Mutagenetix > Incidental Mutations

Incidental Mutation 'R3801:Suclg2'

272977

Institutional Source

Beutler Lab

Gene Symbol

Suclg2

Ensembl Gene

ENSMUSG00000061838

Gene Name

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

Synonyms

D6Wsu120e

MMRRC Submission

040760-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

95473009-95718800 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95497668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 372 (I372N)

Ref Sequence

ENSEMBL: ENSMUSP00000144827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079847] [ENSMUST00000204224]

AlphaFold

Q9Z2I8

Predicted Effect

probably damaging
Transcript: ENSMUST00000079847
AA Change: I323N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078774
Gene: ENSMUSG00000061838
AA Change: I323N

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC
Pfam:ATP-grasp_5	33	263	1.1e-11	PFAM
Pfam:ATP-grasp_2	40	248	2.4e-79	PFAM
Pfam:Ligase_CoA	307	427	3.4e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204224
AA Change: I372N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144827
Gene: ENSMUSG00000061838
AA Change: I372N

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC
Pfam:ATP-grasp_5	33	263	1.1e-11	PFAM
Pfam:ATP-grasp_2	40	248	2.4e-79	PFAM
Pfam:Ligase_CoA	307	427	3.4e-28	PFAM

Meta Mutation Damage Score

0.2543

Coding Region Coverage

1x: 99.2%
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 a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous knockout with a gene trap is embryonic lethal. Heterozygosity has a mild effect on mitochondrial respiration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,248,293	E54K	probably benign	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,749,420	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,801,059	Y172H	probably benign	Het
Brd1	C	T	15: 88,717,040	V464M	probably damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,824,263	D3G	possibly damaging	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Cgrrf1	G	T	14: 46,832,363	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,919,795	D614G	probably benign	Het
Cyp2c23	C	T	19: 44,007,039	V430I	probably benign	Het
Dazl	G	A	17: 50,281,281	R289W	probably benign	Het
Dsg1b	C	T	18: 20,390,203	P96S	probably damaging	Het
Dusp14	A	G	11: 84,048,709	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,151,926	D91G	probably benign	Het
Eif1	A	G	11: 100,320,824	K95E	probably damaging	Het
Fap	C	T	2: 62,546,650	V191I	probably benign	Het
Flnc	T	C	6: 29,447,404	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,869,148	T526A	possibly damaging	Het
Fras1	A	T	5: 96,733,932	T2508S	probably benign	Het
Gast	T	C	11: 100,336,810	S73P	probably damaging	Het
Grap2	A	G	15: 80,623,746	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,524	H132L	probably benign	Het
Iqcm	C	A	8: 75,669,393	T188K	possibly damaging	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,737,111	R963G	probably benign	Het
Lrtm2	G	A	6: 119,317,483	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,828,003	D406E	possibly damaging	Het
Meikin	T	A	11: 54,399,871		probably null	Het
Mybl1	A	T	1: 9,673,214	F538I	probably damaging	Het
Nectin2	T	C	7: 19,717,636	D491G	probably benign	Het
Nf1	A	G	11: 79,559,521	D511G	probably null	Het
Nid2	T	C	14: 19,809,997	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,122,703	M574L	probably benign	Het
Nrap	C	T	19: 56,321,779	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Olfr1287	A	T	2: 111,449,565	I142F	probably benign	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Phkb	G	T	8: 85,922,229	E225*	probably null	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prdm12	A	G	2: 31,651,947	K223E	probably damaging	Het
Prkd1	C	A	12: 50,383,422	R634L	possibly damaging	Het
Rassf3	T	A	10: 121,414,366	I181F	possibly damaging	Het
Samd8	G	A	14: 21,775,065	V30M	probably damaging	Het
Sema4f	A	T	6: 82,918,627	H308Q	possibly damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slpi	A	G	2: 164,356,238	L12P	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Spag17	A	G	3: 100,053,853	K985R	possibly damaging	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Tmed4	C	A	11: 6,274,233	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,055,171		probably null	Het
Top1	A	G	2: 160,702,768	H268R	probably damaging	Het
Triobp	A	T	15: 78,973,700	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,151,352	P536L	possibly damaging	Het
Usp13	C	T	3: 32,881,508	A360V	possibly damaging	Het
Vhl	G	A	6: 113,629,462	V147I	probably benign	Het
Vldlr	A	T	19: 27,217,621	T3S	probably damaging	Het
Vps54	T	A	11: 21,268,832	D130E	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,521,215	N37K	probably damaging	Het

Other mutations in Suclg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01892:Suclg2	APN	6	95579188	missense	probably damaging	1.00
IGL01904:Suclg2	APN	6	95588934	splice site	probably benign
IGL02245:Suclg2	APN	6	95595741	missense	possibly damaging	0.54
IGL03268:Suclg2	APN	6	95569592	missense	probably damaging	0.99
PIT4576001:Suclg2	UTSW	6	95587018	missense	possibly damaging	0.95
R0173:Suclg2	UTSW	6	95475173	splice site	probably benign
R1241:Suclg2	UTSW	6	95497582	splice site	probably benign
R1654:Suclg2	UTSW	6	95655551	missense	probably damaging	1.00
R1712:Suclg2	UTSW	6	95587016	missense	probably damaging	1.00
R1929:Suclg2	UTSW	6	95589094	splice site	probably benign
R3735:Suclg2	UTSW	6	95497696	missense	probably damaging	1.00
R3736:Suclg2	UTSW	6	95497696	missense	probably damaging	1.00
R3803:Suclg2	UTSW	6	95497668	missense	probably damaging	0.98
R3804:Suclg2	UTSW	6	95497668	missense	probably damaging	0.98
R3947:Suclg2	UTSW	6	95579238	splice site	probably null
R4768:Suclg2	UTSW	6	95566488	missense	probably damaging	0.99
R4953:Suclg2	UTSW	6	95566436	missense	probably damaging	1.00
R6140:Suclg2	UTSW	6	95569721	missense	probably damaging	1.00
R7105:Suclg2	UTSW	6	95595654	missense	possibly damaging	0.92
R7335:Suclg2	UTSW	6	95566460	missense	probably damaging	1.00
R7335:Suclg2	UTSW	6	95566463	missense	probably damaging	1.00
R7861:Suclg2	UTSW	6	95594722	missense	probably benign	0.00
R8220:Suclg2	UTSW	6	95588946	missense	possibly damaging	0.92
R8283:Suclg2	UTSW	6	95497719	critical splice acceptor site	probably null
R8726:Suclg2	UTSW	6	95655508	missense	probably damaging	1.00
R8840:Suclg2	UTSW	6	95569634	missense	probably damaging	1.00
R8854:Suclg2	UTSW	6	95595669	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCATCTCAGTTAACCCAG -3'
(R):5'- GCCTGTCTCAGTTCATAAGACTG -3'

Sequencing Primer
(F):5'- GCATCTCAGTTAACCCAGTTTTCTG -3'
(R):5'- TCTCAGTTCATAAGACTGGATGG -3'

Posted On

2015-03-25