Incidental Mutation 'R7443:Sox13'
ID 577063
Institutional Source Beutler Lab
Gene Symbol Sox13
Ensembl Gene ENSMUSG00000070643
Gene Name SRY (sex determining region Y)-box 13
Synonyms
MMRRC Submission 045519-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7443 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 133310041-133352115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133312369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 465 (Y465C)
Ref Sequence ENSEMBL: ENSMUSP00000092130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094551] [ENSMUST00000129213] [ENSMUST00000135222] [ENSMUST00000144386] [ENSMUST00000153799]
AlphaFold Q04891
Predicted Effect probably damaging
Transcript: ENSMUST00000094551
AA Change: Y465C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092130
Gene: ENSMUSG00000070643
AA Change: Y465C

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 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 damaging
Transcript: ENSMUST00000144386
AA Change: Y446C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122980
Gene: ENSMUSG00000070643
AA Change: Y446C

DomainStartEndE-ValueType
coiled coil region 153 197 N/A INTRINSIC
HMG 396 466 3.09e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000153799
AA Change: Y465C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119729
Gene: ENSMUSG00000070643
AA Change: Y465C

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T C 1: 156,452,951 (GRCm39) I162T probably damaging Het
Acaca G A 11: 84,206,619 (GRCm39) S1493N probably benign Het
Arf2 T A 11: 103,859,976 (GRCm39) M18K probably benign Het
Bag5 A G 12: 111,677,161 (GRCm39) S221P probably damaging Het
Bcr T C 10: 74,978,968 (GRCm39) probably null Het
Btg2 T A 1: 134,005,433 (GRCm39) K51* probably null Het
Chrne A G 11: 70,509,092 (GRCm39) V130A probably benign Het
Cracd T C 5: 77,004,485 (GRCm39) V282A unknown Het
Cubn T A 2: 13,460,320 (GRCm39) D714V probably damaging Het
Cyp4a29 A T 4: 115,105,756 (GRCm39) I153F probably damaging Het
Dph7 C A 2: 24,852,505 (GRCm39) H5Q probably benign Het
Epha6 T C 16: 59,595,988 (GRCm39) N901S possibly damaging Het
Exosc9 C A 3: 36,607,990 (GRCm39) P66Q probably damaging Het
Foxn3 T C 12: 99,355,038 (GRCm39) D42G possibly damaging Het
Gbp11 A G 5: 105,478,816 (GRCm39) probably null Het
Gm3264 A T 14: 16,058,304 (GRCm39) Y37F probably damaging Het
H2-M10.2 T A 17: 36,596,945 (GRCm39) I44F probably benign Het
Hemgn A T 4: 46,396,145 (GRCm39) F364I probably damaging Het
Hnf4a A G 2: 163,400,932 (GRCm39) I184V probably benign Het
Ighe G T 12: 113,235,785 (GRCm39) C180* probably null Het
Iigp1c A T 18: 60,379,122 (GRCm39) N219I probably benign Het
Klk1b22 T A 7: 43,765,534 (GRCm39) I162K probably benign Het
Lmo3 C T 6: 138,354,220 (GRCm39) A104T probably damaging Het
Lsm14a A G 7: 34,053,263 (GRCm39) V263A probably benign Het
Ltbp1 T C 17: 75,671,432 (GRCm39) Y1538H probably damaging Het
Ly6g6g T C 15: 74,647,249 (GRCm39) E32G Het
Map9 A G 3: 82,278,663 (GRCm39) E221G possibly damaging Het
Mccc2 G A 13: 100,130,144 (GRCm39) A71V possibly damaging Het
Mdc1 T A 17: 36,161,712 (GRCm39) V875E probably damaging Het
Mier2 A T 10: 79,376,289 (GRCm39) I212N unknown Het
Mitd1 T C 1: 37,920,117 (GRCm39) T164A probably benign Het
Myh1 T C 11: 67,111,331 (GRCm39) I1590T probably benign Het
Mylk2 T G 2: 152,753,346 (GRCm39) probably benign Het
Ncapg T A 5: 45,829,652 (GRCm39) V118E probably benign Het
Nynrin G A 14: 56,108,873 (GRCm39) V1327I probably benign Het
Oas1c C A 5: 120,943,484 (GRCm39) K218N probably damaging Het
Or11g24 A G 14: 50,662,507 (GRCm39) D177G probably damaging Het
Or13a18 A G 7: 140,190,961 (GRCm39) N286S probably damaging Het
Or1e23 A T 11: 73,407,674 (GRCm39) V117D possibly damaging Het
Or4a80 T A 2: 89,582,285 (GRCm39) M296L probably benign Het
Or5g26 T A 2: 85,493,912 (GRCm39) I289F probably damaging Het
Or5h17 T A 16: 58,820,353 (GRCm39) F102I probably damaging Het
Otoa A T 7: 120,731,633 (GRCm39) M618L probably benign Het
P3r3urf G A 4: 116,030,664 (GRCm39) G23R probably benign Het
Plcg2 A T 8: 118,231,028 (GRCm39) T37S probably benign Het
Plekhg4 T C 8: 106,107,499 (GRCm39) L1010P probably damaging Het
Plxnb1 T C 9: 108,943,675 (GRCm39) F1921L probably damaging Het
Prss47 T A 13: 65,197,303 (GRCm39) K144N probably damaging Het
Rapgef2 T C 3: 78,988,531 (GRCm39) K953E probably damaging Het
Rasip1 T A 7: 45,288,148 (GRCm39) I909N probably damaging Het
Rps5 A G 7: 12,656,922 (GRCm39) T8A probably benign Het
Rsbn1l T C 5: 21,132,621 (GRCm39) K213E possibly damaging Het
Serpinb5 T C 1: 106,809,700 (GRCm39) F369L probably benign Het
Slc4a5 T C 6: 83,241,297 (GRCm39) V306A probably benign Het
Stx3 A G 19: 11,769,208 (GRCm39) I39T possibly damaging Het
Tbc1d5 T C 17: 51,273,763 (GRCm39) Y116C probably damaging Het
Tcp11l1 T A 2: 104,514,480 (GRCm39) Q429L probably benign Het
Tns3 G A 11: 8,401,442 (GRCm39) T952I probably benign Het
Trib3 T C 2: 152,181,692 (GRCm39) H176R possibly damaging Het
Trim12a A G 7: 103,950,049 (GRCm39) Y297H probably damaging Het
Unc13a A G 8: 72,083,603 (GRCm39) V1577A probably damaging Het
Vezf1 C A 11: 87,965,489 (GRCm39) P244T probably damaging Het
Vmn1r121 T A 7: 20,831,945 (GRCm39) D165V probably damaging Het
Vmn2r117 T A 17: 23,679,107 (GRCm39) I706F probably benign Het
Vmn2r117 C T 17: 23,679,319 (GRCm39) C635Y probably damaging Het
Vmn2r13 T A 5: 109,339,909 (GRCm39) H22L probably benign Het
Vmn2r87 A T 10: 130,308,588 (GRCm39) M550K probably damaging Het
Wdr6 A G 9: 108,451,489 (GRCm39) L798P probably damaging Het
Wtap C T 17: 13,199,821 (GRCm39) G54D probably benign Het
Zfp827 A G 8: 79,917,047 (GRCm39) S541G Het
Zkscan3 A T 13: 21,572,608 (GRCm39) Y341* probably null 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
R4591:Sox13 UTSW 1 133,311,421 (GRCm39) missense probably damaging 1.00
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 1 133,312,311 (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'- TCTGCCTGCCTCACACAAAG -3'
(R):5'- GCCCTTGATGAGTGCTTATGC -3'

Sequencing Primer
(F):5'- CCTGCTCACGGGATGGTGTAG -3'
(R):5'- CTTGATGAGTGCTTATGCCTTATC -3'
Posted On 2019-10-07