Incidental Mutation 'R9585:Sox21'
ID 722772
Institutional Source Beutler Lab
Gene Symbol Sox21
Ensembl Gene ENSMUSG00000061517
Gene Name SRY (sex determining region Y)-box 21
Synonyms Sox25
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.907) question?
Stock # R9585 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 118470645-118474442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118472993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 19 (S19P)
Ref Sequence ENSEMBL: ENSMUSP00000127396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170662]
AlphaFold Q811W0
Predicted Effect possibly damaging
Transcript: ENSMUST00000170662
AA Change: S19P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127396
Gene: ENSMUSG00000061517
AA Change: S19P

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: 99.6%
  • 20x: 98.7%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T A 3: 124,199,993 (GRCm39) D533V possibly damaging Het
4933411K16Rik A G 19: 42,041,352 (GRCm39) E161G probably benign Het
Abca12 A G 1: 71,342,745 (GRCm39) S912P probably damaging Het
Abca3 G A 17: 24,619,486 (GRCm39) M1196I probably benign Het
Adprs A T 4: 126,211,786 (GRCm39) D175E probably benign Het
Asrgl1 A G 19: 9,090,398 (GRCm39) L316P probably benign Het
Avl9 T A 6: 56,734,299 (GRCm39) M626K probably damaging Het
Birc6 A G 17: 74,916,265 (GRCm39) N1727S probably damaging Het
Casp14 G A 10: 78,549,194 (GRCm39) R251W probably damaging Het
Cfap69 A G 5: 5,631,269 (GRCm39) I919T possibly damaging Het
Cibar2 T C 8: 120,901,450 (GRCm39) E85G probably null Het
Cps1 T A 1: 67,195,341 (GRCm39) M254K probably damaging Het
Ctc1 A G 11: 68,925,490 (GRCm39) E1009G probably damaging Het
Ddx25 A T 9: 35,455,009 (GRCm39) Y426* probably null Het
Dok3 A G 13: 55,672,057 (GRCm39) F207S probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Fcrla A T 1: 170,749,868 (GRCm39) M1K probably null Het
Heatr4 A T 12: 84,014,472 (GRCm39) S588R probably damaging Het
Iglv3 A G 16: 19,059,960 (GRCm39) *123Q probably null Het
Igsf9b T C 9: 27,233,532 (GRCm39) I344T probably damaging Het
Il18 T C 9: 50,490,661 (GRCm39) S99P probably damaging Het
Krt36 G A 11: 99,994,892 (GRCm39) L227F probably damaging Het
Lrriq1 A G 10: 103,051,250 (GRCm39) S501P probably benign Het
Lvrn T C 18: 47,011,411 (GRCm39) probably null Het
Myo18a T A 11: 77,709,495 (GRCm39) M535K probably benign Het
Myocd T A 11: 65,095,192 (GRCm39) S158C probably damaging Het
Naip6 A T 13: 100,436,577 (GRCm39) C649S probably damaging Het
Oasl2 T C 5: 115,035,901 (GRCm39) V59A probably damaging Het
Obscn C A 11: 58,965,831 (GRCm39) V2942F probably benign Het
Or10a49 T A 7: 108,467,552 (GRCm39) T270S probably benign Het
Or5l14 T A 2: 87,792,919 (GRCm39) T106S probably benign Het
Osbpl6 A G 2: 76,354,438 (GRCm39) T18A probably benign Het
Pcf11 A T 7: 92,311,006 (GRCm39) D327E probably benign Het
Per3 G T 4: 151,097,138 (GRCm39) Q796K probably benign Het
Pex5l T C 3: 33,060,091 (GRCm39) T227A probably benign Het
Phf11b G T 14: 59,568,704 (GRCm39) P70T probably benign Het
Pkd1l1 T G 11: 8,804,390 (GRCm39) I2184L Het
Polr3a A T 14: 24,502,289 (GRCm39) M1288K probably damaging Het
Pth1r T A 9: 110,573,847 (GRCm39) R3S probably benign Het
Ptprk C A 10: 28,369,147 (GRCm39) Y706* probably null Het
Rmi2 C T 16: 10,703,983 (GRCm39) T108I probably benign Het
Rrbp1 T C 2: 143,799,479 (GRCm39) N1076S probably benign Het
Setd3 A C 12: 108,074,814 (GRCm39) probably null Het
Slc4a1 A G 11: 102,247,915 (GRCm39) Y360H probably benign Het
Speer4a2 T C 5: 26,291,542 (GRCm39) H88R possibly damaging Het
Stx18 T A 5: 38,249,916 (GRCm39) N76K possibly damaging Het
Sv2c T C 13: 96,122,466 (GRCm39) T437A probably benign Het
Trrap G A 5: 144,777,330 (GRCm39) V3043M probably damaging Het
Vps50 T A 6: 3,600,348 (GRCm39) S936T probably benign 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
R6933:Sox21 UTSW 14 118,472,725 (GRCm39) missense possibly damaging 0.71
R7836:Sox21 UTSW 14 118,472,729 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCGGGATGCTCCTTCATGTG -3'
(R):5'- CTTAGAGCTCGACCAGACAG -3'

Sequencing Primer
(F):5'- CTTCATGTGCATGGCTCGCAG -3'
(R):5'- GCTGGTCGTCTGGTCCTC -3'
Posted On 2022-08-09