Incidental Mutation 'R6933:Sox21'
ID 540180
Institutional Source Beutler Lab
Gene Symbol Sox21
Ensembl Gene ENSMUSG00000061517
Gene Name SRY (sex determining region Y)-box 21
Synonyms Sox25
MMRRC Submission 045048-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.871) question?
Stock # R6933 (G1)
Quality Score 158.009
Status Not validated
Chromosome 14
Chromosomal Location 118470645-118474442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118472725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 108 (H108R)
Ref Sequence ENSEMBL: ENSMUSP00000127396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170662]
AlphaFold Q811W0
Predicted Effect possibly damaging
Transcript: ENSMUST00000170662
AA Change: H108R

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127396
Gene: ENSMUSG00000061517
AA Change: H108R

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.7%
Validation Efficiency 93% (41/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G T 10: 69,740,042 (GRCm39) K814N probably damaging Het
Anks1b A G 10: 89,905,352 (GRCm39) H231R probably damaging Het
Anks6 A G 4: 47,049,164 (GRCm39) V247A probably benign Het
Antxrl A G 14: 33,797,728 (GRCm39) N568D possibly damaging Het
Ccnl1 T C 3: 65,855,373 (GRCm39) T366A probably benign Het
Ccr2 T G 9: 123,906,161 (GRCm39) L147R probably damaging Het
Cdc40 A G 10: 40,720,992 (GRCm39) V318A probably damaging Het
Cfap61 T A 2: 145,792,970 (GRCm39) probably null Het
Cfap97d2 CA CAA 8: 13,784,865 (GRCm39) probably null Het
Clk3 A T 9: 57,669,132 (GRCm39) Y31N probably damaging Het
Cmya5 T C 13: 93,231,644 (GRCm39) Y1148C probably benign Het
Cntnap5b T C 1: 100,311,175 (GRCm39) V927A probably benign Het
Dync1i1 A C 6: 5,913,333 (GRCm39) T217P probably damaging Het
Elovl4 A G 9: 83,667,153 (GRCm39) V68A probably damaging Het
Ep400 C A 5: 110,813,728 (GRCm39) K2890N probably damaging Het
Fam114a2 T C 11: 57,374,897 (GRCm39) I481V probably benign Het
Fam83e A G 7: 45,371,818 (GRCm39) T72A probably benign Het
Fnip2 A T 3: 79,425,418 (GRCm39) M59K probably benign Het
Lrpprc T C 17: 85,030,131 (GRCm39) K1089R probably benign Het
Mndal T A 1: 173,703,249 (GRCm39) E52V probably damaging Het
Myom1 C A 17: 71,359,666 (GRCm39) T446K probably damaging Het
Nbea A T 3: 55,631,031 (GRCm39) F2199I possibly damaging Het
Nr1h2 A T 7: 44,199,437 (GRCm39) L438Q probably damaging Het
Or52n2c A G 7: 104,574,330 (GRCm39) C214R probably benign Het
Pet117 T A 2: 144,211,019 (GRCm39) V13E possibly damaging Het
Pnpla8 A G 12: 44,330,210 (GRCm39) E254G probably benign Het
Polr2a T C 11: 69,627,003 (GRCm39) E1485G probably damaging Het
Polr2a C T 11: 69,630,293 (GRCm39) R1258Q probably benign Het
Ptpn4 T C 1: 119,700,878 (GRCm39) probably benign Het
Rapgef2 A T 3: 78,993,266 (GRCm39) Y889N probably damaging Het
Sbf1 G A 15: 89,184,572 (GRCm39) R1115C probably damaging Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Shank2 A T 7: 143,645,515 (GRCm39) T366S probably benign Het
Slc22a23 T C 13: 34,489,163 (GRCm39) I241V probably benign Het
Sox11 G T 12: 27,391,493 (GRCm39) S305R probably damaging Het
Taok1 A T 11: 77,446,479 (GRCm39) S417T probably benign Het
Tg C T 15: 66,636,158 (GRCm39) R582C possibly damaging Het
Traf3 T C 12: 111,221,658 (GRCm39) V273A possibly damaging Het
Tspyl3 T C 2: 153,067,203 (GRCm39) T12A probably benign Het
Vmn2r86 A T 10: 130,282,126 (GRCm39) I830N probably damaging Het
Vps26b A T 9: 26,926,613 (GRCm39) F129I possibly damaging Het
Washc3 A G 10: 88,037,714 (GRCm39) N24S probably damaging Het
Xirp2 C A 2: 67,345,201 (GRCm39) Q2481K probably benign Het
Zfhx4 T C 3: 5,478,047 (GRCm39) V3554A probably damaging Het
Other mutations in Sox21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02294:Sox21 APN 14 118,472,950 (GRCm39) missense probably benign 0.05
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
R7836:Sox21 UTSW 14 118,472,729 (GRCm39) nonsense probably null
R9585:Sox21 UTSW 14 118,472,993 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- ATCTCTGCCATCTTGGAGCC -3'
(R):5'- CAACTCGGAGATCAGCAAGC -3'

Sequencing Primer
(F):5'- ATCTTGGAGCCCAGGTCGAG -3'
(R):5'- AGATCAGCAAGCGCCTG -3'
Posted On 2018-11-06