Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03268:Suclg2'

415151

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Suclg2

Ensembl Gene

ENSMUSG00000061838

Gene Name

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

Synonyms

D6Wsu120e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03268

Quality Score

Status

Chromosome

Chromosomal Location

95449990-95695781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95546573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 301 (D301G)

Ref Sequence

ENSEMBL: ENSMUSP00000144827 (fasta)

Gene Model

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

AlphaFold

Q9Z2I8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079847
AA Change: D252G

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078774
Gene: ENSMUSG00000061838
AA Change: D252G

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

noncoding transcript
Transcript: ENSMUST00000203071

Predicted Effect

probably damaging
Transcript: ENSMUST00000204224
AA Change: D301G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144827
Gene: ENSMUSG00000061838
AA Change: D301G

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	G	T	4: 155,818,648 (GRCm39)		probably benign	Het
Acvrl1	A	T	15: 101,033,803 (GRCm39)	I162F	possibly damaging	Het
Adprhl1	A	G	8: 13,296,170 (GRCm39)		probably benign	Het
Anapc7	G	A	5: 122,567,669 (GRCm39)		probably null	Het
Ankrd13a	T	C	5: 114,930,296 (GRCm39)	L227P	probably damaging	Het
Anxa5	T	C	3: 36,504,828 (GRCm39)	I245V	probably benign	Het
Arf1	A	T	11: 59,103,663 (GRCm39)	V123E	possibly damaging	Het
Catsperg1	G	A	7: 28,899,668 (GRCm39)	R338C	probably damaging	Het
Cc2d1a	A	C	8: 84,860,154 (GRCm39)	L855R	probably damaging	Het
Cdh18	G	A	15: 23,366,953 (GRCm39)	A220T	probably damaging	Het
Cep350	T	C	1: 155,829,295 (GRCm39)	H203R	probably benign	Het
Cep78	G	T	19: 15,951,806 (GRCm39)	S333*	probably null	Het
Chrna2	T	A	14: 66,388,395 (GRCm39)		probably benign	Het
Dact1	T	C	12: 71,364,257 (GRCm39)	V346A	probably damaging	Het
Dcn	A	G	10: 97,319,240 (GRCm39)	I6V	probably benign	Het
Dlg3	A	G	X: 99,853,493 (GRCm39)	Y600C	probably damaging	Het
Dmd	A	G	X: 82,849,814 (GRCm39)	E1084G	probably damaging	Het
Epb41	A	C	4: 131,655,806 (GRCm39)	D825E	probably damaging	Het
Galc	T	A	12: 98,188,852 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,648,261 (GRCm39)	D675V	probably damaging	Het
Igkv2-137	A	G	6: 67,533,092 (GRCm39)	D85G	probably benign	Het
Kxd1	A	G	8: 70,961,136 (GRCm39)	I78T	probably damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lama2	A	T	10: 27,298,649 (GRCm39)	I149N	probably damaging	Het
Mbnl2	G	T	14: 120,616,569 (GRCm39)	C61F	probably damaging	Het
Mcts1	T	C	X: 37,690,859 (GRCm39)	I22T	possibly damaging	Het
Or4k15b	T	C	14: 50,272,024 (GRCm39)	T279A	probably damaging	Het
Or52e3	T	G	7: 102,869,848 (GRCm39)	F308V	probably benign	Het
Pde12	T	A	14: 26,389,614 (GRCm39)	E365V	probably benign	Het
Prl8a2	A	G	13: 27,537,938 (GRCm39)	K204R	probably benign	Het
Rnf25	A	T	1: 74,638,217 (GRCm39)		probably benign	Het
Rragb	A	G	X: 151,923,493 (GRCm39)	D5G	unknown	Het
Rsrc2	T	A	5: 123,878,790 (GRCm39)	K56*	probably null	Het
Scn5a	T	C	9: 119,350,297 (GRCm39)	Q859R	probably damaging	Het
Septin4	G	A	11: 87,480,529 (GRCm39)	V388M	probably damaging	Het
Slc29a2	C	T	19: 5,074,531 (GRCm39)		probably benign	Het
Slc30a5	G	A	13: 100,943,211 (GRCm39)	T549I	probably damaging	Het
Slc7a2	A	G	8: 41,365,554 (GRCm39)	T462A	probably benign	Het
Spsb2	A	G	6: 124,786,450 (GRCm39)	E61G	probably damaging	Het
Srr	A	G	11: 74,803,943 (GRCm39)	Y5H	probably benign	Het
Syt14	A	G	1: 192,669,142 (GRCm39)	V37A	probably benign	Het
Syt9	A	G	7: 107,035,612 (GRCm39)	N210D	probably benign	Het
Tenm3	T	C	8: 48,688,558 (GRCm39)	D2343G	probably damaging	Het
Tma7	A	G	9: 108,907,450 (GRCm39)		probably benign	Het
Tor3a	T	C	1: 156,497,020 (GRCm39)	D175G	probably damaging	Het
Tpo	G	T	12: 30,144,964 (GRCm39)	A595D	possibly damaging	Het
Tpst2	T	C	5: 112,456,091 (GRCm39)	V210A	probably damaging	Het
Uchl1	A	T	5: 66,839,824 (GRCm39)	E122V	probably benign	Het
Vmn1r210	A	T	13: 23,011,405 (GRCm39)	F294I	probably benign	Het

Other mutations in Suclg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01892:Suclg2	APN	6	95,556,169 (GRCm39)	missense	probably damaging	1.00
IGL01904:Suclg2	APN	6	95,565,915 (GRCm39)	splice site	probably benign
IGL02245:Suclg2	APN	6	95,572,722 (GRCm39)	missense	possibly damaging	0.54
PIT4576001:Suclg2	UTSW	6	95,563,999 (GRCm39)	missense	possibly damaging	0.95
R0173:Suclg2	UTSW	6	95,452,154 (GRCm39)	splice site	probably benign
R1241:Suclg2	UTSW	6	95,474,563 (GRCm39)	splice site	probably benign
R1654:Suclg2	UTSW	6	95,632,532 (GRCm39)	missense	probably damaging	1.00
R1712:Suclg2	UTSW	6	95,563,997 (GRCm39)	missense	probably damaging	1.00
R1929:Suclg2	UTSW	6	95,566,075 (GRCm39)	splice site	probably benign
R3735:Suclg2	UTSW	6	95,474,677 (GRCm39)	missense	probably damaging	1.00
R3736:Suclg2	UTSW	6	95,474,677 (GRCm39)	missense	probably damaging	1.00
R3801:Suclg2	UTSW	6	95,474,649 (GRCm39)	missense	probably damaging	0.98
R3803:Suclg2	UTSW	6	95,474,649 (GRCm39)	missense	probably damaging	0.98
R3804:Suclg2	UTSW	6	95,474,649 (GRCm39)	missense	probably damaging	0.98
R3947:Suclg2	UTSW	6	95,556,219 (GRCm39)	splice site	probably null
R4768:Suclg2	UTSW	6	95,543,469 (GRCm39)	missense	probably damaging	0.99
R4953:Suclg2	UTSW	6	95,543,417 (GRCm39)	missense	probably damaging	1.00
R6140:Suclg2	UTSW	6	95,546,702 (GRCm39)	missense	probably damaging	1.00
R7105:Suclg2	UTSW	6	95,572,635 (GRCm39)	missense	possibly damaging	0.92
R7335:Suclg2	UTSW	6	95,543,444 (GRCm39)	missense	probably damaging	1.00
R7335:Suclg2	UTSW	6	95,543,441 (GRCm39)	missense	probably damaging	1.00
R7861:Suclg2	UTSW	6	95,571,703 (GRCm39)	missense	probably benign	0.00
R8220:Suclg2	UTSW	6	95,565,927 (GRCm39)	missense	possibly damaging	0.92
R8283:Suclg2	UTSW	6	95,474,700 (GRCm39)	critical splice acceptor site	probably null
R8726:Suclg2	UTSW	6	95,632,489 (GRCm39)	missense	probably damaging	1.00
R8840:Suclg2	UTSW	6	95,546,615 (GRCm39)	missense	probably damaging	1.00
R8854:Suclg2	UTSW	6	95,572,650 (GRCm39)	missense	probably damaging	1.00
R9444:Suclg2	UTSW	6	95,543,474 (GRCm39)	missense	probably damaging	1.00
R9500:Suclg2	UTSW	6	95,546,666 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02