Incidental Mutation 'R8284:Sox18'
ID 638361
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 067707-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8284 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 181311630-181313433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 181312751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 127 (P127S)
Ref Sequence ENSEMBL: ENSMUSP00000062759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054491]
AlphaFold P43680
Predicted Effect probably damaging
Transcript: ENSMUST00000054491
AA Change: P127S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062759
Gene: ENSMUSG00000046470
AA Change: P127S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (54/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 T C 10: 61,034,438 (GRCm39) Y1147C possibly damaging Het
Adgrf5 T A 17: 43,766,161 (GRCm39) S1328T unknown Het
Aff4 A G 11: 53,295,379 (GRCm39) K860E probably damaging Het
Aox1 A C 1: 58,115,250 (GRCm39) H745P probably damaging Het
Bpifc T C 10: 85,836,413 (GRCm39) T31A probably benign Het
C3 C A 17: 57,530,938 (GRCm39) V388L probably benign Het
Celsr3 G T 9: 108,723,612 (GRCm39) M2874I probably damaging Het
Cnga4 T A 7: 105,057,239 (GRCm39) D550E probably benign Het
Dhx8 A G 11: 101,648,455 (GRCm39) T918A probably damaging Het
Dnah14 A C 1: 181,601,376 (GRCm39) E3670A probably benign Het
Fbxo31 T C 8: 122,287,181 (GRCm39) I131V probably benign Het
Ftcd T C 10: 76,413,893 (GRCm39) V99A probably benign Het
Gucy2e A G 11: 69,123,177 (GRCm39) V471A probably benign Het
H60b T A 10: 22,162,971 (GRCm39) L182Q probably benign Het
Hbp1 G A 12: 31,987,625 (GRCm39) H188Y probably damaging Het
Itga4 C T 2: 79,151,783 (GRCm39) T862I probably benign Het
Kcnmb4 T A 10: 116,254,158 (GRCm39) K206N probably damaging Het
Klra4 A G 6: 130,042,243 (GRCm39) F8S possibly damaging Het
Mrpl2 C A 17: 46,958,435 (GRCm39) Y72* probably null Het
Nars2 C A 7: 96,600,845 (GRCm39) probably benign Het
Nup214 T C 2: 31,886,458 (GRCm39) S607P possibly damaging Het
Oas1d C T 5: 121,057,221 (GRCm39) R276* probably null Het
Or12d13 C T 17: 37,647,587 (GRCm39) V179I probably benign Het
Or1l8 T A 2: 36,818,018 (GRCm39) Y36F probably damaging Het
Or2t1 T A 14: 14,329,011 (GRCm38) L300Q possibly damaging Het
Or2y1b A G 11: 49,209,002 (GRCm39) T210A probably benign Het
Pex13 A G 11: 23,605,685 (GRCm39) S182P possibly damaging Het
Piwil4 G T 9: 14,638,774 (GRCm39) N297K probably benign Het
Plxna4 T C 6: 32,129,789 (GRCm39) T1845A probably benign Het
Pml T C 9: 58,136,643 (GRCm39) N579D probably benign Het
Ppl A G 16: 4,950,201 (GRCm39) S3P probably damaging Het
Pramel16 G T 4: 143,676,695 (GRCm39) D136E possibly damaging Het
Prss54 G A 8: 96,285,994 (GRCm39) Q360* probably null Het
Ralgps2 A G 1: 156,655,718 (GRCm39) I402T probably benign Het
Rnf213 T A 11: 119,318,909 (GRCm39) D1123E Het
Sdha A T 13: 74,479,416 (GRCm39) probably null Het
Senp8 G A 9: 59,644,814 (GRCm39) T114I Het
Setx C T 2: 29,035,348 (GRCm39) T611I possibly damaging Het
Shc1 T G 3: 89,329,215 (GRCm39) S20A possibly damaging Het
Slc15a1 T C 14: 121,727,275 (GRCm39) I98V probably benign Het
Snrk A G 9: 121,989,538 (GRCm39) E294G probably damaging Het
Spta1 A G 1: 174,007,387 (GRCm39) T206A probably benign Het
Tcfl5 A G 2: 180,280,330 (GRCm39) S358P probably benign Het
Tecta T A 9: 42,289,325 (GRCm39) L413F possibly damaging Het
Tlk1 T C 2: 70,544,365 (GRCm39) T757A probably benign Het
Tmem232 T A 17: 65,709,990 (GRCm39) I433F probably damaging Het
Top1mt T A 15: 75,539,712 (GRCm39) K300* probably null Het
Trbv20 C T 6: 41,165,782 (GRCm39) A69V probably damaging Het
Trim12a A T 7: 103,955,282 (GRCm39) L147Q probably damaging Het
Tuba8 G A 6: 121,199,736 (GRCm39) S140N probably damaging Het
Vcan A T 13: 89,852,454 (GRCm39) N835K possibly damaging Het
Xrcc1 G A 7: 24,271,703 (GRCm39) R562H probably damaging Het
Yipf7 C T 5: 69,674,539 (GRCm39) G202D probably benign Het
Ythdc1 T G 5: 86,964,325 (GRCm39) S45A probably benign Het
Zfp1002 T C 2: 150,097,276 (GRCm39) probably benign 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
R8109:Sox18 UTSW 2 181,313,293 (GRCm39) missense possibly damaging 0.68
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'- TAGTAGAGACCTGCGAGTGG -3'
(R):5'- TGAGAGCCTCGAATGCTTAG -3'

Sequencing Primer
(F):5'- CATAGGGTGCCCGGAAAGC -3'
(R):5'- CTCGAATGCTTAGAGGGGC -3'
Posted On 2020-07-28