Incidental Mutation 'R4929:Sox8'
ID 381114
Institutional Source Beutler Lab
Gene Symbol Sox8
Ensembl Gene ENSMUSG00000024176
Gene Name SRY (sex determining region Y)-box 8
Synonyms
MMRRC Submission 042530-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4929 (G1)
Quality Score 97
Status Validated
Chromosome 17
Chromosomal Location 25784866-25789660 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25789330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 56 (A56V)
Ref Sequence ENSEMBL: ENSMUSP00000025003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025003] [ENSMUST00000173447]
AlphaFold Q04886
Predicted Effect probably benign
Transcript: ENSMUST00000025003
AA Change: A56V

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025003
Gene: ENSMUSG00000024176
AA Change: A56V

DomainStartEndE-ValueType
Pfam:Sox_N 18 86 3.8e-27 PFAM
HMG 98 168 3.86e-28 SMART
low complexity region 208 228 N/A INTRINSIC
low complexity region 303 321 N/A INTRINSIC
low complexity region 375 397 N/A INTRINSIC
low complexity region 407 425 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163493
Predicted Effect probably benign
Transcript: ENSMUST00000173447
AA Change: A56V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000133403
Gene: ENSMUSG00000024176
AA Change: A56V

DomainStartEndE-ValueType
Pfam:Sox_N 3 87 3.3e-25 PFAM
HMG 98 168 3.86e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174560
SMART Domains Protein: ENSMUSP00000133742
Gene: ENSMUSG00000024176

DomainStartEndE-ValueType
HMG 1 66 1.19e-19 SMART
Meta Mutation Damage Score 0.0809 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This 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. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a 30% decrease in adult body weight due to diminished fat stores, and a reduction of several tarsals which subsequently fail to fuse. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,273,467 (GRCm39) noncoding transcript Het
Abcd3 A T 3: 121,562,395 (GRCm39) probably null Het
Adamts12 C T 15: 11,259,108 (GRCm39) R551C probably damaging Het
Adamtsl4 A G 3: 95,585,315 (GRCm39) C818R probably damaging Het
Arfgef3 T A 10: 18,506,599 (GRCm39) Q842L probably benign Het
Aurka A T 2: 172,212,326 (GRCm39) V17E probably benign Het
Cdh24 C T 14: 54,870,973 (GRCm39) V132I probably benign Het
Cep57l1 T C 10: 41,621,910 (GRCm39) D2G possibly damaging Het
Cntn5 T A 9: 9,976,400 (GRCm39) probably null Het
Col10a1 T C 10: 34,271,120 (GRCm39) I364T probably benign Het
Dpp6 G A 5: 27,254,785 (GRCm39) A67T probably benign Het
Dym T A 18: 75,376,357 (GRCm39) V583E probably damaging Het
Efcab5 T G 11: 76,994,209 (GRCm39) K1259N probably benign Het
Ehbp1 T G 11: 22,189,169 (GRCm39) I78L possibly damaging Het
Epha1 C A 6: 42,341,533 (GRCm39) A469S probably benign Het
Fam135a T C 1: 24,069,081 (GRCm39) D596G probably benign Het
Filip1 T C 9: 79,727,029 (GRCm39) N530S probably benign Het
Gm57858 G A 3: 36,089,487 (GRCm39) L146F probably damaging Het
Grhl2 A G 15: 37,361,046 (GRCm39) N610S probably benign Het
Haus6 T C 4: 86,513,670 (GRCm39) I331V probably benign Het
Ints2 G T 11: 86,103,479 (GRCm39) N1192K possibly damaging Het
Itga5 A G 15: 103,261,662 (GRCm39) V445A probably benign Het
Itga9 C A 9: 118,636,317 (GRCm39) D82E probably damaging Het
Jam2 G A 16: 84,619,750 (GRCm39) probably benign Het
Klhl32 T A 4: 24,709,030 (GRCm39) I112F probably damaging Het
Lepr A G 4: 101,672,314 (GRCm39) I1113V probably benign Het
Lrrc3b C A 14: 15,357,888 (GRCm38) L239F probably damaging Het
Lzic T A 4: 149,572,585 (GRCm39) probably null Het
Mxra8 T A 4: 155,927,118 (GRCm39) F351I probably damaging Het
Naa40 A G 19: 7,207,347 (GRCm39) F126L probably damaging Het
Nbeal1 C T 1: 60,277,813 (GRCm39) S733F probably damaging Het
Olr1 T C 6: 129,477,044 (GRCm39) T74A probably damaging Het
Or52x1 A G 7: 104,853,232 (GRCm39) I106T probably damaging Het
Or5aq7 A G 2: 86,938,527 (GRCm39) F68S possibly damaging Het
Or5h17 A C 16: 58,820,582 (GRCm39) Y178S probably damaging Het
Pgam5 A T 5: 110,413,691 (GRCm39) V130D probably damaging Het
Pop4 A G 7: 37,965,573 (GRCm39) C115R probably damaging Het
Prpf18 A T 2: 4,629,348 (GRCm39) probably null Het
Psg16 G A 7: 16,829,031 (GRCm39) R205H possibly damaging Het
Ptgr1 C A 4: 58,981,879 (GRCm39) A53S probably benign Het
Shank2 A G 7: 143,965,008 (GRCm39) D1451G probably benign Het
Slfn10-ps A G 11: 82,920,345 (GRCm39) noncoding transcript Het
Ssr3 A G 3: 65,295,175 (GRCm39) S113P probably damaging Het
Stx16 T C 2: 173,938,721 (GRCm39) Y296H possibly damaging Het
Tfcp2 A T 15: 100,426,370 (GRCm39) N60K probably benign Het
Thada T C 17: 84,751,654 (GRCm39) T441A probably benign Het
Trf G T 9: 103,105,074 (GRCm39) probably benign Het
Vamp2 T A 11: 68,979,488 (GRCm39) probably benign Het
Vmn2r105 A T 17: 20,448,280 (GRCm39) D181E probably benign Het
Vmn2r12 A T 5: 109,239,544 (GRCm39) Y340N probably damaging Het
Wasf2 C A 4: 132,923,170 (GRCm39) D493E unknown Het
Wdfy4 T C 14: 32,769,213 (GRCm39) D2084G possibly damaging Het
Zfp229 T A 17: 21,965,354 (GRCm39) I528N probably damaging Het
Zfp703 T A 8: 27,468,879 (GRCm39) V181E possibly damaging Het
Other mutations in Sox8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01417:Sox8 APN 17 25,786,502 (GRCm39) splice site probably null
IGL01918:Sox8 APN 17 25,789,111 (GRCm39) missense probably damaging 1.00
IGL02672:Sox8 APN 17 25,787,963 (GRCm39) missense probably damaging 1.00
IGL03371:Sox8 APN 17 25,786,414 (GRCm39) missense probably damaging 1.00
R1398:Sox8 UTSW 17 25,786,857 (GRCm39) missense probably benign 0.01
R1673:Sox8 UTSW 17 25,786,456 (GRCm39) missense possibly damaging 0.77
R1742:Sox8 UTSW 17 25,786,915 (GRCm39) missense probably damaging 0.99
R4019:Sox8 UTSW 17 25,789,271 (GRCm39) missense probably damaging 1.00
R4353:Sox8 UTSW 17 25,786,309 (GRCm39) makesense probably null
R4466:Sox8 UTSW 17 25,787,879 (GRCm39) missense probably benign 0.37
R4893:Sox8 UTSW 17 25,787,963 (GRCm39) missense probably damaging 1.00
R5915:Sox8 UTSW 17 25,786,443 (GRCm39) missense probably damaging 1.00
R6114:Sox8 UTSW 17 25,786,494 (GRCm39) missense probably damaging 1.00
R6915:Sox8 UTSW 17 25,786,888 (GRCm39) missense probably damaging 1.00
R7030:Sox8 UTSW 17 25,789,082 (GRCm39) critical splice donor site probably null
R7232:Sox8 UTSW 17 25,786,514 (GRCm39) missense probably benign 0.01
R7549:Sox8 UTSW 17 25,786,935 (GRCm39) missense probably damaging 0.99
R8262:Sox8 UTSW 17 25,786,617 (GRCm39) missense possibly damaging 0.89
R8862:Sox8 UTSW 17 25,787,045 (GRCm39) missense possibly damaging 0.81
R9015:Sox8 UTSW 17 25,789,135 (GRCm39) missense probably damaging 1.00
R9109:Sox8 UTSW 17 25,787,813 (GRCm39) missense possibly damaging 0.94
R9387:Sox8 UTSW 17 25,786,338 (GRCm39) missense probably damaging 1.00
R9406:Sox8 UTSW 17 25,786,634 (GRCm39) missense probably damaging 1.00
R9646:Sox8 UTSW 17 25,786,871 (GRCm39) missense probably benign 0.00
Z1177:Sox8 UTSW 17 25,787,958 (GRCm39) missense probably damaging 1.00
Z1177:Sox8 UTSW 17 25,786,717 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAGCTTGCCTAGGGTCTTG -3'
(R):5'- CGATGCTGGACATGAGTGAG -3'

Sequencing Primer
(F):5'- CCTAGGGTCTTGCTGAGCTC -3'
(R):5'- TGGACATGAGTGAGGCCCG -3'
Posted On 2016-04-15