Mutagenetix > Incidental Mutation

Incidental Mutation 'R6802:Qsox1'

533364

Institutional Source

Beutler Lab

Gene Symbol

Qsox1

Ensembl Gene

ENSMUSG00000033684

Gene Name

quiescin Q6 sulfhydryl oxidase 1

Synonyms

Qscn6, b2b2673Clo, QSOX, 1300003H02Rik

MMRRC Submission

044915-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.675) question?

Stock #

R6802 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155653901-155688645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 155671139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 127 (F127V)

Ref Sequence

ENSEMBL: ENSMUSP00000107394 (fasta)

Gene Model

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

AlphaFold

Q8BND5

Predicted Effect

probably damaging
Transcript: ENSMUST00000035325
AA Change: F127V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035658
Gene: ENSMUSG00000033684
AA Change: F127V

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 damaging
Transcript: ENSMUST00000111764
AA Change: F127V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107394
Gene: ENSMUSG00000033684
AA Change: F127V

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

possibly damaging
Transcript: ENSMUST00000194632
AA Change: F127V

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142301
Gene: ENSMUSG00000033684
AA Change: F127V

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

0.7498

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (54/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	A	T	7: 115,698,725 (GRCm39)	K38N	probably damaging	Het
Agap3	T	A	5: 24,692,791 (GRCm39)	I408N	possibly damaging	Het
Apold1	G	A	6: 134,960,693 (GRCm39)	R49H	probably damaging	Het
Arfgef1	A	T	1: 10,259,677 (GRCm39)	M597K	probably benign	Het
Bsn	C	T	9: 107,987,823 (GRCm39)		probably benign	Het
Ccdc177	A	T	12: 80,806,057 (GRCm39)	D72E	probably damaging	Het
Coa8	G	T	12: 111,717,625 (GRCm39)	G162W	probably benign	Het
Ctdp1	A	T	18: 80,463,656 (GRCm39)		probably null	Het
Ctsj	A	T	13: 61,150,888 (GRCm39)	L190M	probably benign	Het
Dhx57	A	G	17: 80,582,750 (GRCm39)	F285S	probably benign	Het
Dnah2	A	T	11: 69,314,516 (GRCm39)	V4051E	probably damaging	Het
F5	A	T	1: 164,006,925 (GRCm39)	D243V	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fbxo30	G	T	10: 11,167,224 (GRCm39)	G649C	probably damaging	Het
Focad	T	C	4: 88,192,440 (GRCm39)	S590P	unknown	Het
Focad	G	A	4: 88,262,921 (GRCm39)	V973I	unknown	Het
Glb1l3	T	C	9: 26,770,648 (GRCm39)		probably null	Het
Gli2	G	A	1: 118,769,795 (GRCm39)	R586C	probably damaging	Het
Gm6401	T	A	14: 41,788,874 (GRCm39)	E65V	probably damaging	Het
Gml2	T	A	15: 74,696,095 (GRCm39)	L163H	probably damaging	Het
Grm6	A	T	11: 50,744,216 (GRCm39)	Q229L	probably benign	Het
Gtf2h2	T	C	13: 100,617,051 (GRCm39)	M252V	probably benign	Het
Hsf4	G	A	8: 106,001,300 (GRCm39)	G309S	probably damaging	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Irgq	A	G	7: 24,231,076 (GRCm39)	E89G	probably benign	Het
Kcnj6	T	C	16: 94,563,436 (GRCm39)	N354S	probably benign	Het
Lrguk	A	G	6: 34,039,392 (GRCm39)	H301R	probably damaging	Het
Mc4r	C	A	18: 66,992,488 (GRCm39)	M208I	probably benign	Het
Mrpl15	A	G	1: 4,846,953 (GRCm39)	S208P	probably benign	Het
Neil2	A	G	14: 63,429,263 (GRCm39)	F10S	probably damaging	Het
Nrg1	T	C	8: 32,311,292 (GRCm39)	R476G	probably damaging	Het
Or12k7	A	G	2: 36,958,427 (GRCm39)	M37V	probably benign	Het
Or4c100	A	G	2: 88,355,941 (GRCm39)	T5A	probably benign	Het
Or8k22	G	T	2: 86,163,529 (GRCm39)	T57K	possibly damaging	Het
Pacs1	T	C	19: 5,202,812 (GRCm39)	I357V	probably damaging	Het
Pla2g15	T	C	8: 106,877,213 (GRCm39)	L32P	probably damaging	Het
Pms1	A	T	1: 53,245,951 (GRCm39)	S529R	probably benign	Het
Prkra	A	T	2: 76,463,881 (GRCm39)	D260E	probably damaging	Het
Rabgap1l	A	T	1: 160,561,250 (GRCm39)	V161E	probably benign	Het
Robo1	T	G	16: 72,730,201 (GRCm39)	V214G	probably benign	Het
Ryr2	G	A	13: 11,701,852 (GRCm39)	A2935V	probably damaging	Het
Sgtb	A	T	13: 104,268,558 (GRCm39)	Q198L	probably benign	Het
Slc39a12	C	T	2: 14,424,896 (GRCm39)	L376F	probably benign	Het
Socs1	C	A	16: 10,602,222 (GRCm39)	V172L	probably benign	Het
Sprr2k	A	G	3: 92,340,671 (GRCm39)		probably benign	Het
Tgm1	C	T	14: 55,949,939 (GRCm39)		probably benign	Het
Tph2	A	T	10: 115,020,778 (GRCm39)	M6K	probably damaging	Het
Trav16	T	A	14: 53,980,941 (GRCm39)	C43*	probably null	Het
Ttll5	A	G	12: 85,926,160 (GRCm39)	E318G	probably damaging	Het
Vmn2r90	T	A	17: 17,932,351 (GRCm39)	I86N	probably damaging	Het
Zdhhc19	T	C	16: 32,325,176 (GRCm39)	S165P	possibly damaging	Het
Zfp352	A	T	4: 90,113,437 (GRCm39)	T526S	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
R6765:Qsox1	UTSW	1	155,666,851 (GRCm39)	missense	probably benign	0.00
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'- TTTCTGCCAGGCTCTCTGAG -3'
(R):5'- TTACATTCCTGAGCTGCTGC -3'

Sequencing Primer
(F):5'- CCAGGCTCTCTGAGAAGACATATG -3'
(R):5'- AGCTGCTGCCTTCAGGTTCTAAG -3'

Posted On

2018-09-12