Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4377001:Qsox2'

554904

Institutional Source

Beutler Lab

Gene Symbol

Qsox2

Ensembl Gene

ENSMUSG00000036327

Gene Name

quiescin Q6 sulfhydryl oxidase 2

Synonyms

Qscn6l1, QSOX2

Accession Numbers

Essential gene?

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

Stock #

PIT4377001 (G1)

Quality Score

150.008

Status

Not validated

Chromosome

Chromosomal Location

26099136-26127411 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 26110924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 147 (D147A)

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: D312A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037128
Gene: ENSMUSG00000036327
AA Change: D312A

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: D147A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088807
Gene: ENSMUSG00000036327
AA Change: D147A

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: 92.9%
3x: 90.8%
10x: 85.9%
20x: 75.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	T	C	4: 39,451,129 (GRCm39)	C112R	possibly damaging	Het
Acadl	G	A	1: 66,877,564 (GRCm39)	T329M	probably damaging	Het
Adgrv1	A	G	13: 81,677,104 (GRCm39)	L1909P	probably damaging	Het
Aff3	A	C	1: 38,578,044 (GRCm39)	V31G	probably damaging	Het
Bag3	A	G	7: 128,147,441 (GRCm39)	D352G	probably damaging	Het
Bcas3	A	T	11: 85,386,668 (GRCm39)	T368S	probably damaging	Het
Bmp3	A	G	5: 99,027,608 (GRCm39)	I434V	unknown	Het
Casq1	T	A	1: 172,039,568 (GRCm39)	T336S	probably benign	Het
Cib2	T	G	9: 54,467,271 (GRCm39)	E11A	probably damaging	Het
Cttn	C	A	7: 143,993,833 (GRCm39)	E393D	possibly damaging	Het
Dchs1	G	A	7: 105,406,795 (GRCm39)	R2237W	probably damaging	Het
Dclre1a	C	T	19: 56,532,837 (GRCm39)	A586T	probably benign	Het
Defb1	C	A	8: 22,266,716 (GRCm39)	Q17K	possibly damaging	Het
Dgat2	T	C	7: 98,806,342 (GRCm39)	Y285C	probably damaging	Het
Dhx57	A	T	17: 80,571,404 (GRCm39)	F732Y	probably damaging	Het
Dock2	T	G	11: 34,611,835 (GRCm39)	D176A	probably benign	Het
Epha6	A	G	16: 60,025,915 (GRCm39)	I509T	probably damaging	Het
Fblim1	C	T	4: 141,322,720 (GRCm39)	R21H	probably damaging	Het
Fbxw20	T	A	9: 109,050,795 (GRCm39)	H371L	probably benign	Het
Foxa1	T	A	12: 57,589,567 (GRCm39)	I218F	probably damaging	Het
Fstl1	A	T	16: 37,636,167 (GRCm39)	I53F	probably benign	Het
Gdnf	A	G	15: 7,864,011 (GRCm39)	R141G	probably benign	Het
Gemin7	G	A	7: 19,299,242 (GRCm39)	R118*	probably null	Het
Gm43218	T	C	6: 70,217,565 (GRCm39)	T64A	probably benign	Het
Gnat3	G	A	5: 18,220,557 (GRCm39)	M243I		Het
Gramd1a	A	T	7: 30,843,095 (GRCm39)	I71N	possibly damaging	Het
H4c12	C	G	13: 21,934,654 (GRCm39)	G8R	unknown	Het
Htt	A	T	5: 35,033,309 (GRCm39)	D1859V	probably benign	Het
Hyal1	T	C	9: 107,456,468 (GRCm39)	F415S	probably damaging	Het
Ighv1-47	T	C	12: 114,954,858 (GRCm39)	N74S	probably benign	Het
Igkv1-131	T	C	6: 67,743,192 (GRCm39)	R64G	probably benign	Het
Itgb1	T	A	8: 129,436,864 (GRCm39)	V95D	probably damaging	Het
Jak1	A	C	4: 101,036,748 (GRCm39)	N297K	probably benign	Het
Kcna4	T	A	2: 107,127,205 (GRCm39)	N646K	possibly damaging	Het
Krt42	A	G	11: 100,153,931 (GRCm39)	S442P	probably damaging	Het
Mcm3ap	G	A	10: 76,338,596 (GRCm39)	S1408N	possibly damaging	Het
Mdga2	T	A	12: 66,763,469 (GRCm39)	Q278L	probably damaging	Het
Mkln1	C	T	6: 31,451,289 (GRCm39)	T410M	probably damaging	Het
Nav3	T	C	10: 109,552,466 (GRCm39)	E1792G	probably damaging	Het
Ndrg1	A	G	15: 66,820,288 (GRCm39)	C49R	probably benign	Het
Neurl4	A	G	11: 69,801,232 (GRCm39)	H1201R	probably benign	Het
Nfasc	T	C	1: 132,510,804 (GRCm39)	Y1073C	unknown	Het
Nrbp2	A	G	15: 75,958,945 (GRCm39)	Y253H	probably benign	Het
Or10c1	T	A	17: 37,521,980 (GRCm39)	I255F	probably benign	Het
Or4g16	T	A	2: 111,137,225 (GRCm39)	V225D	probably damaging	Het
Or4k45	T	C	2: 111,395,556 (GRCm39)	T78A	probably damaging	Het
Pcsk5	A	T	19: 17,416,466 (GRCm39)	C1661S	probably damaging	Het
Siglec15	T	A	18: 78,100,590 (GRCm39)		probably benign	Het
Skint5	T	A	4: 113,454,900 (GRCm39)	T1011S	unknown	Het
Slc9a2	A	G	1: 40,783,001 (GRCm39)	T422A	probably damaging	Het
Tert	C	T	13: 73,776,380 (GRCm39)	T377I	possibly damaging	Het
Tex15	T	A	8: 34,061,129 (GRCm39)	S186R	probably damaging	Het
Tgfb1	A	G	7: 25,396,343 (GRCm39)	D212G	probably benign	Het
Tnc	T	G	4: 63,935,973 (GRCm39)	D321A	probably damaging	Het
Topbp1	G	A	9: 103,187,088 (GRCm39)	E98K	possibly damaging	Het
Ugp2	C	A	11: 21,320,203 (GRCm39)	M1I	probably null	Het
Vipr2	G	A	12: 116,058,418 (GRCm39)	D112N	probably benign	Het
Vps13a	T	C	19: 16,718,265 (GRCm39)	E485G	probably damaging	Het
Vps37a	T	A	8: 40,990,087 (GRCm39)	I198N	possibly damaging	Het
Zbtb9	T	C	17: 27,193,735 (GRCm39)	V380A	probably damaging	Het
Zfhx4	G	C	3: 5,307,802 (GRCm39)	V343L	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
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
R5291:Qsox2	UTSW	2	26,107,710 (GRCm39)	missense	probably damaging	1.00
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'- TCCAGGTCTGCAGTATACAGC -3'
(R):5'- AATGGCCAGTCTGTTCCAAGC -3'

Sequencing Primer
(F):5'- AGTATACAGCTTGGCCCTGAG -3'
(R):5'- CAAGCTATGGCCTGCAGAG -3'

Posted On

2019-06-07