Incidental Mutation 'R4022:Sox1'
ID 313306
Institutional Source Beutler Lab
Gene Symbol Sox1
Ensembl Gene ENSMUSG00000096014
Gene Name SRY (sex determining region Y)-box 1
Synonyms Sox-1
MMRRC Submission 040956-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.376) question?
Stock # R4022 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 12445519-12449555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12446719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 120 (Y120C)
Ref Sequence ENSEMBL: ENSMUSP00000137203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180353]
AlphaFold P53783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000080795
SMART Domains Protein: ENSMUSP00000079612
Gene: ENSMUSG00000047935

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
low complexity region 61 75 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174915
Predicted Effect probably damaging
Transcript: ENSMUST00000180353
AA Change: Y120C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137203
Gene: ENSMUSG00000096014
AA Change: Y120C

DomainStartEndE-ValueType
low complexity region 26 43 N/A INTRINSIC
HMG 50 120 1.55e-27 SMART
transmembrane domain 135 157 N/A INTRINSIC
low complexity region 216 241 N/A INTRINSIC
low complexity region 267 316 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186174
Meta Mutation Damage Score 0.4558 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless 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 activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit lens opacity associated with a lack of gamma crystallin expression, microphthalmia, episodic seizures, sexual dysfunction, impaired maternal nurturing, and reduced lifespan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo T A 2: 26,733,812 (GRCm39) Y131F probably damaging Het
Adcy4 C T 14: 56,012,635 (GRCm39) probably null Het
Ago3 T A 4: 126,262,386 (GRCm39) N388I probably benign Het
Arfgef2 G T 2: 166,715,865 (GRCm39) V1385L probably benign Het
Camk2a A T 18: 61,097,000 (GRCm39) K28* probably null Het
Ccdc180 T A 4: 45,904,560 (GRCm39) Y385* probably null Het
Cd209g A T 8: 4,185,955 (GRCm39) Q46L possibly damaging Het
Cdh22 T C 2: 164,999,173 (GRCm39) T220A probably benign Het
Cltc A T 11: 86,611,174 (GRCm39) C562S probably damaging Het
Cyp2c55 T A 19: 39,023,878 (GRCm39) probably null Het
Cyp2d34 A G 15: 82,502,809 (GRCm39) V139A probably benign Het
Ddias G T 7: 92,510,686 (GRCm39) D105E possibly damaging Het
Dhx30 T C 9: 109,913,465 (GRCm39) D1223G possibly damaging Het
Dnajb11 A G 16: 22,688,196 (GRCm39) D238G probably damaging Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Erbb2 T G 11: 98,326,123 (GRCm39) C966W probably benign Het
Exoc1 C T 5: 76,697,417 (GRCm39) T405I possibly damaging Het
Fbxo28 T C 1: 182,157,475 (GRCm39) N108S possibly damaging Het
Fhdc1 T C 3: 84,352,409 (GRCm39) E157G probably benign Het
Gstcd C T 3: 132,787,829 (GRCm39) V290M probably damaging Het
Hps3 A G 3: 20,089,425 (GRCm39) V2A possibly damaging Het
Ilrun T C 17: 28,005,236 (GRCm39) E107G probably damaging Het
Itsn2 G A 12: 4,674,927 (GRCm39) R23H probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lax1 C T 1: 133,610,774 (GRCm39) G105S probably benign Het
Lin7c G T 2: 109,726,790 (GRCm39) probably null Het
Lrrn2 T C 1: 132,866,852 (GRCm39) V639A probably benign Het
Luzp1 T C 4: 136,269,504 (GRCm39) S576P probably benign Het
Mast4 G A 13: 102,875,829 (GRCm39) R1112* probably null Het
Mast4 G T 13: 102,990,377 (GRCm39) A48E probably damaging Het
Mat2a G A 6: 72,413,227 (GRCm39) R168C probably damaging Het
Megf8 T C 7: 25,037,200 (GRCm39) V700A probably damaging Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Myh2 G T 11: 67,070,230 (GRCm39) E421* probably null Het
Or12d2 T A 17: 37,625,165 (GRCm39) I37L probably benign Het
Or5k17 T C 16: 58,746,483 (GRCm39) I150M possibly damaging Het
Pecam1 T C 11: 106,545,986 (GRCm39) N693D probably benign Het
Ppip5k1 C T 2: 121,168,108 (GRCm39) R715H probably damaging Het
Prune2 A G 19: 16,977,384 (GRCm39) T40A probably damaging Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Reln T C 5: 22,432,628 (GRCm39) Q124R probably benign Het
Rnf17 C T 14: 56,697,458 (GRCm39) H451Y probably damaging Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Sall3 T A 18: 81,013,055 (GRCm39) E1127V probably benign Het
Sertad3 A G 7: 27,176,120 (GRCm39) N185D probably damaging Het
Spag17 A T 3: 99,956,546 (GRCm39) I881F probably benign Het
Spart G T 3: 55,025,157 (GRCm39) V251L probably damaging Het
Stard9 A G 2: 120,534,636 (GRCm39) E3631G probably benign Het
Syde2 A G 3: 145,721,480 (GRCm39) T848A probably benign Het
Tmem11 T C 11: 60,756,154 (GRCm39) D12G possibly damaging Het
Trim28 T C 7: 12,762,485 (GRCm39) probably benign Het
Tsen2 T A 6: 115,524,948 (GRCm39) V49E probably damaging Het
Tspan1 C T 4: 116,024,232 (GRCm39) M10I probably benign Het
Uncx A T 5: 139,532,444 (GRCm39) T170S probably damaging Het
Usp24 T C 4: 106,236,421 (GRCm39) probably benign Het
Vmn1r84 T C 7: 12,095,857 (GRCm39) I267V probably benign Het
Zfp488 T A 14: 33,693,110 (GRCm39) M18L probably benign Het
Other mutations in Sox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02323:Sox1 APN 8 12,446,692 (GRCm39) missense possibly damaging 0.66
IGL03073:Sox1 APN 8 12,446,625 (GRCm39) missense probably damaging 1.00
R0305:Sox1 UTSW 8 12,446,736 (GRCm39) missense probably damaging 0.99
R2258:Sox1 UTSW 8 12,446,927 (GRCm39) missense possibly damaging 0.77
R7140:Sox1 UTSW 8 12,447,405 (GRCm39) missense possibly damaging 0.65
R7502:Sox1 UTSW 8 12,446,913 (GRCm39) missense possibly damaging 0.91
R7651:Sox1 UTSW 8 12,446,686 (GRCm39) missense probably damaging 1.00
R7830:Sox1 UTSW 8 12,446,955 (GRCm39) missense probably damaging 0.96
R8244:Sox1 UTSW 8 12,446,468 (GRCm39) small deletion probably benign
R9229:Sox1 UTSW 8 12,447,390 (GRCm39) missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- CCAGATGTACAGCATGATGATGG -3'
(R):5'- TTAGCCCAGCCGTTGACATG -3'

Sequencing Primer
(F):5'- TGATGATGGAGACCGACCTGC -3'
(R):5'- CCGTTGACATGCGCGTAG -3'
Posted On 2015-04-30