Mutagenetix > Incidental Mutation

Incidental Mutation 'R8913:Sqor'

678744

Institutional Source

Beutler Lab

Gene Symbol

Sqor

Ensembl Gene

ENSMUSG00000005803

Gene Name

sulfide quinone oxidoreductase

Synonyms

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

MMRRC Submission

068702-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122607249-122651473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122641806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 260 (K260R)

Ref Sequence

ENSEMBL: ENSMUSP00000005953 (fasta)

Gene Model

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

AlphaFold

Q9R112

Predicted Effect

probably benign
Transcript: ENSMUST00000005953
AA Change: K260R

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

SMART Domains

Protein: ENSMUSP00000005953
Gene: ENSMUSG00000005803
AA Change: K260R

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: K260R

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

SMART Domains

Protein: ENSMUSP00000106133
Gene: ENSMUSG00000005803
AA Change: K260R

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117575
Gene: ENSMUSG00000005803
AA Change: K260R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176343
AA Change: K42R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000135786
Gene: ENSMUSG00000005803
AA Change: K42R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

96% (65/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,303,972 (GRCm39)	Y2102H	probably damaging	Het
Adam30	A	T	3: 98,068,580 (GRCm39)	I10F	possibly damaging	Het
Afap1l1	C	T	18: 61,889,910 (GRCm39)		probably null	Het
Asz1	T	C	6: 18,054,570 (GRCm39)	D411G	probably benign	Het
Atp8b2	A	G	3: 89,852,830 (GRCm39)	L144P		Het
Atxn7l3	G	T	11: 102,185,787 (GRCm39)	N13K	probably damaging	Het
Cap1	C	A	4: 122,761,445 (GRCm39)		probably null	Het
Cd244a	T	A	1: 171,401,774 (GRCm39)	Y167N	probably damaging	Het
Cd244a	A	T	1: 171,401,775 (GRCm39)	Y167F	probably damaging	Het
Cd302	A	G	2: 60,088,241 (GRCm39)	F92S	probably damaging	Het
Cep128	C	T	12: 91,331,221 (GRCm39)		probably null	Het
Csmd2	C	A	4: 128,417,351 (GRCm39)	P2770T		Het
Cyp4f40	G	T	17: 32,886,810 (GRCm39)	D122Y	probably benign	Het
Dnah14	A	G	1: 181,553,063 (GRCm39)	E2583G	probably benign	Het
Dync1h1	T	C	12: 110,624,602 (GRCm39)	V3714A	probably benign	Het
Fam114a1	G	T	5: 65,185,821 (GRCm39)	A381S	possibly damaging	Het
Fzd8	A	G	18: 9,213,869 (GRCm39)	Y317C	probably damaging	Het
Igfn1	T	C	1: 135,891,579 (GRCm39)	K2312R	possibly damaging	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Klhl23	G	A	2: 69,664,234 (GRCm39)	E528K	probably damaging	Het
Lama4	T	C	10: 38,982,039 (GRCm39)	V1756A	probably benign	Het
Lcn2	C	A	2: 32,277,158 (GRCm39)	V53F	possibly damaging	Het
Lrp4	T	C	2: 91,331,785 (GRCm39)	S1633P	probably benign	Het
Map3k19	A	G	1: 127,750,363 (GRCm39)	V996A	probably benign	Het
Mettl9	T	G	7: 120,675,539 (GRCm39)	F313C	probably damaging	Het
Mios	T	A	6: 8,215,924 (GRCm39)	H373Q	probably benign	Het
Mroh2b	A	G	15: 4,947,010 (GRCm39)		probably benign	Het
Myo1a	T	C	10: 127,541,710 (GRCm39)	V83A	probably benign	Het
Naxe	T	C	3: 87,965,665 (GRCm39)	T45A	probably benign	Het
Nckap1	A	G	2: 80,401,564 (GRCm39)	V40A	possibly damaging	Het
Nherf2	G	A	17: 24,863,839 (GRCm39)	S12L	probably benign	Het
Nmt1	G	T	11: 102,948,271 (GRCm39)	R265L	probably damaging	Het
Nwd2	C	A	5: 63,963,440 (GRCm39)	A1008D	possibly damaging	Het
Obsl1	C	T	1: 75,467,892 (GRCm39)	A1334T	probably benign	Het
Oplah	T	C	15: 76,181,680 (GRCm39)	M1114V		Het
Or10a3n	T	C	7: 108,492,736 (GRCm39)	R298G	probably damaging	Het
Or10a49	A	T	7: 108,467,809 (GRCm39)	V184E	probably damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or2w6	A	G	13: 21,843,274 (GRCm39)	F73S	probably damaging	Het
Or4c29	A	G	2: 88,739,991 (GRCm39)	F249L	probably benign	Het
Pdlim5	A	T	3: 141,950,666 (GRCm39)	F582L	probably damaging	Het
Plcb2	A	G	2: 118,544,365 (GRCm39)	F671L	probably damaging	Het
Ppfibp1	T	A	6: 146,923,947 (GRCm39)	V725E	probably damaging	Het
Psmd11	C	T	11: 80,362,338 (GRCm39)	T396I	probably damaging	Het
Ptn	C	T	6: 36,718,276 (GRCm39)	D130N	probably benign	Het
Rasgrf2	T	C	13: 92,159,034 (GRCm39)	D473G	probably benign	Het
Robo1	A	C	16: 72,701,622 (GRCm39)	I163L	probably damaging	Het
Ror1	A	C	4: 100,265,027 (GRCm39)	D167A	possibly damaging	Het
Rps6ka5	T	C	12: 100,520,595 (GRCm39)	D709G		Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Runx2	T	C	17: 44,919,169 (GRCm39)	T472A	probably benign	Het
Scn11a	T	C	9: 119,623,094 (GRCm39)	T582A	probably damaging	Het
Serpina3m	C	T	12: 104,355,477 (GRCm39)	A48V	probably benign	Het
Smim8	T	A	4: 34,769,056 (GRCm39)	D76V	possibly damaging	Het
Syde2	A	T	3: 145,708,148 (GRCm39)	I963F	probably damaging	Het
Tasor	A	T	14: 27,188,145 (GRCm39)	N864Y	probably damaging	Het
Tenm4	G	A	7: 96,351,952 (GRCm39)		probably benign	Het
Tm7sf3	A	T	6: 146,527,621 (GRCm39)	Y68*	probably null	Het
Tmtc2	T	A	10: 105,158,887 (GRCm39)	I569F	probably damaging	Het
Upf3a	G	A	8: 13,845,728 (GRCm39)	V276M	possibly damaging	Het
Vmn1r174	G	A	7: 23,453,375 (GRCm39)	V14M	possibly damaging	Het
Vmn2r104	A	G	17: 20,249,968 (GRCm39)	S768P	probably damaging	Het
Vmn2r60	A	T	7: 41,785,778 (GRCm39)	T194S	probably benign	Het
Zfhx2	A	G	14: 55,309,543 (GRCm39)	M852T	probably benign	Het
Zfp207	T	A	11: 80,276,744 (GRCm39)	D19E	probably damaging	Het
Zfp318	G	A	17: 46,722,699 (GRCm39)	M1567I	probably benign	Het
Zfp407	T	A	18: 84,578,653 (GRCm39)	E820V	probably damaging	Het
Zfp512b	A	T	2: 181,227,282 (GRCm39)	C46S		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
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'- TCTACCAGCTTGACTTGTGAG -3'
(R):5'- GCAAGTAGCAATGGTGGTTCAG -3'

Sequencing Primer
(F):5'- CCAGCTTGACTTGTGAGAAAATCTC -3'
(R):5'- GTTCAGGGGGAAGTGCC -3'

Posted On

2021-08-02