Incidental Mutation 'R9162:Arhgef18'
ID 695785
Institutional Source Beutler Lab
Gene Symbol Arhgef18
Ensembl Gene ENSMUSG00000004568
Gene Name Rho/Rac guanine nucleotide exchange factor 18
Synonyms A430078G23Rik, D030053O22Rik
MMRRC Submission 068943-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9162 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 3403415-3506601 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3414645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 8 (Y8H)
Ref Sequence ENSEMBL: ENSMUSP00000096566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098966] [ENSMUST00000208363]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000098966
AA Change: Y8H

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096566
Gene: ENSMUSG00000074497
AA Change: Y8H

DomainStartEndE-ValueType
low complexity region 116 134 N/A INTRINSIC
low complexity region 291 308 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000208363
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a gene trap insertion exhibit greatly reduced viability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,611,732 (GRCm39) D516G probably damaging Het
Abcd2 A G 15: 91,058,926 (GRCm39) M506T probably benign Het
Abhd17a T C 10: 80,422,577 (GRCm39) Y35C probably damaging Het
Adamts12 A G 15: 11,311,721 (GRCm39) N1326S probably benign Het
Arsi T C 18: 61,050,569 (GRCm39) V484A probably damaging Het
Bsn T C 9: 107,987,883 (GRCm39) D2623G unknown Het
Cul9 A C 17: 46,837,529 (GRCm39) D1005E probably benign Het
Dchs1 A C 7: 105,414,732 (GRCm39) V770G probably damaging Het
Dcst2 C A 3: 89,274,088 (GRCm39) S213* probably null Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dysf C T 6: 84,089,215 (GRCm39) T926I probably damaging Het
Ext1 G A 15: 53,208,504 (GRCm39) R86* probably null Het
Fat1 T C 8: 45,404,352 (GRCm39) F368L probably damaging Het
Flnc T C 6: 29,455,860 (GRCm39) C2097R probably damaging Het
Git1 T A 11: 77,396,331 (GRCm39) I565N probably benign Het
Gpr22 A G 12: 31,758,724 (GRCm39) V466A probably benign Het
Hacd4 T A 4: 88,338,017 (GRCm39) T194S probably benign Het
Hectd4 A G 5: 121,445,042 (GRCm39) K93R possibly damaging Het
Kcnv1 T C 15: 44,972,450 (GRCm39) S478G possibly damaging Het
Kmt2a T C 9: 44,759,363 (GRCm39) S829G probably benign Het
Lnp1 A T 16: 56,737,844 (GRCm39) H81Q possibly damaging Het
Lrp1 C T 10: 127,441,368 (GRCm39) A252T probably benign Het
Msl2 T C 9: 100,978,928 (GRCm39) V434A probably benign Het
Myo1g T A 11: 6,460,897 (GRCm39) I716F probably damaging Het
Or52e19 A T 7: 102,958,927 (GRCm39) probably benign Het
Or56a42-ps1 A T 7: 104,777,454 (GRCm39) Y53* probably null Het
Or5b12 A T 19: 12,897,024 (GRCm39) Y216* probably null Het
Or7e175 A G 9: 20,040,457 (GRCm39) I6V probably benign Het
Pappa T A 4: 65,123,040 (GRCm39) S792T probably damaging Het
Pcdhb17 T C 18: 37,620,168 (GRCm39) S653P probably damaging Het
Plcd4 A G 1: 74,601,362 (GRCm39) K574R probably benign Het
Scyl3 C A 1: 163,773,891 (GRCm39) Q372K probably benign Het
Sgsm1 A T 5: 113,430,577 (GRCm39) D269E probably damaging Het
Siah2 C A 3: 58,599,104 (GRCm39) G45C unknown Het
Slc4a11 T A 2: 130,534,214 (GRCm39) D28V possibly damaging Het
Slco1a8 T A 6: 141,939,453 (GRCm39) E200V probably damaging Het
Socs4 T A 14: 47,528,301 (GRCm39) M412K probably damaging Het
Spata31e1 T G 13: 49,939,310 (GRCm39) Q800P possibly damaging Het
Spef2 T G 15: 9,602,017 (GRCm39) N1415T unknown Het
Stat6 A G 10: 127,487,089 (GRCm39) K199E probably damaging Het
Syndig1l A G 12: 84,727,291 (GRCm39) F91S probably damaging Het
Tank C A 2: 61,480,432 (GRCm39) Q324K possibly damaging Het
Tars3 G A 7: 65,332,518 (GRCm39) E540K probably benign Het
Tial1 A G 7: 128,050,415 (GRCm39) V70A possibly damaging Het
Tmem87b C T 2: 128,681,150 (GRCm39) T358I probably benign Het
Ttyh3 G A 5: 140,621,820 (GRCm39) A42V possibly damaging Het
Xrn1 T C 9: 95,915,660 (GRCm39) I1261T probably benign Het
Zfp229 T C 17: 21,964,495 (GRCm39) S242P probably damaging Het
Zmym2 T A 14: 57,163,361 (GRCm39) C638S probably benign Het
Other mutations in Arhgef18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Arhgef18 APN 8 3,479,553 (GRCm39) missense probably damaging 1.00
IGL01629:Arhgef18 APN 8 3,431,942 (GRCm39) missense possibly damaging 0.62
IGL01649:Arhgef18 APN 8 3,491,211 (GRCm39) splice site probably benign
IGL01736:Arhgef18 APN 8 3,501,624 (GRCm39) splice site probably benign
IGL01743:Arhgef18 APN 8 3,414,697 (GRCm39) missense probably benign 0.01
IGL02206:Arhgef18 APN 8 3,495,034 (GRCm39) missense probably benign 0.00
IGL02401:Arhgef18 APN 8 3,487,078 (GRCm39) missense probably damaging 1.00
IGL02938:Arhgef18 APN 8 3,500,802 (GRCm39) missense probably benign 0.02
IGL02943:Arhgef18 APN 8 3,498,553 (GRCm39) missense probably damaging 0.99
IGL02990:Arhgef18 APN 8 3,494,904 (GRCm39) missense probably benign 0.02
IGL03162:Arhgef18 APN 8 3,491,301 (GRCm39) splice site probably null
IGL03334:Arhgef18 APN 8 3,438,023 (GRCm39) missense probably benign 0.04
R0417:Arhgef18 UTSW 8 3,438,957 (GRCm39) utr 3 prime probably benign
R0646:Arhgef18 UTSW 8 3,436,959 (GRCm39) missense probably damaging 0.99
R0759:Arhgef18 UTSW 8 3,438,822 (GRCm39) utr 3 prime probably benign
R0880:Arhgef18 UTSW 8 3,439,032 (GRCm39) utr 3 prime probably benign
R0980:Arhgef18 UTSW 8 3,439,095 (GRCm39) utr 3 prime probably benign
R1175:Arhgef18 UTSW 8 3,439,023 (GRCm39) utr 3 prime probably benign
R1622:Arhgef18 UTSW 8 3,491,272 (GRCm39) missense possibly damaging 0.46
R1649:Arhgef18 UTSW 8 3,439,094 (GRCm39) utr 3 prime probably benign
R1681:Arhgef18 UTSW 8 3,489,645 (GRCm39) missense probably damaging 1.00
R1726:Arhgef18 UTSW 8 3,504,228 (GRCm39) missense possibly damaging 0.46
R1781:Arhgef18 UTSW 8 3,430,495 (GRCm39) missense probably damaging 0.98
R2126:Arhgef18 UTSW 8 3,501,939 (GRCm39) missense probably damaging 0.99
R2161:Arhgef18 UTSW 8 3,489,575 (GRCm39) nonsense probably null
R2211:Arhgef18 UTSW 8 3,437,680 (GRCm39) missense possibly damaging 0.95
R2843:Arhgef18 UTSW 8 3,414,634 (GRCm39) missense possibly damaging 0.82
R2878:Arhgef18 UTSW 8 3,482,759 (GRCm39) missense probably benign
R3916:Arhgef18 UTSW 8 3,504,197 (GRCm39) missense probably benign
R4231:Arhgef18 UTSW 8 3,500,317 (GRCm39) missense possibly damaging 0.80
R4233:Arhgef18 UTSW 8 3,500,317 (GRCm39) missense possibly damaging 0.80
R4234:Arhgef18 UTSW 8 3,500,317 (GRCm39) missense possibly damaging 0.80
R4235:Arhgef18 UTSW 8 3,500,317 (GRCm39) missense possibly damaging 0.80
R4236:Arhgef18 UTSW 8 3,500,317 (GRCm39) missense possibly damaging 0.80
R4450:Arhgef18 UTSW 8 3,487,097 (GRCm39) missense probably damaging 0.97
R4539:Arhgef18 UTSW 8 3,497,070 (GRCm39) missense probably benign
R4670:Arhgef18 UTSW 8 3,484,897 (GRCm39) missense probably damaging 1.00
R4753:Arhgef18 UTSW 8 3,494,938 (GRCm39) missense probably damaging 1.00
R4897:Arhgef18 UTSW 8 3,494,979 (GRCm39) missense probably benign
R5313:Arhgef18 UTSW 8 3,501,629 (GRCm39) critical splice acceptor site probably null
R5319:Arhgef18 UTSW 8 3,435,010 (GRCm39) critical splice donor site probably null
R5415:Arhgef18 UTSW 8 3,438,075 (GRCm39) missense probably damaging 0.99
R5588:Arhgef18 UTSW 8 3,438,878 (GRCm39) utr 3 prime probably benign
R5698:Arhgef18 UTSW 8 3,489,499 (GRCm39) missense probably damaging 0.99
R5781:Arhgef18 UTSW 8 3,489,439 (GRCm39) splice site probably null
R5851:Arhgef18 UTSW 8 3,484,980 (GRCm39) missense probably damaging 1.00
R5897:Arhgef18 UTSW 8 3,489,682 (GRCm39) missense probably damaging 1.00
R5908:Arhgef18 UTSW 8 3,503,165 (GRCm39) missense probably damaging 1.00
R6123:Arhgef18 UTSW 8 3,487,091 (GRCm39) missense probably damaging 0.99
R6136:Arhgef18 UTSW 8 3,504,507 (GRCm39) missense probably benign
R6240:Arhgef18 UTSW 8 3,489,658 (GRCm39) missense probably damaging 1.00
R6455:Arhgef18 UTSW 8 3,438,753 (GRCm39) missense probably benign 0.16
R6617:Arhgef18 UTSW 8 3,489,592 (GRCm39) missense probably damaging 1.00
R7573:Arhgef18 UTSW 8 3,434,918 (GRCm39) missense probably damaging 0.96
R7575:Arhgef18 UTSW 8 3,501,635 (GRCm39) missense probably damaging 0.99
R7664:Arhgef18 UTSW 8 3,436,390 (GRCm39) missense probably damaging 0.98
R7731:Arhgef18 UTSW 8 3,434,936 (GRCm39) missense probably damaging 0.99
R7845:Arhgef18 UTSW 8 3,436,959 (GRCm39) missense probably damaging 0.99
R7851:Arhgef18 UTSW 8 3,498,409 (GRCm39) missense possibly damaging 0.46
R7947:Arhgef18 UTSW 8 3,482,775 (GRCm39) missense probably damaging 1.00
R8030:Arhgef18 UTSW 8 3,489,600 (GRCm39) missense probably damaging 1.00
R8167:Arhgef18 UTSW 8 3,403,636 (GRCm39) start gained probably benign
R8681:Arhgef18 UTSW 8 3,439,074 (GRCm39) missense unknown
R8798:Arhgef18 UTSW 8 3,414,645 (GRCm39) missense probably benign 0.01
R8815:Arhgef18 UTSW 8 3,430,410 (GRCm39) missense probably benign 0.01
R8825:Arhgef18 UTSW 8 3,436,951 (GRCm39) missense probably damaging 0.99
R8848:Arhgef18 UTSW 8 3,477,481 (GRCm39) missense probably benign 0.00
R9038:Arhgef18 UTSW 8 3,503,257 (GRCm39) missense probably benign 0.30
R9131:Arhgef18 UTSW 8 3,487,007 (GRCm39) missense possibly damaging 0.77
R9229:Arhgef18 UTSW 8 3,479,314 (GRCm39) missense probably benign 0.01
R9599:Arhgef18 UTSW 8 3,482,718 (GRCm39) missense possibly damaging 0.74
R9794:Arhgef18 UTSW 8 3,501,634 (GRCm39) missense probably benign 0.03
X0021:Arhgef18 UTSW 8 3,484,942 (GRCm39) missense probably damaging 1.00
Z1088:Arhgef18 UTSW 8 3,489,628 (GRCm39) missense probably damaging 1.00
Z1176:Arhgef18 UTSW 8 3,503,224 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCAAATCAACCATCCTACAATCTT -3'
(R):5'- GAACAAAGTGTAGTTGCTACCAGC -3'

Sequencing Primer
(F):5'- CTTTCATTAGTCAAGGGCCACAG -3'
(R):5'- ACCAGCATGGATATCATCTCCTG -3'
Posted On 2022-02-07