Incidental Mutation 'R1649:Arhgef18'
ID 174102
Institutional Source Beutler Lab
Gene Symbol Arhgef18
Ensembl Gene ENSMUSG00000004568
Gene Name Rho/Rac guanine nucleotide exchange factor 18
Synonyms A430078G23Rik, D030053O22Rik
MMRRC Submission 039685-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1649 (G1)
Quality Score 223
Status Not validated
Chromosome 8
Chromosomal Location 3403415-3506601 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) A to G at 3439094 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: T484A
SMART Domains Protein: ENSMUSP00000096566
Gene: ENSMUSG00000074497
AA Change: T484A

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: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 88.1%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1a1 T A 4: 116,495,217 (GRCm39) I261F probably damaging Het
Aldh1l1 T C 6: 90,541,371 (GRCm39) V255A probably benign Het
Ambn T A 5: 88,612,340 (GRCm39) M172K probably benign Het
BC034090 T C 1: 155,101,319 (GRCm39) H315R possibly damaging Het
Btaf1 T A 19: 36,959,122 (GRCm39) D707E probably benign Het
C6 T C 15: 4,764,739 (GRCm39) L145P possibly damaging Het
Cav3 T A 6: 112,449,207 (GRCm39) L75Q probably damaging Het
Cavin2 T A 1: 51,339,939 (GRCm39) D205E probably benign Het
Cdadc1 T C 14: 59,811,242 (GRCm39) T423A probably damaging Het
Cep120 A T 18: 53,857,648 (GRCm39) H272Q probably damaging Het
Chd9 A T 8: 91,659,229 (GRCm39) Q63L possibly damaging Het
Clspn T C 4: 126,460,228 (GRCm39) probably benign Het
Cramp1 G T 17: 25,202,217 (GRCm39) H422N probably damaging Het
Csn1s2b A T 5: 87,966,943 (GRCm39) M71L probably benign Het
D630045J12Rik C A 6: 38,158,366 (GRCm39) A1104S probably damaging Het
D930048N14Rik A G 11: 51,545,663 (GRCm39) probably benign Het
Ern2 G A 7: 121,776,623 (GRCm39) P366S probably damaging Het
Gm1527 T C 3: 28,952,880 (GRCm39) I60T probably damaging Het
Gse1 T C 8: 121,305,254 (GRCm39) probably benign Het
Ildr1 T C 16: 36,528,681 (GRCm39) L42P probably damaging Het
Itih2 G A 2: 10,110,546 (GRCm39) T515I probably benign Het
Jcad C A 18: 4,673,309 (GRCm39) P357Q probably damaging Het
Kitl A G 10: 99,899,976 (GRCm39) T94A probably benign Het
Klri1 C T 6: 129,675,204 (GRCm39) M185I probably benign Het
Lsamp A T 16: 41,775,661 (GRCm39) M171L probably benign Het
Macf1 T G 4: 123,377,846 (GRCm39) I1460L probably damaging Het
Map1b C G 13: 99,652,986 (GRCm39) V4L probably benign Het
Mboat7 A T 7: 3,688,817 (GRCm39) V237D probably benign Het
Mctp2 A T 7: 71,811,006 (GRCm39) I656K probably damaging Het
Ms4a6b A G 19: 11,497,806 (GRCm39) D35G possibly damaging Het
Nipsnap2 T A 5: 129,830,301 (GRCm39) I205N probably damaging Het
Nsd2 T C 5: 34,011,984 (GRCm39) V264A probably damaging Het
Oacyl C T 18: 65,883,167 (GRCm39) T582I probably damaging Het
Olfm1 A T 2: 28,119,279 (GRCm39) T333S possibly damaging Het
Olfm4 G A 14: 80,249,422 (GRCm39) E180K probably damaging Het
Or14j6 T C 17: 38,215,060 (GRCm39) F208L probably benign Het
Or2ad1 A T 13: 21,326,912 (GRCm39) L105Q probably damaging Het
Or8g17 T G 9: 38,930,776 (GRCm39) Q20H probably benign Het
Parp4 T A 14: 56,827,885 (GRCm39) V212E possibly damaging Het
Pcdhb21 T A 18: 37,648,666 (GRCm39) N598K probably damaging Het
Piezo2 C A 18: 63,250,743 (GRCm39) W452L probably benign Het
Plec C A 15: 76,090,011 (GRCm39) A110S possibly damaging Het
Popdc3 T C 10: 45,191,320 (GRCm39) Y144H probably damaging Het
Ptgdr T C 14: 45,095,959 (GRCm39) H251R probably benign Het
Ptpro T A 6: 137,421,015 (GRCm39) Y246* probably null Het
Pyroxd2 T C 19: 42,726,573 (GRCm39) D247G probably damaging Het
Robo2 T C 16: 73,695,889 (GRCm39) E1418G probably benign Het
Rtp3 T C 9: 110,815,772 (GRCm39) T198A probably benign Het
Sec16a A T 2: 26,315,536 (GRCm39) V1767D probably damaging Het
Septin14 T C 5: 129,774,819 (GRCm39) N119D probably benign Het
Serpina5 A T 12: 104,071,484 (GRCm39) T364S possibly damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Sh3bp2 C T 5: 34,716,348 (GRCm39) A253V possibly damaging Het
Slc6a5 G T 7: 49,586,010 (GRCm39) G443C probably damaging Het
Spag9 T A 11: 93,999,278 (GRCm39) probably null Het
Sptbn1 T C 11: 30,087,301 (GRCm39) E1033G probably damaging Het
Timm17a T G 1: 135,237,540 (GRCm39) Q39P probably damaging Het
Tmem26 A T 10: 68,587,103 (GRCm39) T184S probably damaging Het
Tpi1 A T 6: 124,789,891 (GRCm39) probably null Het
Tssk5 T C 15: 76,258,003 (GRCm39) Y118C possibly damaging Het
Ttll4 T A 1: 74,736,629 (GRCm39) L1118Q possibly damaging Het
Ttll5 T A 12: 85,969,788 (GRCm39) L691Q probably damaging Het
Vmn1r49 A T 6: 90,049,623 (GRCm39) H126Q possibly damaging Het
Zfp518b A T 5: 38,829,224 (GRCm39) V927E probably damaging Het
Zfp618 T C 4: 63,013,774 (GRCm39) F213S probably damaging Het
Zfp759 T A 13: 67,287,668 (GRCm39) N406K 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
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'- CGTGACAGCATCATCCTACAATGTTCTT -3'
(R):5'- CCCTTCTCTTATTGCAGAATAAGCCCAT -3'

Sequencing Primer
(F):5'- GCACTTAAAGGTGCTCGTG -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2014-04-24