Mutagenetix > Incidental Mutation

Incidental Mutation 'R5083:Suclg1'

387250

Institutional Source

Beutler Lab

Gene Symbol

Suclg1

Ensembl Gene

ENSMUSG00000052738

Gene Name

succinate-CoA ligase, GDP-forming, alpha subunit

Synonyms

Sucla1, 1500000I01Rik

MMRRC Submission

042672-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73225488-73253890 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73240963 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 164 (T164K)

Ref Sequence

ENSEMBL: ENSMUSP00000065113 (fasta)

Gene Model

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

AlphaFold

Q9WUM5

Predicted Effect

probably benign
Transcript: ENSMUST00000064740
AA Change: T164K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065113
Gene: ENSMUSG00000052738
AA Change: T164K

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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
A530064D06Rik	C	T	17: 48,473,558 (GRCm39)	V120M	possibly damaging	Het
Abca6	T	C	11: 110,109,793 (GRCm39)	D646G	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Arid1b	A	G	17: 5,364,293 (GRCm39)	T554A	possibly damaging	Het
Atp2a3	G	T	11: 72,873,652 (GRCm39)	V824L	probably null	Het
Bet1	T	C	6: 4,077,895 (GRCm39)	I115V	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cfap65	A	G	1: 74,945,600 (GRCm39)	S1373P	probably damaging	Het
Chd9	T	C	8: 91,711,002 (GRCm39)	L353P	probably damaging	Het
Chil3	C	A	3: 106,071,405 (GRCm39)		probably null	Het
Comp	C	T	8: 70,833,950 (GRCm39)	T655M	probably damaging	Het
Dctd	T	C	8: 48,564,751 (GRCm39)	Y18H	probably damaging	Het
Ddx39b	G	A	17: 35,472,005 (GRCm39)	G348D	possibly damaging	Het
Dhx36	A	T	3: 62,379,420 (GRCm39)	S889R	probably benign	Het
Dtx2	T	C	5: 136,041,044 (GRCm39)	Y150H	probably damaging	Het
Epx	A	G	11: 87,763,506 (GRCm39)	F238S	probably damaging	Het
Ergic2	T	C	6: 148,097,512 (GRCm39)	T154A	probably benign	Het
Esco1	A	G	18: 10,594,734 (GRCm39)	I184T	probably benign	Het
Esf1	G	T	2: 139,998,991 (GRCm39)	A495E	possibly damaging	Het
Esf1	T	C	2: 140,000,499 (GRCm39)	Y429C	possibly damaging	Het
Fcho1	C	A	8: 72,169,820 (GRCm39)	R101L	probably benign	Het
Foxn4	T	A	5: 114,394,988 (GRCm39)	D313V	probably damaging	Het
Gm11568	T	C	11: 99,748,798 (GRCm39)	M1T	probably null	Het
Gphn	T	A	12: 78,670,063 (GRCm39)		probably null	Het
Grid2	C	T	6: 64,297,136 (GRCm39)	Q500*	probably null	Het
Igsf10	A	G	3: 59,233,694 (GRCm39)	S1680P	probably damaging	Het
Ints12	T	C	3: 132,806,538 (GRCm39)	M155T	possibly damaging	Het
Invs	A	T	4: 48,396,307 (GRCm39)	M327L	possibly damaging	Het
Kdm3a	T	C	6: 71,598,346 (GRCm39)	E180G	probably damaging	Het
Mgat3	G	A	15: 80,095,499 (GRCm39)	V109M	possibly damaging	Het
Mrgprb3	A	G	7: 48,292,762 (GRCm39)	V263A	probably benign	Het
Mroh7	A	T	4: 106,547,515 (GRCm39)	V1109D	probably benign	Het
Myo15b	A	T	11: 115,757,482 (GRCm39)	T1111S	probably benign	Het
Myo19	G	T	11: 84,794,037 (GRCm39)	A654S	possibly damaging	Het
Mypn	A	T	10: 62,954,307 (GRCm39)	V1224D	probably damaging	Het
Nalcn	A	G	14: 123,560,706 (GRCm39)		probably null	Het
Or2a52	G	T	6: 43,144,273 (GRCm39)	A94S	probably benign	Het
Or52e7	A	T	7: 104,684,618 (GRCm39)	Y71F	probably damaging	Het
Or8c10	G	A	9: 38,279,358 (GRCm39)	C172Y	possibly damaging	Het
Pdcd2	A	G	17: 15,743,084 (GRCm39)	I247T	possibly damaging	Het
Pik3c2a	A	T	7: 115,941,636 (GRCm39)	N1571K	probably damaging	Het
Plagl2	T	C	2: 153,077,964 (GRCm39)	T6A	probably benign	Het
Ros1	T	A	10: 52,040,037 (GRCm39)	Y318F	possibly damaging	Het
Sdccag8	C	A	1: 176,652,458 (GRCm39)	H70N	probably damaging	Het
Skint1	A	G	4: 111,886,630 (GRCm39)	R359G	probably benign	Het
Slc44a5	A	T	3: 153,953,424 (GRCm39)	I269L	probably benign	Het
Slfn10-ps	T	A	11: 82,921,341 (GRCm39)		noncoding transcript	Het
Tgds	C	A	14: 118,353,491 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,643,877 (GRCm39)	D13117G	probably damaging	Het
Ttn	T	C	2: 76,701,081 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,483,671 (GRCm39)	I843N	possibly damaging	Het
Vmn2r52	A	T	7: 9,893,392 (GRCm39)	Y582*	probably null	Het
Vps33b	G	T	7: 79,924,389 (GRCm39)	K65N	probably damaging	Het
Zfp1010	A	G	2: 176,957,364 (GRCm39)	F45L	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
IGL02657:Suclg1	APN	6	73,237,504 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGTTTCAGGCCAAAGAGAAAAC -3'
(R):5'- CGATTTTGCATTCTCCAGGC -3'

Sequencing Primer
(F):5'- TTTCAGGCCAAAGAGAAAACAGGAG -3'
(R):5'- ATTCTAACCCCTAAGTCACATGTG -3'

Posted On

2016-06-06