Mutagenetix > Incidental Mutation

Incidental Mutation 'R7861:Suclg2'

607508

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 #

R7861 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95473009-95718800 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 95594722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 120 (Q120K)

Ref Sequence

ENSEMBL: ENSMUSP00000144827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079847] [ENSMUST00000204224] [ENSMUST00000204567]

AlphaFold

Q9Z2I8

Predicted Effect

probably benign
Transcript: ENSMUST00000079847
AA Change: Q71K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000078774
Gene: ENSMUSG00000061838
AA Change: Q71K

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 benign
Transcript: ENSMUST00000204224
AA Change: Q120K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144827
Gene: ENSMUSG00000061838
AA Change: Q120K

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 benign
Transcript: ENSMUST00000204567
AA Change: Q71K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000145471
Gene: ENSMUSG00000061838
AA Change: Q71K

Domain	Start	End	E-Value	Type
Pfam:ATP-grasp_2	1	83	9.5e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,649,494	I50F	possibly damaging	Het
Abcc3	T	C	11: 94,357,249	D1175G	probably null	Het
Accs	C	A	2: 93,835,732	*503L	probably null	Het
Adgra2	A	G	8: 27,114,457	E520G	probably damaging	Het
Aldh7a1	C	A	18: 56,548,453	C215F	probably benign	Het
Apbb1ip	A	C	2: 22,816,978	D9A	unknown	Het
Atad2	G	A	15: 58,125,780	A228V	probably benign	Het
Atp10a	T	C	7: 58,788,359	S430P	probably damaging	Het
Atp1a3	T	C	7: 25,001,148	D6G	unknown	Het
Brca1	A	T	11: 101,526,422	N295K	possibly damaging	Het
Caly	C	A	7: 140,081,388		probably benign	Het
Ces1h	A	G	8: 93,357,425	Y386H	unknown	Het
Col14a1	A	G	15: 55,444,616	D1044G	unknown	Het
Csf2rb	A	G	15: 78,349,157	D888G	probably damaging	Het
Cux1	T	C	5: 136,252,604	E568G	possibly damaging	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
Dhrs7b	T	A	11: 60,855,742	L219Q	probably damaging	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Dnah14	C	T	1: 181,616,759	P545S	probably damaging	Het
Dnajc24	A	T	2: 106,002,035	M1K	probably null	Het
Dusp12	C	T	1: 170,874,526	W301*	probably null	Het
Dyrk1a	G	T	16: 94,691,716	G603*	probably null	Het
Eif4g1	T	A	16: 20,679,702	V403E	probably benign	Het
Epn3	T	C	11: 94,496,274	E90G	probably damaging	Het
Etl4	A	G	2: 20,805,910	S1303G	probably benign	Het
Evpl	A	T	11: 116,228,069	Y627N	probably damaging	Het
Fbxw25	A	T	9: 109,664,557	L22*	probably null	Het
Fcamr	T	A	1: 130,814,638	N587K	probably benign	Het
Fgd6	A	G	10: 94,103,331	N946S	probably benign	Het
Fndc3b	A	T	3: 27,468,999	I477N	possibly damaging	Het
Grifin	C	T	5: 140,564,525	A54T	probably benign	Het
Gtf2b	A	G	3: 142,781,344	I180M	probably damaging	Het
Invs	A	T	4: 48,397,559	D378V	possibly damaging	Het
Itgb6	T	C	2: 60,628,444	E378G	probably damaging	Het
Khdc1a	T	C	1: 21,350,399	I81T	possibly damaging	Het
Kif20b	T	A	19: 34,939,922	D617E	probably damaging	Het
Kifc3	T	A	8: 95,107,537		probably null	Het
Kirrel3	C	T	9: 35,020,123	H403Y	possibly damaging	Het
Klf15	G	A	6: 90,466,838	V132I	probably benign	Het
Kmt2a	A	G	9: 44,818,734	S3429P	unknown	Het
Lama1	T	G	17: 67,809,221	L2361R		Het
Lrp1b	T	C	2: 40,697,558	D3895G		Het
Mcoln3	A	C	3: 146,124,791	E92A	possibly damaging	Het
Myo3b	T	C	2: 70,108,688	M135T	probably damaging	Het
Mysm1	A	G	4: 94,946,967	*820Q	probably null	Het
Ncoa7	A	G	10: 30,691,060	S541P	probably benign	Het
Nup54	T	C	5: 92,431,093	T33A	unknown	Het
Olfr118	C	A	17: 37,672,517	Q165K	possibly damaging	Het
Olfr1290	T	A	2: 111,490,024	I45F	probably damaging	Het
Olfr1496	T	C	19: 13,781,446	V276A	possibly damaging	Het
Olfr45	T	G	7: 140,691,571	I222S	probably damaging	Het
Olfr586	T	A	7: 103,122,692	I27F	probably benign	Het
Otud6b	A	G	4: 14,826,414	C18R	probably benign	Het
Pde4d	A	G	13: 109,935,324	E284G	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431		probably benign	Het
Pidd1	C	A	7: 141,440,142	W598L	probably damaging	Het
Pira2	A	T	7: 3,844,544	C49S	probably damaging	Het
Pramef6	T	C	4: 143,897,718	M70V	possibly damaging	Het
Prdx1	T	G	4: 116,693,738	D135E	probably benign	Het
Rab15	T	A	12: 76,803,129	Y88F	probably damaging	Het
Rem2	C	A	14: 54,477,799	H144Q	probably damaging	Het
Sel1l3	T	C	5: 53,144,064	D737G	probably damaging	Het
Srd5a3	C	T	5: 76,147,819	Q119*	probably null	Het
Tacc2	T	A	7: 130,625,431	M1282K	probably benign	Het
Tbc1d5	T	A	17: 50,756,692	Q620L	probably damaging	Het
Tdrd3	G	T	14: 87,472,154	A91S	probably damaging	Het
Thsd7b	T	A	1: 130,159,698	F1184Y	probably benign	Het
Trim28	T	A	7: 13,028,412	V321E	possibly damaging	Het
Trim5	C	A	7: 104,266,468		probably null	Het
Ugt2b37	A	T	5: 87,242,440	Y382*	probably null	Het
Usp40	C	T	1: 87,982,130	G534D	probably damaging	Het
Usp53	A	T	3: 122,934,463	H823Q	probably benign	Het
Vmn2r12	T	A	5: 109,087,963	M508L	probably benign	Het
Vmn2r56	T	A	7: 12,715,424	I296F	probably benign	Het
Vps13a	T	C	19: 16,655,304	S2563G	probably damaging	Het
Wdr59	A	G	8: 111,494,280	F207L		Het
Zan	A	G	5: 137,407,033	S3777P	unknown	Het
Zfp277	T	C	12: 40,315,881	N530D	possibly damaging	Het
Zfp365	G	A	10: 67,909,919	R10W	probably damaging	Het
Zfp384	A	T	6: 125,036,325	H452L	probably damaging	Het
Zfyve28	A	T	5: 34,217,143	L509Q	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
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	95566460	missense	probably damaging	1.00
R7335:Suclg2	UTSW	6	95566463	missense	probably damaging	1.00
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
R9444:Suclg2	UTSW	6	95566493	missense	probably damaging	1.00
R9500:Suclg2	UTSW	6	95569685	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCTTCCAAGACACAGCACTC -3'
(R):5'- TCCTGCACAGTAGGGATGTG -3'

Sequencing Primer
(F):5'- TCCCTAAACAAAACCAGTATGTTGTC -3'
(R):5'- CTGCACAGTAGGGATGTGAGGAG -3'

Posted On

2019-12-20