Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Sqor'

62643

Institutional Source

Beutler Lab

Gene Symbol

Sqor

Ensembl Gene

ENSMUSG00000005803

Gene Name

sulfide quinone oxidoreductase

Synonyms

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

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0709 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

122607249-122651473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122641775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 32 (I32F)

Ref Sequence

ENSEMBL: ENSMUSP00000135786 (fasta)

Gene Model

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

AlphaFold

Q9R112

Predicted Effect

probably benign
Transcript: ENSMUST00000005953
AA Change: I250F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000005953
Gene: ENSMUSG00000005803
AA Change: I250F

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: I250F

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106133
Gene: ENSMUSG00000005803
AA Change: I250F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126403
AA Change: I250F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117575
Gene: ENSMUSG00000005803
AA Change: I250F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176343
AA Change: I32F

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135786
Gene: ENSMUSG00000005803
AA Change: I32F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176999

Meta Mutation Damage Score

0.3523

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,436,358 (GRCm39)	D137V	probably damaging	Het
Aar2	C	T	2: 156,408,930 (GRCm39)	P378L	probably damaging	Het
Abcc5	A	T	16: 20,195,342 (GRCm39)	H718Q	possibly damaging	Het
Ace	G	T	11: 105,872,364 (GRCm39)	L319F	probably damaging	Het
Angpt4	C	A	2: 151,776,434 (GRCm39)	P321T	possibly damaging	Het
Atrip	T	C	9: 108,896,171 (GRCm39)	N282S	probably benign	Het
AW554918	A	C	18: 25,596,711 (GRCm39)	S525R	probably damaging	Het
Ccdc136	T	A	6: 29,414,969 (GRCm39)	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,200,719 (GRCm39)	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,863,127 (GRCm39)	H223R	probably benign	Het
Cd109	T	C	9: 78,579,260 (GRCm39)	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,790,616 (GRCm39)		probably benign	Het
Copb2	A	T	9: 98,445,220 (GRCm39)		probably benign	Het
Csrnp3	C	T	2: 65,852,907 (GRCm39)	S445L	probably damaging	Het
Cxcl13	G	T	5: 96,106,530 (GRCm39)	C34F	probably damaging	Het
Dars2	T	C	1: 160,874,498 (GRCm39)	E397G	probably benign	Het
Dlg5	C	T	14: 24,196,323 (GRCm39)	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,606,222 (GRCm39)		probably benign	Het
Eif4a1	C	A	11: 69,561,078 (GRCm39)	A76S	probably damaging	Het
Fam162b	T	A	10: 51,463,347 (GRCm39)	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,167,057 (GRCm39)	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359 (GRCm39)	F152L	probably damaging	Het
Galnt2	G	A	8: 125,070,085 (GRCm39)	G534D	probably benign	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Golm2	T	A	2: 121,697,906 (GRCm39)	V74E	probably damaging	Het
Gprc5a	T	A	6: 135,055,948 (GRCm39)	S132T	probably damaging	Het
Hk3	G	A	13: 55,162,543 (GRCm39)	R47C	probably damaging	Het
Hrnr	A	T	3: 93,239,815 (GRCm39)	Q3351L	unknown	Het
Icam1	T	A	9: 20,930,423 (GRCm39)	F92L	probably damaging	Het
Ifi213	C	T	1: 173,417,366 (GRCm39)	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,275,888 (GRCm39)		probably benign	Het
Irx3	A	G	8: 92,526,048 (GRCm39)	V487A	possibly damaging	Het
Kalrn	A	G	16: 33,855,924 (GRCm39)	V204A	probably damaging	Het
Krt16	T	C	11: 100,137,280 (GRCm39)		probably benign	Het
Loxhd1	G	A	18: 77,492,665 (GRCm39)	V1369I	probably benign	Het
Med13	T	A	11: 86,210,422 (GRCm39)	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,234,962 (GRCm39)	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,877,732 (GRCm39)	D461V	unknown	Het
Nek6	T	A	2: 38,447,858 (GRCm39)	S41T	probably damaging	Het
Nudt22	T	C	19: 6,970,874 (GRCm39)	E232G	probably damaging	Het
Numbl	C	A	7: 26,973,415 (GRCm39)	F192L	probably damaging	Het
Or4c105	C	T	2: 88,648,226 (GRCm39)	T237I	probably benign	Het
Or7g12	T	A	9: 18,899,422 (GRCm39)	I46K	probably damaging	Het
P2rx4	T	C	5: 122,852,467 (GRCm39)	V47A	probably damaging	Het
Phka1	T	A	X: 101,629,710 (GRCm39)	I478F	probably damaging	Het
Pkn2	G	A	3: 142,536,281 (GRCm39)	T200I	probably damaging	Het
Plcg1	T	A	2: 160,593,698 (GRCm39)		probably null	Het
Polg2	C	T	11: 106,659,239 (GRCm39)	G425R	probably damaging	Het
Ptprm	G	T	17: 67,251,327 (GRCm39)		probably null	Het
Reg1	G	A	6: 78,405,101 (GRCm39)	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,084,367 (GRCm39)	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,265,603 (GRCm39)	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,836,985 (GRCm39)	V28M	possibly damaging	Het
Snap29	A	G	16: 17,224,012 (GRCm39)	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,469 (GRCm39)		probably benign	Het
Sorcs3	G	A	19: 48,475,845 (GRCm39)	A235T	probably benign	Het
Sp100	T	A	1: 85,622,002 (GRCm39)	N362K	probably damaging	Het
Stx6	C	T	1: 155,069,040 (GRCm39)	R189C	probably damaging	Het
Tchp	T	C	5: 114,855,514 (GRCm39)	I298T	probably damaging	Het
Themis	A	G	10: 28,637,570 (GRCm39)	I225V	probably benign	Het
Timm50	A	T	7: 28,006,366 (GRCm39)	V245E	probably damaging	Het
Tnxb	A	G	17: 34,908,328 (GRCm39)	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,398,814 (GRCm39)	R205H	probably benign	Het
Tradd	T	C	8: 105,987,276 (GRCm39)	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
Ttn	T	C	2: 76,729,747 (GRCm39)		probably benign	Het
Ttr	A	T	18: 20,803,034 (GRCm39)		probably null	Het
Ubp1	A	G	9: 113,773,999 (GRCm39)	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,897,881 (GRCm39)	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,263,166 (GRCm39)	N98K	probably damaging	Het
Yipf5	A	G	18: 40,340,825 (GRCm39)	S176P	probably benign	Het
Zpbp2	C	T	11: 98,444,763 (GRCm39)	T97I	probably damaging	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
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
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'- GGAGCCATGCAGGACTTAAAGTGAC -3'
(R):5'- TTCCCCAGCAAGTAGCAATGGTG -3'

Sequencing Primer
(F):5'- GAAGTTCTACCAGCTTGACTTG -3'
(R):5'- GGAAGTGCCCTACTGTCTC -3'

Posted On

2013-07-30