Incidental Mutation 'R8109:Sox18'
ID 643850
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 067538-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8109 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 181311630-181313433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 181313293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 8 (Y8H)
Ref Sequence ENSEMBL: ENSMUSP00000062759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054491]
AlphaFold P43680
Predicted Effect possibly damaging
Transcript: ENSMUST00000054491
AA Change: Y8H

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062759
Gene: ENSMUSG00000046470
AA Change: Y8H

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 0.0939 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (47/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,767,284 (GRCm39) V130A probably benign Het
Acte1 C T 7: 143,451,203 (GRCm39) probably null Het
Adamts12 A C 15: 11,331,877 (GRCm39) K1465T probably benign Het
Adamtsl1 T C 4: 86,166,306 (GRCm39) V223A Het
Adamtsl3 T A 7: 82,251,487 (GRCm39) I1494N possibly damaging Het
Ank3 T C 10: 69,826,148 (GRCm39) Y1606H Het
Arhgap32 A G 9: 32,093,150 (GRCm39) I168V probably benign Het
Atxn7l2 G A 3: 108,110,617 (GRCm39) R675C probably damaging Het
Brcc3dc A G 10: 108,535,520 (GRCm39) M145T probably damaging Het
Bst2 A T 8: 71,989,990 (GRCm39) W28R probably damaging Het
Cadps T A 14: 12,488,975 (GRCm38) T861S probably benign Het
Ceacam11 A G 7: 17,709,243 (GRCm39) Y147C probably benign Het
Clasp2 T A 9: 113,740,588 (GRCm39) N1187K probably damaging Het
Dcaf7 T C 11: 105,937,604 (GRCm39) W76R probably damaging Het
Ephb1 G A 9: 101,918,222 (GRCm39) T429I probably damaging Het
Flg A T 3: 93,197,734 (GRCm39) Q21L unknown Het
Flrt2 T C 12: 95,747,333 (GRCm39) V557A probably benign Het
Gdpgp1 T C 7: 79,888,581 (GRCm39) V204A probably damaging Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Jph2 T C 2: 163,181,206 (GRCm39) K653E probably benign Het
Kmt2c T C 5: 25,486,382 (GRCm39) S4724G probably damaging Het
Llgl2 T C 11: 115,741,619 (GRCm39) V583A possibly damaging Het
Met T C 6: 17,562,236 (GRCm39) V1199A probably damaging Het
Mmp25 A G 17: 23,863,768 (GRCm39) W21R probably benign Het
Nsun4 A T 4: 115,909,040 (GRCm39) C507S probably benign Het
Or1j19 T A 2: 36,676,618 (GRCm39) M27K probably benign Het
Pard6g T C 18: 80,160,658 (GRCm39) V257A possibly damaging Het
Pcdh1 A G 18: 38,332,049 (GRCm39) V457A probably damaging Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Pdzd2 G A 15: 12,373,592 (GRCm39) S2181L probably benign Het
Plpp6 T A 19: 28,941,891 (GRCm39) M164K possibly damaging Het
Rhobtb2 C A 14: 70,038,080 (GRCm39) R60L probably damaging Het
Rsph10b A C 5: 143,922,348 (GRCm39) I845L probably benign Het
Sdf4 C T 4: 156,094,295 (GRCm39) A325V probably damaging Het
Slc4a3 A G 1: 75,528,448 (GRCm39) D481G possibly damaging Het
Smo A G 6: 29,755,522 (GRCm39) Y398C probably damaging Het
Sycp1 A T 3: 102,758,918 (GRCm39) S780T probably benign Het
Tdg T A 10: 82,480,353 (GRCm39) V239E probably damaging Het
Tenm2 T C 11: 35,899,137 (GRCm39) T2675A probably benign Het
Thrap3 C A 4: 126,080,273 (GRCm39) R31L unknown Het
Tinagl1 T A 4: 130,063,123 (GRCm39) I149F probably damaging Het
Tnc A G 4: 63,927,000 (GRCm39) V842A probably benign Het
Tpm3-rs7 A G 14: 113,552,772 (GRCm39) D222G probably benign Het
Ube4a T C 9: 44,846,781 (GRCm39) I773V probably benign Het
Vmn1r229 T C 17: 21,035,268 (GRCm39) V171A probably benign Het
Zc3hav1 T C 6: 38,306,114 (GRCm39) E646G probably damaging Het
Zfp341 A T 2: 154,469,820 (GRCm39) M168L probably benign Het
Zfp874a A C 13: 67,597,563 (GRCm39) D13E possibly damaging 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
R7056:Sox18 UTSW 2 181,313,280 (GRCm39) missense probably damaging 0.99
R7083:Sox18 UTSW 2 181,312,165 (GRCm39) missense possibly damaging 0.88
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'- CGGATTTTGTTGCGCCAGTC -3'
(R):5'- CTATATCTGGGATGCCTTCCTG -3'

Sequencing Primer
(F):5'- GCAACTCGTCGGCAGTTTG -3'
(R):5'- TTCCTGGCACGAAGCTACC -3'
Posted On 2020-09-02