Mutagenetix > Incidental Mutation

Incidental Mutation 'R7706:Sucla2'

594295

Institutional Source

Beutler Lab

Gene Symbol

Sucla2

Ensembl Gene

ENSMUSG00000022110

Gene Name

succinate-Coenzyme A ligase, ADP-forming, beta subunit

Synonyms

4930547K18Rik

MMRRC Submission

Accession Numbers

Genbank: NM_011506; MGI: 1306775

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R7706 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73525319-73596142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73568993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 168 (Y168C)

Ref Sequence

ENSEMBL: ENSMUSP00000022706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022706] [ENSMUST00000160507]

AlphaFold

Q9Z2I9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022706
AA Change: Y168C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022706
Gene: ENSMUSG00000022110
AA Change: Y168C

Domain	Start	End	E-Value	Type
Pfam:ATP-grasp_5	44	277	1.6e-11	PFAM
Pfam:ATP-grasp_2	54	262	9.2e-78	PFAM
Pfam:Ligase_CoA	321	441	2.2e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160507
AA Change: Y168C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123765
Gene: ENSMUSG00000022110
AA Change: Y168C

Domain	Start	End	E-Value	Type
Pfam:ATP-grasp_5	44	277	3e-11	PFAM
Pfam:ATP-grasp_2	54	262	9.5e-77	PFAM
Pfam:Ligase_CoA	321	441	2.2e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit perinatal lethality with reduced size, placenta mineralization, decreased mitochondrial DNA and respiration. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, other(2) Gene trapped(5)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	G	A	17: 45,733,657	T46I	unknown	Het
Arhgef1	G	A	7: 24,916,881	D317N	probably damaging	Het
Atxn7l2	T	C	3: 108,207,403	D109G	probably damaging	Het
B4galnt3	C	A	6: 120,218,952	V305L	probably benign	Het
C9	T	A	15: 6,458,921	N85K	probably benign	Het
Cacna1g	T	C	11: 94,415,041	I1941V	probably benign	Het
Capn15	A	G	17: 25,964,151	V518A	probably benign	Het
Chst10	A	T	1: 38,866,025	Y200N	probably damaging	Het
Cir1	A	G	2: 73,312,479	S4P	probably damaging	Het
Cish	G	A	9: 107,300,641	R172Q	probably benign	Het
Cnot10	A	T	9: 114,593,438	N693K	probably damaging	Het
Ddx6	A	G	9: 44,627,642	D249G	probably damaging	Het
Dennd6b	T	C	15: 89,185,244	D528G	probably benign	Het
Dmtf1	T	A	5: 9,124,489	T484S	possibly damaging	Het
Dnaaf5	T	C	5: 139,152,841	V259A	probably damaging	Het
Dzip1l	A	T	9: 99,637,536	S39C	probably damaging	Het
Efcab8	T	A	2: 153,781,775	M60K		Het
Eml2	T	A	7: 19,186,110	V113D	possibly damaging	Het
Fnip1	A	T	11: 54,515,499	I1141F	probably benign	Het
Gm7298	T	A	6: 121,735,611	S127R	probably damaging	Het
Hcn2	G	A	10: 79,734,183	R622Q	possibly damaging	Het
Ift172	C	T	5: 31,266,379	W746*	probably null	Het
Irs1	A	G	1: 82,287,691	Y935H	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Klhl20	T	C	1: 161,109,257	I183V	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lalba	T	C	15: 98,481,593	D103G	probably damaging	Het
Lpin3	T	C	2: 160,905,290	L822P	probably damaging	Het
Lrrc38	G	A	4: 143,350,275	C36Y	probably damaging	Het
Ly6e	T	C	15: 74,958,334	S46P	possibly damaging	Het
Narfl	T	C	17: 25,782,252	*493Q	probably null	Het
Nav2	T	C	7: 49,594,319	I2098T	probably benign	Het
Nipbl	T	C	15: 8,351,526	E594G	probably benign	Het
Olfr552	T	A	7: 102,604,646	H97Q	probably benign	Het
Parn	T	C	16: 13,607,253	D432G	probably damaging	Het
Pcdh20	A	G	14: 88,467,357	S836P	probably damaging	Het
Pcmtd2	C	T	2: 181,855,075	R282C	probably damaging	Het
Ppp2r3c	A	G	12: 55,281,705	I425T	probably benign	Het
Samm50	T	A	15: 84,200,880		probably null	Het
Sars	C	T	3: 108,431,464		probably null	Het
Senp8	A	G	9: 59,737,838	Y12H	possibly damaging	Het
Slc13a4	T	C	6: 35,270,355	I577V	possibly damaging	Het
Srr	T	G	11: 74,913,135		probably null	Het
Steap2	T	A	5: 5,682,967	N19I	possibly damaging	Het
Tha1	T	C	11: 117,869,455	Q275R	probably damaging	Het
Trim56	T	C	5: 137,114,656	N2S	probably benign	Het
Tubgcp6	T	A	15: 89,104,223	H849L	probably benign	Het
Uevld	A	G	7: 46,948,027	I72T	possibly damaging	Het
Ybx1	A	G	4: 119,278,967	*323Q	probably null	Het
Zfp354b	C	T	11: 50,928,563		probably null	Het
Zfp36l2	A	T	17: 84,186,918	L97Q	probably benign	Het
Zfp729a	T	A	13: 67,623,493	R78S	possibly damaging	Het

Other mutations in Sucla2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Sucla2	APN	14	73590907	missense	possibly damaging	0.81
IGL01539:Sucla2	APN	14	73591121	missense	probably damaging	0.97
IGL02064:Sucla2	APN	14	73579473	nonsense	probably null
IGL02240:Sucla2	APN	14	73590847	missense	probably damaging	1.00
IGL02640:Sucla2	APN	14	73581806	missense	probably benign	0.45
IGL02965:Sucla2	APN	14	73579431	missense	probably benign	0.00
3-1:Sucla2	UTSW	14	73568957	nonsense	probably null
PIT4812001:Sucla2	UTSW	14	73579449	missense	possibly damaging	0.89
R0189:Sucla2	UTSW	14	73592648	missense	probably damaging	1.00
R0764:Sucla2	UTSW	14	73560634	unclassified	probably benign
R0765:Sucla2	UTSW	14	73560634	unclassified	probably benign
R0844:Sucla2	UTSW	14	73560634	unclassified	probably benign
R1065:Sucla2	UTSW	14	73560634	unclassified	probably benign
R1067:Sucla2	UTSW	14	73560634	unclassified	probably benign
R1136:Sucla2	UTSW	14	73560634	unclassified	probably benign
R1162:Sucla2	UTSW	14	73560634	unclassified	probably benign
R1311:Sucla2	UTSW	14	73560634	unclassified	probably benign
R1312:Sucla2	UTSW	14	73560634	unclassified	probably benign
R1345:Sucla2	UTSW	14	73560634	unclassified	probably benign
R1416:Sucla2	UTSW	14	73560634	unclassified	probably benign
R1677:Sucla2	UTSW	14	73592681	missense	probably damaging	1.00
R1968:Sucla2	UTSW	14	73593679	missense	probably damaging	0.99
R2126:Sucla2	UTSW	14	73592668	missense	possibly damaging	0.71
R2484:Sucla2	UTSW	14	73581709	missense	probably benign	0.12
R2566:Sucla2	UTSW	14	73552804	intron	probably benign
R3706:Sucla2	UTSW	14	73591052	missense	probably damaging	1.00
R4725:Sucla2	UTSW	14	73568989	missense	possibly damaging	0.94
R5620:Sucla2	UTSW	14	73595396	missense	probably damaging	0.99
R5650:Sucla2	UTSW	14	73591129	missense	probably benign	0.38
R5947:Sucla2	UTSW	14	73592669	missense	probably damaging	1.00
R6045:Sucla2	UTSW	14	73568964	nonsense	probably null
R6236:Sucla2	UTSW	14	73593750	missense	probably benign	0.39
R6693:Sucla2	UTSW	14	73568667	nonsense	probably null
R8786:Sucla2	UTSW	14	73560465	missense	probably benign	0.13
R9055:Sucla2	UTSW	14	73581628	intron	probably benign
R9064:Sucla2	UTSW	14	73590863	missense	probably benign
R9380:Sucla2	UTSW	14	73590872	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACTGAGCGTTACCTGTG -3'
(R):5'- ACAGTGGAATTCCCCTATCGC -3'

Sequencing Primer
(F):5'- ACTGAGCGTTACCTGTGGTGTAG -3'
(R):5'- AGTGGAATTCCCCTATCGCTTTTTAG -3'

Posted On

2019-11-12