Incidental Mutation 'R7653:Arhgef28'
ID 580499
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 045730-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7653 (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 98105821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 706 (Y706C)
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: Y706C

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: Y706C

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
AA Change: Y706C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik A T 6: 92,805,050 (GRCm39) Q70L unknown Het
Adamts12 T A 15: 11,257,115 (GRCm39) N489K probably benign Het
Alms1 A G 6: 85,597,577 (GRCm39) D801G possibly damaging Het
Apex1 T G 14: 51,163,995 (GRCm39) N173K probably damaging Het
Arhgap32 A T 9: 32,168,441 (GRCm39) N808I probably benign Het
Atg2b A T 12: 105,602,731 (GRCm39) F1604Y possibly damaging Het
Atm A T 9: 53,401,602 (GRCm39) Y1422* probably null Het
Bace2 T A 16: 97,237,852 (GRCm39) V38E Het
Birc6 C A 17: 74,954,729 (GRCm39) L3442I possibly damaging Het
C6 T A 15: 4,844,244 (GRCm39) S889T Het
Calcrl A T 2: 84,175,529 (GRCm39) L275* probably null Het
Casp6 T C 3: 129,705,872 (GRCm39) Y180H probably benign Het
Cd5 T C 19: 10,703,910 (GRCm39) M51V probably benign Het
Cdhr1 G T 14: 36,804,158 (GRCm39) P500Q probably benign Het
Celsr3 G A 9: 108,712,269 (GRCm39) W1732* probably null Het
Ces2g T C 8: 105,689,285 (GRCm39) V87A probably damaging Het
Chil6 T C 3: 106,301,641 (GRCm39) N153S possibly damaging Het
Chrna5 A T 9: 54,909,718 (GRCm39) D113V probably benign Het
Cimip2b T G 4: 43,427,273 (GRCm39) probably null Het
Cox20 A G 1: 178,150,164 (GRCm39) T113A probably benign Het
Cryl1 T C 14: 57,541,148 (GRCm39) I179V probably benign Het
Dennd3 A G 15: 73,434,275 (GRCm39) T982A probably damaging Het
Drosha G A 15: 12,859,522 (GRCm39) V577I probably benign Het
Dync2h1 A G 9: 7,117,570 (GRCm39) S2240P probably benign Het
Eif1ad14 T A 12: 87,886,248 (GRCm39) D127V unknown Het
Fbxl5 C T 5: 43,916,116 (GRCm39) S432N probably benign Het
Fez1 T A 9: 36,772,146 (GRCm39) S150R probably benign Het
Gabrb2 T G 11: 42,378,039 (GRCm39) M85R probably damaging Het
Lhx4 A G 1: 155,580,617 (GRCm39) V203A probably damaging Het
Med23 G A 10: 24,780,282 (GRCm39) D977N probably damaging Het
Mplkip T C 13: 17,870,367 (GRCm39) F100L probably damaging Het
Ncoa7 C T 10: 30,570,239 (GRCm39) G240E probably damaging Het
Nedd4 A G 9: 72,650,910 (GRCm39) E827G probably damaging Het
Nfatc2 A G 2: 168,413,065 (GRCm39) F207L probably benign Het
Nr2f1 A T 13: 78,343,716 (GRCm39) S183T probably benign Het
Ocel1 A G 8: 71,824,560 (GRCm39) E81G probably benign Het
Or10aa3 T C 1: 173,878,488 (GRCm39) V183A probably benign Het
Or10g3b C A 14: 52,586,889 (GRCm39) G205* probably null Het
Or4n4b C T 14: 50,536,604 (GRCm39) G54E possibly damaging Het
Pcdh8 G A 14: 80,005,086 (GRCm39) P980S probably benign Het
Pex26 A T 6: 121,170,510 (GRCm39) Q285L possibly damaging Het
Pgap6 T A 17: 26,339,423 (GRCm39) M579K probably damaging Het
Plce1 A T 19: 38,737,763 (GRCm39) N1603I probably benign Het
Poli A T 18: 70,642,698 (GRCm39) C501S probably benign Het
Ppp4r4 C T 12: 103,550,404 (GRCm39) T276I probably damaging Het
Rbpj T A 5: 53,747,693 (GRCm39) M1K probably null Het
Recql4 T A 15: 76,587,982 (GRCm39) M1204L probably benign Het
Ribc2 T C 15: 85,025,876 (GRCm39) I284T probably benign Het
Rreb1 C A 13: 38,114,362 (GRCm39) Q574K probably benign Het
Scn9a A T 2: 66,357,424 (GRCm39) L959Q probably damaging Het
Shank1 C A 7: 43,969,093 (GRCm39) H329Q unknown Het
Soat2 A T 15: 102,071,013 (GRCm39) D469V probably damaging Het
Spag7 T A 11: 70,555,691 (GRCm39) H82L probably damaging Het
Sptb T C 12: 76,675,271 (GRCm39) I248V probably benign Het
Tacr3 A G 3: 134,566,843 (GRCm39) I239V probably benign Het
Tbc1d1 T C 5: 64,414,133 (GRCm39) F165L probably benign Het
Tchhl1 A G 3: 93,378,451 (GRCm39) E385G probably benign Het
Tecta C T 9: 42,248,532 (GRCm39) D1957N probably damaging Het
Tenm2 T C 11: 35,938,174 (GRCm39) I1501V probably benign Het
Tet2 G T 3: 133,192,146 (GRCm39) Q763K probably benign Het
Timd6 A C 11: 46,475,200 (GRCm39) S132R probably benign Het
Tox3 G A 8: 90,975,617 (GRCm39) T338I probably damaging Het
Usp30 G A 5: 114,259,730 (GRCm39) D479N probably damaging Het
Vmn1r27 T C 6: 58,192,785 (GRCm39) D73G possibly damaging Het
Vmn1r27 A T 6: 58,192,879 (GRCm39) S42T probably benign Het
Vmn2r120 A T 17: 57,816,258 (GRCm39) V699D possibly damaging Het
Vwa2 A T 19: 56,897,767 (GRCm39) T691S probably benign Het
Wdr31 T A 4: 62,381,666 (GRCm39) Q55L probably benign Het
Xdh A G 17: 74,204,040 (GRCm39) F1107L probably benign Het
Zfp184 A G 13: 22,143,887 (GRCm39) H531R probably damaging Het
Zfp366 T C 13: 99,365,709 (GRCm39) L290P probably damaging 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
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
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'- ATACAGTGCAGAACCTCTAGGG -3'
(R):5'- GCACATTTTGTTGTCATCACACTG -3'

Sequencing Primer
(F):5'- GGGCTGACCTAGACGTTTATATCC -3'
(R):5'- TGTTGTCATCACACTGTACTTTTTG -3'
Posted On 2019-10-07