Mutagenetix > Incidental Mutation

Incidental Mutation 'R9366:Qsox1'

708944

Institutional Source

Beutler Lab

Gene Symbol

Qsox1

Ensembl Gene

ENSMUSG00000033684

Gene Name

quiescin Q6 sulfhydryl oxidase 1

Synonyms

Qscn6, b2b2673Clo, QSOX, 1300003H02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.675) question?

Stock #

R9366 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155653901-155688645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155665162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 260 (S260P)

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: S260P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000035658
Gene: ENSMUSG00000033684
AA Change: S260P

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: S260P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107394
Gene: ENSMUSG00000033684
AA Change: S260P

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: S260P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000142301
Gene: ENSMUSG00000033684
AA Change: S260P

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

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	C	T	8: 71,914,328 (GRCm39)	R100Q	probably benign	Het
Acp5	C	T	9: 22,039,224 (GRCm39)	C163Y	probably damaging	Het
Ankrd17	C	T	5: 90,416,508 (GRCm39)	R1108Q	probably damaging	Het
Atp2b4	C	A	1: 133,642,920 (GRCm39)	G1062C	probably damaging	Het
Bicral	A	T	17: 47,117,558 (GRCm39)	M788K	possibly damaging	Het
C1s2	C	A	6: 124,602,694 (GRCm39)	A506S	probably benign	Het
Capn9	C	G	8: 125,332,280 (GRCm39)	T417S	probably benign	Het
Cd109	T	G	9: 78,622,275 (GRCm39)	S1422A	probably benign	Het
Cd207	G	T	6: 83,648,779 (GRCm39)	N294K	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,675 (GRCm39)	E605G	probably damaging	Het
Cdhr1	C	A	14: 36,811,463 (GRCm39)	G216V	possibly damaging	Het
Ckap2	A	T	8: 22,658,988 (GRCm39)	M585K	possibly damaging	Het
Clp1	G	T	2: 84,556,473 (GRCm39)	S2R	probably benign	Het
Cngb3	G	T	4: 19,395,983 (GRCm39)	V342F	probably benign	Het
Col18a1	T	C	10: 76,932,258 (GRCm39)	D65G	unknown	Het
Col3a1	C	T	1: 45,380,391 (GRCm39)	P972S	unknown	Het
Cxcr5	C	T	9: 44,424,730 (GRCm39)	C309Y	possibly damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Dcc	A	T	18: 71,708,281 (GRCm39)	N478K	probably damaging	Het
Emb	G	T	13: 117,357,096 (GRCm39)		probably benign	Het
Emsy	A	T	7: 98,290,860 (GRCm39)	N101K	probably benign	Het
Epb41l5	A	G	1: 119,548,448 (GRCm39)	Y137H	probably damaging	Het
Etfdh	C	T	3: 79,519,271 (GRCm39)	G354D	probably benign	Het
Fa2h	A	T	8: 112,076,006 (GRCm39)	Y206N	probably benign	Het
Gabrr2	T	C	4: 33,085,771 (GRCm39)	V217A		Het
Gimap4	A	G	6: 48,668,037 (GRCm39)	K264R	probably benign	Het
Gpr31b	C	A	17: 13,270,375 (GRCm39)	D265Y	probably damaging	Het
Irx4	A	G	13: 73,417,025 (GRCm39)	T474A	probably benign	Het
Kif21a	T	C	15: 90,843,951 (GRCm39)	E1096G	probably damaging	Het
Letm2	A	T	8: 26,084,165 (GRCm39)	V22E	probably damaging	Het
Lrrc45	A	G	11: 120,611,552 (GRCm39)	E642G	probably damaging	Het
Mark1	A	T	1: 184,653,792 (GRCm39)	V170E	probably damaging	Het
Mbd6	G	A	10: 127,122,304 (GRCm39)	Q175*	probably null	Het
Mrc1	T	A	2: 14,321,709 (GRCm39)	D1067E	probably damaging	Het
Muc5b	A	G	7: 141,417,041 (GRCm39)	H3329R	probably benign	Het
Myh1	A	T	11: 67,110,114 (GRCm39)	D1434V	probably damaging	Het
Myo5a	T	A	9: 75,124,800 (GRCm39)	L1785Q	probably damaging	Het
Myrfl	A	G	10: 116,670,358 (GRCm39)	I295T	possibly damaging	Het
Nav3	C	A	10: 109,659,364 (GRCm39)	R751L	probably damaging	Het
Neb	T	C	2: 52,172,699 (GRCm39)	K1536R	probably benign	Het
Nynrin	T	G	14: 56,100,587 (GRCm39)	S126A	probably damaging	Het
Or13p3	A	T	4: 118,566,831 (GRCm39)	T76S	probably damaging	Het
Or5m8	A	G	2: 85,822,731 (GRCm39)	D190G	possibly damaging	Het
Or6c69c	A	T	10: 129,911,067 (GRCm39)	K263*	probably null	Het
Parp14	A	C	16: 35,659,630 (GRCm39)		probably null	Het
Phldb1	G	T	9: 44,622,546 (GRCm39)	L36M	possibly damaging	Het
Pin1	C	A	9: 20,566,841 (GRCm39)	T81N	probably damaging	Het
Pkhd1l1	T	C	15: 44,410,308 (GRCm39)	I2605T	probably benign	Het
Plcb3	A	G	19: 6,937,658 (GRCm39)		probably null	Het
Proser3	G	A	7: 30,248,478 (GRCm39)	S72L	probably damaging	Het
Pum2	T	A	12: 8,783,344 (GRCm39)	S598T	probably benign	Het
Pwp1	T	A	10: 85,717,870 (GRCm39)	N269K	probably damaging	Het
Ric3	A	G	7: 108,653,644 (GRCm39)	L149P	probably damaging	Het
Rif1	A	G	2: 52,010,356 (GRCm39)	T707A		Het
Rnf213	A	C	11: 119,327,057 (GRCm39)	R1682S		Het
Rpgrip1l	G	T	8: 91,996,809 (GRCm39)	Y690*	probably null	Het
Slc29a2	A	G	19: 5,074,609 (GRCm39)	T34A	probably damaging	Het
Slc6a1	A	G	6: 114,280,974 (GRCm39)	N176S	possibly damaging	Het
Slco1b2	T	A	6: 141,602,552 (GRCm39)	Y168*	probably null	Het
Snca	C	A	6: 60,792,675 (GRCm39)	A78S	probably benign	Het
Snrnp200	T	A	2: 127,058,010 (GRCm39)	D257E	probably benign	Het
Srebf2	T	C	15: 82,083,837 (GRCm39)	V959A	probably benign	Het
Stk3	A	C	15: 35,072,634 (GRCm39)	I209S	probably damaging	Het
Thsd7a	A	T	6: 12,555,480 (GRCm39)	C135S		Het
Tlnrd1	G	T	7: 83,531,582 (GRCm39)	A283E	probably benign	Het
Tomm70a	A	T	16: 56,970,259 (GRCm39)	K546*	probably null	Het
Trak1	C	T	9: 121,301,578 (GRCm39)	T778I	probably damaging	Het
Trappc9	T	C	15: 72,808,937 (GRCm39)	I709V	probably benign	Het
Trgc3	A	G	13: 19,446,825 (GRCm39)	T115A	probably benign	Het
Trp53rkb	T	C	2: 166,637,700 (GRCm39)	S219P	possibly damaging	Het
Ubqlnl	G	C	7: 103,798,592 (GRCm39)	L302V	possibly damaging	Het
Uqcc1	C	A	2: 155,771,995 (GRCm39)		probably benign	Het
Vps13a	G	A	19: 16,672,894 (GRCm39)	R1293W	probably damaging	Het
Vps9d1	G	T	8: 123,974,486 (GRCm39)	S267*	probably null	Het
Vwa5b1	A	T	4: 138,318,229 (GRCm39)	I546N	probably damaging	Het
Zbtb8b	A	T	4: 129,326,151 (GRCm39)	M338K	probably benign	Het
Zfp652	C	T	11: 95,643,833 (GRCm39)	R344*	probably null	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
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
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'- ACAGAGATAGGCTATCCTGTGAC -3'
(R):5'- ACCATGGACAGTGAATGGAC -3'

Sequencing Primer
(F):5'- GAACAGAGATGAGTAAGGCAGTATTC -3'
(R):5'- CCCTGCTGACATTGGTTA -3'

Posted On

2022-04-18