Mutagenetix > Incidental Mutation

Incidental Mutation 'R7637:Qsox2'

589996

Institutional Source

Beutler Lab

Gene Symbol

Qsox2

Ensembl Gene

ENSMUSG00000036327

Gene Name

quiescin Q6 sulfhydryl oxidase 2

Synonyms

Qscn6l1, QSOX2

MMRRC Submission

045695-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7637 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26099136-26127411 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26111032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 111 (F111S)

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: F276S

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

SMART Domains

Protein: ENSMUSP00000037128
Gene: ENSMUSG00000036327
AA Change: F276S

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: F111S

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

SMART Domains

Protein: ENSMUSP00000088807
Gene: ENSMUSG00000036327
AA Change: F111S

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

Meta Mutation Damage Score

0.5732

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

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
Abca6	T	A	11: 110,109,778 (GRCm39)	Q651L	probably benign	Het
Adam8	C	T	7: 139,565,343 (GRCm39)	V624I	probably damaging	Het
Cltc	T	C	11: 86,621,158 (GRCm39)	H287R	probably damaging	Het
Cmya5	T	C	13: 93,219,720 (GRCm39)	K3243R	possibly damaging	Het
Dock5	G	A	14: 68,023,789 (GRCm39)	T1124M	possibly damaging	Het
Fam8a1	A	T	13: 46,824,723 (GRCm39)	M237L	probably benign	Het
Fars2	G	T	13: 36,388,758 (GRCm39)	K82N	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gm57858	T	A	3: 36,101,025 (GRCm39)	Q49L	probably damaging	Het
Gnat3	A	G	5: 18,208,770 (GRCm39)	D158G		Het
Grhl2	A	C	15: 37,328,574 (GRCm39)	N400T	probably damaging	Het
Grin2c	A	T	11: 115,147,085 (GRCm39)		probably null	Het
Hipk4	A	G	7: 27,222,973 (GRCm39)	Y11C	probably damaging	Het
Hspa9	G	T	18: 35,071,740 (GRCm39)	A620E	not run	Het
Igkv12-89	A	G	6: 68,812,083 (GRCm39)	S29P	probably benign	Het
Itga8	A	T	2: 12,113,998 (GRCm39)	D1039E	probably damaging	Het
Itgae	A	T	11: 73,004,457 (GRCm39)	D248V	probably damaging	Het
Kmt2c	T	C	5: 25,520,093 (GRCm39)	K2006E	probably damaging	Het
Litafd	C	T	16: 8,501,510 (GRCm39)	P59L	unknown	Het
Mdga1	C	T	17: 30,051,353 (GRCm39)	G934R	probably benign	Het
Mov10	T	C	3: 104,703,201 (GRCm39)	N896S	probably benign	Het
Ndufb6	A	T	4: 40,273,080 (GRCm39)		probably null	Het
Nlk	T	C	11: 78,481,831 (GRCm39)		probably null	Het
Notch2	T	A	3: 98,053,939 (GRCm39)	S2201T	probably damaging	Het
Or5i1	A	T	2: 87,613,778 (GRCm39)	D298V	probably damaging	Het
Pank1	A	C	19: 34,799,388 (GRCm39)		probably null	Het
Pdlim3	T	C	8: 46,362,102 (GRCm39)	F126S	probably damaging	Het
Pds5a	C	A	5: 65,795,947 (GRCm39)	G648C	probably benign	Het
Plekhh3	T	C	11: 101,055,153 (GRCm39)	I567V	unknown	Het
Ppfia2	T	C	10: 106,701,264 (GRCm39)		probably null	Het
Prl3d1	A	G	13: 27,284,052 (GRCm39)	D207G	probably damaging	Het
Prss23	T	A	7: 89,159,454 (GRCm39)	D205V	probably benign	Het
Pygl	C	T	12: 70,244,569 (GRCm39)		probably null	Het
Sart3	T	C	5: 113,909,413 (GRCm39)	N95S	probably benign	Het
Scpep1	A	G	11: 88,820,046 (GRCm39)	F414S	probably damaging	Het
Selenbp1	C	A	3: 94,844,659 (GRCm39)	Y105*	probably null	Het
Sirpa	A	G	2: 129,458,365 (GRCm39)	D327G	probably benign	Het
Sowahc	G	A	10: 59,058,005 (GRCm39)	R47H	probably damaging	Het
Szt2	T	C	4: 118,251,025 (GRCm39)	Y361C	probably damaging	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tie1	T	C	4: 118,330,175 (GRCm39)	I1042M	probably damaging	Het
Tmem132e	T	A	11: 82,325,342 (GRCm39)	L114Q	probably damaging	Het
Tmx3	A	G	18: 90,555,233 (GRCm39)	T317A	probably damaging	Het
Tppp3	A	G	8: 106,194,924 (GRCm39)	V69A	probably benign	Het
Tpr	T	C	1: 150,299,267 (GRCm39)	Y1156H	probably damaging	Het
Trank1	A	C	9: 111,194,364 (GRCm39)	D796A	possibly damaging	Het
Tsc2	G	A	17: 24,826,466 (GRCm39)	P928S	probably benign	Het
Unc80	G	T	1: 66,711,843 (GRCm39)	V2722F	possibly damaging	Het
Vmn1r199	G	T	13: 22,566,845 (GRCm39)	L46F	probably benign	Het
Vps13a	A	T	19: 16,727,513 (GRCm39)	H196Q	probably benign	Het
Wnt10a	T	A	1: 74,832,633 (GRCm39)	C75*	probably null	Het
Zfp335	A	G	2: 164,734,459 (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
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
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
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'- TCCTGCCTTCCTGTACAAAG -3'
(R):5'- AGATGGGACTCAGCTGACAC -3'

Sequencing Primer
(F):5'- CCTGTACAAAGGCCCTCTTG -3'
(R):5'- TGACACGGGTGCCCTTCATC -3'

Posted On

2019-10-24