Incidental Mutation 'IGL02294:Sox21'
ID 290133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sox21
Ensembl Gene ENSMUSG00000061517
Gene Name SRY (sex determining region Y)-box 21
Synonyms Sox25
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # IGL02294
Quality Score
Status
Chromosome 14
Chromosomal Location 118470645-118474442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118472950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 33 (M33T)
Ref Sequence ENSEMBL: ENSMUSP00000127396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170662]
AlphaFold Q811W0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164755
Predicted Effect probably benign
Transcript: ENSMUST00000170662
AA Change: M33T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000127396
Gene: ENSMUSG00000061517
AA Change: M33T

DomainStartEndE-ValueType
HMG 7 77 8.41e-29 SMART
low complexity region 110 125 N/A INTRINSIC
low complexity region 137 166 N/A INTRINSIC
low complexity region 183 197 N/A INTRINSIC
low complexity region 200 221 N/A INTRINSIC
low complexity region 267 275 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SRY-related HMG-box (SOX) genes encode a family of DNA-binding proteins containing a 79-amino acid HMG (high mobility group) domain that shares at least 50% sequence identity with the DNA-binding HMG box of the SRY protein (MIM 480000). SOX proteins are divided into 6 subgroups based on sequence similarity within and outside of the HMG domain. For additional background information on SOX genes, see SOX1 (MIM 602148).[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for a null mutation display cyclic alopecia, epidermal hyperplasia, enlarged sebaceous glands, and hair shaft and cuticle abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 A G 18: 65,439,146 (GRCm39) V749A possibly damaging Het
Col6a4 T C 9: 105,943,931 (GRCm39) D1181G probably benign Het
Crb1 A G 1: 139,162,520 (GRCm39) S1213P possibly damaging Het
D430041D05Rik A T 2: 104,085,351 (GRCm39) M1066K probably benign Het
Fasn G T 11: 120,701,102 (GRCm39) T1999N probably damaging Het
Flg2 C T 3: 93,111,053 (GRCm39) A1027V unknown Het
Gbp5 T A 3: 142,209,588 (GRCm39) V178E probably damaging Het
Hdac4 T C 1: 91,909,929 (GRCm39) D445G probably benign Het
Hps3 T C 3: 20,068,212 (GRCm39) E482G probably damaging Het
Impdh1 G A 6: 29,205,201 (GRCm39) A200V probably benign Het
Kdm2b T C 5: 123,099,537 (GRCm39) Y134C probably damaging Het
Ly6g T A 15: 75,030,413 (GRCm39) I77N possibly damaging Het
Oprk1 T G 1: 5,672,610 (GRCm39) M249R probably damaging Het
Or5ac21 T C 16: 59,123,975 (GRCm39) L153P probably damaging Het
Or5h17 T C 16: 58,820,428 (GRCm39) C127R probably damaging Het
Otud4 A G 8: 80,391,606 (GRCm39) probably benign Het
Slc16a4 T C 3: 107,208,384 (GRCm39) I298T probably benign Het
Speer4a1 T A 5: 26,243,240 (GRCm39) T82S probably benign Het
Stard13 T C 5: 150,986,580 (GRCm39) D310G probably benign Het
Trpm6 C A 19: 18,831,427 (GRCm39) Q1431K probably benign Het
Ufl1 T A 4: 25,259,281 (GRCm39) K446* probably null Het
Vmn2r19 A G 6: 123,306,937 (GRCm39) T482A probably benign Het
Other mutations in Sox21
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0027:Sox21 UTSW 14 118,473,029 (GRCm39) missense probably benign 0.33
R0157:Sox21 UTSW 14 118,473,354 (GRCm39) start gained probably benign
R2980:Sox21 UTSW 14 118,472,962 (GRCm39) missense probably damaging 0.96
R3716:Sox21 UTSW 14 118,472,842 (GRCm39) missense probably benign 0.05
R3827:Sox21 UTSW 14 118,472,870 (GRCm39) missense possibly damaging 0.71
R4543:Sox21 UTSW 14 118,472,548 (GRCm39) small deletion probably benign
R4835:Sox21 UTSW 14 118,472,336 (GRCm39) missense possibly damaging 0.73
R5776:Sox21 UTSW 14 118,472,656 (GRCm39) missense probably damaging 0.98
R6176:Sox21 UTSW 14 118,473,040 (GRCm39) missense possibly damaging 0.53
R6933:Sox21 UTSW 14 118,472,725 (GRCm39) missense possibly damaging 0.71
R7836:Sox21 UTSW 14 118,472,729 (GRCm39) nonsense probably null
R9585:Sox21 UTSW 14 118,472,993 (GRCm39) missense possibly damaging 0.86
Posted On 2015-04-16