Mutagenetix > Incidental Mutation

Incidental Mutation 'R7417:Sqor'

575359

Institutional Source

Beutler Lab

Gene Symbol

Sqor

Ensembl Gene

ENSMUSG00000005803

Gene Name

sulfide quinone oxidoreductase

Synonyms

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

MMRRC Submission

045495-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7417 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122607249-122651473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122629450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 103 (T103S)

Ref Sequence

ENSEMBL: ENSMUSP00000005953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005953] [ENSMUST00000110506] [ENSMUST00000124460] [ENSMUST00000126403] [ENSMUST00000147475]

AlphaFold

Q9R112

Predicted Effect

probably benign
Transcript: ENSMUST00000005953
AA Change: T103S

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000005953
Gene: ENSMUSG00000005803
AA Change: T103S

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 benign
Transcript: ENSMUST00000110506
AA Change: T103S

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106133
Gene: ENSMUSG00000005803
AA Change: T103S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124460

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126403
AA Change: T103S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117575
Gene: ENSMUSG00000005803
AA Change: T103S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147475

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	G	A	17: 48,460,057 (GRCm39)	T213I	probably damaging	Het
Akr1b7	G	A	6: 34,394,300 (GRCm39)		probably null	Het
Aldh6a1	T	C	12: 84,488,556 (GRCm39)	Q110R	probably benign	Het
Alg11	A	T	8: 22,552,044 (GRCm39)	T63S	probably benign	Het
Ankrd13b	A	G	11: 77,367,020 (GRCm39)	Y271H	probably damaging	Het
Ano8	T	A	8: 71,933,477 (GRCm39)	D605V	unknown	Het
Best2	C	T	8: 85,736,295 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,807 (GRCm39)	S776P	probably damaging	Het
Capn7	T	C	14: 31,092,663 (GRCm39)	Y737H	probably damaging	Het
Cblc	A	T	7: 19,522,899 (GRCm39)	S333T	probably benign	Het
Ccm2	T	A	11: 6,543,091 (GRCm39)	M257K	probably benign	Het
Cd320	T	A	17: 34,066,530 (GRCm39)	C103*	probably null	Het
Cd53	A	G	3: 106,676,235 (GRCm39)	F44S	probably benign	Het
Col9a2	G	A	4: 120,911,489 (GRCm39)	R610H	not run	Het
Cubn	T	C	2: 13,431,778 (GRCm39)	I1272V	probably benign	Het
Cyp2j7	C	T	4: 96,090,225 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,655,962 (GRCm39)	R520S	probably benign	Het
Dnai3	A	T	3: 145,798,835 (GRCm39)		probably null	Het
Drg2	A	G	11: 60,345,506 (GRCm39)	M1V	probably null	Het
Ect2	A	G	3: 27,152,568 (GRCm39)	S908P	probably damaging	Het
Eipr1	A	G	12: 28,916,954 (GRCm39)	T341A	probably benign	Het
Ell3	A	C	2: 121,270,891 (GRCm39)	I214R	probably benign	Het
Emsy	A	T	7: 98,264,693 (GRCm39)	L568Q	probably damaging	Het
Foxd4	T	C	19: 24,877,826 (GRCm39)	T125A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Gcsam	C	A	16: 45,440,240 (GRCm39)	H94Q	probably damaging	Het
Ginm1	T	A	10: 7,649,844 (GRCm39)	I150F	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hk2	G	A	6: 82,720,326 (GRCm39)	A205V	probably damaging	Het
Il3ra	A	T	14: 14,349,345 (GRCm38)	H147L	probably benign	Het
Map3k6	T	A	4: 132,975,707 (GRCm39)	S732T	probably benign	Het
Masp2	A	G	4: 148,690,178 (GRCm39)	E229G	probably benign	Het
Mccc2	A	G	13: 100,108,285 (GRCm39)		probably null	Het
Mia3	A	G	1: 183,108,508 (GRCm39)	V359A		Het
Mob1a	A	T	6: 83,309,492 (GRCm39)	T80S	probably benign	Het
Msantd2	G	A	9: 37,434,590 (GRCm39)	G478S	probably damaging	Het
Mtf1	A	G	4: 124,718,974 (GRCm39)	E329G	probably null	Het
Myh9	T	A	15: 77,648,065 (GRCm39)	K1804*	probably null	Het
Ndst3	A	G	3: 123,465,313 (GRCm39)	W220R	probably damaging	Het
Nln	A	G	13: 104,173,478 (GRCm39)	L576P	probably damaging	Het
Nlrc4	A	G	17: 74,753,483 (GRCm39)	M300T	probably benign	Het
Obscn	G	T	11: 59,020,403 (GRCm39)	D880E	possibly damaging	Het
Oprd1	T	C	4: 131,844,763 (GRCm39)	T82A	probably damaging	Het
Or2n1d	T	A	17: 38,646,183 (GRCm39)	I45N	probably damaging	Het
Or4f60	A	C	2: 111,902,445 (GRCm39)	V161G	probably benign	Het
Orc3	A	G	4: 34,595,136 (GRCm39)	C278R	probably damaging	Het
Pde4d	T	A	13: 109,769,322 (GRCm39)		probably null	Het
Pms1	T	C	1: 53,236,231 (GRCm39)	E683G	probably benign	Het
Prdm2	A	T	4: 142,905,869 (GRCm39)	Y73N	probably damaging	Het
Prkaa2	T	C	4: 104,932,740 (GRCm39)	Q36R	probably benign	Het
Psg22	A	G	7: 18,456,891 (GRCm39)	E258G	probably damaging	Het
Ptprf	T	C	4: 118,069,369 (GRCm39)	D1566G	probably damaging	Het
Rfwd3	T	A	8: 111,999,701 (GRCm39)	Y759F	probably benign	Het
Ripor2	A	G	13: 24,880,533 (GRCm39)	D411G	probably damaging	Het
Ryr2	A	C	13: 11,571,634 (GRCm39)		probably null	Het
Sdr42e1	T	C	8: 118,389,490 (GRCm39)	T384A	probably benign	Het
Sec1	A	T	7: 45,334,149 (GRCm39)		probably null	Het
Sec16a	A	T	2: 26,311,409 (GRCm39)	F616I		Het
Sipa1l2	T	C	8: 126,208,845 (GRCm39)	D521G	possibly damaging	Het
Smc1b	T	A	15: 84,981,743 (GRCm39)	Q759L	probably benign	Het
Snph	A	T	2: 151,442,263 (GRCm39)	S57R	probably damaging	Het
Srbd1	A	G	17: 86,443,749 (GRCm39)	V159A	probably benign	Het
Srsf2	A	T	11: 116,743,727 (GRCm39)	V10E	probably damaging	Het
Swap70	T	A	7: 109,863,316 (GRCm39)		probably null	Het
Synm	A	C	7: 67,382,954 (GRCm39)	*675G	probably null	Het
Tek	A	G	4: 94,699,582 (GRCm39)	E320G	probably benign	Het
Tenm3	T	C	8: 48,689,218 (GRCm39)	D2123G	probably damaging	Het
Tmod4	A	G	3: 95,033,174 (GRCm39)	K56R	possibly damaging	Het
Top3b	G	A	16: 16,695,714 (GRCm39)		probably benign	Het
Tssc4	G	T	7: 142,624,425 (GRCm39)	E244D	possibly damaging	Het
Twnk	G	A	19: 44,999,003 (GRCm39)		probably null	Het
Ube4a	A	C	9: 44,868,011 (GRCm39)	I45S	probably benign	Het
Unc79	A	T	12: 103,055,017 (GRCm39)	M954L	possibly damaging	Het
Vcpip1	A	T	1: 9,816,540 (GRCm39)	D614E	probably benign	Het
Vmn1r45	T	A	6: 89,910,035 (GRCm39)	I312L	probably benign	Het
Vmn1r77	A	G	7: 11,775,611 (GRCm39)	Y129C	probably damaging	Het
Zer1	A	G	2: 29,992,834 (GRCm39)	L600P	probably damaging	Het
Zfp266	T	C	9: 20,412,232 (GRCm39)	T114A	probably benign	Het
Zrsr2-ps1	T	C	11: 22,924,662 (GRCm39)		probably null	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
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
R9007:Sqor	UTSW	2	122,649,876 (GRCm39)	nonsense	probably null
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'- TCCCTATGCAGTGCTCTAAGG -3'
(R):5'- ACACAAACATGGGCATCTGTG -3'

Sequencing Primer
(F):5'- CCTATGCAGTGCTCTAAGGGTCAG -3'
(R):5'- CCAGCTTCCATTCTGAGGGTG -3'

Posted On

2019-10-07