Incidental Mutation 'IGL03334:Arhgef18'
ID 416976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef18
Ensembl Gene ENSMUSG00000004568
Gene Name Rho/Rac guanine nucleotide exchange factor 18
Synonyms A430078G23Rik, D030053O22Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03334
Quality Score
Status
Chromosome 8
Chromosomal Location 3403415-3506601 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3438023 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 286 (I286F)
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: I286F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000096566
Gene: ENSMUSG00000074497
AA Change: I286F

DomainStartEndE-ValueType
low complexity region 116 134 N/A INTRINSIC
low complexity region 291 308 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131773
Predicted Effect probably benign
Transcript: ENSMUST00000208363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208845
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,838,302 (GRCm39) F762L probably benign Het
Angpt1 T A 15: 42,359,808 (GRCm39) E208V possibly damaging Het
Arhgef5 T C 6: 43,250,934 (GRCm39) S562P possibly damaging Het
Asb6 T C 2: 30,714,496 (GRCm39) T205A probably benign Het
B4galnt4 G A 7: 140,647,354 (GRCm39) probably null Het
Clca4a A T 3: 144,659,627 (GRCm39) M743K probably benign Het
Col14a1 T C 15: 55,312,217 (GRCm39) probably benign Het
Col27a1 A T 4: 63,232,959 (GRCm39) Y359F probably damaging Het
Dhcr7 T A 7: 143,394,234 (GRCm39) V125D possibly damaging Het
Ercc3 T C 18: 32,373,890 (GRCm39) probably null Het
Fnbp1l A G 3: 122,351,598 (GRCm39) V315A probably benign Het
Gm17174 T A 14: 51,829,420 (GRCm39) R48* probably null Het
Golga4 C T 9: 118,366,301 (GRCm39) probably benign Het
Grin1 C T 2: 25,188,405 (GRCm39) probably null Het
Ifi203 T A 1: 173,765,401 (GRCm39) K58* probably null Het
Ighv2-9-1 A G 12: 113,733,543 (GRCm39) S93P probably benign Het
Il27ra A G 8: 84,757,751 (GRCm39) V594A probably benign Het
Krr1 T G 10: 111,815,959 (GRCm39) S275R probably benign Het
Lars1 T C 18: 42,354,571 (GRCm39) D792G probably benign Het
Myo1f G A 17: 33,817,168 (GRCm39) R737H probably damaging Het
Nebl T A 2: 17,418,522 (GRCm39) H292L probably damaging Het
Nell1 C A 7: 49,712,359 (GRCm39) probably null Het
Nktr T C 9: 121,577,242 (GRCm39) F412L probably benign Het
Nlrp3 T A 11: 59,439,842 (GRCm39) I473N probably damaging Het
Or1j10 T C 2: 36,267,063 (GRCm39) Y92H possibly damaging Het
Phf3 A G 1: 30,844,810 (GRCm39) V1383A probably damaging Het
Prss48 T C 3: 85,904,625 (GRCm39) E191G probably damaging Het
Psg25 T A 7: 18,263,699 (GRCm39) L41F probably benign Het
Sema3b A G 9: 107,481,276 (GRCm39) L78P probably damaging Het
Spen G T 4: 141,197,280 (GRCm39) N3496K probably damaging Het
Tbk1 A T 10: 121,420,104 (GRCm39) H28Q possibly damaging Het
Trpv3 T A 11: 73,172,491 (GRCm39) probably benign Het
Vmn1r218 T C 13: 23,320,788 (GRCm39) L45P probably damaging Het
Vmn2r35 T A 7: 7,789,493 (GRCm39) Y748F probably damaging Het
Vps18 C T 2: 119,127,963 (GRCm39) R929W probably damaging Het
Xpnpep1 T C 19: 52,998,577 (GRCm39) K224E probably damaging Het
Zbed5 T A 5: 129,931,196 (GRCm39) F382I 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
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
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
Posted On 2016-08-02