Mutagenetix > Incidental Mutation

Incidental Mutation 'R5915:Sox8'

461291

Institutional Source

Beutler Lab

Gene Symbol

Sox8

Ensembl Gene

ENSMUSG00000024176

Gene Name

SRY (sex determining region Y)-box 8

Synonyms

MMRRC Submission

044112-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25784866-25789660 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 25786443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 420 (L420R)

Ref Sequence

ENSEMBL: ENSMUSP00000025003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025003] [ENSMUST00000173447]

AlphaFold

Q04886

Predicted Effect

probably damaging
Transcript: ENSMUST00000025003
AA Change: L420R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025003
Gene: ENSMUSG00000024176
AA Change: L420R

Domain	Start	End	E-Value	Type
Pfam:Sox_N	18	86	3.8e-27	PFAM
HMG	98	168	3.86e-28	SMART
low complexity region	208	228	N/A	INTRINSIC
low complexity region	303	321	N/A	INTRINSIC
low complexity region	375	397	N/A	INTRINSIC
low complexity region	407	425	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163493

Predicted Effect

probably benign
Transcript: ENSMUST00000173447

SMART Domains

Protein: ENSMUSP00000133403
Gene: ENSMUSG00000024176

Domain	Start	End	E-Value	Type
Pfam:Sox_N	3	87	3.3e-25	PFAM
HMG	98	168	3.86e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174560

SMART Domains

Protein: ENSMUSP00000133742
Gene: ENSMUSG00000024176

Domain	Start	End	E-Value	Type
HMG	1	66	1.19e-19	SMART

Meta Mutation Damage Score

0.2574

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (60/61)

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 the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a 30% decrease in adult body weight due to diminished fat stores, and a reduction of several tarsals which subsequently fail to fuse. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,644,122 (GRCm39)	V940E	probably damaging	Het
Adgrg7	A	T	16: 56,550,748 (GRCm39)		probably null	Het
Alox12e	T	C	11: 70,209,050 (GRCm39)	I399V	possibly damaging	Het
Apoa5	C	A	9: 46,180,607 (GRCm39)	Q42K	probably damaging	Het
Arfgap1	A	G	2: 180,620,215 (GRCm39)	Y243C	possibly damaging	Het
Arhgap12	A	G	18: 6,037,016 (GRCm39)		probably null	Het
Arl16	G	A	11: 120,357,431 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,370,577 (GRCm39)	D951G	probably damaging	Het
Babam2	T	A	5: 31,942,955 (GRCm39)	L80Q	probably damaging	Het
Celsr1	C	T	15: 85,822,176 (GRCm39)	V1714I	probably benign	Het
Celsr1	C	T	15: 85,914,550 (GRCm39)	R1141H	probably damaging	Het
Cep295	A	G	9: 15,252,775 (GRCm39)	L351P	probably damaging	Het
Dlc1	T	A	8: 37,405,829 (GRCm39)		probably benign	Het
Dpy30	G	T	17: 74,622,906 (GRCm39)	D25E	probably benign	Het
Drosha	T	C	15: 12,935,152 (GRCm39)	W998R	probably damaging	Het
Fibp	A	G	19: 5,513,644 (GRCm39)	D220G	possibly damaging	Het
Grm3	C	T	5: 9,561,927 (GRCm39)	C641Y	probably damaging	Het
Gulo	A	T	14: 66,245,570 (GRCm39)	V8D	probably benign	Het
Ifrd1	A	T	12: 40,263,095 (GRCm39)	C164S	possibly damaging	Het
Jam2	G	A	16: 84,606,295 (GRCm39)	S103N	probably benign	Het
Krtap17-1	T	C	11: 99,884,444 (GRCm39)	T108A	unknown	Het
Man2a2	A	G	7: 80,010,669 (GRCm39)	F774S	probably benign	Het
Map1b	G	A	13: 99,566,839 (GRCm39)	R1961W	unknown	Het
Mib2	A	G	4: 155,740,508 (GRCm39)		probably benign	Het
Mr1	A	T	1: 155,012,534 (GRCm39)	F127I	probably damaging	Het
Mrgprb2	A	G	7: 48,202,554 (GRCm39)	I57T	probably benign	Het
Ncan	G	T	8: 70,550,731 (GRCm39)	Y1154*	probably null	Het
Nfx1	T	A	4: 40,977,285 (GRCm39)	S320T	probably benign	Het
Nlrp4f	A	G	13: 65,335,369 (GRCm39)	L740P	probably damaging	Het
Nprl2	T	C	9: 107,422,277 (GRCm39)		probably benign	Het
Opn1sw	A	G	6: 29,379,754 (GRCm39)		probably null	Het
Or5bw2	A	T	7: 6,573,172 (GRCm39)	I61F	probably benign	Het
Palld	A	G	8: 61,986,386 (GRCm39)		probably null	Het
Phf14	T	A	6: 11,933,726 (GRCm39)	M196K	possibly damaging	Het
Rnf145	T	C	11: 44,433,549 (GRCm39)		probably null	Het
Sbf2	A	T	7: 109,977,303 (GRCm39)	C610*	probably null	Het
Sec24a	C	T	11: 51,646,964 (GRCm39)	A13T	probably benign	Het
Smim8	TCTCCTC	TCTC	4: 34,769,010 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,612 (GRCm39)	Q349H	unknown	Het
Sspo	A	G	6: 48,441,530 (GRCm39)	D1889G	probably benign	Het
Sspo	A	T	6: 48,468,418 (GRCm39)	H4382L	possibly damaging	Het
Tmem65	T	C	15: 58,662,037 (GRCm39)	I141V	probably damaging	Het
Tpr	A	T	1: 150,301,400 (GRCm39)	T1329S	probably benign	Het
Trim17	C	T	11: 58,859,388 (GRCm39)	R201W	probably damaging	Het
Trim3	A	G	7: 105,267,182 (GRCm39)	L399P	possibly damaging	Het
Trim7	A	G	11: 48,736,477 (GRCm39)	D277G	possibly damaging	Het
Vstm2b	A	G	7: 40,552,107 (GRCm39)	N153S	possibly damaging	Het
Wnk2	G	T	13: 49,231,561 (GRCm39)	Q786K	probably damaging	Het
Wnk4	A	G	11: 101,154,720 (GRCm39)	*286W	probably null	Het
Xpot	A	T	10: 121,450,998 (GRCm39)	L134Q	probably damaging	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zc3h7a	G	A	16: 10,982,466 (GRCm39)	Q20*	probably null	Het
Zfp599	C	T	9: 22,161,130 (GRCm39)	C345Y	probably damaging	Het

Other mutations in Sox8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01417:Sox8	APN	17	25,786,502 (GRCm39)	splice site	probably null
IGL01918:Sox8	APN	17	25,789,111 (GRCm39)	missense	probably damaging	1.00
IGL02672:Sox8	APN	17	25,787,963 (GRCm39)	missense	probably damaging	1.00
IGL03371:Sox8	APN	17	25,786,414 (GRCm39)	missense	probably damaging	1.00
R1398:Sox8	UTSW	17	25,786,857 (GRCm39)	missense	probably benign	0.01
R1673:Sox8	UTSW	17	25,786,456 (GRCm39)	missense	possibly damaging	0.77
R1742:Sox8	UTSW	17	25,786,915 (GRCm39)	missense	probably damaging	0.99
R4019:Sox8	UTSW	17	25,789,271 (GRCm39)	missense	probably damaging	1.00
R4353:Sox8	UTSW	17	25,786,309 (GRCm39)	makesense	probably null
R4466:Sox8	UTSW	17	25,787,879 (GRCm39)	missense	probably benign	0.37
R4893:Sox8	UTSW	17	25,787,963 (GRCm39)	missense	probably damaging	1.00
R4929:Sox8	UTSW	17	25,789,330 (GRCm39)	missense	probably benign	0.21
R6114:Sox8	UTSW	17	25,786,494 (GRCm39)	missense	probably damaging	1.00
R6915:Sox8	UTSW	17	25,786,888 (GRCm39)	missense	probably damaging	1.00
R7030:Sox8	UTSW	17	25,789,082 (GRCm39)	critical splice donor site	probably null
R7232:Sox8	UTSW	17	25,786,514 (GRCm39)	missense	probably benign	0.01
R7549:Sox8	UTSW	17	25,786,935 (GRCm39)	missense	probably damaging	0.99
R8262:Sox8	UTSW	17	25,786,617 (GRCm39)	missense	possibly damaging	0.89
R8862:Sox8	UTSW	17	25,787,045 (GRCm39)	missense	possibly damaging	0.81
R9015:Sox8	UTSW	17	25,789,135 (GRCm39)	missense	probably damaging	1.00
R9109:Sox8	UTSW	17	25,787,813 (GRCm39)	missense	possibly damaging	0.94
R9387:Sox8	UTSW	17	25,786,338 (GRCm39)	missense	probably damaging	1.00
R9406:Sox8	UTSW	17	25,786,634 (GRCm39)	missense	probably damaging	1.00
R9646:Sox8	UTSW	17	25,786,871 (GRCm39)	missense	probably benign	0.00
Z1177:Sox8	UTSW	17	25,787,958 (GRCm39)	missense	probably damaging	1.00
Z1177:Sox8	UTSW	17	25,786,717 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGGAAGAACTCAAAGATCTGGC -3'
(R):5'- CTTCGGCCACAGATCAAGAC -3'

Sequencing Primer
(F):5'- CAAAGATCTGGCTAGACTTCCTGG -3'
(R):5'- GCAGCTGAGTCCTAGCCACTAC -3'

Posted On

2017-02-28