly damaging Het
Or8g55 G A 9: 39,784,894 (GRCm39) G108S probably benign Het
Oxct2a A G 4: 123,216,322 (GRCm39) L353S probably benign Het
Parvg A G 15: 84,222,001 (GRCm39) I243V probably benign Het
Pcdhgb7 C A 18: 37,886,349 (GRCm39) N506K possibly damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pgghg G A 7: 140,525,367 (GRCm39) probably null Het
Phrf1 G T 7: 140,836,516 (GRCm39) G263W unknown Het
Ppfia1 A C 7: 144,032,762 (GRCm39) probably null Het
Prss37 T A 6: 40,491,897 (GRCm39) I228F probably damaging Het
Ptpro A T 6: 137,403,782 (GRCm39) K921* probably null Het
Rictor T G 15: 6,813,067 (GRCm39) L940R probably damaging Het
Rp1 A G 1: 4,420,183 (GRCm39) S310P probably benign Het
Ryr3 A G 2: 112,483,564 (GRCm39) V4091A probably damaging Het
Saxo4 T A 19: 10,459,599 (GRCm39) Y36F probably damaging Het
Sirt5 T A 13: 43,524,327 (GRCm39) M33K possibly damaging Het
Slc25a30 T A 14: 76,008,917 (GRCm39) Y90F probably benign Het
Stimate T A 14: 30,588,629 (GRCm39) Y119N probably damaging Het
Stk11 G A 10: 79,964,269 (GRCm39) D388N probably benign Het
Tgm1 C A 14: 55,949,686 (GRCm39) R126L probably benign Het
Tmem129 G T 5: 33,811,837 (GRCm39) T321N probably benign Het
Tnfrsf11a A T 1: 105,772,244 (GRCm39) probably null Het
Tor1aip1 A G 1: 155,907,190 (GRCm39) C195R probably benign Het
Tpr A G 1: 150,284,597 (GRCm39) E428G possibly damaging Het
Trps1 T A 15: 50,685,769 (GRCm39) D802V possibly damaging Het
Usp17lc T A 7: 103,064,316 (GRCm39) S6T probably benign Het
Vangl1 C A 3: 102,065,758 (GRCm39) R459L Het
Vmn1r43 T C 6: 89,846,937 (GRCm39) Y183C probably damaging Het
Vmn2r110 C T 17: 20,794,560 (GRCm39) C703Y probably damaging Het
Vmn2r54 T C 7: 12,363,702 (GRCm39) Q397R possibly damaging Het
Vmn2r88 T C 14: 51,656,263 (GRCm39) V824A probably damaging Het
Vmn2r89 A T 14: 51,693,170 (GRCm39) Y79F probably benign Het
Vnn1 T C 10: 23,780,484 (GRCm39) S491P probably benign Het
Zbbx A G 3: 74,968,741 (GRCm39) F572L unknown Het
Zc3h4 A T 7: 16,168,939 (GRCm39) Q1091L unknown Het
Zfp503 C T 14: 22,037,286 (GRCm39) V106I possibly damaging Het
Zfp874a T C 13: 67,590,647 (GRCm39) T346A 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
R8954:Arhgef28 UTSW 13 98,066,141 (GRCm39) missense probably benign 0.03
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'- ACCAGGGCTGTTGAATGTGG -3'
(R):5'- ACTAATCTCTTGGCAGGGAGGAG -3'

Sequencing Primer
(F):5'- GTTTTGGAGAAGGTGTGGACC -3'
(R):5'- GGAGGAGCAATGCGTTCTC -3'
Posted On 2021-07-15