Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01067:Qsox2'

50403

Institutional Source

Australian Phenomics Network (link to record)

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: 0.068) question?

Stock #

IGL01067

Quality Score

Status

Chromosome

Chromosomal Location

26099136-26127411 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26118408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 121 (N121S)

Ref Sequence

ENSEMBL: ENSMUSP00000037128 (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: N121S

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

SMART Domains

Protein: ENSMUSP00000037128
Gene: ENSMUSG00000036327
AA Change: N121S

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 benign
Transcript: ENSMUST00000091263

SMART Domains

Protein: ENSMUSP00000088807
Gene: ENSMUSG00000036327

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
A330008L17Rik	T	C	8: 100,148,586 (GRCm39)		noncoding transcript	Het
Acp4	C	T	7: 43,902,876 (GRCm39)	V331I	probably benign	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Alg6	T	C	4: 99,629,807 (GRCm39)	V128A	probably benign	Het
Ank3	A	G	10: 69,686,026 (GRCm39)	K280E	probably damaging	Het
Bfar	T	C	16: 13,503,105 (GRCm39)	C36R	probably damaging	Het
Car14	A	G	3: 95,806,128 (GRCm39)	I311T	probably damaging	Het
Cd300c	T	C	11: 114,851,253 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,383,096 (GRCm39)	E513V	probably damaging	Het
Clip1	C	A	5: 123,768,867 (GRCm39)	K612N	probably damaging	Het
Depdc5	A	G	5: 33,056,411 (GRCm39)		probably null	Het
Dock3	A	T	9: 106,959,572 (GRCm39)		probably null	Het
Dph6	A	T	2: 114,478,290 (GRCm39)	M17K	probably damaging	Het
Enkur	T	C	2: 21,194,042 (GRCm39)	Q177R	probably benign	Het
Faap100	T	C	11: 120,262,958 (GRCm39)	H800R	probably damaging	Het
Fastkd2	T	G	1: 63,776,930 (GRCm39)		probably benign	Het
Fcgr2b	A	T	1: 170,795,622 (GRCm39)	N102K	possibly damaging	Het
Fezf1	C	T	6: 23,247,842 (GRCm39)	V78I	possibly damaging	Het
Fmn2	A	T	1: 174,330,885 (GRCm39)	D425V	unknown	Het
Fnta	G	A	8: 26,497,229 (GRCm39)	Q207*	probably null	Het
Fpr3	T	A	17: 18,190,828 (GRCm39)	V33D	probably benign	Het
Fshr	C	T	17: 89,292,821 (GRCm39)	C619Y	possibly damaging	Het
Gbp3	T	C	3: 142,272,358 (GRCm39)		probably null	Het
Gjb2	A	G	14: 57,337,629 (GRCm39)	V193A	possibly damaging	Het
Il4ra	A	G	7: 125,174,333 (GRCm39)	T292A	probably benign	Het
Lama5	A	G	2: 179,818,336 (GRCm39)		probably benign	Het
Marveld3	G	T	8: 110,688,596 (GRCm39)	D48E	possibly damaging	Het
Meox1	A	T	11: 101,784,599 (GRCm39)	I78N	probably benign	Het
Ncor1	A	T	11: 62,283,354 (GRCm39)	H444Q	probably damaging	Het
Ndst3	T	C	3: 123,340,466 (GRCm39)	Q784R	probably damaging	Het
Or10ag2	A	G	2: 87,248,714 (GRCm39)	I107M	probably benign	Het
Or4k44	T	A	2: 111,368,359 (GRCm39)	I92F	probably damaging	Het
Pld5	A	T	1: 176,102,445 (GRCm39)		probably benign	Het
Plk1	G	A	7: 121,768,148 (GRCm39)	R456H	probably damaging	Het
Polr2a	T	A	11: 69,638,840 (GRCm39)	I65F	possibly damaging	Het
Ptprd	T	A	4: 75,977,922 (GRCm39)	I196F	probably damaging	Het
Reln	A	G	5: 22,184,664 (GRCm39)	L1617S	probably damaging	Het
Rragc	T	C	4: 123,823,761 (GRCm39)	F345L	probably benign	Het
Sass6	A	T	3: 116,407,605 (GRCm39)	E240D	possibly damaging	Het
Shcbp1l	A	C	1: 153,311,770 (GRCm39)	S308R	possibly damaging	Het
Slc1a5	T	A	7: 16,520,804 (GRCm39)	C224*	probably null	Het
Slc27a5	T	C	7: 12,722,999 (GRCm39)	E567G	probably damaging	Het
Synj2	T	A	17: 6,088,201 (GRCm39)	N1417K	possibly damaging	Het
Tbc1d9	A	G	8: 83,960,791 (GRCm39)	T214A	probably damaging	Het
Tjp3	C	A	10: 81,109,699 (GRCm39)	V835L	probably benign	Het
Trpc4	C	A	3: 54,129,983 (GRCm39)	Q250K	probably benign	Het
Ttn	A	T	2: 76,575,506 (GRCm39)	I25129N	probably damaging	Het
Ube4a	T	A	9: 44,856,163 (GRCm39)	Y523F	probably damaging	Het
Zfp971	G	A	2: 177,665,175 (GRCm39)		probably null	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
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
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

Posted On

2013-06-21