Mutagenetix > Incidental Mutation

Incidental Mutation 'R8181:Sox13'

634585

Institutional Source

Beutler Lab

Gene Symbol

Sox13

Ensembl Gene

ENSMUSG00000070643

Gene Name

SRY (sex determining region Y)-box 13

Synonyms

MMRRC Submission

067605-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133310041-133352115 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 133311498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 578 (T578K)

Ref Sequence

ENSEMBL: ENSMUSP00000092130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094551] [ENSMUST00000129213] [ENSMUST00000135222] [ENSMUST00000144386] [ENSMUST00000153799]

AlphaFold

Q04891

Predicted Effect

probably benign
Transcript: ENSMUST00000094551
AA Change: T578K

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

SMART Domains

Protein: ENSMUSP00000092130
Gene: ENSMUSG00000070643
AA Change: T578K

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: ENSMUST00000129213

SMART Domains

Protein: ENSMUSP00000122244
Gene: ENSMUSG00000070644

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000144386

SMART Domains

Protein: ENSMUSP00000122980
Gene: ENSMUSG00000070643

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: T578K

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

SMART Domains

Protein: ENSMUSP00000119729
Gene: ENSMUSG00000070643
AA Change: T578K

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: 99.5%
20x: 98.3%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,774,156 (GRCm39)	S1115N	probably damaging	Het
Abca1	A	G	4: 53,059,303 (GRCm39)	V1551A	probably benign	Het
Adam30	T	C	3: 98,070,291 (GRCm39)	I708T	probably benign	Het
Aknad1	T	A	3: 108,659,328 (GRCm39)	L114H	possibly damaging	Het
Akr1c18	G	A	13: 4,185,262 (GRCm39)	S290L	probably benign	Het
Aldh18a1	G	T	19: 40,545,881 (GRCm39)	D635E	probably benign	Het
Bax	G	T	7: 45,115,698 (GRCm39)	P23Q	probably null	Het
Bhlha15	A	T	5: 144,128,244 (GRCm39)	N119Y	probably damaging	Het
Boll	T	A	1: 55,402,478 (GRCm39)	M1L	probably benign	Het
C2cd2	A	T	16: 97,693,502 (GRCm39)	I123N	probably benign	Het
Cacnb4	A	C	2: 52,364,997 (GRCm39)	S89A	probably benign	Het
Calca	A	G	7: 114,234,387 (GRCm39)	C21R	probably benign	Het
Calcr	T	C	6: 3,693,899 (GRCm39)	I325M	probably benign	Het
Card14	T	A	11: 119,212,718 (GRCm39)	F94Y	probably damaging	Het
Chil3	A	C	3: 106,057,203 (GRCm39)	I247S	probably damaging	Het
Clca3b	T	C	3: 144,544,898 (GRCm39)	N363S	probably benign	Het
Cnksr3	A	G	10: 7,070,475 (GRCm39)	V494A	possibly damaging	Het
Cog4	A	G	8: 111,578,717 (GRCm39)		probably null	Het
Crybg1	T	A	10: 43,862,322 (GRCm39)	Y1484F	probably damaging	Het
Dglucy	A	G	12: 100,816,370 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,359,380 (GRCm39)		probably null	Het
Dscaml1	T	A	9: 45,658,140 (GRCm39)	I1637N	possibly damaging	Het
Ercc6	T	A	14: 32,279,905 (GRCm39)	I640N	probably damaging	Het
Esp16	G	T	17: 39,850,707 (GRCm39)	E29*	probably null	Het
Fam149a	T	C	8: 45,834,755 (GRCm39)	I15V	possibly damaging	Het
Flt4	T	A	11: 49,525,723 (GRCm39)	I724N	probably damaging	Het
Glb1	C	T	9: 114,259,429 (GRCm39)	R202C	probably damaging	Het
Gmpr2	C	A	14: 55,910,441 (GRCm39)	S41*	probably null	Het
Golgb1	T	A	16: 36,737,192 (GRCm39)	D2187E	probably damaging	Het
Gpsm2	A	G	3: 108,597,080 (GRCm39)		probably null	Het
Helz	A	G	11: 107,563,399 (GRCm39)	D1613G	unknown	Het
Hemgn	A	C	4: 46,396,504 (GRCm39)	M244R	possibly damaging	Het
Hsd3b1	A	T	3: 98,763,453 (GRCm39)	V56E	probably damaging	Het
Jup	A	T	11: 100,267,751 (GRCm39)	I524N	probably damaging	Het
Kdm1b	G	T	13: 47,205,377 (GRCm39)		probably null	Het
Kif11	A	T	19: 37,379,095 (GRCm39)		probably null	Het
Lars1	A	T	18: 42,361,835 (GRCm39)	W591R	probably damaging	Het
Lrtm1	T	A	14: 28,743,894 (GRCm39)	S121T	probably damaging	Het
Med12l	A	C	3: 59,169,389 (GRCm39)	D1593A	probably damaging	Het
Med17	A	T	9: 15,188,928 (GRCm39)	D112E	possibly damaging	Het
Mettl2	T	A	11: 105,019,866 (GRCm39)	F168I	probably benign	Het
Mmp9	A	T	2: 164,792,365 (GRCm39)	D323V	probably damaging	Het
Mpzl2	C	T	9: 44,961,006 (GRCm39)	T214I	probably benign	Het
Ms4a15	T	C	19: 10,958,670 (GRCm39)	H134R	probably benign	Het
Ms4a6d	T	A	19: 11,580,653 (GRCm39)	I2F	probably damaging	Het
Muc3a	G	A	5: 137,244,535 (GRCm39)	P206S	unknown	Het
Nectin2	C	A	7: 19,458,733 (GRCm39)	L359F	probably damaging	Het
Or2y6	C	A	11: 52,104,096 (GRCm39)	C240F	probably damaging	Het
Or4f53	T	A	2: 111,087,918 (GRCm39)	F153I	probably benign	Het
Pgm2	G	T	5: 64,269,467 (GRCm39)	C518F	possibly damaging	Het
Plppr4	A	G	3: 117,116,114 (GRCm39)	V581A	probably damaging	Het
Prkra	G	C	2: 76,469,634 (GRCm39)	L142V	probably damaging	Het
Prpf38a	G	A	4: 108,434,195 (GRCm39)	T74I	probably benign	Het
Ptprs	T	A	17: 56,736,064 (GRCm39)	N635I	probably damaging	Het
Rxfp2	A	G	5: 149,987,201 (GRCm39)	N361D	probably benign	Het
Ryr3	T	G	2: 112,608,588 (GRCm39)	I2351L	probably damaging	Het
Sfmbt2	A	T	2: 10,580,190 (GRCm39)	T618S	probably benign	Het
Six6	A	G	12: 72,986,906 (GRCm39)	D26G	probably damaging	Het
Slc20a1	T	C	2: 129,051,047 (GRCm39)	L568P	probably damaging	Het
Slx4ip	T	A	2: 136,842,104 (GRCm39)	C10S	probably damaging	Het
Spire2	A	T	8: 124,088,042 (GRCm39)	S509C	probably damaging	Het
Sptbn4	T	C	7: 27,074,808 (GRCm39)	D1521G	possibly damaging	Het
Sult2a7	T	C	7: 14,204,098 (GRCm39)	T207A	probably benign	Het
Sun2	A	G	15: 79,609,721 (GRCm39)	I708T	probably damaging	Het
Supt5	T	C	7: 28,030,899 (GRCm39)	E44G	unknown	Het
Thsd1	A	G	8: 22,733,022 (GRCm39)	E23G	probably damaging	Het
Ticrr	T	C	7: 79,310,728 (GRCm39)	V214A	possibly damaging	Het
Vmn2r74	A	T	7: 85,605,324 (GRCm39)	F441L	probably damaging	Het
Zfp30	A	G	7: 29,493,080 (GRCm39)	T526A	probably benign	Het
Zfp518a	G	T	19: 40,902,415 (GRCm39)	Q781H	probably damaging	Het
Zmynd11	A	G	13: 9,739,687 (GRCm39)	V434A	probably benign	Het
Zranb1	A	G	7: 132,585,508 (GRCm39)	D652G	probably damaging	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
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	133,312,369 (GRCm39)	missense	probably damaging	1.00
R7443:Sox13	UTSW	1	133,312,311 (GRCm39)	missense	probably damaging	1.00
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'- GATAGTTCAGGAAGGCTGGC -3'
(R):5'- GCACATGGGTACATCTGTAATTGC -3'

Sequencing Primer
(F):5'- TCAGGAAGGCTGGCTGTGC -3'
(R):5'- GGGTACATCTGTAATTGCGAATTTTC -3'

Posted On

2020-07-13