Incidental Mutation 'R7150:Sox13'
ID554038
Institutional Source Beutler Lab
Gene Symbol Sox13
Ensembl Gene ENSMUSG00000070643
Gene NameSRY (sex determining region Y)-box 13
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7150 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location133382303-133424377 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 133385505 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 438 (F438L)
Ref Sequence ENSEMBL: ENSMUSP00000092130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094551] [ENSMUST00000144386] [ENSMUST00000153799]
Predicted Effect possibly damaging
Transcript: ENSMUST00000094551
AA Change: F438L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092130
Gene: ENSMUSG00000070643
AA Change: F438L

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 possibly damaging
Transcript: ENSMUST00000144386
AA Change: F419L

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122980
Gene: ENSMUSG00000070643
AA Change: F419L

DomainStartEndE-ValueType
coiled coil region 153 197 N/A INTRINSIC
HMG 396 466 3.09e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000153799
AA Change: F438L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119729
Gene: ENSMUSG00000070643
AA Change: F438L

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
Meta Mutation Damage Score 0.1691 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik T C 8: 124,862,914 D20G possibly damaging Het
5430401F13Rik T C 6: 131,552,667 S75P probably benign Het
9530003J23Rik T C 10: 117,237,742 N62S probably benign Het
Acad8 A T 9: 26,978,454 F315I probably damaging Het
Adcy5 A G 16: 35,298,534 Y1085C probably damaging Het
Aldh1a7 T C 19: 20,716,018 K179R probably damaging Het
Arhgap10 C T 8: 77,250,954 G776R probably damaging Het
Arhgap35 A C 7: 16,562,566 F858C probably damaging Het
Ash1l C T 3: 89,077,074 R2957W probably damaging Het
Atp6ap1l G T 13: 90,883,729 A278E probably damaging Het
Btn1a1 A T 13: 23,459,351 D309E probably damaging Het
Casd1 C T 6: 4,624,211 R335C probably benign Het
Ceacam3 A G 7: 17,151,562 Q30R Het
Cfap20 C T 8: 95,422,167 C119Y probably damaging Het
Cntrl A T 2: 35,165,445 probably null Het
Crot A G 5: 8,987,878 V146A probably damaging Het
Cx3cl1 A G 8: 94,779,963 S199G probably damaging Het
D5Ertd577e A G 5: 95,482,821 I186V possibly damaging Het
Ddhd1 A T 14: 45,657,806 L69Q probably damaging Het
Dnah12 T C 14: 26,861,732 F3195L probably damaging Het
Dpy19l3 A T 7: 35,708,630 D450E probably benign Het
Ercc3 A T 18: 32,257,272 N538I probably damaging Het
Fzd1 A T 5: 4,756,145 V479E probably benign Het
Gart T C 16: 91,628,463 Y638C possibly damaging Het
Gm2381 C A 7: 42,820,464 V79L probably benign Het
Gucy1b1 T C 3: 82,043,162 Y312C probably damaging Het
Hecw1 T A 13: 14,434,460 M1L probably benign Het
Ip6k2 A G 9: 108,796,731 I99V unknown Het
Itgb5 C T 16: 33,940,643 T616I probably benign Het
Kmt2c A C 5: 25,300,362 V3316G possibly damaging Het
Lama3 C T 18: 12,468,289 R1008C probably damaging Het
Lin54 T C 5: 100,485,300 D175G possibly damaging Het
Lrp2 A G 2: 69,488,051 S2019P probably damaging Het
Lrrc9 A G 12: 72,466,952 E528G probably benign Het
Mto1 A G 9: 78,457,283 H299R probably damaging Het
Myo19 G A 11: 84,905,613 G684R probably benign Het
Olfr297 A C 7: 86,527,114 D119A probably damaging Het
Olfr851 A T 9: 19,496,849 M34L probably benign Het
Pcdh18 C A 3: 49,754,694 C724F probably benign Het
Pcdha3 A T 18: 36,947,112 K302N probably benign Het
Pcdhgb2 T C 18: 37,692,247 F764L possibly damaging Het
Pik3cb C A 9: 99,093,090 G246W probably damaging Het
Polr2m A T 9: 71,483,344 I192N probably damaging Het
Polr2m G T 9: 71,483,533 T129K probably benign Het
Ptpn4 C T 1: 119,691,745 probably null Het
Scgb1b19 A T 7: 33,287,515 K30N possibly damaging Het
Shpk A G 11: 73,213,489 T155A probably damaging Het
Slit3 T C 11: 35,570,719 Y261H probably damaging Het
Sphk1 A T 11: 116,535,081 E61D probably benign Het
St18 A G 1: 6,803,019 D326G probably damaging Het
Syde1 G A 10: 78,586,198 Q566* probably null Het
Tacc2 A G 7: 130,729,077 T254A probably benign Het
Tbc1d1 A G 5: 64,173,484 E2G probably damaging Het
Trim5 A T 7: 104,276,810 N181K probably damaging Het
Trpc7 A T 13: 56,783,696 I730K probably benign Het
Uqcrc1 T A 9: 108,947,858 M377K probably benign Het
Vmn2r4 T C 3: 64,398,477 N508S probably benign Het
Vmp1 A T 11: 86,586,576 S333T probably benign Het
Vps50 T A 6: 3,578,854 M639K possibly damaging Het
Zfp874b A T 13: 67,474,503 C225* probably null Het
Other mutations in Sox13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Sox13 APN 1 133387106 missense probably benign 0.02
IGL01147:Sox13 APN 1 133393135 missense probably benign
IGL01586:Sox13 APN 1 133389444 missense possibly damaging 0.70
IGL02750:Sox13 APN 1 133383796 missense probably benign 0.17
IGL02902:Sox13 APN 1 133389466 missense probably damaging 1.00
IGL03388:Sox13 APN 1 133388948 missense probably damaging 0.99
PIT4802001:Sox13 UTSW 1 133386258 missense probably damaging 1.00
R0515:Sox13 UTSW 1 133383719 missense probably damaging 1.00
R1328:Sox13 UTSW 1 133383817 missense probably damaging 0.99
R3766:Sox13 UTSW 1 133390798 missense possibly damaging 0.92
R4591:Sox13 UTSW 1 133383683 missense probably damaging 1.00
R4613:Sox13 UTSW 1 133388934 missense probably benign 0.29
R5715:Sox13 UTSW 1 133386183 critical splice donor site probably null
R5909:Sox13 UTSW 1 133383889 missense probably benign 0.04
R6155:Sox13 UTSW 1 133393267 missense probably damaging 1.00
R7225:Sox13 UTSW 1 133387124 missense probably benign 0.10
R7232:Sox13 UTSW 1 133384391 intron probably null
R7443:Sox13 UTSW 1 133384573 missense probably damaging 1.00
R7443:Sox13 UTSW 1 133384631 missense probably damaging 1.00
X0021:Sox13 UTSW 1 133385998 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAGGATCCAGCTGCCAAGAAC -3'
(R):5'- TCTATGAGCCTCATCAGTGCC -3'

Sequencing Primer
(F):5'- CATCTCAACTGCTACACCTGGTAAG -3'
(R):5'- TCATCAGTGCCTCCTGGTGG -3'
Posted On2019-05-15