Mutagenetix > Incidental Mutations

Incidental Mutation 'R5650:Sucla2'

441393

Institutional Source

Beutler Lab

Gene Symbol

Sucla2

Ensembl Gene

ENSMUSG00000022110

Gene Name

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

Synonyms

4930547K18Rik

MMRRC Submission

043296-MU

Accession Numbers

Genbank: NM_011506; MGI: 1306775

Is this an essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R5650 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73525319-73596142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73591129 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 362 (K362E)

Ref Sequence

ENSEMBL: ENSMUSP00000123765 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022706
AA Change: K362E

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022706
Gene: ENSMUSG00000022110
AA Change: K362E

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

noncoding transcript
Transcript: ENSMUST00000159165

Predicted Effect

probably benign
Transcript: ENSMUST00000160507
AA Change: K362E

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123765
Gene: ENSMUSG00000022110
AA Change: K362E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161082

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 96.0%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	C	6: 85,620,271	L693P	probably damaging	Het
Ankrd11	T	C	8: 122,887,397	T2524A	probably damaging	Het
Cdr2	A	G	7: 120,958,336	I322T	probably damaging	Het
Cep76	A	T	18: 67,625,066	C385S	probably damaging	Het
Cercam	C	T	2: 29,881,815	S549F	probably damaging	Het
Coro1b	C	T	19: 4,150,611	T209I	possibly damaging	Het
Dlec1	G	T	9: 119,143,594	E1462*	probably null	Het
Dlgap5	C	T	14: 47,411,739	G166D	probably benign	Het
Ep400	C	T	5: 110,695,952		probably null	Het
Fgr	T	G	4: 133,000,222	V478G	probably benign	Het
Fmo9	T	A	1: 166,663,446	I437F	probably damaging	Het
Gabrd	A	T	4: 155,388,624	V64E	probably damaging	Het
Gsap	A	G	5: 21,251,053	Y385C	probably damaging	Het
Hat1	T	C	2: 71,434,034	V272A	probably benign	Het
Helz	T	A	11: 107,595,146	M127K	probably null	Het
Hist1h4d	A	T	13: 23,581,795	N65I	possibly damaging	Het
Hsp90b1	G	A	10: 86,693,503	A310V	probably damaging	Het
Hspa4	T	C	11: 53,265,092	Y662C	probably damaging	Het
Kif7	C	T	7: 79,710,979	R216H	probably damaging	Het
Klhl33	A	G	14: 50,891,828	I648T	probably benign	Het
Knl1	T	A	2: 119,081,550	L1716*	probably null	Het
Lgals9	T	A	11: 78,973,154	N55I	probably damaging	Het
Lmo7	A	T	14: 101,898,674	T606S	probably damaging	Het
Mdn1	A	G	4: 32,667,467		probably null	Het
Mip	A	T	10: 128,226,065	I62F	possibly damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Npepl1	T	C	2: 174,121,536	F454L	possibly damaging	Het
Oit1	A	T	14: 8,357,142	V96E	probably damaging	Het
Olfr290	T	A	7: 84,916,418	I213N	possibly damaging	Het
Olfr50	T	A	2: 36,793,265	S10T	probably benign	Het
Olfr63	A	T	17: 33,268,884	E53D	probably benign	Het
Olfr904	A	T	9: 38,464,727	K229*	probably null	Het
Oxct1	T	A	15: 4,142,850	V466D	probably damaging	Het
Piezo2	T	A	18: 63,011,721	I2768F	probably damaging	Het
Pitpnm1	C	A	19: 4,103,319	D158E	possibly damaging	Het
Plekho2	T	C	9: 65,556,736	N277S	probably benign	Het
Rab33b	T	C	3: 51,493,416	Y104H	probably damaging	Het
Rpap1	T	C	2: 119,773,850	S473G	probably benign	Het
Serpina1b	T	A	12: 103,728,435		probably null	Het
Slc25a17	A	T	15: 81,329,176		probably null	Het
Slc43a2	T	C	11: 75,545,807	C160R	probably damaging	Het
Slc7a4	G	T	16: 17,575,684	L84M	possibly damaging	Het
Slco1a4	T	A	6: 141,809,394	I561F	possibly damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,223,491		probably benign	Het
Specc1	T	C	11: 62,117,967	I183T	probably damaging	Het
Tcf12	A	T	9: 71,885,302		probably null	Het
Tlr11	C	T	14: 50,361,201	P215S	probably benign	Het
Tmem41b	A	G	7: 109,974,865	S198P	probably damaging	Het
Tubgcp3	A	G	8: 12,648,670	F427S	probably damaging	Het
Wdr81	T	A	11: 75,444,748	S1752C	probably damaging	Het
Zbtb7a	A	G	10: 81,145,049	Y359C	probably damaging	Het
Zfp37	T	C	4: 62,191,765	Y354C	probably damaging	Het
Zmpste24	T	A	4: 121,082,877	I191F	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
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
R7706:Sucla2	UTSW	14	73568993	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCATAGGATGTCTAGGTACCCAG -3'
(R):5'- TGAATGGCTCCCATGTCAGTC -3'

Sequencing Primer
(F):5'- TCTAGGTACCCAGTGTATTTTCATG -3'
(R):5'- TCCCATGTCAGTCCACAATAGG -3'

Posted On

2016-11-08