Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02902:Sox13'

363646

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02902

Quality Score

Status

Chromosome

Chromosomal Location

133310041-133352115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133317204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 143 (L143P)

Ref Sequence

ENSEMBL: ENSMUSP00000119729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094551] [ENSMUST00000144386] [ENSMUST00000153799]

AlphaFold

Q04891

Predicted Effect

probably damaging
Transcript: ENSMUST00000094551
AA Change: L143P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092130
Gene: ENSMUSG00000070643
AA Change: L143P

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000144386
AA Change: L125P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122980
Gene: ENSMUSG00000070643
AA Change: L125P

Domain	Start	End	E-Value	Type
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: L143P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119729
Gene: ENSMUSG00000070643
AA Change: L143P

Domain	Start	End	E-Value	Type
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

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	G	T	1: 85,974,087 (GRCm39)	V135F	possibly damaging	Het
Aatk	T	C	11: 119,902,603 (GRCm39)	T541A	probably benign	Het
Abcc1	T	C	16: 14,240,991 (GRCm39)	L516P	probably damaging	Het
Actl6a	T	A	3: 32,776,791 (GRCm39)	V350E	possibly damaging	Het
Afm	A	G	5: 90,674,222 (GRCm39)	K245E	possibly damaging	Het
Agr3	T	C	12: 35,996,915 (GRCm39)	V63A	probably damaging	Het
Arhgef28	A	T	13: 98,083,383 (GRCm39)	M1162K	probably damaging	Het
Casq2	T	A	3: 101,994,113 (GRCm39)	C53*	probably null	Het
Ccdc181	T	C	1: 164,107,470 (GRCm39)	V51A	probably benign	Het
Cd101	A	G	3: 100,926,310 (GRCm39)		probably benign	Het
Csdc2	T	C	15: 81,832,801 (GRCm39)	V69A	probably benign	Het
Cyp2c23	A	T	19: 44,009,997 (GRCm39)		probably benign	Het
Dnph1	A	G	17: 46,809,427 (GRCm39)		probably benign	Het
Egf	T	C	3: 129,474,796 (GRCm39)	T1124A	probably benign	Het
Gpr45	A	G	1: 43,072,371 (GRCm39)	E338G	possibly damaging	Het
Grb14	A	C	2: 64,768,762 (GRCm39)	L98R	probably damaging	Het
Gucy1a1	T	C	3: 82,026,224 (GRCm39)	S77G	possibly damaging	Het
Helb	A	G	10: 119,925,390 (GRCm39)	S996P	probably benign	Het
Huwe1	A	G	X: 150,669,762 (GRCm39)	E1405G	probably damaging	Het
Ifi47	T	C	11: 48,986,617 (GRCm39)	I128T	probably benign	Het
Ift140	T	A	17: 25,309,736 (GRCm39)	Y1089N	probably damaging	Het
Ift56	A	C	6: 38,402,097 (GRCm39)	S530R	probably benign	Het
Il1r1	A	T	1: 40,341,569 (GRCm39)	H324L	probably benign	Het
Irx1	C	T	13: 72,107,974 (GRCm39)	R236H	probably benign	Het
Itpr3	T	C	17: 27,323,530 (GRCm39)	V1185A	probably benign	Het
Kif19a	T	C	11: 114,676,396 (GRCm39)	V450A	possibly damaging	Het
Krtap21-1	G	T	16: 89,200,446 (GRCm39)	Y65*	probably null	Het
Ltn1	A	T	16: 87,176,693 (GRCm39)	N1704K	possibly damaging	Het
Med1	T	C	11: 98,047,335 (GRCm39)		probably benign	Het
Meis2	T	A	2: 115,893,804 (GRCm39)	H36L	probably damaging	Het
Mier2	T	C	10: 79,385,456 (GRCm39)	N124S	probably damaging	Het
Mmp20	A	G	9: 7,654,171 (GRCm39)		probably null	Het
Muc4	A	G	16: 32,569,212 (GRCm39)	T91A	possibly damaging	Het
Myo3b	T	A	2: 70,119,745 (GRCm39)	V935E	probably benign	Het
Ndufa7	T	C	17: 34,048,632 (GRCm39)		probably benign	Het
Nipal1	A	G	5: 72,825,405 (GRCm39)	E366G	possibly damaging	Het
Nobox	A	T	6: 43,282,617 (GRCm39)	N263K	probably benign	Het
Notch2	A	G	3: 98,018,890 (GRCm39)	D684G	probably damaging	Het
Odr4	C	A	1: 150,260,179 (GRCm39)		probably null	Het
Or2t1	A	G	14: 14,328,789 (GRCm38)	H226R	probably benign	Het
Or4c12b	T	A	2: 89,647,508 (GRCm39)	Y273*	probably null	Het
Or5p69	C	A	7: 107,967,336 (GRCm39)	T213K	probably damaging	Het
Or5w13	T	C	2: 87,523,344 (GRCm39)	N294S	probably damaging	Het
Or6aa1	T	C	7: 86,043,743 (GRCm39)		probably benign	Het
Plau	A	C	14: 20,889,965 (GRCm39)	D270A	possibly damaging	Het
Pof1b	T	C	X: 111,558,809 (GRCm39)		probably null	Het
Pramel23	A	G	4: 143,424,913 (GRCm39)	C177R	probably damaging	Het
Prtn3	A	T	10: 79,717,767 (GRCm39)		probably null	Het
Ptges3	T	A	10: 127,904,616 (GRCm39)	D26E	probably benign	Het
Pxmp2	T	C	5: 110,429,160 (GRCm39)	E99G	probably benign	Het
Rasgef1a	A	G	6: 118,060,068 (GRCm39)	R106G	probably benign	Het
Rnf208	T	C	2: 25,133,774 (GRCm39)	V156A	probably benign	Het
Rps6ka1	A	T	4: 133,599,292 (GRCm39)	I45N	possibly damaging	Het
Rps6ka4	C	T	19: 6,809,623 (GRCm39)		probably null	Het
Rsbn1	G	T	3: 103,860,972 (GRCm39)	C466F	possibly damaging	Het
Shkbp1	A	T	7: 27,042,141 (GRCm39)	C605S	probably damaging	Het
Slc2a10	G	A	2: 165,360,142 (GRCm39)	D531N	probably benign	Het
Stx2	C	T	5: 129,069,285 (GRCm39)	R142Q	probably damaging	Het
Tanc1	T	A	2: 59,623,431 (GRCm39)		probably benign	Het
Tubgcp5	C	T	7: 55,456,355 (GRCm39)	Q316*	probably null	Het
Ubc	A	G	5: 125,463,293 (GRCm39)	V678A	probably benign	Het
Unc5d	G	A	8: 29,365,634 (GRCm39)	T117I	probably damaging	Het
Vmn2r4	T	C	3: 64,314,337 (GRCm39)	I126V	probably benign	Het
Zfp410	T	A	12: 84,378,594 (GRCm39)		probably null	Het

Other mutations in Sox13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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	133,312,369 (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

Posted On

2015-12-18