Incidental Mutation 'R5594:Arhgef28'
ID 437727
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 043146-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5594 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 98035977-98342947 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98076000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1345 (T1345A)
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: T1345A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105053
Gene: ENSMUSG00000021662
AA Change: T1345A

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 noncoding transcript
Transcript: ENSMUST00000225269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225663
Predicted Effect probably benign
Transcript: ENSMUST00000225884
Meta Mutation Damage Score 0.0623 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency 100% (80/80)
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
4930556J24Rik C T 11: 3,888,027 (GRCm39) V120I unknown Het
4931414P19Rik A G 14: 54,822,441 (GRCm39) Y399H probably damaging Het
Abca9 G T 11: 110,035,688 (GRCm39) P644Q probably damaging Het
Acly T C 11: 100,412,946 (GRCm39) probably null Het
Adamts14 A T 10: 61,062,880 (GRCm39) probably null Het
Ankdd1a T C 9: 65,409,523 (GRCm39) N471S probably damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Arhgef40 T A 14: 52,233,614 (GRCm39) L820H probably damaging Het
Atp2b4 A G 1: 133,658,248 (GRCm39) V554A probably damaging Het
Birc7 G A 2: 180,575,129 (GRCm39) probably null Het
Ccdc80 C T 16: 44,936,626 (GRCm39) R684C probably benign Het
Cdc25b C A 2: 131,033,538 (GRCm39) P159Q probably damaging Het
Cdcp3 T A 7: 130,841,252 (GRCm39) D647E probably benign Het
Chek2 G T 5: 111,003,700 (GRCm39) probably null Het
Chil6 C T 3: 106,301,745 (GRCm39) probably null Het
Cr2 A G 1: 194,839,498 (GRCm39) I643T probably damaging Het
Cwf19l2 C A 9: 3,418,773 (GRCm39) Q187K probably benign Het
Cyth4 A G 15: 78,491,275 (GRCm39) probably null Het
Depdc5 A G 5: 33,058,834 (GRCm39) T268A possibly damaging Het
Dnah17 G T 11: 117,934,055 (GRCm39) probably null Het
Dnah3 T C 7: 119,570,844 (GRCm39) Y2210C possibly damaging Het
Elmod3 G A 6: 72,571,799 (GRCm39) probably benign Het
Eogt T A 6: 97,092,996 (GRCm39) T394S probably benign Het
Evi5 A G 5: 107,968,317 (GRCm39) V182A possibly damaging Het
Fbxo30 T C 10: 11,166,223 (GRCm39) I315T probably benign Het
Fibcd1 T C 2: 31,728,629 (GRCm39) N76S probably damaging Het
Gcc2 G T 10: 58,123,064 (GRCm39) R1190M probably damaging Het
Gfm2 T C 13: 97,301,546 (GRCm39) S450P probably damaging Het
Glg1 G A 8: 111,914,513 (GRCm39) R424C probably damaging Het
Gm11543 T A 11: 94,719,380 (GRCm39) noncoding transcript Het
Hhip G T 8: 80,723,492 (GRCm39) D387E probably damaging Het
Hif1a T A 12: 73,984,566 (GRCm39) Y46* probably null Het
Hivep3 G T 4: 119,980,245 (GRCm39) probably null Het
Kif13a T A 13: 46,906,338 (GRCm39) E535V probably damaging Het
Lrch3 T C 16: 32,734,554 (GRCm39) Y15H probably damaging Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Lyst T A 13: 13,933,982 (GRCm39) V3560E probably benign Het
Megf11 T C 9: 64,593,755 (GRCm39) F613L probably damaging Het
Misp G A 10: 79,662,977 (GRCm39) V465M probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Ms4a6c T A 19: 11,455,537 (GRCm39) D115E probably benign Het
Msh6 A G 17: 88,293,497 (GRCm39) T751A probably benign Het
Ntrk3 T A 7: 78,101,647 (GRCm39) T429S probably benign Het
Oplah A C 15: 76,180,837 (GRCm39) *1289G probably null Het
Or14j7 T A 17: 38,234,502 (GRCm39) M15K probably benign Het
Or7e166 T C 9: 19,624,302 (GRCm39) Y60H probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhga6 A T 18: 37,841,581 (GRCm39) T434S probably benign Het
Pign A G 1: 105,574,594 (GRCm39) probably benign Het
Poteg A T 8: 27,937,996 (GRCm39) I51F probably benign Het
Prrc2c C A 1: 162,526,600 (GRCm39) V204F unknown Het
Rhbdd3 T C 11: 5,055,710 (GRCm39) S325P probably damaging Het
Rit1 T A 3: 88,636,444 (GRCm39) L116Q probably damaging Het
Rpl22 T A 4: 152,410,259 (GRCm39) probably benign Het
Rttn A G 18: 89,108,560 (GRCm39) E1588G possibly damaging Het
Sardh A G 2: 27,110,735 (GRCm39) F577S probably damaging Het
Slc12a7 T A 13: 73,933,258 (GRCm39) D105E probably benign Het
Slc22a23 T A 13: 34,489,240 (GRCm39) D215V probably damaging Het
Slc4a8 C A 15: 100,693,768 (GRCm39) P438T probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Stk19 C T 17: 35,039,538 (GRCm39) probably benign Het
Stx5a T C 19: 8,725,829 (GRCm39) I143T probably damaging Het
Tep1 T C 14: 51,067,339 (GRCm39) H2232R possibly damaging Het
Trmt9b A G 8: 36,979,452 (GRCm39) T352A probably benign Het
Ttc21b A G 2: 66,066,579 (GRCm39) I358T probably benign Het
Tuba8 A G 6: 121,202,863 (GRCm39) D392G possibly damaging Het
Vmn1r1 G A 1: 181,984,972 (GRCm39) P231L probably damaging Het
Zfp330 A G 8: 83,493,941 (GRCm39) W107R probably damaging Het
Zfp715 T A 7: 42,949,116 (GRCm39) Q281H possibly damaging Het
Zfp9 T C 6: 118,442,000 (GRCm39) T221A probably damaging Het
Zgpat T C 2: 181,007,420 (GRCm39) 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
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
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'- ACACAGGAGGGTTGTCAAGC -3'
(R):5'- CCCCTGTAGGTTCATTCAGTATG -3'

Sequencing Primer
(F):5'- CACAGGAGGGTTGTCAAGCTTTTC -3'
(R):5'- AGTATGTATTATCTCGTGATGACTCC -3'
Posted On 2016-10-26