Mutagenetix > Incidental Mutations

Incidental Mutation 'R7225:Sox13'

562073

Institutional Source

Beutler Lab

Gene Symbol

Sox13

Ensembl Gene

ENSMUSG00000070643

Gene Name

SRY (sex determining region Y)-box 13

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133382303-133424377 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133387124 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 266 (V266E)

Ref Sequence

ENSEMBL: ENSMUSP00000092130 (fasta)

Gene Model

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

AlphaFold

Q04891

Predicted Effect

probably benign
Transcript: ENSMUST00000094551
AA Change: V266E

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000092130
Gene: ENSMUSG00000070643
AA Change: V266E

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

probably benign
Transcript: ENSMUST00000144386
AA Change: V247E

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122980
Gene: ENSMUSG00000070643
AA Change: V247E

Domain	Start	End	E-Value	Type
coiled coil region	153	197	N/A	INTRINSIC
HMG	396	466	3.09e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153799
AA Change: V266E

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000119729
Gene: ENSMUSG00000070643
AA Change: V266E

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

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
1700001K19Rik	T	C	12: 110,670,865		probably benign	Het
5430403G16Rik	T	C	5: 109,677,149	H145R	possibly damaging	Het
5730480H06Rik	T	A	5: 48,380,233		probably null	Het
Actn4	A	T	7: 28,898,699	V492D	probably damaging	Het
Alpk2	T	C	18: 65,305,199	E1041G	probably benign	Het
Asap1	G	A	15: 64,130,250	T404M	probably damaging	Het
Cd22	C	T	7: 30,877,634	A83T	not run	Het
Cdan1	T	C	2: 120,724,912	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,073	S733F	probably damaging	Het
Cfap54	A	G	10: 92,904,374	F2282S	unknown	Het
Chst9	T	C	18: 15,452,661	K282E	probably damaging	Het
Clcn1	G	A	6: 42,293,462	D232N	probably damaging	Het
Clpb	T	A	7: 101,711,465	L234Q	probably damaging	Het
Cluh	T	G	11: 74,666,406		probably null	Het
Cnp	C	T	11: 100,580,587	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Dtx3	C	T	10: 127,191,489	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756	I1156T	probably benign	Het
Epg5	T	A	18: 78,012,702	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,423,624	D211G	probably benign	Het
Fank1	A	G	7: 133,853,259	K36R	probably benign	Het
Fat4	T	C	3: 38,980,176	I2659T	possibly damaging	Het
Fer1l5	T	C	1: 36,420,952	W1893R	possibly damaging	Het
Gorasp2	T	A	2: 70,684,047	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,552,298	V528G	probably damaging	Het
Gria2	T	A	3: 80,802,631		probably benign	Het
Htatip2	A	G	7: 49,770,856	E150G	possibly damaging	Het
Jak3	C	A	8: 71,685,511	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,226,065	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,175,693	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,746,914	V88A	probably benign	Het
Lmod3	T	A	6: 97,247,384	D492V	probably benign	Het
Lurap1l	A	C	4: 80,911,481	S43R	probably benign	Het
Mamdc4	T	C	2: 25,565,546	H890R	possibly damaging	Het
Mertk	T	G	2: 128,801,562	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,065,100	D346E	probably benign	Het
Olfr1434	A	T	19: 12,283,467	T140S	probably benign	Het
Opa1	A	G	16: 29,614,039		probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Paxbp1	T	C	16: 91,027,068	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,444,437	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,546,941	V2615F	probably damaging	Het
Plin3	T	C	17: 56,286,541	T58A	possibly damaging	Het
Por	A	G	5: 135,732,587	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,468,579	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,472,846	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,929	G1006E	possibly damaging	Het
Rnf219	T	C	14: 104,479,858	T360A	probably benign	Het
Rpl12	C	T	2: 32,961,897		probably benign	Het
Rpsa	T	G	9: 120,131,156	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,267,389	N991K	probably damaging	Het
Shank2	T	A	7: 144,285,025	N19K	probably benign	Het
Sik1	T	C	17: 31,854,300	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,399,428	V472G	probably damaging	Het
Sirt6	A	G	10: 81,622,481	S313P	probably benign	Het
Slc12a7	A	G	13: 73,763,962		probably benign	Het
Spag9	T	C	11: 94,097,358	C833R	probably damaging	Het
Tcof1	T	C	18: 60,828,448	T812A	unknown	Het
Tnfsf4	A	G	1: 161,417,250	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,769,657	N357S	probably damaging	Het
Txk	C	T	5: 72,700,714	D418N	probably damaging	Het
Ube2j2	A	G	4: 155,949,316		probably null	Het
Vmn2r84	G	A	10: 130,386,683	P556L	probably damaging	Het
Zfp442	T	C	2: 150,409,005	N326D	probably benign	Het

Other mutations in Sox13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7150:Sox13	UTSW	1	133385505	missense	possibly damaging	0.89
R7232:Sox13	UTSW	1	133384391	splice site	probably null
R7443:Sox13	UTSW	1	133384573	missense	probably damaging	1.00
R7443:Sox13	UTSW	1	133384631	missense	probably damaging	1.00
R8181:Sox13	UTSW	1	133383760	missense	probably benign	0.04
R9200:Sox13	UTSW	1	133386005	missense	probably damaging	0.98
X0021:Sox13	UTSW	1	133385998	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTGTTCATCTTCAGGCTGGG -3'
(R):5'- AGATGGTTCCCTGCACTACC -3'

Sequencing Primer
(F):5'- TGGGCAGCTCAGGTACCTTG -3'
(R):5'- TGCACTACCTTAGCCTGACAAC -3'

Posted On

2019-06-26