Incidental Mutation 'R0759:Arhgef18'
ID 70008
Institutional Source Beutler Lab
Gene Symbol Arhgef18
Ensembl Gene ENSMUSG00000004568
Gene Name Rho/Rac guanine nucleotide exchange factor 18
Synonyms A430078G23Rik, D030053O22Rik
MMRRC Submission 038939-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0759 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 3403415-3506601 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to G at 3438822 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: I393S
SMART Domains Protein: ENSMUSP00000096566
Gene: ENSMUSG00000074497
AA Change: I393S

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: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.4%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,384,454 (GRCm39) F504I possibly damaging Het
Amdhd2 C A 17: 24,380,587 (GRCm39) C119F probably benign Het
Bsph2 A T 7: 13,290,652 (GRCm39) Y76N probably damaging Het
C1s1 T C 6: 124,508,396 (GRCm39) N531S probably damaging Het
Ces1c G A 8: 93,857,492 (GRCm39) Q30* probably null Het
Cltc A C 11: 86,627,908 (GRCm39) I80S probably null Het
Colec11 A G 12: 28,644,730 (GRCm39) S249P probably damaging Het
Cxcl16 C T 11: 70,349,954 (GRCm39) C24Y probably damaging Het
Dennd4c A G 4: 86,707,066 (GRCm39) I348V probably damaging Het
Elavl1 C A 8: 4,339,815 (GRCm39) D256Y probably damaging Het
Fubp1 TGGCGGCGGCGGCGGCGG TGGCGGCGGCGGCGGCGGCGG 3: 151,916,274 (GRCm39) probably benign Het
Gm43434 T G 14: 54,382,952 (GRCm39) probably benign Het
Il1a T A 2: 129,146,607 (GRCm39) D162V probably damaging Het
Map3k19 A G 1: 127,745,162 (GRCm39) Y1227H possibly damaging Het
Myb C T 10: 21,020,927 (GRCm39) V501I probably benign Het
Nav1 A G 1: 135,382,998 (GRCm39) I1238T possibly damaging Het
Nr0b2 A T 4: 133,281,049 (GRCm39) Q105L probably damaging Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Pdilt A T 7: 119,088,707 (GRCm39) Y431* probably null Het
Plg A G 17: 12,629,838 (GRCm39) H624R probably damaging Het
Ppl A G 16: 4,907,641 (GRCm39) S885P probably benign Het
Ptdss1 T C 13: 67,135,868 (GRCm39) L375P probably damaging Het
Rrm1 A G 7: 102,106,768 (GRCm39) D347G probably benign Het
Sbf1 A T 15: 89,188,919 (GRCm39) V573E probably damaging Het
Slc9a1 T A 4: 133,143,714 (GRCm39) I400N probably damaging Het
Slurp1 A G 15: 74,598,808 (GRCm39) F61S probably damaging Het
Smpd3 T C 8: 106,991,860 (GRCm39) E231G probably benign Het
Sned1 C T 1: 93,200,286 (GRCm39) T564M probably damaging Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Trim35 T A 14: 66,546,236 (GRCm39) D334E probably benign Het
Trp53i11 A G 2: 93,029,303 (GRCm39) T101A possibly damaging Het
Usp9y T C Y: 1,299,097 (GRCm39) N2514D probably damaging Het
Xpc A T 6: 91,475,124 (GRCm39) Y634N probably damaging Het
Zftraf1 A G 15: 76,530,385 (GRCm39) *312Q probably null 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
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
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'- GGACCCGTTGGGCACTGAAGA -3'
(R):5'- TCACACATTAAACCATGATGGAAAGGCA -3'

Sequencing Primer
(F):5'- CTGGACTCAGGCAGAGTATTTATC -3'
(R):5'- GCATACGAGGAAAGACTGCC -3'
Posted On 2013-09-30