Incidental Mutation 'R0305:Sox1'
ID 65369
Institutional Source Beutler Lab
Gene Symbol Sox1
Ensembl Gene ENSMUSG00000096014
Gene Name SRY (sex determining region Y)-box 1
Synonyms Sox-1
MMRRC Submission 038516-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.376) question?
Stock # R0305 (G1)
Quality Score 135
Status Validated
Chromosome 8
Chromosomal Location 12445519-12449555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12446736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 126 (T126S)
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: T126S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137203
Gene: ENSMUSG00000096014
AA Change: T126S

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 0.0745 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 91.2%
Validation Efficiency 100% (59/59)
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
2310022A10Rik G A 7: 27,274,061 (GRCm39) R183Q probably damaging Het
Abca5 A G 11: 110,164,137 (GRCm39) probably benign Het
Ada T C 2: 163,570,077 (GRCm39) K312R probably benign Het
Adam21 C A 12: 81,607,059 (GRCm39) K234N possibly damaging Het
Afdn T A 17: 14,108,776 (GRCm39) probably null Het
Aimp1 T G 3: 132,379,747 (GRCm39) K132Q possibly damaging Het
Aldh16a1 C T 7: 44,797,403 (GRCm39) R135Q probably damaging Het
Alox12b A T 11: 69,058,205 (GRCm39) Y519F probably benign Het
Alppl2 T C 1: 87,017,324 (GRCm39) E25G probably benign Het
Apob A T 12: 8,062,210 (GRCm39) N3531I probably damaging Het
Arhgap23 T C 11: 97,391,935 (GRCm39) L321P probably damaging Het
Cab39l C T 14: 59,757,028 (GRCm39) Q137* probably null Het
Cenpo A T 12: 4,266,660 (GRCm39) H149Q possibly damaging Het
Cpt1a A G 19: 3,428,455 (GRCm39) T610A probably benign Het
Dcbld2 A G 16: 58,269,302 (GRCm39) T271A probably damaging Het
Dcps A G 9: 35,087,065 (GRCm39) probably null Het
Dnai2 A G 11: 114,643,720 (GRCm39) D462G probably benign Het
Dsg2 T A 18: 20,715,752 (GRCm39) probably benign Het
Eomes A T 9: 118,313,825 (GRCm39) E623D probably benign Het
Fras1 A T 5: 96,744,747 (GRCm39) H594L probably benign Het
Gad1-ps T G 10: 99,280,665 (GRCm39) noncoding transcript Het
Galk2 A G 2: 125,729,808 (GRCm39) Y63C probably damaging Het
H2-T10 A G 17: 36,430,260 (GRCm39) L227P probably damaging Het
Itgb4 T G 11: 115,870,238 (GRCm39) C73G probably damaging Het
Itpr2 T C 6: 146,212,601 (GRCm39) H1472R possibly damaging Het
Kcnh5 C T 12: 75,161,171 (GRCm39) A246T probably benign Het
Kpna6 G T 4: 129,543,042 (GRCm39) R458S probably benign Het
Lifr A G 15: 7,206,982 (GRCm39) T498A probably damaging Het
Lrrd1 T G 5: 3,915,707 (GRCm39) I768S probably damaging Het
Map2 T C 1: 66,452,253 (GRCm39) V223A probably benign Het
Nod2 G A 8: 89,391,951 (GRCm39) A731T probably damaging Het
Nrxn2 G A 19: 6,569,313 (GRCm39) C1403Y probably damaging Het
Nxph1 A T 6: 9,247,754 (GRCm39) I242F probably damaging Het
Or5p79 G A 7: 108,221,792 (GRCm39) V258I probably benign Het
Pgr A G 9: 8,902,088 (GRCm39) probably benign Het
Pik3cb A G 9: 98,946,129 (GRCm39) S566P possibly damaging Het
Sema4d T C 13: 51,866,764 (GRCm39) Y242C probably damaging Het
Sftpc T A 14: 70,761,518 (GRCm39) probably benign Het
Sh3tc1 T G 5: 35,881,343 (GRCm39) E33D probably benign Het
Slc17a5 A G 9: 78,464,819 (GRCm39) L344P probably benign Het
Slc39a5 T A 10: 128,234,265 (GRCm39) probably benign Het
Slc7a13 C A 4: 19,839,401 (GRCm39) H335N probably benign Het
Slco1a4 A C 6: 141,763,479 (GRCm39) N412K possibly damaging Het
Specc1l T A 10: 75,081,663 (GRCm39) V353E probably damaging Het
Stat5b T C 11: 100,693,329 (GRCm39) E104G probably benign Het
Sult4a1 A G 15: 83,970,868 (GRCm39) V179A probably damaging Het
Tafa5 T A 15: 87,604,709 (GRCm39) I83N probably damaging Het
Tbl3 G A 17: 24,924,435 (GRCm39) R134C probably damaging Het
Tmem256 T A 11: 69,729,737 (GRCm39) probably benign Het
Tmigd1 A G 11: 76,797,960 (GRCm39) T101A probably damaging Het
Unc5b C A 10: 60,615,437 (GRCm39) probably benign Het
Unc79 T A 12: 103,079,459 (GRCm39) S1679T probably benign Het
Vmn2r1 T G 3: 63,997,087 (GRCm39) C248G probably damaging Het
Vmn2r57 T C 7: 41,076,967 (GRCm39) I400V probably benign Het
Vwa8 T A 14: 79,246,713 (GRCm39) L685H probably damaging Het
Yeats4 A G 10: 117,051,741 (GRCm39) F172S probably damaging Het
Zfpm2 T G 15: 40,637,431 (GRCm39) 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
R2258:Sox1 UTSW 8 12,446,927 (GRCm39) missense possibly damaging 0.77
R4022:Sox1 UTSW 8 12,446,719 (GRCm39) missense probably damaging 1.00
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'- ATGAACGCCTTCATGGTGTGGTCC -3'
(R):5'- ATGTAGCCCTGAGAGTTGGAGATGG -3'

Sequencing Primer
(F):5'- GACAGCGGCGCAAGATG -3'
(R):5'- cccagccgttgacatgc -3'
Posted On 2013-08-08