Incidental Mutation 'R0980:Arhgef18'
ID 97005
Institutional Source Beutler Lab
Gene Symbol Arhgef18
Ensembl Gene ENSMUSG00000004568
Gene Name Rho/Rac guanine nucleotide exchange factor 18
Synonyms A430078G23Rik, D030053O22Rik
MMRRC Submission 039106-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0980 (G1)
Quality Score 214
Status Not validated
Chromosome 8
Chromosomal Location 3403415-3506601 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) C to T at 3439095 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004684] [ENSMUST00000098966] [ENSMUST00000145394] [ENSMUST00000208363]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000004684
SMART Domains Protein: ENSMUSP00000004684
Gene: ENSMUSG00000004568

DomainStartEndE-ValueType
RhoGEF 105 297 2.62e-58 SMART
PH 340 443 5.57e-12 SMART
low complexity region 446 456 N/A INTRINSIC
low complexity region 646 663 N/A INTRINSIC
coiled coil region 697 800 N/A INTRINSIC
low complexity region 887 897 N/A INTRINSIC
low complexity region 905 919 N/A INTRINSIC
low complexity region 963 985 N/A INTRINSIC
low complexity region 991 1010 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000098966
AA Change: T484I
SMART Domains Protein: ENSMUSP00000096566
Gene: ENSMUSG00000074497
AA Change: T484I

DomainStartEndE-ValueType
low complexity region 116 134 N/A INTRINSIC
low complexity region 291 308 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131773
Predicted Effect probably benign
Transcript: ENSMUST00000145394
Predicted Effect probably benign
Transcript: ENSMUST00000208363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208845
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 89.2%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankdd1a T C 9: 65,424,253 (GRCm39) H20R probably damaging Het
Arfgef3 T C 10: 18,467,866 (GRCm39) E1778G possibly damaging Het
Blm A T 7: 80,149,706 (GRCm39) probably null Het
Ccr6 A G 17: 8,474,846 (GRCm39) E17G probably benign Het
Cep126 T C 9: 8,100,720 (GRCm39) T605A probably damaging Het
Cnga4 C A 7: 105,057,213 (GRCm39) P439T probably damaging Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Cyp2a5 A G 7: 26,538,431 (GRCm39) probably null Het
D430041D05Rik A G 2: 104,079,690 (GRCm39) V1131A probably damaging Het
Elp3 T C 14: 65,815,402 (GRCm39) T197A probably damaging Het
Etl4 A G 2: 20,806,378 (GRCm39) D1200G probably damaging Het
Gapt G C 13: 110,490,273 (GRCm39) T130R probably damaging Het
Gprin1 T C 13: 54,888,214 (GRCm39) D20G possibly damaging Het
Hltf T C 3: 20,145,665 (GRCm39) S432P probably benign Het
Immt T C 6: 71,851,310 (GRCm39) V54A probably benign Het
Jhy T G 9: 40,856,133 (GRCm39) Y118S possibly damaging Het
Kif23 C A 9: 61,844,046 (GRCm39) K154N possibly damaging Het
Krt79 T C 15: 101,846,442 (GRCm39) T169A probably damaging Het
Llgl2 A G 11: 115,740,827 (GRCm39) E443G probably damaging Het
Ltbp4 A T 7: 27,023,587 (GRCm39) C786S probably damaging Het
Mme A T 3: 63,247,550 (GRCm39) E278D probably benign Het
Nt5c2 G T 19: 46,887,317 (GRCm39) Q162K probably benign Het
Obscn A G 11: 58,888,887 (GRCm39) V2109A possibly damaging Het
Or5p64 GGTAG GG 7: 107,855,229 (GRCm39) probably benign Het
Or8k28 T C 2: 86,285,704 (GRCm39) T304A probably benign Het
Or8k38 T A 2: 86,488,209 (GRCm39) I198L probably benign Het
Osmr G T 15: 6,881,921 (GRCm39) N74K probably benign Het
Pes1 AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 11: 3,927,636 (GRCm39) probably benign Het
Pgd A T 4: 149,238,768 (GRCm39) probably null Het
Pld1 T A 3: 28,178,724 (GRCm39) S873T probably damaging Het
Polk A T 13: 96,620,272 (GRCm39) C664S probably benign Het
Proca1 A C 11: 78,095,773 (GRCm39) H135P probably benign Het
Ptgs2 A C 1: 149,980,061 (GRCm39) D333A probably damaging Het
Rexo5 T C 7: 119,423,035 (GRCm39) V289A probably damaging Het
Rnf125 T A 18: 21,112,117 (GRCm39) C49* probably null Het
Rprd2 C A 3: 95,673,216 (GRCm39) R729L probably damaging Het
Sipa1l1 A G 12: 82,388,994 (GRCm39) S407G possibly damaging Het
Slc35a4 C A 18: 36,815,834 (GRCm39) N221K probably damaging Het
Sorcs1 T C 19: 50,220,761 (GRCm39) D563G probably benign Het
Stk39 G T 2: 68,222,515 (GRCm39) T183K probably damaging Het
Tc2n T A 12: 101,644,835 (GRCm39) K264* probably null Het
Trim23 C T 13: 104,324,635 (GRCm39) R238W probably damaging Het
Trim66 C A 7: 109,054,877 (GRCm39) V1240L probably damaging Het
Ttn T C 2: 76,584,389 (GRCm39) T13913A probably damaging Het
Ubap1 T G 4: 41,379,832 (GRCm39) C349G probably damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging 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
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
R9162:Arhgef18 UTSW 8 3,414,645 (GRCm39) missense probably benign 0.18
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'- AAGCTTGGCAGTCTTTCCTCGTATGCCT -3'
(R):5'- AGCCCAGCCTTGCCTAGCAGTTTT -3'

Sequencing Primer
(F):5'- TCCTCGTATGCCTTTCCATC -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2014-01-05