Incidental Mutation 'R4543:Sox21'
ID 333635
Institutional Source Beutler Lab
Gene Symbol Sox21
Ensembl Gene ENSMUSG00000061517
Gene Name SRY (sex determining region Y)-box 21
Synonyms Sox25
MMRRC Submission 041778-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.907) question?
Stock # R4543 (G1)
Quality Score 146
Status Validated
Chromosome 14
Chromosomal Location 118470645-118474442 bp(-) (GRCm39)
Type of Mutation small deletion (5 aa in frame mutation)
DNA Base Change (assembly) CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC to CCAGCGGCGGCGGCGGCAGCGGC at 118472548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000127396
Gene: ENSMUSG00000061517

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 94% (44/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,789,749 (GRCm39) S500T probably damaging Het
Abhd3 T C 18: 10,706,672 (GRCm39) D2G possibly damaging Het
Ablim1 C T 19: 57,065,874 (GRCm39) R366H possibly damaging Het
Adgre1 T A 17: 57,713,874 (GRCm39) H186Q probably benign Het
Ankmy1 G T 1: 92,812,572 (GRCm39) A579E probably damaging Het
Ap2b1 C A 11: 83,215,476 (GRCm39) T140K probably damaging Het
Arhgef28 T A 13: 98,211,508 (GRCm39) E158D probably benign Het
Atp8b4 A G 2: 126,199,986 (GRCm39) F885L probably damaging Het
Barx2 A G 9: 31,758,092 (GRCm39) L282S unknown Het
Catsper2 C T 2: 121,237,890 (GRCm39) W163* probably null Het
Cep295 T C 9: 15,246,549 (GRCm39) T588A possibly damaging Het
Chil3 T G 3: 106,067,686 (GRCm39) K160Q probably benign Het
Clca3a1 T A 3: 144,452,749 (GRCm39) Q578L probably damaging Het
Crp A C 1: 172,526,304 (GRCm39) I130L probably benign Het
Dtwd2 C A 18: 49,857,175 (GRCm39) probably null Het
Fads3 T C 19: 10,019,175 (GRCm39) F27S possibly damaging Het
Gm3604 T C 13: 62,517,970 (GRCm39) D109G probably benign Het
Gtf2ird1 A G 5: 134,392,754 (GRCm39) probably null Het
H2-K2 C T 17: 34,218,532 (GRCm39) probably null Het
Hdac5 T C 11: 102,104,770 (GRCm39) probably benign Het
Il6st G A 13: 112,617,993 (GRCm39) V136M probably damaging Het
Immt T C 6: 71,828,762 (GRCm39) S106P probably damaging Het
Kat2b T C 17: 53,960,168 (GRCm39) I492T probably benign Het
Kcnn2 T C 18: 45,692,715 (GRCm39) F97S probably benign Het
Kdm4c A G 4: 74,248,997 (GRCm39) I84V probably benign Het
Kif7 G A 7: 79,357,296 (GRCm39) P637S probably benign Het
Lrrcc1 T A 3: 14,604,851 (GRCm39) I109K probably damaging Het
Med12l T A 3: 58,998,929 (GRCm39) C619S probably damaging Het
Mgat4f T A 1: 134,317,531 (GRCm39) M101K probably benign Het
Or8g51 A G 9: 38,608,841 (GRCm39) S274P possibly damaging Het
Polq T C 16: 36,881,147 (GRCm39) C1104R probably benign Het
Rbfox2 A T 15: 77,190,568 (GRCm39) M59K probably benign Het
Rft1 T C 14: 30,383,290 (GRCm39) V110A probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,129 (GRCm39) probably benign Het
Slc2a12 T A 10: 22,540,685 (GRCm39) V180D probably damaging Het
Stap2 C T 17: 56,304,604 (GRCm39) probably null Het
Tenm4 A G 7: 96,545,022 (GRCm39) N2375S probably benign Het
Tmem132c A G 5: 127,582,041 (GRCm39) T419A probably benign Het
Tmprss11a G A 5: 86,559,668 (GRCm39) Q375* probably null Het
Trav12-3 CTCTG CTCTGTCTG 14: 53,859,693 (GRCm39) probably null Het
Vmn1r88 T A 7: 12,911,907 (GRCm39) S88T possibly damaging Het
Zfp622 T A 15: 25,991,623 (GRCm39) D143E possibly 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
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
Predicted Primers PCR Primer
(F):5'- AGTTGCACGGGATCATGTAG -3'
(R):5'- AAGGACAAGTTCGCCTTCCC -3'

Sequencing Primer
(F):5'- ATCATGTAGCCGGGGTTGCC -3'
(R):5'- AGTTCGCCTTCCCCGTGC -3'
Posted On 2015-08-18