Incidental Mutation 'R7491:Arhgef28'
ID 580788
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 045565-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7491 (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 98081194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1221 (N1221S)
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: N1221S

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: N1221S

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: N1221S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G T 2: 68,445,099 (GRCm39) probably null Het
5730522E02Rik A T 11: 25,719,014 (GRCm39) V44E unknown Het
Adcy9 A G 16: 4,236,673 (GRCm39) L246S possibly damaging Het
Adk C T 14: 21,284,997 (GRCm39) H123Y probably damaging Het
Adra1b T A 11: 43,726,794 (GRCm39) D41V probably benign Het
Ankib1 T G 5: 3,751,911 (GRCm39) K710Q probably damaging Het
Aoc2 T A 11: 101,219,203 (GRCm39) V542D probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT 3: 95,795,450 (GRCm39) probably benign Het
Bmal1 T C 7: 112,898,631 (GRCm39) V353A probably benign Het
Cacna1a C A 8: 85,285,922 (GRCm39) R856S possibly damaging Het
Cacna1c T C 6: 118,590,304 (GRCm39) M1559V Het
Cdh10 G C 15: 19,013,445 (GRCm39) E682Q probably damaging Het
Celsr1 T C 15: 85,916,719 (GRCm39) D418G possibly damaging Het
Cfap44 T C 16: 44,291,111 (GRCm39) L1537P probably damaging Het
Clca3a2 A G 3: 144,519,340 (GRCm39) S279P probably damaging Het
Col2a1 C T 15: 97,874,040 (GRCm39) V1449I not run Het
Cpt2 A G 4: 107,764,339 (GRCm39) F475S probably damaging Het
Cpxm1 T C 2: 130,235,487 (GRCm39) T502A probably benign Het
Creb3l2 G T 6: 37,356,794 (GRCm39) T91N probably benign Het
D630045J12Rik A T 6: 38,119,601 (GRCm39) S1714T possibly damaging Het
Dennd1c C A 17: 57,379,379 (GRCm39) V246F probably damaging Het
Dse A G 10: 34,028,561 (GRCm39) V843A probably benign Het
Ern2 C A 7: 121,769,756 (GRCm39) W810L probably damaging Het
Fer1l6 G A 15: 58,472,281 (GRCm39) D906N probably damaging Het
Fry A G 5: 150,389,791 (GRCm39) E140G Het
Galnt7 A G 8: 58,005,552 (GRCm39) V227A probably damaging Het
Gas2l3 A G 10: 89,249,763 (GRCm39) S452P probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gm826 A T 2: 160,153,942 (GRCm39) S34T unknown Het
Gzmk A T 13: 113,308,535 (GRCm39) I222N probably benign Het
Hivep3 A T 4: 119,956,027 (GRCm39) T1448S probably benign Het
Hk1 T C 10: 62,131,524 (GRCm39) D278G probably damaging Het
Ipo7 C A 7: 109,638,401 (GRCm39) Q223K possibly damaging Het
Itga9 T A 9: 118,598,179 (GRCm39) I571N probably damaging Het
Itgb6 T C 2: 60,450,720 (GRCm39) Y573C probably damaging Het
Kmt2c T A 5: 25,489,562 (GRCm39) H4459L probably damaging Het
Limch1 T G 5: 67,211,580 (GRCm39) S894R probably damaging Het
Lrit2 A T 14: 36,790,867 (GRCm39) Q182L possibly damaging Het
Mlph A T 1: 90,867,100 (GRCm39) H374L possibly damaging Het
Mmrn2 A G 14: 34,121,374 (GRCm39) H748R probably damaging Het
Mrpl58 T C 11: 115,301,092 (GRCm39) V134A possibly damaging Het
Nae1 A T 8: 105,244,871 (GRCm39) D353E probably benign Het
Naip5 A C 13: 100,353,579 (GRCm39) F1227V probably benign Het
Nln A T 13: 104,205,831 (GRCm39) F108I probably damaging Het
Nop16 C T 13: 54,736,417 (GRCm39) V94I probably benign Het
Nt5c1b A T 12: 10,424,903 (GRCm39) T150S probably benign Het
Or10d4b T G 9: 39,535,268 (GRCm39) I281S possibly damaging Het
Pcdha4 T C 18: 37,087,689 (GRCm39) V624A probably damaging Het
Pcdhga8 T C 18: 37,860,483 (GRCm39) I513T probably benign Het
Prc1 A T 7: 79,959,239 (GRCm39) probably null Het
Prpf4 T A 4: 62,336,113 (GRCm39) F280Y probably damaging Het
Ptprd T C 4: 76,051,392 (GRCm39) E43G probably benign Het
Pum1 T A 4: 130,446,485 (GRCm39) D181E probably benign Het
Rab7 A G 6: 87,990,624 (GRCm39) S17P probably damaging Het
Rgs1 T C 1: 144,121,134 (GRCm39) Y179C probably damaging Het
Rrm1 T C 7: 102,103,764 (GRCm39) C238R probably damaging Het
Rusc2 T A 4: 43,426,528 (GRCm39) L1484Q probably damaging Het
Sall3 C T 18: 81,015,920 (GRCm39) M669I probably benign Het
Saxo1 A C 4: 86,363,644 (GRCm39) F280V probably benign Het
Scn2a T C 2: 65,532,352 (GRCm39) S655P probably damaging Het
Senp6 G T 9: 80,031,010 (GRCm39) E571* probably null Het
Sin3b C G 8: 73,473,069 (GRCm39) T463S probably damaging Het
Sirt7 C A 11: 120,509,837 (GRCm39) R349L probably benign Het
Skor1 T C 9: 63,053,730 (GRCm39) T80A probably damaging Het
Slc12a9 C A 5: 137,321,082 (GRCm39) A478S probably damaging Het
Slc25a23 T A 17: 57,359,822 (GRCm39) R310* probably null Het
Slco6c1 A T 1: 97,055,579 (GRCm39) H107Q probably benign Het
Slit2 A G 5: 48,377,336 (GRCm39) E455G probably benign Het
Smo G C 6: 29,736,119 (GRCm39) G37A probably damaging Het
St6galnac1 T C 11: 116,660,010 (GRCm39) K101R probably benign Het
Stat1 C A 1: 52,191,530 (GRCm39) N628K probably benign Het
Syn2 A T 6: 115,231,615 (GRCm39) Y302F probably benign Het
Tapt1 T G 5: 44,345,978 (GRCm39) Q324P probably damaging Het
Tgoln1 C T 6: 72,593,403 (GRCm39) A26T unknown Het
Timm13 T A 10: 80,736,378 (GRCm39) T43S probably benign Het
Tnfrsf19 G A 14: 61,242,654 (GRCm39) P77S possibly damaging Het
Trem3 T G 17: 48,564,969 (GRCm39) F157V probably benign Het
Trgv3 T A 13: 19,427,016 (GRCm39) M1K probably null Het
Trim33 T A 3: 103,233,464 (GRCm39) S420T probably benign Het
Trip11 T C 12: 101,851,694 (GRCm39) K790R probably damaging Het
Trnt1 A G 6: 106,755,865 (GRCm39) T307A probably benign Het
Tshz1 T C 18: 84,033,766 (GRCm39) Y214C probably damaging Het
Vmn2r105 T A 17: 20,448,827 (GRCm39) T117S probably benign Het
Vmn2r45 A G 7: 8,484,342 (GRCm39) Y488H probably benign Het
Vwa8 A T 14: 79,320,254 (GRCm39) K1088N probably benign Het
Wdr35 T C 12: 9,036,000 (GRCm39) V257A probably benign Het
Zfp189 T A 4: 49,521,569 (GRCm39) S3T probably benign Het
Zscan22 G A 7: 12,640,833 (GRCm39) C359Y probably damaging Het
Zscan4-ps2 A T 7: 11,251,812 (GRCm39) R283* probably null 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
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
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'- ACCCTGTAAACTCGGTCTCAG -3'
(R):5'- CACAGGTCGCAATCACAAGG -3'

Sequencing Primer
(F):5'- ACCAAATCGTTTCCAGGGG -3'
(R):5'- GGGAATTTGAATCTCTACCACCC -3'
Posted On 2019-10-17