Mutagenetix > Incidental Mutations

Incidental Mutation 'R7335:Suclg2'

569429

Institutional Source

Beutler Lab

Gene Symbol

Suclg2

Ensembl Gene

ENSMUSG00000061838

Gene Name

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

Synonyms

D6Wsu120e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95473009-95718800 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95566460 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 330 (N330I)

Ref Sequence

ENSEMBL: ENSMUSP00000144827 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000079847
AA Change: N281I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078774
Gene: ENSMUSG00000061838
AA Change: N281I

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: N330I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144827
Gene: ENSMUSG00000061838
AA Change: N330I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,602,266	S35G	probably benign	Het
Adcy6	G	T	15: 98,603,876	Q286K	probably benign	Het
Agrn	A	G	4: 156,176,532	S676P	probably damaging	Het
Arntl2	A	G	6: 146,809,719	M74V	probably benign	Het
Arpp21	A	T	9: 112,176,251		probably null	Het
C1rb	A	T	6: 124,575,279	I319F	possibly damaging	Het
C2cd3	T	C	7: 100,422,603	V629A		Het
Cacna1i	T	G	15: 80,375,575	F1287C	probably damaging	Het
Catspere2	A	G	1: 178,098,508	I247V	probably benign	Het
Cd101	C	G	3: 101,018,729	A229P	probably benign	Het
Cdh23	T	C	10: 60,305,116	D3151G	probably damaging	Het
Cenpc1	C	A	5: 86,034,353	K557N	possibly damaging	Het
Col6a4	G	A	9: 106,076,892	T416M	possibly damaging	Het
Cyp2c67	A	T	19: 39,640,007	C164*	probably null	Het
Dopey2	A	G	16: 93,747,508	E179G	probably benign	Het
Duoxa2	A	T	2: 122,301,340	Y170F	possibly damaging	Het
Fras1	A	G	5: 96,736,970	K2569R	possibly damaging	Het
Fsip2	C	A	2: 82,983,118	H3260Q	probably benign	Het
Gm3402	T	C	5: 146,515,233	I121T	probably benign	Het
Herc3	T	A	6: 58,876,788	H606Q	possibly damaging	Het
Hmcn2	T	C	2: 31,392,157	V1927A	possibly damaging	Het
Hnf4g	A	G	3: 3,652,864	H347R	possibly damaging	Het
Hs3st3a1	A	G	11: 64,520,337	T234A	probably benign	Het
Hyal1	G	T	9: 107,579,160	V379L	probably benign	Het
Ighv1-19	A	G	12: 114,708,951		probably benign	Het
Iqcc	T	A	4: 129,616,708	Q338L	not run	Het
Kdm5b	T	C	1: 134,560,439	V34A	probably damaging	Het
Lgals4	T	C	7: 28,841,146	F225L	probably benign	Het
Lmtk3	C	T	7: 45,795,157	T1088I	unknown	Het
Magel2	A	T	7: 62,380,776	S1143C	unknown	Het
Mapk4	A	T	18: 73,937,267	L185Q	possibly damaging	Het
Ncam1	A	G	9: 49,506,911	S1030P		Het
Nynrin	A	T	14: 55,863,914	T347S	probably benign	Het
Pak7	T	C	2: 136,098,299	T532A	probably damaging	Het
Pcdhb15	A	G	18: 37,474,336	E207G	probably damaging	Het
Pde6h	T	C	6: 136,963,213	W66R	probably damaging	Het
Pmaip1	T	C	18: 66,458,814		probably null	Het
Prkd3	A	G	17: 78,954,566	F774S	probably damaging	Het
Prox1	T	A	1: 190,161,845	R134S	possibly damaging	Het
Ptpn22	T	A	3: 103,886,019	H495Q	probably damaging	Het
Ptprj	G	T	2: 90,440,782	Q1201K	probably benign	Het
Rp1l1	A	G	14: 64,031,998	S1678G	probably benign	Het
Sez6l	G	T	5: 112,576,812		probably null	Het
Sgcg	T	A	14: 61,240,367	Y91F	probably damaging	Het
Skint2	C	T	4: 112,624,218	L93F	probably damaging	Het
Slc22a22	A	T	15: 57,263,375	D99E	probably benign	Het
Slco3a1	A	G	7: 74,284,342	I694T	probably damaging	Het
Smurf2	A	T	11: 106,846,085	I305N	possibly damaging	Het
Soga1	T	C	2: 157,031,005	Q862R	possibly damaging	Het
Stac3	T	A	10: 127,504,900	V178D	probably benign	Het
Tas2r118	C	T	6: 23,969,750	C104Y	probably damaging	Het
Tom1l2	T	G	11: 60,245,165	E327D	probably benign	Het
Trit1	T	C	4: 123,016,779	M57T	possibly damaging	Het
Vav1	G	A	17: 57,296,720	S134N	probably benign	Het
Vmn2r82	T	C	10: 79,378,888	L235P	probably damaging	Het
Zfp735	T	A	11: 73,711,553	V441E	possibly 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
R3801:Suclg2	UTSW	6	95497668	missense	probably damaging	0.98
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	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

Predicted Primers

PCR Primer
(F):5'- GACACCCTGAAGTTGCTAATAAG -3'
(R):5'- TCAGGGTACAGATTGGCCTAG -3'

Sequencing Primer
(F):5'- TAGCAGAATTTATACCCGAGGCTG -3'
(R):5'- GATTGGCCTAGAAATGATAGTGTTC -3'

Posted On

2019-09-13