Mutagenetix > Incidental Mutation

Incidental Mutation 'R9007:Sqor'

685347

Institutional Source

Beutler Lab

Gene Symbol

Sqor

Ensembl Gene

ENSMUSG00000005803

Gene Name

sulfide quinone oxidoreductase

Synonyms

0610039J17Rik, Sqrdl, 4930557M22Rik, flavo-binding protein

MMRRC Submission

068837-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122607249-122651473 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 122649876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 373 (Y373*)

Ref Sequence

ENSEMBL: ENSMUSP00000005953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005953] [ENSMUST00000110506] [ENSMUST00000126403] [ENSMUST00000176343]

AlphaFold

Q9R112

Predicted Effect

probably null
Transcript: ENSMUST00000005953
AA Change: Y373*

SMART Domains

Protein: ENSMUSP00000005953
Gene: ENSMUSG00000005803
AA Change: Y373*

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	44	189	1.7e-11	PFAM
SCOP:d1fcda1	240	364	2e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000110506
AA Change: Y373*

SMART Domains

Protein: ENSMUSP00000106133
Gene: ENSMUSG00000005803
AA Change: Y373*

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	45	342	7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126403

SMART Domains

Protein: ENSMUSP00000117575
Gene: ENSMUSG00000005803

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	45	192	8.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176343

SMART Domains

Protein: ENSMUSP00000135786
Gene: ENSMUSG00000005803

Domain	Start	End	E-Value	Type
SCOP:d1fl2a1	25	132	6e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,935 (GRCm39)	C497S	probably benign	Het
4930453N24Rik	A	T	16: 64,589,377 (GRCm39)	Y92*	probably null	Het
Adam3	A	G	8: 25,205,127 (GRCm39)	V117A	probably benign	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Armh4	T	A	14: 50,011,695 (GRCm39)	D4V	probably damaging	Het
Atp6v0a4	T	C	6: 38,029,988 (GRCm39)	K692R	probably benign	Het
Atp8b1	A	G	18: 64,684,931 (GRCm39)	V730A	probably benign	Het
Bdh2	T	C	3: 134,991,309 (GRCm39)		probably benign	Het
Ccnd3	T	A	17: 47,905,332 (GRCm39)		probably null	Het
Chrm4	T	C	2: 91,758,075 (GRCm39)	V161A	possibly damaging	Het
Csmd3	T	C	15: 47,751,892 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,087,930 (GRCm39)	S349P	probably benign	Het
Ddx55	A	G	5: 124,697,370 (GRCm39)	N244S	probably damaging	Het
Dock1	A	G	7: 134,500,825 (GRCm39)		probably benign	Het
Dppa3	T	C	6: 122,605,724 (GRCm39)	S93P	probably damaging	Het
Echdc1	T	C	10: 29,220,426 (GRCm39)	I217T	probably damaging	Het
Fpr-rs4	T	A	17: 18,242,416 (GRCm39)	L141Q	probably damaging	Het
Galnt15	T	C	14: 31,771,935 (GRCm39)	F451L	probably damaging	Het
Galnt9	G	A	5: 110,692,665 (GRCm39)	R33H	probably benign	Het
Iah1	G	A	12: 21,367,402 (GRCm39)	G36D	probably damaging	Het
Jakmip1	A	G	5: 37,332,857 (GRCm39)	D1179G	probably benign	Het
Kcnh1	A	G	1: 192,188,055 (GRCm39)	T866A	probably benign	Het
Kcnq4	T	A	4: 120,555,150 (GRCm39)	I678F	probably benign	Het
Lars2	A	T	9: 123,260,980 (GRCm39)	R384*	probably null	Het
Lman2	T	C	13: 55,500,773 (GRCm39)	D142G	probably damaging	Het
Lrp1b	T	C	2: 40,587,564 (GRCm39)	D3897G		Het
Lrrn1	T	A	6: 107,544,820 (GRCm39)	I206N	probably damaging	Het
Mapkbp1	T	A	2: 119,850,143 (GRCm39)	L802H	probably damaging	Het
Meaf6	T	C	4: 125,001,450 (GRCm39)		probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mis18bp1	G	A	12: 65,180,616 (GRCm39)	S955L	probably benign	Het
Mocs1	T	A	17: 49,756,819 (GRCm39)	M267K	probably damaging	Het
Mroh3	T	A	1: 136,128,110 (GRCm39)	Y263F	probably damaging	Het
Ndufs1	A	T	1: 63,198,878 (GRCm39)		probably benign	Het
Nuak1	T	C	10: 84,210,492 (GRCm39)	Y532C	probably damaging	Het
Or51b6	A	G	7: 103,556,165 (GRCm39)	H170R		Het
Or6c205	A	T	10: 129,086,669 (GRCm39)	T89S	possibly damaging	Het
Ost4	A	G	5: 31,064,866 (GRCm39)	V5A	possibly damaging	Het
P2rx1	T	A	11: 72,900,059 (GRCm39)	C159S	probably damaging	Het
Paqr8	T	C	1: 21,005,614 (GRCm39)	L256P	possibly damaging	Het
Pgls	T	A	8: 72,048,689 (GRCm39)		probably benign	Het
Pkd2l1	T	C	19: 44,140,864 (GRCm39)	E566G	possibly damaging	Het
Plau	A	T	14: 20,889,613 (GRCm39)	H226L	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,872 (GRCm39)	N85S	probably damaging	Het
Rraga	T	C	4: 86,494,675 (GRCm39)	S174P	probably damaging	Het
Sacs	T	A	14: 61,445,185 (GRCm39)	D2410E	probably benign	Het
Sgms1	A	T	19: 32,137,227 (GRCm39)	M113K	probably benign	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Spata31f1e	C	T	4: 42,792,546 (GRCm39)	G529S	probably benign	Het
Stra6l	T	A	4: 45,864,910 (GRCm39)	S79T	possibly damaging	Het
Svep1	T	C	4: 58,091,915 (GRCm39)	I1573M	possibly damaging	Het
Syne2	A	G	12: 76,146,224 (GRCm39)	D1674G	possibly damaging	Het
Tex26	C	A	5: 149,376,884 (GRCm39)	T91N	probably damaging	Het
Tigd2	T	G	6: 59,187,887 (GRCm39)	S251R	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnks1bp1	T	A	2: 84,901,048 (GRCm39)	L1585Q	probably damaging	Het
Trmt10c	A	G	16: 55,855,542 (GRCm39)	V31A	probably benign	Het
Ttc41	T	C	10: 86,569,625 (GRCm39)	S668P	probably damaging	Het
Uggt2	A	T	14: 119,326,724 (GRCm39)	D162E	probably damaging	Het
Vmn1r125	G	C	7: 21,006,503 (GRCm39)	V134L	probably benign	Het
Vmn1r225	T	A	17: 20,723,449 (GRCm39)	F297I	probably damaging	Het
Vps13c	A	G	9: 67,845,006 (GRCm39)	D2030G	probably benign	Het

Other mutations in Sqor

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Sqor	APN	2	122,629,463 (GRCm39)	missense	probably damaging	0.97
IGL01544:Sqor	APN	2	122,634,266 (GRCm39)	splice site	probably benign
IGL02499:Sqor	APN	2	122,650,007 (GRCm39)	missense	possibly damaging	0.93
IGL02583:Sqor	APN	2	122,641,690 (GRCm39)	missense	probably damaging	0.98
IGL02732:Sqor	APN	2	122,641,682 (GRCm39)	missense	possibly damaging	0.76
IGL03137:Sqor	APN	2	122,649,991 (GRCm39)	missense	probably benign
H8786:Sqor	UTSW	2	122,634,288 (GRCm39)	missense	probably benign	0.10
R0126:Sqor	UTSW	2	122,639,947 (GRCm39)	unclassified	probably benign
R0410:Sqor	UTSW	2	122,629,442 (GRCm39)	missense	probably benign
R0502:Sqor	UTSW	2	122,639,970 (GRCm39)	missense	probably benign	0.04
R0709:Sqor	UTSW	2	122,641,775 (GRCm39)	missense	probably benign	0.38
R1486:Sqor	UTSW	2	122,649,565 (GRCm39)	splice site	probably null
R2001:Sqor	UTSW	2	122,640,018 (GRCm39)	missense	probably damaging	0.98
R2020:Sqor	UTSW	2	122,646,027 (GRCm39)	critical splice donor site	probably null
R2039:Sqor	UTSW	2	122,634,324 (GRCm39)	critical splice donor site	probably null
R2404:Sqor	UTSW	2	122,649,943 (GRCm39)	missense	probably benign
R4213:Sqor	UTSW	2	122,629,418 (GRCm39)	missense	probably damaging	1.00
R4909:Sqor	UTSW	2	122,627,101 (GRCm39)	missense	possibly damaging	0.82
R5630:Sqor	UTSW	2	122,651,277 (GRCm39)	missense	possibly damaging	0.71
R5659:Sqor	UTSW	2	122,629,523 (GRCm39)	missense	probably benign	0.02
R5728:Sqor	UTSW	2	122,651,320 (GRCm39)	makesense	probably null
R5772:Sqor	UTSW	2	122,651,261 (GRCm39)	missense	probably benign	0.00
R6527:Sqor	UTSW	2	122,651,206 (GRCm39)	missense	probably damaging	0.98
R6657:Sqor	UTSW	2	122,649,514 (GRCm39)	missense	possibly damaging	0.68
R6843:Sqor	UTSW	2	122,651,215 (GRCm39)	missense	probably damaging	0.99
R6843:Sqor	UTSW	2	122,626,900 (GRCm39)	missense	probably benign	0.00
R7193:Sqor	UTSW	2	122,645,929 (GRCm39)	missense	probably damaging	1.00
R7320:Sqor	UTSW	2	122,641,730 (GRCm39)	missense	probably benign
R7417:Sqor	UTSW	2	122,629,450 (GRCm39)	missense	probably benign	0.35
R7846:Sqor	UTSW	2	122,627,008 (GRCm39)	missense	probably benign	0.37
R8913:Sqor	UTSW	2	122,641,806 (GRCm39)	missense	probably benign
R8939:Sqor	UTSW	2	122,649,549 (GRCm39)	missense	possibly damaging	0.84
R9030:Sqor	UTSW	2	122,629,514 (GRCm39)	missense	probably benign	0.14
R9447:Sqor	UTSW	2	122,649,520 (GRCm39)	missense	possibly damaging	0.83
R9790:Sqor	UTSW	2	122,626,912 (GRCm39)	missense	probably benign	0.00
R9791:Sqor	UTSW	2	122,626,912 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGTTACTGCATCGTTTATCACC -3'
(R):5'- CCACCTGAGCATCATATTCCAG -3'

Sequencing Primer
(F):5'- TTTTCACAGTCCAAAAACCTAGAG -3'
(R):5'- TCCAGTACAGGAATGGCATCATGTC -3'

Posted On

2021-10-11