Incidental Mutation 'R4591:Sox13'
ID 342797
Institutional Source Beutler Lab
Gene Symbol Sox13
Ensembl Gene ENSMUSG00000070643
Gene Name SRY (sex determining region Y)-box 13
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4591 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 133310041-133352115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133311421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 604 (S604G)
Ref Sequence ENSEMBL: ENSMUSP00000119729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094551] [ENSMUST00000129213] [ENSMUST00000135222] [ENSMUST00000144386] [ENSMUST00000153799]
AlphaFold Q04891
Predicted Effect probably damaging
Transcript: ENSMUST00000094551
AA Change: S604G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092130
Gene: ENSMUSG00000070643
AA Change: S604G

DomainStartEndE-ValueType
coiled coil region 171 217 N/A INTRINSIC
HMG 415 485 3.09e-27 SMART
low complexity region 593 607 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126530
Predicted Effect probably benign
Transcript: ENSMUST00000129213
SMART Domains Protein: ENSMUSP00000122244
Gene: ENSMUSG00000070644

DomainStartEndE-ValueType
Pfam:Choline_kinase 1 200 4.7e-64 PFAM
Pfam:APH 2 227 2.2e-21 PFAM
Pfam:EcKinase 58 211 1.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135222
SMART Domains Protein: ENSMUSP00000114272
Gene: ENSMUSG00000070644

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:APH 84 331 1e-19 PFAM
Pfam:Choline_kinase 104 303 2.7e-64 PFAM
Pfam:EcKinase 163 313 2.8e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144386
SMART Domains Protein: ENSMUSP00000122980
Gene: ENSMUSG00000070643

DomainStartEndE-ValueType
coiled coil region 153 197 N/A INTRINSIC
HMG 396 466 3.09e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145922
Predicted Effect probably damaging
Transcript: ENSMUST00000153799
AA Change: S604G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119729
Gene: ENSMUSG00000070643
AA Change: S604G

DomainStartEndE-ValueType
coiled coil region 153 199 N/A INTRINSIC
HMG 397 467 3.09e-27 SMART
low complexity region 575 589 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
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 cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display impaired development of gamma-delta T cells and severe postnatal growth defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,599 (GRCm39) S187P possibly damaging Het
4932438H23Rik T C 16: 90,852,959 (GRCm39) N59S probably damaging Het
Abca15 A T 7: 119,981,636 (GRCm39) D1030V probably damaging Het
Acmsd A T 1: 127,676,934 (GRCm39) N153I probably damaging Het
Adprh C A 16: 38,266,345 (GRCm39) V266L probably benign Het
Aldh5a1 G A 13: 25,107,991 (GRCm39) P217S probably damaging Het
Alpk2 A T 18: 65,438,894 (GRCm39) L1300Q probably benign Het
Alyref C T 11: 120,486,799 (GRCm39) R154Q probably benign Het
Ano6 T A 15: 95,841,308 (GRCm39) C468* probably null Het
Aox3 A T 1: 58,191,815 (GRCm39) I456F probably damaging Het
Art4 A G 6: 136,831,755 (GRCm39) Y129H probably damaging Het
Asb16 C A 11: 102,167,551 (GRCm39) H306N probably damaging Het
Atp8a2 C A 14: 59,892,078 (GRCm39) R1090L probably benign Het
Brap G T 5: 121,800,113 (GRCm39) V1F probably null Het
C1qb C A 4: 136,609,528 (GRCm39) G31W probably damaging Het
Cacna2d4 T C 6: 119,275,425 (GRCm39) Y666H probably benign Het
Casr T C 16: 36,320,732 (GRCm39) N472S probably benign Het
Ccdc91 T G 6: 147,491,963 (GRCm39) S282A unknown Het
Cd300lg A G 11: 101,937,006 (GRCm39) T164A probably benign Het
Cd79b A T 11: 106,202,872 (GRCm39) D243E probably damaging Het
Cdh6 C A 15: 13,051,572 (GRCm39) V354F possibly damaging Het
Cdhr2 A G 13: 54,863,497 (GRCm39) N126S probably benign Het
Cep192 A T 18: 67,968,039 (GRCm39) N841I probably damaging Het
Cngb1 T C 8: 95,980,012 (GRCm39) T963A probably damaging Het
Col16a1 A G 4: 129,955,592 (GRCm39) probably null Het
Coro1a A G 7: 126,302,164 (GRCm39) V61A probably damaging Het
Crocc T A 4: 140,745,983 (GRCm39) D1712V probably damaging Het
Ddn T C 15: 98,705,687 (GRCm39) D3G possibly damaging Het
Dnal1 T C 12: 84,180,627 (GRCm39) F89S probably benign Het
Dusp3 T A 11: 101,864,446 (GRCm39) probably benign Het
Dyrk3 C A 1: 131,057,895 (GRCm39) G58C probably damaging Het
Fat1 T C 8: 45,479,279 (GRCm39) F2775S probably benign Het
Frk A G 10: 34,481,829 (GRCm39) N373S probably benign Het
Glmn A G 5: 107,708,917 (GRCm39) probably null Het
Gm11565 A T 11: 99,805,769 (GRCm39) T54S possibly damaging Het
Gm14410 A G 2: 176,885,820 (GRCm39) I148T possibly damaging Het
Gm21834 T A 17: 58,048,880 (GRCm39) H112L possibly damaging Het
Gm5862 A G 5: 26,224,486 (GRCm39) I161T possibly damaging Het
Grid2 G T 6: 64,297,086 (GRCm39) G483V probably damaging Het
Hfm1 A T 5: 106,995,533 (GRCm39) S1293T probably benign Het
Il1a G A 2: 129,148,447 (GRCm39) R88W probably damaging Het
Il20rb A T 9: 100,357,043 (GRCm39) V29D possibly damaging Het
Ilvbl C T 10: 78,419,139 (GRCm39) L463F probably benign Het
Kif17 A G 4: 138,005,110 (GRCm39) E225G probably benign Het
Lrp2 A G 2: 69,366,419 (GRCm39) F227L probably damaging Het
Lrrc43 A G 5: 123,639,227 (GRCm39) M419V probably benign Het
Magel2 A G 7: 62,030,837 (GRCm39) Q1247R unknown Het
Mamdc4 T A 2: 25,454,609 (GRCm39) M1068L possibly damaging Het
Mdn1 T G 4: 32,707,636 (GRCm39) S1642A probably damaging Het
Mtarc1 T C 1: 184,539,365 (GRCm39) E102G probably benign Het
Mtcl1 T C 17: 66,655,506 (GRCm39) E819G probably benign Het
Naa15 T C 3: 51,349,345 (GRCm39) L38P probably damaging Het
Nlrp3 A G 11: 59,440,048 (GRCm39) R542G probably benign Het
Or10c1 C T 17: 37,522,010 (GRCm39) V245I probably benign Het
Or4d2b A G 11: 87,780,375 (GRCm39) S116P probably benign Het
Or5ac19 A C 16: 59,089,776 (GRCm39) F85V possibly damaging Het
Or5b125-ps1 ACAC ACACGCAC 19: 13,056,266 (GRCm39) noncoding transcript Het
Pbxip1 T A 3: 89,353,467 (GRCm39) L249Q probably benign Het
Pla2g7 T C 17: 43,911,450 (GRCm39) S201P probably damaging Het
Psmd1 G T 1: 86,055,926 (GRCm39) V763F probably benign Het
Ptp4a2 A G 4: 129,740,308 (GRCm39) E124G probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rbks T A 5: 31,817,352 (GRCm39) K139M possibly damaging Het
Rgs22 T A 15: 36,100,282 (GRCm39) E268D probably benign Het
Slc16a9 T G 10: 70,118,710 (GRCm39) L343R probably damaging Het
Smagp T C 15: 100,519,860 (GRCm39) I55V probably damaging Het
St6gal1 G T 16: 23,140,044 (GRCm39) V72F probably benign Het
Stxbp4 A G 11: 90,485,606 (GRCm39) V247A probably benign Het
Susd3 A T 13: 49,384,736 (GRCm39) M217K possibly damaging Het
Tas2r129 T A 6: 132,928,574 (GRCm39) N170K probably benign Het
Tmem245 C A 4: 56,910,204 (GRCm39) A515S probably damaging Het
Tpte T C 8: 22,817,791 (GRCm39) V259A probably benign Het
Trpa1 T C 1: 14,952,332 (GRCm39) probably null Het
Ttc28 G A 5: 111,371,147 (GRCm39) R532H probably damaging Het
Vwa5a A T 9: 38,646,916 (GRCm39) N529I possibly damaging Het
Zfp574 T C 7: 24,778,969 (GRCm39) probably benign Het
Other mutations in Sox13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Sox13 APN 1 133,314,844 (GRCm39) missense probably benign 0.02
IGL01147:Sox13 APN 1 133,320,873 (GRCm39) missense probably benign
IGL01586:Sox13 APN 1 133,317,182 (GRCm39) missense possibly damaging 0.70
IGL02750:Sox13 APN 1 133,311,534 (GRCm39) missense probably benign 0.17
IGL02902:Sox13 APN 1 133,317,204 (GRCm39) missense probably damaging 1.00
IGL03388:Sox13 APN 1 133,316,686 (GRCm39) missense probably damaging 0.99
PIT4802001:Sox13 UTSW 1 133,313,996 (GRCm39) missense probably damaging 1.00
R0515:Sox13 UTSW 1 133,311,457 (GRCm39) missense probably damaging 1.00
R1328:Sox13 UTSW 1 133,311,555 (GRCm39) missense probably damaging 0.99
R3766:Sox13 UTSW 1 133,318,536 (GRCm39) missense possibly damaging 0.92
R4613:Sox13 UTSW 1 133,316,672 (GRCm39) missense probably benign 0.29
R5715:Sox13 UTSW 1 133,313,921 (GRCm39) critical splice donor site probably null
R5909:Sox13 UTSW 1 133,311,627 (GRCm39) missense probably benign 0.04
R6155:Sox13 UTSW 1 133,321,005 (GRCm39) missense probably damaging 1.00
R7150:Sox13 UTSW 1 133,313,243 (GRCm39) missense possibly damaging 0.89
R7225:Sox13 UTSW 1 133,314,862 (GRCm39) missense probably benign 0.10
R7232:Sox13 UTSW 1 133,312,129 (GRCm39) splice site probably null
R7443:Sox13 UTSW 1 133,312,369 (GRCm39) missense probably damaging 1.00
R7443:Sox13 UTSW 1 133,312,311 (GRCm39) missense probably damaging 1.00
R8181:Sox13 UTSW 1 133,311,498 (GRCm39) missense probably benign 0.04
R9200:Sox13 UTSW 1 133,313,743 (GRCm39) missense probably damaging 0.98
R9593:Sox13 UTSW 1 133,316,214 (GRCm39) missense probably damaging 1.00
X0021:Sox13 UTSW 1 133,313,736 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTACAAGTGCAGTTTCACCC -3'
(R):5'- AGGCACAGGTGAGCTCAGATATC -3'

Sequencing Primer
(F):5'- AGTGCAGTTTCACCCATCAC -3'
(R):5'- ACAGGTGAGCTCAGATATCCTGTTC -3'
Posted On 2015-09-24