Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Qsox1'

735295

Institutional Source

Beutler Lab

Gene Symbol

Qsox1

Ensembl Gene

ENSMUSG00000033684

Gene Name

quiescin Q6 sulfhydryl oxidase 1

Synonyms

Qscn6, QSOX, 1300003H02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.540) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155776029-155812889 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155782670 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 384 (D384E)

Ref Sequence

ENSEMBL: ENSMUSP00000035658 (fasta)

Gene Model

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

AlphaFold

Q8BND5

PDB Structure

C76A/C455S mutant of mouse QSOX1 containing an interdomain disulfide [X-RAY DIFFRACTION]
C76A/C455S mutant of mouse QSOX1 containing an interdomain disulfide [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000035325
AA Change: D384E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035658
Gene: ENSMUSG00000033684
AA Change: D384E

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: D384E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000107394
Gene: ENSMUSG00000033684
AA Change: D384E

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: D384E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142301
Gene: ENSMUSG00000033684
AA Change: D384E

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,703,903	S52P	unknown	Het
Ank2	A	G	3: 126,959,077	M330T	possibly damaging	Het
Ankar	C	T	1: 72,659,181	V905I	possibly damaging	Het
Anln	G	T	9: 22,372,222	D438E	probably damaging	Het
C1ql3	T	C	2: 13,004,389	N215S	probably damaging	Het
Ccdc110	A	G	8: 45,942,589	S506G	probably benign	Het
Ccdc87	A	G	19: 4,841,147	T556A	probably benign	Het
Cma1	A	T	14: 55,941,729	N236K	probably benign	Het
Csmd2	T	C	4: 128,369,193	F724S		Het
Cts8	T	C	13: 61,253,322	K130R	possibly damaging	Het
Daam1	A	T	12: 71,944,148	T179S	unknown	Het
Fancd2os	T	C	6: 113,597,977	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,504,854	I168N	probably damaging	Het
Gckr	G	A	5: 31,300,024	G127D	probably damaging	Het
Gm11444	G	A	11: 85,846,873	Q164*	probably null	Het
Gm28042	T	A	2: 120,038,503	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,192,971	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,668,903	H198Q	possibly damaging	Het
Hps6	T	A	19: 46,005,508	L628*	probably null	Het
Igha	G	A	12: 113,259,139	H221Y		Het
Ighm	A	G	12: 113,419,015	S453P		Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Lfng	A	G	5: 140,607,773	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,200	A172T	probably benign	Het
Lrrc56	A	G	7: 141,207,607	T386A	probably benign	Het
Mapkbp1	A	T	2: 120,010,775	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mrto4	T	A	4: 139,349,070	N70I	probably damaging	Het
Mxra8	C	T	4: 155,839,825		probably benign	Het
Myo1h	A	G	5: 114,345,936	E548G		Het
Ncan	C	T	8: 70,108,101	D739N	probably benign	Het
Olfr315	T	C	11: 58,778,769	V214A	probably benign	Het
Oxgr1	T	C	14: 120,022,151	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,035	V86E	probably damaging	Het
Pclo	G	A	5: 14,712,615	V416M		Het
Phf3	G	T	1: 30,830,791	T392K	probably benign	Het
Pkhd1	A	T	1: 20,566,849	V379E	probably damaging	Het
Ppfia3	T	C	7: 45,341,115	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,422,217	G1254C	probably damaging	Het
Rergl	A	G	6: 139,500,763	F23L	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Sidt2	A	G	9: 45,943,614	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,141,132	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,272,075	D474V	probably damaging	Het
Tenm4	G	A	7: 96,553,478	G100D	probably damaging	Het
Tmem258	G	A	19: 10,207,273	V75I	probably benign	Het
Tmem91	G	T	7: 25,670,563	H95N	probably damaging	Het
Trps1	T	C	15: 50,846,694	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,943,717	M209K	probably benign	Het
Tspan17	C	A	13: 54,793,279	Q124K	probably benign	Het
Uts2b	G	A	16: 27,360,942	R105*	probably null	Het
Vmn2r110	T	A	17: 20,583,468	T282S	probably benign	Het
Xdh	T	A	17: 73,922,460	M333L	probably benign	Het
Zbtb3	A	G	19: 8,804,469	E482G	probably damaging	Het

Other mutations in Qsox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02392:Qsox1	APN	1	155812600	missense	probably damaging	1.00
BB003:Qsox1	UTSW	1	155812787	missense	unknown
BB013:Qsox1	UTSW	1	155812787	missense	unknown
R1799:Qsox1	UTSW	1	155794618	missense	probably null
R1833:Qsox1	UTSW	1	155791045	missense	probably benign	0.15
R1874:Qsox1	UTSW	1	155812639	missense	possibly damaging	0.85
R4282:Qsox1	UTSW	1	155786925	critical splice acceptor site	probably null
R4938:Qsox1	UTSW	1	155779668	missense	probably benign	0.01
R5081:Qsox1	UTSW	1	155812835	utr 5 prime	probably benign
R5217:Qsox1	UTSW	1	155790996	missense	probably benign	0.00
R5303:Qsox1	UTSW	1	155779293	missense	probably benign	0.01
R5761:Qsox1	UTSW	1	155779528	missense	probably benign
R5763:Qsox1	UTSW	1	155779879	missense	probably benign
R5932:Qsox1	UTSW	1	155789333	missense	probably benign
R6765:Qsox1	UTSW	1	155791105	missense	probably benign	0.00
R6802:Qsox1	UTSW	1	155795393	missense	probably damaging	1.00
R7926:Qsox1	UTSW	1	155812787	missense	unknown
R8857:Qsox1	UTSW	1	155782587	missense	possibly damaging	0.50
R8986:Qsox1	UTSW	1	155791083	missense	probably damaging	1.00
R9359:Qsox1	UTSW	1	155782597	missense	probably damaging	1.00
R9366:Qsox1	UTSW	1	155789416	missense	probably benign	0.01
R9403:Qsox1	UTSW	1	155782597	missense	probably damaging	1.00
R9621:Qsox1	UTSW	1	155795389	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCTCCCACTAATACAGGATC -3'
(R):5'- TTATAAGGAGTCAAGGTTCCAGGG -3'

Sequencing Primer
(F):5'- CACTAATACAGGATCAGTCTAGCTG -3'
(R):5'- CAAGGTTCCAGGGACCTCGATAG -3'

Posted On

2022-11-14