Mutagenetix > Incidental Mutation

Incidental Mutation 'R5291:Qsox2'

405123

Institutional Source

Beutler Lab

Gene Symbol

Qsox2

Ensembl Gene

ENSMUSG00000036327

Gene Name

quiescin Q6 sulfhydryl oxidase 2

Synonyms

Qscn6l1, QSOX2

MMRRC Submission

042874-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26099136-26127411 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26107710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 261 (L261H)

Ref Sequence

ENSEMBL: ENSMUSP00000088807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036187] [ENSMUST00000091263]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000036187
AA Change: L426H

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

SMART Domains

Protein: ENSMUSP00000037128
Gene: ENSMUSG00000036327
AA Change: L426H

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
Pfam:Thioredoxin	59	166	1.7e-15	PFAM
low complexity region	295	310	N/A	INTRINSIC
Blast:HOX	355	398	6e-14	BLAST
Pfam:Evr1_Alr	424	525	3.4e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000091263
AA Change: L261H

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

SMART Domains

Protein: ENSMUSP00000088807
Gene: ENSMUSG00000036327
AA Change: L261H

Domain	Start	End	E-Value	Type
low complexity region	130	145	N/A	INTRINSIC
Blast:HOX	190	233	1e-13	BLAST
Pfam:Evr1_Alr	259	361	2.4e-30	PFAM
transmembrane domain	490	512	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the sulfhydryl oxidase protein family. Members of this family catalyze formation of disulfide bonds. A similar protein in humans may sensitize neuroblastoma cells to interferon gamma-induced cell death. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,823,394 (GRCm39)	S328G	probably damaging	Het
Acot5	T	G	12: 84,120,293 (GRCm39)	L216R	probably benign	Het
Ankrd6	A	G	4: 32,823,446 (GRCm39)	L192P	probably damaging	Het
Atp6v1e1	C	A	6: 120,795,294 (GRCm39)		probably null	Het
Bbs9	T	C	9: 22,540,293 (GRCm39)	Y358H	probably damaging	Het
Bend7	G	A	2: 4,768,052 (GRCm39)	R336Q	probably damaging	Het
Camk2a	A	G	18: 61,090,236 (GRCm39)	K192R	probably damaging	Het
Ceacam1	T	A	7: 25,171,256 (GRCm39)	R223W	probably damaging	Het
Cntn6	T	A	6: 104,703,096 (GRCm39)	F173I	probably damaging	Het
Cntrl	A	C	2: 35,024,072 (GRCm39)	I33L	probably damaging	Het
Crybg2	T	C	4: 133,800,738 (GRCm39)	S633P	probably benign	Het
Cyp2j13	T	C	4: 95,956,566 (GRCm39)	H181R	probably damaging	Het
Dlgap1	A	G	17: 71,025,205 (GRCm39)	S542G	probably benign	Het
Dnm2	T	G	9: 21,390,203 (GRCm39)	L402R	probably damaging	Het
Fndc3b	C	A	3: 27,697,144 (GRCm39)	V23L	probably benign	Het
Gata4	A	C	14: 63,478,048 (GRCm39)	F184V	probably damaging	Het
Gcnt2	A	G	13: 41,072,268 (GRCm39)	R304G	probably damaging	Het
Gm10563	TTTC	TTTCCTTC	4: 155,698,969 (GRCm39)		probably benign	Het
Gm26558	G	A	2: 70,491,873 (GRCm39)		probably benign	Het
Grip1	G	A	10: 119,922,874 (GRCm39)	V1107I	probably benign	Het
Herpud2	C	T	9: 25,036,256 (GRCm39)	G135S	probably benign	Het
Lrp1	A	G	10: 127,429,747 (GRCm39)	I441T	probably damaging	Het
Lrp1b	T	C	2: 40,793,015 (GRCm39)	D2553G	probably damaging	Het
Mkln1	T	A	6: 31,467,416 (GRCm39)	N43K	possibly damaging	Het
Or4c12	A	T	2: 89,773,780 (GRCm39)	Y226*	probably null	Het
Or5k17	T	C	16: 58,746,764 (GRCm39)	T57A	possibly damaging	Het
Paxbp1	C	T	16: 90,841,240 (GRCm39)	M1I	probably null	Het
Phip	A	G	9: 82,827,936 (GRCm39)	Y97H	probably damaging	Het
Plec	T	A	15: 76,058,211 (GRCm39)	I3774F	probably damaging	Het
Pramel11	G	T	4: 143,622,237 (GRCm39)	P373T	probably damaging	Het
Prrc2c	C	A	1: 162,533,151 (GRCm39)		probably benign	Het
Prss12	T	C	3: 123,299,112 (GRCm39)	L628P	probably damaging	Het
Ptpre	G	A	7: 135,280,030 (GRCm39)	V578I	probably benign	Het
Rapgef2	A	T	3: 78,977,366 (GRCm39)	V1327E	possibly damaging	Het
Rnf216	A	G	5: 143,075,967 (GRCm39)	S306P	probably benign	Het
Rtel1	A	G	2: 180,993,888 (GRCm39)	Q640R	possibly damaging	Het
Ryr1	T	A	7: 28,815,023 (GRCm39)	D175V	probably benign	Het
Scarf1	T	C	11: 75,414,900 (GRCm39)	S525P	probably damaging	Het
Senp7	T	A	16: 56,006,542 (GRCm39)	Y982*	probably null	Het
Slc35b2	T	C	17: 45,877,424 (GRCm39)	Y184H	probably damaging	Het
Sned1	A	G	1: 93,223,446 (GRCm39)	K1375E	possibly damaging	Het
Spats2	G	T	15: 99,076,422 (GRCm39)	A167S	probably benign	Het
Spen	C	A	4: 141,215,390 (GRCm39)	A481S	unknown	Het
Spred3	T	A	7: 28,867,255 (GRCm39)	H47L	probably damaging	Het
Srsf4	T	A	4: 131,613,617 (GRCm39)		probably benign	Het
Tdrd3	A	T	14: 87,743,234 (GRCm39)	H394L	probably benign	Het
Terf1	A	G	1: 15,889,310 (GRCm39)		probably null	Het
Txlnb	A	T	10: 17,675,144 (GRCm39)	D99V	possibly damaging	Het
Ugt1a7c	A	T	1: 88,023,231 (GRCm39)	N130I	possibly damaging	Het
Vmn2r50	T	A	7: 9,781,752 (GRCm39)	D331V	probably damaging	Het
Vps13d	A	G	4: 144,789,139 (GRCm39)	I744T	probably damaging	Het
Ythdc1	A	G	5: 86,983,547 (GRCm39)	D664G	probably damaging	Het

Other mutations in Qsox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Qsox2	APN	2	26,112,267 (GRCm39)	missense	probably benign	0.15
IGL01067:Qsox2	APN	2	26,118,408 (GRCm39)	missense	probably damaging	1.00
IGL01105:Qsox2	APN	2	26,099,697 (GRCm39)	missense	probably benign	0.00
IGL02420:Qsox2	APN	2	26,110,731 (GRCm39)	missense	probably benign	0.07
IGL03323:Qsox2	APN	2	26,110,991 (GRCm39)	missense	probably benign
PIT4377001:Qsox2	UTSW	2	26,110,924 (GRCm39)	missense	probably damaging	0.99
PIT4677001:Qsox2	UTSW	2	26,112,320 (GRCm39)	missense	probably damaging	1.00
PIT4687001:Qsox2	UTSW	2	26,112,300 (GRCm39)	missense	possibly damaging	0.93
R0559:Qsox2	UTSW	2	26,104,169 (GRCm39)	missense	probably benign	0.05
R0594:Qsox2	UTSW	2	26,104,056 (GRCm39)	missense	probably damaging	1.00
R1055:Qsox2	UTSW	2	26,104,137 (GRCm39)	missense	probably damaging	1.00
R1657:Qsox2	UTSW	2	26,110,759 (GRCm39)	nonsense	probably null
R1727:Qsox2	UTSW	2	26,110,970 (GRCm39)	missense	probably benign	0.00
R1746:Qsox2	UTSW	2	26,110,650 (GRCm39)	missense	probably benign
R1858:Qsox2	UTSW	2	26,104,074 (GRCm39)	missense	probably damaging	1.00
R2309:Qsox2	UTSW	2	26,118,445 (GRCm39)	missense	possibly damaging	0.61
R5298:Qsox2	UTSW	2	26,104,074 (GRCm39)	missense	probably damaging	0.96
R5524:Qsox2	UTSW	2	26,107,699 (GRCm39)	missense	probably damaging	1.00
R5567:Qsox2	UTSW	2	26,115,230 (GRCm39)	start codon destroyed	probably null
R5570:Qsox2	UTSW	2	26,115,230 (GRCm39)	start codon destroyed	probably null
R5965:Qsox2	UTSW	2	26,112,233 (GRCm39)	missense	probably benign	0.06
R6529:Qsox2	UTSW	2	26,107,753 (GRCm39)	missense	probably damaging	1.00
R6957:Qsox2	UTSW	2	26,107,654 (GRCm39)	missense	probably benign	0.40
R7185:Qsox2	UTSW	2	26,110,718 (GRCm39)	missense	possibly damaging	0.63
R7250:Qsox2	UTSW	2	26,118,444 (GRCm39)	missense	probably damaging	1.00
R7637:Qsox2	UTSW	2	26,111,032 (GRCm39)	missense	probably damaging	1.00
R8076:Qsox2	UTSW	2	26,114,897 (GRCm39)	missense	possibly damaging	0.55
R9038:Qsox2	UTSW	2	26,115,246 (GRCm39)	missense	probably damaging	1.00
R9316:Qsox2	UTSW	2	26,101,085 (GRCm39)	nonsense	probably null
R9316:Qsox2	UTSW	2	26,101,084 (GRCm39)	missense	probably benign	0.41
Z1176:Qsox2	UTSW	2	26,107,678 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCTCACCTCTACACTTAGTGTG -3'
(R):5'- TGATCATCTCCCCACTCAAGGC -3'

Sequencing Primer
(F):5'- GGCACCTCATACATATCAAGGCTTTG -3'
(R):5'- TCAAGGCCAGAAGCATCCTG -3'

Posted On

2016-07-22