Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Suclg1'

302379

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Suclg1

Ensembl Gene

ENSMUSG00000052738

Gene Name

succinate-CoA ligase, GDP-forming, alpha subunit

Synonyms

Sucla1, 1500000I01Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

73225488-73253890 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73237504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 83 (V83E)

Ref Sequence

ENSEMBL: ENSMUSP00000065113 (fasta)

Gene Model

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

AlphaFold

Q9WUM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000064740
AA Change: V83E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065113
Gene: ENSMUSG00000052738
AA Change: V83E

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: ENSMUST00000173366

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,725,648 (GRCm39)	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,567,776 (GRCm39)	L680P	probably damaging	Het
Alox12	A	T	11: 70,138,104 (GRCm39)	D410E	probably benign	Het
Amt	T	A	9: 108,178,579 (GRCm39)	V365E	probably damaging	Het
Ano9	A	G	7: 140,687,353 (GRCm39)	S321P	probably damaging	Het
Atp2c2	A	T	8: 120,479,771 (GRCm39)	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643 (GRCm39)	Y338N	probably benign	Het
Bcr	T	A	10: 74,990,796 (GRCm39)	D767E	probably benign	Het
Chfr	A	T	5: 110,302,705 (GRCm39)	Q350L	probably damaging	Het
Cops3	A	T	11: 59,721,043 (GRCm39)	L124H	probably damaging	Het
Ddx60	T	C	8: 62,437,149 (GRCm39)	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,975,479 (GRCm39)		probably benign	Het
Dym	C	T	18: 75,215,527 (GRCm39)	Q238*	probably null	Het
Fbn1	A	T	2: 125,193,945 (GRCm39)	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,212,203 (GRCm39)	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,309,873 (GRCm39)	R221L	probably damaging	Het
Gpat2	A	G	2: 127,269,251 (GRCm39)	N8S	probably benign	Het
Gvin2	T	C	7: 105,545,972 (GRCm39)	K2360R	probably damaging	Het
Hycc2	A	T	1: 58,574,561 (GRCm39)	W327R	probably damaging	Het
Ift52	A	G	2: 162,887,135 (GRCm39)	D379G	probably damaging	Het
Inhbe	C	A	10: 127,186,645 (GRCm39)	L178F	probably damaging	Het
Ipo5	T	C	14: 121,181,212 (GRCm39)	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,099,968 (GRCm39)	D1507E	possibly damaging	Het
Lnx2	A	G	5: 146,964,984 (GRCm39)	V413A	probably damaging	Het
Lrrc40	C	A	3: 157,742,410 (GRCm39)	F16L	probably damaging	Het
Magi2	A	G	5: 19,432,581 (GRCm39)	K99E	probably damaging	Het
Me3	A	G	7: 89,495,461 (GRCm39)	I357M	probably benign	Het
Med30	A	G	15: 52,582,761 (GRCm39)	Y66C	probably benign	Het
Mief2	A	T	11: 60,621,783 (GRCm39)	S118C	probably damaging	Het
Mylip	A	G	13: 45,544,722 (GRCm39)	S49G	probably benign	Het
Ncoa7	T	A	10: 30,528,972 (GRCm39)	D107V	probably damaging	Het
Nvl	C	A	1: 180,934,541 (GRCm39)	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,508,645 (GRCm39)	T501I	probably benign	Het
Ormdl2	T	C	10: 128,656,186 (GRCm39)	I40V	probably benign	Het
Pde6b	G	T	5: 108,568,142 (GRCm39)		probably benign	Het
Ralgapa1	A	C	12: 55,720,292 (GRCm39)	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,341,078 (GRCm39)		probably null	Het
Sema3c	A	T	5: 17,781,866 (GRCm39)	M1L	possibly damaging	Het
Sema3c	T	A	5: 17,867,972 (GRCm39)	Y128N	probably damaging	Het
Sema4b	G	A	7: 79,866,789 (GRCm39)	G255D	probably damaging	Het
Setd1a	C	T	7: 127,394,997 (GRCm39)		probably benign	Het
Sirpb1a	A	C	3: 15,482,111 (GRCm39)	S72R	possibly damaging	Het
Slu7	T	A	11: 43,332,849 (GRCm39)		probably null	Het
Spata19	T	C	9: 27,309,276 (GRCm39)	V59A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Syncrip	G	T	9: 88,338,457 (GRCm39)	R536S	probably benign	Het
Tap2	T	C	17: 34,424,432 (GRCm39)	V55A	probably damaging	Het
Tekt4	T	C	17: 25,692,732 (GRCm39)	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,602 (GRCm39)	D462E	possibly damaging	Het
Ubqln3	T	G	7: 103,791,170 (GRCm39)	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,886,727 (GRCm39)	I272K	probably benign	Het
Xpr1	T	C	1: 155,166,026 (GRCm39)	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,247,859 (GRCm39)	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,628,501 (GRCm39)	H159L	probably damaging	Het

Other mutations in Suclg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01864:Suclg1	APN	6	73,241,280 (GRCm39)	intron	probably benign
IGL03250:Suclg1	APN	6	73,247,975 (GRCm39)	missense	probably benign	0.04
IGL03306:Suclg1	APN	6	73,247,975 (GRCm39)	missense	probably benign	0.04
R0012:Suclg1	UTSW	6	73,247,980 (GRCm39)	missense	possibly damaging	0.66
R0012:Suclg1	UTSW	6	73,247,980 (GRCm39)	missense	possibly damaging	0.66
R0038:Suclg1	UTSW	6	73,237,486 (GRCm39)	missense	probably benign	0.26
R0038:Suclg1	UTSW	6	73,237,486 (GRCm39)	missense	probably benign	0.26
R0379:Suclg1	UTSW	6	73,233,211 (GRCm39)	missense	possibly damaging	0.89
R0969:Suclg1	UTSW	6	73,248,099 (GRCm39)	missense	probably benign	0.33
R1123:Suclg1	UTSW	6	73,233,210 (GRCm39)	missense	probably benign	0.02
R2089:Suclg1	UTSW	6	73,241,259 (GRCm39)	missense	probably benign	0.00
R2091:Suclg1	UTSW	6	73,241,259 (GRCm39)	missense	probably benign	0.00
R2091:Suclg1	UTSW	6	73,241,259 (GRCm39)	missense	probably benign	0.00
R5083:Suclg1	UTSW	6	73,240,963 (GRCm39)	missense	probably benign
R6176:Suclg1	UTSW	6	73,252,326 (GRCm39)	missense	probably damaging	1.00
R6313:Suclg1	UTSW	6	73,233,192 (GRCm39)	missense	probably damaging	0.97
R6338:Suclg1	UTSW	6	73,241,229 (GRCm39)	missense	probably damaging	1.00
R7231:Suclg1	UTSW	6	73,240,954 (GRCm39)	missense	probably benign	0.00
R7246:Suclg1	UTSW	6	73,253,696 (GRCm39)	missense	unknown
R7250:Suclg1	UTSW	6	73,248,074 (GRCm39)	missense	probably benign	0.00
R7524:Suclg1	UTSW	6	73,240,824 (GRCm39)	missense	probably damaging	0.99
R7829:Suclg1	UTSW	6	73,252,226 (GRCm39)	splice site	probably null
R8166:Suclg1	UTSW	6	73,237,555 (GRCm39)	missense	probably damaging	1.00
R8721:Suclg1	UTSW	6	73,246,362 (GRCm39)	missense	probably damaging	1.00
R8735:Suclg1	UTSW	6	73,253,729 (GRCm39)	missense	unknown
R8799:Suclg1	UTSW	6	73,248,091 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16