Mutagenetix > Incidental Mutations

Incidental Mutation 'R6338:Suclg1'

514321

Institutional Source

Beutler Lab

Gene Symbol

Suclg1

Ensembl Gene

ENSMUSG00000052738

Gene Name

succinate-CoA ligase, GDP-forming, alpha subunit

Synonyms

Sucla1, 1500000I01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73248382-73276911 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73264246 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 183 (I183T)

Ref Sequence

ENSEMBL: ENSMUSP00000065113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064740] [ENSMUST00000123159] [ENSMUST00000203632]

Predicted Effect

probably damaging
Transcript: ENSMUST00000064740
AA Change: I183T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065113
Gene: ENSMUSG00000052738
AA Change: I183T

Domain	Start	End	E-Value	Type
low complexity region	1	29	N/A	INTRINSIC
CoA_binding	51	147	6.28e-35	SMART
Pfam:Succ_CoA_lig	193	336	6.7e-11	PFAM
Pfam:Ligase_CoA	199	324	9.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173409

Predicted Effect

probably benign
Transcript: ENSMUST00000203632

SMART Domains

Protein: ENSMUSP00000145246
Gene: ENSMUSG00000052738

Domain	Start	End	E-Value	Type
low complexity region	1	28	N/A	INTRINSIC
PDB:1EUD\|A	37	67	2e-12	PDB
SCOP:d1euca1	41	68	6e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 98,257,715	Y128C	probably damaging	Het
Adam30	T	G	3: 98,161,541	I102S	probably damaging	Het
Adcy8	A	T	15: 64,920,617	D163E	possibly damaging	Het
Agrn	C	T	4: 156,170,585	E1614K	probably benign	Het
Aldh16a1	A	T	7: 45,141,961	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,845,570	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,833,725	S738G	probably benign	Het
Arid5b	C	A	10: 68,098,561	G504*	probably null	Het
Carmil3	T	C	14: 55,499,849	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,849,154	D186V	probably damaging	Het
Cdh23	T	C	10: 60,413,151	D882G	probably damaging	Het
Cdh4	T	C	2: 179,890,812	V689A	probably damaging	Het
Cntn6	T	A	6: 104,726,139	V174E	probably damaging	Het
Col7a1	C	T	9: 108,956,633	T390M	unknown	Het
Crybg1	T	C	10: 43,992,509	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,932,492	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,198,122	E55G	probably damaging	Het
Fam13a	A	G	6: 58,953,499	V476A	probably damaging	Het
Fem1b	A	T	9: 62,797,011	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489	V466I	probably benign	Het
Gm11639	C	T	11: 104,843,208	R2027*	probably null	Het
Gm20671	A	T	5: 32,820,647	D1794E	probably damaging	Het
Gpatch2	G	T	1: 187,225,514	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,816,456	T450A	probably benign	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Krit1	T	G	5: 3,836,857	M702R	probably benign	Het
Krt34	T	C	11: 100,038,490	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,547,316	N376K	possibly damaging	Het
Myo15	A	G	11: 60,478,133	E573G	probably damaging	Het
Olfr1224-ps1	T	A	2: 89,156,371	K268I	probably damaging	Het
Olfr1390	A	G	11: 49,340,867	S112G	probably benign	Het
Olfr366	A	T	2: 37,219,822	D111V	probably damaging	Het
Olfr391-ps	A	T	11: 73,799,319	L146Q	possibly damaging	Het
Olfr661	T	A	7: 104,688,171	V52E	possibly damaging	Het
Olfr736	T	A	14: 50,393,400	F215I	possibly damaging	Het
Phf20	A	T	2: 156,273,686	Q309L	possibly damaging	Het
Plcd1	G	A	9: 119,074,991	R292C	probably damaging	Het
Pold3	A	G	7: 100,088,105	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,739,679		probably null	Het
Ptprcap	A	G	19: 4,156,224	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,341,378	E843G	possibly damaging	Het
Rai14	T	C	15: 10,574,976	D632G	probably damaging	Het
Rnf149	A	T	1: 39,560,742	C268S	probably null	Het
Slc6a13	T	A	6: 121,334,839	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,384,043		probably null	Het
Slf1	T	A	13: 77,084,462		probably null	Het
Stard9	G	A	2: 120,697,485	V1408I	probably benign	Het
Syne1	T	C	10: 5,255,475	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,729,376	R121*	probably null	Het
Tdpoz2	C	T	3: 93,652,336	V110I	probably benign	Het
Ubn2	A	G	6: 38,490,714	T788A	probably benign	Het
Unc13c	T	A	9: 73,734,447	I1255F	probably damaging	Het
Usp44	G	T	10: 93,846,513	R275I	probably damaging	Het
Uspl1	A	G	5: 149,215,034	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,299,045	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,758,590	D170E	possibly damaging	Het

Other mutations in Suclg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01864:Suclg1	APN	6	73264297	intron	probably benign
IGL02657:Suclg1	APN	6	73260521	missense	probably damaging	1.00
IGL03250:Suclg1	APN	6	73270992	missense	probably benign	0.04
IGL03306:Suclg1	APN	6	73270992	missense	probably benign	0.04
R0012:Suclg1	UTSW	6	73270997	missense	possibly damaging	0.66
R0012:Suclg1	UTSW	6	73270997	missense	possibly damaging	0.66
R0038:Suclg1	UTSW	6	73260503	missense	probably benign	0.26
R0038:Suclg1	UTSW	6	73260503	missense	probably benign	0.26
R0379:Suclg1	UTSW	6	73256228	missense	possibly damaging	0.89
R0969:Suclg1	UTSW	6	73271116	missense	probably benign	0.33
R1123:Suclg1	UTSW	6	73256227	missense	probably benign	0.02
R2089:Suclg1	UTSW	6	73264276	missense	probably benign	0.00
R2091:Suclg1	UTSW	6	73264276	missense	probably benign	0.00
R2091:Suclg1	UTSW	6	73264276	missense	probably benign	0.00
R5083:Suclg1	UTSW	6	73263980	missense	probably benign
R6176:Suclg1	UTSW	6	73275343	missense	probably damaging	1.00
R6313:Suclg1	UTSW	6	73256209	missense	probably damaging	0.97
R7231:Suclg1	UTSW	6	73263971	missense	probably benign	0.00
R7246:Suclg1	UTSW	6	73276713	missense	unknown
R7250:Suclg1	UTSW	6	73271091	missense	probably benign	0.00
R7524:Suclg1	UTSW	6	73263841	missense	probably damaging	0.99
R7829:Suclg1	UTSW	6	73275243	intron	probably null

Predicted Primers

PCR Primer
(F):5'- GTCAAGCACAGACTGACACG -3'
(R):5'- AAGTGATTCTCAAAGAGGCCC -3'

Sequencing Primer
(F):5'- GCTAATCGGGCCAAACTGC -3'
(R):5'- CTCAAAGAGGCCCATCATATTTGAG -3'

Posted On

2018-04-27