Incidental Mutation 'R7056:Sox18'
ID 547904
Institutional Source Beutler Lab
Gene Symbol Sox18
Ensembl Gene ENSMUSG00000046470
Gene Name SRY (sex determining region Y)-box 18
Synonyms Sry-related HMG-box gene 18, Ragl
MMRRC Submission 045153-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7056 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 181311630-181313433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181313280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 12 (D12G)
Ref Sequence ENSEMBL: ENSMUSP00000062759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054491]
AlphaFold P43680
Predicted Effect probably damaging
Transcript: ENSMUST00000054491
AA Change: D12G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062759
Gene: ENSMUSG00000046470
AA Change: D12G

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
low complexity region 41 61 N/A INTRINSIC
HMG 78 148 4.08e-27 SMART
low complexity region 159 172 N/A INTRINSIC
Pfam:Sox_C_TAD 186 375 2.2e-52 PFAM
Meta Mutation Damage Score 0.0678 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for some mutant alleles show low prenatal viability and cardiovascular defects. Most mutants show darkened coats, reduced zigzag hairs and, depending on the allele, sparse abnormal hair and edema. Heterozygotes show similar or milder defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atr T A 9: 95,744,916 (GRCm39) S78T probably damaging Het
B2m T C 2: 121,981,465 (GRCm39) L60P probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cep350 A C 1: 155,724,373 (GRCm39) I3075S probably damaging Het
Cep97 A G 16: 55,725,935 (GRCm39) S651P probably damaging Het
Chrna5 C T 9: 54,888,985 (GRCm39) probably benign Het
Cog5 T C 12: 31,715,468 (GRCm39) V80A possibly damaging Het
Col9a2 G A 4: 120,906,913 (GRCm39) probably null Het
Cop1 C T 1: 159,077,647 (GRCm39) L161F probably damaging Het
Cyp4f17 A T 17: 32,746,846 (GRCm39) M383L possibly damaging Het
Dennd4a A G 9: 64,814,205 (GRCm39) D1474G possibly damaging Het
Dgkb A C 12: 38,150,492 (GRCm39) S100R probably benign Het
Dnah17 A G 11: 118,016,212 (GRCm39) V309A probably benign Het
Dner C A 1: 84,558,457 (GRCm39) R169L possibly damaging Het
Dus1l T C 11: 120,682,120 (GRCm39) E362G probably benign Het
Eed A T 7: 89,619,564 (GRCm39) S168T possibly damaging Het
Eif3a T A 19: 60,751,500 (GRCm39) probably null Het
Fam234b A G 6: 135,205,450 (GRCm39) S472G probably benign Het
Fbn2 T A 18: 58,209,798 (GRCm39) T1028S probably benign Het
Fbxw16 A G 9: 109,265,352 (GRCm39) V393A possibly damaging Het
Fig4 A T 10: 41,096,928 (GRCm39) L838Q probably benign Het
Gm13941 T G 2: 110,927,147 (GRCm39) S137R unknown Het
Gm9938 T G 19: 23,701,981 (GRCm39) probably benign Het
Igsf10 T G 3: 59,238,501 (GRCm39) D560A probably damaging Het
Lrrk2 T A 15: 91,659,198 (GRCm39) L1870* probably null Het
Mep1b T A 18: 21,224,247 (GRCm39) Y347N probably damaging Het
Mepce T C 5: 137,780,968 (GRCm39) N613D probably damaging Het
Mgat3 T G 15: 80,096,097 (GRCm39) L308R probably damaging Het
Morc2a A G 11: 3,625,925 (GRCm39) Y175C probably damaging Het
Necab2 A G 8: 120,178,878 (GRCm39) N98S probably benign Het
Net1 T C 13: 3,934,845 (GRCm39) M394V probably benign Het
Nfat5 G A 8: 108,094,738 (GRCm39) G993D probably damaging Het
Obscn C A 11: 58,887,122 (GRCm39) probably benign Het
Olr1 T C 6: 129,465,904 (GRCm39) H34R probably damaging Het
Or2ab1 A G 11: 58,489,044 (GRCm39) Y274C probably damaging Het
Or4f60 T C 2: 111,902,662 (GRCm39) N89D probably benign Het
Pmm2 T A 16: 8,460,628 (GRCm39) F27L probably damaging Het
Ptpdc1 C A 13: 48,740,466 (GRCm39) V261F possibly damaging Het
Pyroxd1 G T 6: 142,304,808 (GRCm39) R345L probably benign Het
Radil A T 5: 142,480,109 (GRCm39) C670* probably null Het
Rasgrf2 C T 13: 92,167,203 (GRCm39) S290N probably damaging Het
Rbm33 T C 5: 28,599,001 (GRCm39) probably benign Het
Rnf111 A T 9: 70,360,957 (GRCm39) S501R possibly damaging Het
Sel1l2 T A 2: 140,087,334 (GRCm39) I446F probably benign Het
Sh3pxd2b T C 11: 32,372,737 (GRCm39) S635P probably benign Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Smg1 T C 7: 117,745,623 (GRCm39) probably benign Het
Sorcs2 C A 5: 36,225,474 (GRCm39) D132Y probably damaging Het
Srsf4 G T 4: 131,628,004 (GRCm39) probably benign Het
Susd4 C A 1: 182,660,721 (GRCm39) T81N probably benign Het
Tmem256 G T 11: 69,729,416 (GRCm39) probably benign Het
Tor4a T C 2: 25,084,853 (GRCm39) H350R probably benign Het
Ugt2a3 T A 5: 87,484,953 (GRCm39) S24C probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r77 C T 7: 86,451,023 (GRCm39) T303I probably benign Het
Wdr70 T A 15: 7,913,877 (GRCm39) I591F possibly damaging Het
Wdr93 T C 7: 79,399,088 (GRCm39) I74T probably damaging Het
Zfp292 A T 4: 34,809,784 (GRCm39) C1087S probably damaging Het
Zfp592 T A 7: 80,673,067 (GRCm39) D10E probably damaging Het
Zfp69 A G 4: 120,788,295 (GRCm39) V340A probably benign Het
Zswim2 C T 2: 83,751,092 (GRCm39) probably null Het
Other mutations in Sox18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Sox18 APN 2 181,312,213 (GRCm39) missense probably benign
IGL01691:Sox18 APN 2 181,313,143 (GRCm39) missense possibly damaging 0.85
nandou UTSW 2 181,312,688 (GRCm39) missense probably damaging 1.00
R4473:Sox18 UTSW 2 181,312,669 (GRCm39) missense probably damaging 0.97
R4476:Sox18 UTSW 2 181,312,669 (GRCm39) missense probably damaging 0.97
R4710:Sox18 UTSW 2 181,312,688 (GRCm39) missense probably damaging 1.00
R4949:Sox18 UTSW 2 181,313,017 (GRCm39) nonsense probably null
R5249:Sox18 UTSW 2 181,312,971 (GRCm39) splice site probably null
R7083:Sox18 UTSW 2 181,312,165 (GRCm39) missense possibly damaging 0.88
R8109:Sox18 UTSW 2 181,313,293 (GRCm39) missense possibly damaging 0.68
R8284:Sox18 UTSW 2 181,312,751 (GRCm39) missense probably damaging 1.00
R9341:Sox18 UTSW 2 181,312,231 (GRCm39) missense probably damaging 0.99
R9343:Sox18 UTSW 2 181,312,231 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATCCGGATTTTGTTGCGCC -3'
(R):5'- TATCTGGGATGCCTTCCTGG -3'

Sequencing Primer
(F):5'- GCAACTCGTCGGCAGTTTG -3'
(R):5'- TTCCTGGCACGAAGCTACC -3'
Posted On 2019-05-13