Incidental Mutation 'IGL02323:Sox1'
ID 288345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox1
Ensembl Gene ENSMUSG00000096014
Gene Name SRY (sex determining region Y)-box 1
Synonyms Sox-1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.376) question?
Stock # IGL02323
Quality Score
Status
Chromosome 8
Chromosomal Location 12445519-12449555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12446692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 111 (H111R)
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 possibly damaging
Transcript: ENSMUST00000180353
AA Change: H111R

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137203
Gene: ENSMUSG00000096014
AA Change: H111R

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
Coding Region Coverage
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,289,326 (GRCm39) E344G probably damaging Het
Actrt2 T C 4: 154,751,255 (GRCm39) T294A probably benign Het
Afg1l C A 10: 42,330,506 (GRCm39) E54* probably null Het
Ahi1 T C 10: 20,847,933 (GRCm39) I447T probably damaging Het
Akap6 T C 12: 53,187,212 (GRCm39) I1542T probably benign Het
Ankrd34c A C 9: 89,612,033 (GRCm39) S103A possibly damaging Het
Apc C T 18: 34,448,863 (GRCm39) Q1886* probably null Het
Bcas3 A G 11: 85,386,671 (GRCm39) T148A probably damaging Het
Bud13 A G 9: 46,194,350 (GRCm39) T8A probably benign Het
Casr A T 16: 36,330,072 (GRCm39) Y421N probably damaging Het
Ccdc121rt2 A G 5: 112,597,600 (GRCm39) Y49C probably benign Het
Clasp2 T C 9: 113,697,794 (GRCm39) probably benign Het
Clca4b T C 3: 144,619,082 (GRCm39) T686A probably benign Het
Cntln T A 4: 84,968,026 (GRCm39) H748Q probably benign Het
Dmtf1 A T 5: 9,170,056 (GRCm39) D683E possibly damaging Het
Dnmt3l A G 10: 77,899,152 (GRCm39) K117R probably damaging Het
Eif2a T C 3: 58,456,024 (GRCm39) M341T possibly damaging Het
Epg5 T A 18: 78,056,047 (GRCm39) Y1740* probably null Het
Fam149b C T 14: 20,413,369 (GRCm39) T157I possibly damaging Het
Fam89b A G 19: 5,778,899 (GRCm39) probably null Het
Fbxo3 T A 2: 103,878,296 (GRCm39) N232K probably benign Het
Gnl3 A C 14: 30,739,359 (GRCm39) H16Q probably damaging Het
Gpld1 T G 13: 25,166,757 (GRCm39) V669G probably damaging Het
Grik3 A G 4: 125,579,783 (GRCm39) probably benign Het
Gzmg A C 14: 56,394,729 (GRCm39) Y180D probably benign Het
H2-M9 A T 17: 36,951,633 (GRCm39) Y281N probably damaging Het
Katnip T A 7: 125,442,001 (GRCm39) S637T probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mrs2 T A 13: 25,188,940 (GRCm39) I125F probably damaging Het
Nfam1 T A 15: 82,907,152 (GRCm39) N15I probably benign Het
Nol8 T A 13: 49,808,721 (GRCm39) probably benign Het
Obscn A G 11: 58,899,348 (GRCm39) V6483A possibly damaging Het
Or2a56 A T 6: 42,932,917 (GRCm39) I162F probably benign Het
Osbpl3 A G 6: 50,323,306 (GRCm39) probably null Het
Plaat3 G A 19: 7,552,357 (GRCm39) W24* probably null Het
Ppfibp2 A T 7: 107,337,836 (GRCm39) Q652H probably damaging Het
Rbm47 A G 5: 66,183,772 (GRCm39) V277A probably damaging Het
Robo3 G A 9: 37,333,497 (GRCm39) A716V probably benign Het
Scart1 G T 7: 139,808,572 (GRCm39) A828S probably benign Het
Semp2l1 A T 1: 32,584,785 (GRCm39) L375* probably null Het
Slc29a4 A G 5: 142,703,407 (GRCm39) E227G probably damaging Het
Slf1 T C 13: 77,199,413 (GRCm39) D656G possibly damaging Het
Spmip9 A G 6: 70,890,679 (GRCm39) probably benign Het
Svep1 G A 4: 58,070,236 (GRCm39) Q2517* probably null Het
Syndig1 G T 2: 149,741,707 (GRCm39) V98L probably benign Het
Synpo2 T C 3: 122,911,183 (GRCm39) E154G probably benign Het
Tkt G A 14: 30,292,992 (GRCm39) G490S possibly damaging Het
Tmem200a T C 10: 25,869,328 (GRCm39) N314D probably benign Het
Tnfaip8l1 A T 17: 56,479,009 (GRCm39) T100S probably damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Trim12c C T 7: 103,997,473 (GRCm39) A28T probably benign Het
Trpc7 C A 13: 56,931,564 (GRCm39) V595L possibly damaging Het
Ttc39c A G 18: 12,869,800 (GRCm39) R575G probably null Het
Ttn T G 2: 76,681,919 (GRCm39) probably benign Het
Ttn C T 2: 76,553,609 (GRCm39) V31003M probably damaging Het
Ugt2b37 A T 5: 87,398,423 (GRCm39) probably benign Het
Uqcrb A T 13: 67,050,874 (GRCm39) probably benign Het
Usp33 T A 3: 152,076,024 (GRCm39) W415R probably benign Het
Vmn2r110 A T 17: 20,816,399 (GRCm39) D41E probably damaging Het
Vmn2r98 A T 17: 19,286,113 (GRCm39) I204F probably damaging Het
Other mutations in Sox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16