Incidental Mutation 'PIT4802001:Sox13'
ID 556713
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 # PIT4802001 (G1)
Quality Score 164.009
Status Not validated
Chromosome 1
Chromosomal Location 133310041-133352115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133313996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 346 (I346N)
Ref Sequence ENSEMBL: ENSMUSP00000092130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094551] [ENSMUST00000144386] [ENSMUST00000153799]
AlphaFold Q04891
Predicted Effect probably damaging
Transcript: ENSMUST00000094551
AA Change: I346N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092130
Gene: ENSMUSG00000070643
AA Change: I346N

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 damaging
Transcript: ENSMUST00000144386
AA Change: I327N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122980
Gene: ENSMUSG00000070643
AA Change: I327N

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: I346N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119729
Gene: ENSMUSG00000070643
AA Change: I346N

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: 93.6%
  • 3x: 91.0%
  • 10x: 85.4%
  • 20x: 73.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,902,172 (GRCm39) D741E probably benign Het
Abca16 A G 7: 120,139,351 (GRCm39) D1461G probably benign Het
Adam6a G T 12: 113,509,078 (GRCm39) D484Y probably damaging Het
Akap5 T C 12: 76,376,706 (GRCm39) Y713H probably damaging Het
AW554918 A G 18: 25,473,132 (GRCm39) E312G possibly damaging Het
Car4 G A 11: 84,855,231 (GRCm39) A157T probably damaging Het
Chst9 A T 18: 15,585,849 (GRCm39) M238K probably benign Het
Ctbp2 G A 7: 132,589,974 (GRCm39) H397Y possibly damaging Het
Cyp3a59 A G 5: 146,039,611 (GRCm39) M295V probably benign Het
Daglb T C 5: 143,488,803 (GRCm39) Y586H probably benign Het
Ehbp1l1 G T 19: 5,769,603 (GRCm39) P567T possibly damaging Het
Emilin2 A G 17: 71,580,464 (GRCm39) I754T probably damaging Het
Esyt2 G A 12: 116,329,457 (GRCm39) A672T probably benign Het
Evx1 G T 6: 52,291,175 (GRCm39) E116* probably null Het
Exph5 T C 9: 53,286,278 (GRCm39) S1120P probably damaging Het
Fam184a A T 10: 53,560,450 (GRCm39) L515* probably null Het
Flt4 T A 11: 49,523,996 (GRCm39) D525E probably benign Het
Galt T C 4: 41,756,764 (GRCm39) W135R probably damaging Het
Ifitm6 A T 7: 140,596,648 (GRCm39) C42S probably damaging Het
Ift172 A G 5: 31,442,610 (GRCm39) S186P probably benign Het
Kcnk3 A G 5: 30,779,712 (GRCm39) E254G probably damaging Het
Kmt2b A G 7: 30,278,996 (GRCm39) S1509P probably damaging Het
Ky T A 9: 102,414,972 (GRCm39) S295T probably benign Het
Lrba T A 3: 86,571,801 (GRCm39) Y2368* probably null Het
Mtmr4 T A 11: 87,501,953 (GRCm39) V669E probably benign Het
Myh10 C T 11: 68,655,918 (GRCm39) R471C probably damaging Het
Nav1 G A 1: 135,380,671 (GRCm39) T1416I unknown Het
Nrip1 A C 16: 76,090,157 (GRCm39) S467A probably damaging Het
Ntrk1 T A 3: 87,695,941 (GRCm39) N190Y probably damaging Het
Or14a256 A T 7: 86,265,763 (GRCm39) L30Q probably null Het
Or5h25 A C 16: 58,930,964 (GRCm39) M3R probably benign Het
Pdxp A G 15: 78,802,611 (GRCm39) S282G probably damaging Het
Phtf2 A T 5: 21,006,904 (GRCm39) S220T probably damaging Het
Piezo2 A T 18: 63,157,540 (GRCm39) V2390E probably damaging Het
Pop1 T G 15: 34,529,229 (GRCm39) L783R probably benign Het
Prf1 G A 10: 61,135,972 (GRCm39) A83T probably benign Het
Rab4b A G 7: 26,875,267 (GRCm39) V50A probably benign Het
Rtn1 T A 12: 72,351,100 (GRCm39) T370S probably benign Het
Sdr16c5 T A 4: 4,012,423 (GRCm39) I123F probably damaging Het
Smg6 T A 11: 75,046,991 (GRCm39) V1228D probably damaging Het
Smim19 A G 8: 22,963,539 (GRCm39) V23A probably benign Het
Tap1 T A 17: 34,412,165 (GRCm39) Y457N probably damaging Het
Tbck C T 3: 132,458,427 (GRCm39) P686S probably damaging Het
Tcof1 A G 18: 60,965,010 (GRCm39) S570P unknown Het
Tmc5 A T 7: 118,271,449 (GRCm39) M921L probably benign Het
Ttc6 A G 12: 57,772,462 (GRCm39) Y1594C possibly damaging Het
Virma T A 4: 11,546,008 (GRCm39) H1615Q probably damaging Het
Vmn1r19 T A 6: 57,382,037 (GRCm39) Y197N probably damaging Het
Vps13c T C 9: 67,845,068 (GRCm39) F2051L probably damaging Het
Wdr6 C T 9: 108,451,765 (GRCm39) C706Y probably damaging Het
Zfand4 A G 6: 116,261,736 (GRCm39) N100D probably damaging 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
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 1 133,312,369 (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'- CCTGCAGGTGACAGAGACAATG -3'
(R):5'- TGCGCATCTGAGAGAGTTG -3'

Sequencing Primer
(F):5'- ACAATGTGGGCATGAGTACTTCCTC -3'
(R):5'- GCATCTGAGAGAGTTGCCTCATTC -3'
Posted On 2019-06-07