Mutagenetix > Incidental Mutation

Incidental Mutation 'R6765:Qsox1'

531841

Institutional Source

Beutler Lab

Gene Symbol

Qsox1

Ensembl Gene

ENSMUSG00000033684

Gene Name

quiescin Q6 sulfhydryl oxidase 1

Synonyms

Qscn6, b2b2673Clo, QSOX, 1300003H02Rik

MMRRC Submission

044881-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.675) question?

Stock #

R6765 (G1)

Quality Score

174.009

Status

Validated

Chromosome

Chromosomal Location

155653901-155688645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155666851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 213 (Y213H)

Ref Sequence

ENSEMBL: ENSMUSP00000142301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035325] [ENSMUST00000111764] [ENSMUST00000194632]

AlphaFold

Q8BND5

Predicted Effect

probably benign
Transcript: ENSMUST00000035325
AA Change: Y213H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035658
Gene: ENSMUSG00000033684
AA Change: Y213H

Domain	Start	End	E-Value	Type
low complexity region	5	29	N/A	INTRINSIC
Pfam:Thioredoxin	46	149	9e-18	PFAM
low complexity region	276	286	N/A	INTRINSIC
Pfam:Evr1_Alr	408	507	7e-29	PFAM
low complexity region	679	692	N/A	INTRINSIC
low complexity region	693	705	N/A	INTRINSIC
transmembrane domain	709	731	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111764
AA Change: Y213H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107394
Gene: ENSMUSG00000033684
AA Change: Y213H

Domain	Start	End	E-Value	Type
low complexity region	5	29	N/A	INTRINSIC
Pfam:Thioredoxin	45	149	1.7e-18	PFAM
low complexity region	276	286	N/A	INTRINSIC
Pfam:Evr1_Alr	408	508	1.5e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194632
AA Change: Y213H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000142301
Gene: ENSMUSG00000033684
AA Change: Y213H

Domain	Start	End	E-Value	Type
low complexity region	5	29	N/A	INTRINSIC
Pfam:Thioredoxin	45	149	1.3e-18	PFAM
low complexity region	276	286	N/A	INTRINSIC
Pfam:Evr1_Alr	408	508	1.2e-28	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (58/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for an ENU-induced mutation show cardiovascular phenotypes including persistent truncus arteriosus, atriventricular septal defects and vascular ring, as well as eye defects, short snout, micrognathia, cleft palate, tracheosophageal fistula, polydactyly and spleen hypoplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	C	A	7: 82,216,232 (GRCm39)	D878E	possibly damaging	Het
Adipor2	A	C	6: 119,334,203 (GRCm39)	F336V	possibly damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Aoc1	A	G	6: 48,882,871 (GRCm39)	N249S	probably benign	Het
Ap1b1	T	A	11: 4,969,427 (GRCm39)	L261Q	probably damaging	Het
Ap3b1	T	A	13: 94,599,017 (GRCm39)	D530E	probably benign	Het
Arid4b	T	A	13: 14,361,900 (GRCm39)	M788K	possibly damaging	Het
Atp2c2	A	T	8: 120,479,756 (GRCm39)	I762F	probably damaging	Het
Bhlhe23	C	A	2: 180,418,136 (GRCm39)	R134L	probably damaging	Het
Cacna2d3	T	C	14: 28,777,934 (GRCm39)	D687G	probably damaging	Het
Ccdc136	G	A	6: 29,405,940 (GRCm39)	M95I	probably benign	Het
Cdk12	T	A	11: 98,115,355 (GRCm39)	I832N	unknown	Het
Clcn2	A	C	16: 20,526,418 (GRCm39)		probably null	Het
Csrnp2	C	T	15: 100,380,574 (GRCm39)	R239Q	probably damaging	Het
Dhrs13	T	A	11: 77,927,965 (GRCm39)	D270E	probably benign	Het
Dlgap2	G	A	8: 14,793,284 (GRCm39)	G426D	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fam120a	A	G	13: 49,045,440 (GRCm39)	Y799H	probably damaging	Het
Farp1	G	A	14: 121,460,066 (GRCm39)	V112I	probably benign	Het
Fhip2a	A	G	19: 57,367,177 (GRCm39)	D240G	probably benign	Het
Fsip2	A	G	2: 82,816,776 (GRCm39)	I4170V	probably benign	Het
Gm12185	A	G	11: 48,806,531 (GRCm39)	V220A	probably benign	Het
Gpr37l1	T	C	1: 135,094,860 (GRCm39)	Y128C	probably damaging	Het
Gsto2	A	T	19: 47,860,227 (GRCm39)	R7*	probably null	Het
Itih3	C	T	14: 30,631,430 (GRCm39)	G822D	probably benign	Het
Kcnu1	A	T	8: 26,403,673 (GRCm39)	D728V	probably damaging	Het
Khdc4	G	T	3: 88,593,736 (GRCm39)	G42W	probably damaging	Het
Lnpep	G	A	17: 17,750,758 (GRCm39)	T976I	probably damaging	Het
Map1b	A	C	13: 99,562,449 (GRCm39)	H2420Q	unknown	Het
Mc1r	A	G	8: 124,134,435 (GRCm39)	K63E	probably damaging	Het
Mpped1	G	A	15: 83,720,584 (GRCm39)	V15M	probably damaging	Het
Ncor1	T	C	11: 62,264,272 (GRCm39)	T103A	probably benign	Het
Nhsl1	A	T	10: 18,407,062 (GRCm39)	T1399S	probably benign	Het
Nlrc5	C	T	8: 95,216,996 (GRCm39)	T995M	probably benign	Het
Nrbp1	G	A	5: 31,403,190 (GRCm39)		probably null	Het
Or10g9	A	C	9: 39,912,493 (GRCm39)	F10C	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or8k27	T	C	2: 86,275,580 (GRCm39)	T249A	probably benign	Het
Pcdhb13	T	C	18: 37,576,663 (GRCm39)	L347P	probably damaging	Het
Pkhd1	T	C	1: 20,128,563 (GRCm39)	T4047A	probably benign	Het
Prrt2	T	A	7: 126,618,769 (GRCm39)	D232V	probably damaging	Het
Psmd5	A	C	2: 34,746,545 (GRCm39)	M344R	probably benign	Het
Pwp1	G	A	10: 85,720,397 (GRCm39)	E345K	probably damaging	Het
Rmc1	A	G	18: 12,309,203 (GRCm39)	N92D	possibly damaging	Het
Sclt1	T	C	3: 41,685,337 (GRCm39)	R39G	unknown	Het
Syne1	A	T	10: 5,093,285 (GRCm39)		probably null	Het
Tmem163	G	T	1: 127,479,078 (GRCm39)	A147E	probably damaging	Het
Trav13n-4	A	T	14: 53,601,557 (GRCm39)	M109L	probably benign	Het
Trp53bp1	T	C	2: 121,039,790 (GRCm39)	E1283G	probably damaging	Het
Trpm6	T	A	19: 18,855,129 (GRCm39)	D1929E	probably damaging	Het
Upb1	A	T	10: 75,273,978 (GRCm39)	D335V	probably damaging	Het
Vps26b	T	C	9: 26,924,104 (GRCm39)	E213G	probably damaging	Het
Vwc2	C	T	11: 11,104,215 (GRCm39)	T249I	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zan	A	G	5: 137,391,409 (GRCm39)	C4692R	unknown	Het
Zfp106	T	C	2: 120,369,935 (GRCm39)	E29G	probably damaging	Het
Zfp551	G	A	7: 12,150,767 (GRCm39)	A214V	possibly damaging	Het
Zfp981	T	A	4: 146,622,363 (GRCm39)	H429Q	probably benign	Het

Other mutations in Qsox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02392:Qsox1	APN	1	155,688,346 (GRCm39)	missense	probably damaging	1.00
BB003:Qsox1	UTSW	1	155,688,533 (GRCm39)	missense	unknown
BB013:Qsox1	UTSW	1	155,688,533 (GRCm39)	missense	unknown
R1799:Qsox1	UTSW	1	155,670,364 (GRCm39)	missense	probably null
R1833:Qsox1	UTSW	1	155,666,791 (GRCm39)	missense	probably benign	0.15
R1874:Qsox1	UTSW	1	155,688,385 (GRCm39)	missense	possibly damaging	0.85
R4282:Qsox1	UTSW	1	155,662,671 (GRCm39)	critical splice acceptor site	probably null
R4938:Qsox1	UTSW	1	155,655,414 (GRCm39)	missense	probably benign	0.01
R5081:Qsox1	UTSW	1	155,688,581 (GRCm39)	utr 5 prime	probably benign
R5217:Qsox1	UTSW	1	155,666,742 (GRCm39)	missense	probably benign	0.00
R5303:Qsox1	UTSW	1	155,655,039 (GRCm39)	missense	probably benign	0.01
R5761:Qsox1	UTSW	1	155,655,274 (GRCm39)	missense	probably benign
R5763:Qsox1	UTSW	1	155,655,625 (GRCm39)	missense	probably benign
R5932:Qsox1	UTSW	1	155,665,079 (GRCm39)	missense	probably benign
R6802:Qsox1	UTSW	1	155,671,139 (GRCm39)	missense	probably damaging	1.00
R7926:Qsox1	UTSW	1	155,688,533 (GRCm39)	missense	unknown
R8857:Qsox1	UTSW	1	155,658,333 (GRCm39)	missense	possibly damaging	0.50
R8986:Qsox1	UTSW	1	155,666,829 (GRCm39)	missense	probably damaging	1.00
R9359:Qsox1	UTSW	1	155,658,343 (GRCm39)	missense	probably damaging	1.00
R9366:Qsox1	UTSW	1	155,665,162 (GRCm39)	missense	probably benign	0.01
R9403:Qsox1	UTSW	1	155,658,343 (GRCm39)	missense	probably damaging	1.00
R9621:Qsox1	UTSW	1	155,671,135 (GRCm39)	frame shift	probably null
R9803:Qsox1	UTSW	1	155,658,416 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGTGACCTCTCTGGCAGGAAG -3'
(R):5'- GTGGTCTGAACAGTTTCAAGGC -3'

Sequencing Primer
(F):5'- CTCTCTGGCAGGAAGAGTGACTG -3'
(R):5'- ACCTGAGGGTTGTGTCAAC -3'

Posted On

2018-08-29