Mutagenetix > Incidental Mutation

Incidental Mutation 'R2566:Sucla2'

254502

Institutional Source

Beutler Lab

Gene Symbol

Sucla2

Ensembl Gene

ENSMUSG00000022110

Gene Name

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

Synonyms

4930547K18Rik

MMRRC Submission

040425-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R2566 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

73790226-73833584 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 73790244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022706] [ENSMUST00000043813] [ENSMUST00000160507] [ENSMUST00000162691]

AlphaFold

Q9Z2I9

Predicted Effect

probably benign
Transcript: ENSMUST00000022706

SMART Domains

Protein: ENSMUSP00000022706
Gene: ENSMUSG00000022110

Domain	Start	End	E-Value	Type
Pfam:ATP-grasp_5	44	277	1.6e-11	PFAM
Pfam:ATP-grasp_2	54	262	9.2e-78	PFAM
Pfam:Ligase_CoA	321	441	2.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043813

SMART Domains

Protein: ENSMUSP00000039537
Gene: ENSMUSG00000033405

Domain	Start	End	E-Value	Type
Pfam:NUDIX	11	142	1.5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160507

SMART Domains

Protein: ENSMUSP00000123765
Gene: ENSMUSG00000022110

Domain	Start	End	E-Value	Type
Pfam:ATP-grasp_5	44	277	3e-11	PFAM
Pfam:ATP-grasp_2	54	262	9.5e-77	PFAM
Pfam:Ligase_CoA	321	441	2.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162723

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit perinatal lethality with reduced size, placenta mineralization, decreased mitochondrial DNA and respiration. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, other(2) Gene trapped(5)

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,055,701 (GRCm39)	K408E	probably damaging	Het
2010315B03Rik	T	A	9: 124,055,783 (GRCm39)	K380N	probably damaging	Het
9230104M06Rik	C	T	12: 112,964,359 (GRCm39)		probably benign	Het
Ahi1	T	A	10: 20,846,810 (GRCm39)	C413*	probably null	Het
Alms1	T	A	6: 85,599,464 (GRCm39)	M1430K	possibly damaging	Het
Ankrd52	G	T	10: 128,225,220 (GRCm39)	A894S	probably benign	Het
Arhgap33	C	A	7: 30,226,654 (GRCm39)	V494L	probably damaging	Het
Atic	G	T	1: 71,608,130 (GRCm39)	V275F	probably damaging	Het
Atoh1	T	A	6: 64,706,668 (GRCm39)	V121E	probably damaging	Het
Atp5pd	T	A	11: 115,306,864 (GRCm39)		probably null	Het
Baiap2l2	A	T	15: 79,146,174 (GRCm39)		probably null	Het
Brca2	A	T	5: 150,465,227 (GRCm39)	T1664S	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,395,537 (GRCm39)		probably benign	Het
Cep350	A	T	1: 155,835,464 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,692,621 (GRCm39)		probably null	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cyp2d34	A	G	15: 82,500,368 (GRCm39)	F457S	probably damaging	Het
Disp3	T	A	4: 148,325,880 (GRCm39)	T1293S	probably damaging	Het
Dock10	T	A	1: 80,517,970 (GRCm39)	I1348F	possibly damaging	Het
Dsp	A	T	13: 38,380,380 (GRCm39)	H1776L	probably damaging	Het
Efhd1	A	T	1: 87,237,477 (GRCm39)	Q228L	possibly damaging	Het
Entpd2	T	A	2: 25,289,295 (GRCm39)	I259N	probably benign	Het
Fam149b	A	T	14: 20,425,578 (GRCm39)	M138L	probably damaging	Het
Fastkd5	T	C	2: 130,458,285 (GRCm39)	K102E	probably benign	Het
Fzd7	C	A	1: 59,523,695 (GRCm39)	T526K	possibly damaging	Het
G6pd2	T	A	5: 61,966,330 (GRCm39)	I35N	probably damaging	Het
Gars1	T	A	6: 55,042,548 (GRCm39)	M427K	probably damaging	Het
Gimap4	C	T	6: 48,667,799 (GRCm39)	R57C	probably damaging	Het
Gm11232	C	A	4: 71,676,022 (GRCm39)	W41L	probably benign	Het
Gm15737	T	A	6: 92,856,701 (GRCm39)	C43*	probably null	Het
Gpr180	T	C	14: 118,377,185 (GRCm39)	V62A	probably benign	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Jakmip3	A	T	7: 138,591,197 (GRCm39)	E27V	possibly damaging	Het
Kcnq3	T	C	15: 65,903,276 (GRCm39)	T145A	probably damaging	Het
Krt8	A	G	15: 101,906,459 (GRCm39)	M350T	probably benign	Het
Krtap4-9	T	A	11: 99,676,492 (GRCm39)		probably benign	Het
Lbr	G	T	1: 181,663,692 (GRCm39)	D109E	probably damaging	Het
Ldc1	A	T	4: 130,103,681 (GRCm39)	L420Q	probably benign	Het
Med23	A	G	10: 24,764,473 (GRCm39)	H42R	probably damaging	Het
Mgat5	A	T	1: 127,234,741 (GRCm39)	M77L	probably benign	Het
Mlf1	A	T	3: 67,291,919 (GRCm39)	N28I	possibly damaging	Het
Mroh3	A	C	1: 136,125,864 (GRCm39)	L343R	probably damaging	Het
Mrpl37	T	A	4: 106,921,690 (GRCm39)	I180F	possibly damaging	Het
Mrps27	T	A	13: 99,536,836 (GRCm39)	C116*	probably null	Het
Muc6	A	G	7: 141,226,651 (GRCm39)	S1354P	possibly damaging	Het
Myh7	A	T	14: 55,220,699 (GRCm39)	D1033E	probably damaging	Het
Myo16	A	T	8: 10,644,820 (GRCm39)	E1717D	probably benign	Het
Myo1g	T	A	11: 6,462,539 (GRCm39)		probably null	Het
Or51ag1	A	G	7: 103,155,367 (GRCm39)	M262T	probably benign	Het
Or6c217	A	C	10: 129,737,964 (GRCm39)	L205R	probably damaging	Het
Pan2	T	C	10: 128,149,766 (GRCm39)	L576P	probably damaging	Het
Parp8	A	G	13: 117,032,223 (GRCm39)	S278P	possibly damaging	Het
Pdk2	A	G	11: 94,918,028 (GRCm39)		probably null	Het
Phf1	T	C	17: 27,156,062 (GRCm39)	S450P	probably damaging	Het
Pkd1l2	T	C	8: 117,746,233 (GRCm39)	Y1919C	probably damaging	Het
Postn	T	A	3: 54,284,374 (GRCm39)	S614T	probably damaging	Het
Psmg1	A	T	16: 95,783,395 (GRCm39)	Y213*	probably null	Het
Rab11b	T	A	17: 33,966,692 (GRCm39)	T203S	probably benign	Het
Rad54l2	T	A	9: 106,580,825 (GRCm39)	T899S	possibly damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,137,371 (GRCm39)		probably benign	Het
Rapgef6	A	G	11: 54,578,537 (GRCm39)	T1028A	possibly damaging	Het
Rbm6	A	G	9: 107,669,197 (GRCm39)	S58P	possibly damaging	Het
Rreb1	G	T	13: 38,113,768 (GRCm39)	A376S	possibly damaging	Het
Rsbn1l	T	A	5: 21,124,767 (GRCm39)	N345I	probably benign	Het
Sf3b2	A	T	19: 5,325,118 (GRCm39)	S785T	possibly damaging	Het
Sh2b1	C	T	7: 126,068,098 (GRCm39)	D519N	probably damaging	Het
Slitrk6	T	C	14: 110,987,704 (GRCm39)	T668A	probably benign	Het
Stkld1	T	A	2: 26,840,650 (GRCm39)	I444N	probably damaging	Het
Tmem67	T	A	4: 12,079,918 (GRCm39)	L190F	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trem2	G	A	17: 48,658,863 (GRCm39)	W191*	probably null	Het
Ube2d4	A	T	15: 58,718,528 (GRCm39)		noncoding transcript	Het
Uimc1	G	T	13: 55,223,617 (GRCm39)	D218E	probably damaging	Het
Wdr62	A	T	7: 29,973,424 (GRCm39)	V95E	probably damaging	Het
Zfhx4	T	C	3: 5,310,203 (GRCm39)	V862A	probably damaging	Het
Zfp462	T	A	4: 55,008,522 (GRCm39)	S163T	probably benign	Het
Zfp704	T	C	3: 9,674,553 (GRCm39)	D76G	unknown	Het

Other mutations in Sucla2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Sucla2	APN	14	73,828,347 (GRCm39)	missense	possibly damaging	0.81
IGL01539:Sucla2	APN	14	73,828,561 (GRCm39)	missense	probably damaging	0.97
IGL02064:Sucla2	APN	14	73,816,913 (GRCm39)	nonsense	probably null
IGL02240:Sucla2	APN	14	73,828,287 (GRCm39)	missense	probably damaging	1.00
IGL02640:Sucla2	APN	14	73,819,246 (GRCm39)	missense	probably benign	0.45
IGL02965:Sucla2	APN	14	73,816,871 (GRCm39)	missense	probably benign	0.00
3-1:Sucla2	UTSW	14	73,806,397 (GRCm39)	nonsense	probably null
PIT4812001:Sucla2	UTSW	14	73,816,889 (GRCm39)	missense	possibly damaging	0.89
R0189:Sucla2	UTSW	14	73,830,088 (GRCm39)	missense	probably damaging	1.00
R0764:Sucla2	UTSW	14	73,798,074 (GRCm39)	unclassified	probably benign
R0765:Sucla2	UTSW	14	73,798,074 (GRCm39)	unclassified	probably benign
R0844:Sucla2	UTSW	14	73,798,074 (GRCm39)	unclassified	probably benign
R1065:Sucla2	UTSW	14	73,798,074 (GRCm39)	unclassified	probably benign
R1067:Sucla2	UTSW	14	73,798,074 (GRCm39)	unclassified	probably benign
R1136:Sucla2	UTSW	14	73,798,074 (GRCm39)	unclassified	probably benign
R1162:Sucla2	UTSW	14	73,798,074 (GRCm39)	unclassified	probably benign
R1311:Sucla2	UTSW	14	73,798,074 (GRCm39)	unclassified	probably benign
R1312:Sucla2	UTSW	14	73,798,074 (GRCm39)	unclassified	probably benign
R1345:Sucla2	UTSW	14	73,798,074 (GRCm39)	unclassified	probably benign
R1416:Sucla2	UTSW	14	73,798,074 (GRCm39)	unclassified	probably benign
R1677:Sucla2	UTSW	14	73,830,121 (GRCm39)	missense	probably damaging	1.00
R1968:Sucla2	UTSW	14	73,831,119 (GRCm39)	missense	probably damaging	0.99
R2126:Sucla2	UTSW	14	73,830,108 (GRCm39)	missense	possibly damaging	0.71
R2484:Sucla2	UTSW	14	73,819,149 (GRCm39)	missense	probably benign	0.12
R3706:Sucla2	UTSW	14	73,828,492 (GRCm39)	missense	probably damaging	1.00
R4725:Sucla2	UTSW	14	73,806,429 (GRCm39)	missense	possibly damaging	0.94
R5620:Sucla2	UTSW	14	73,832,836 (GRCm39)	missense	probably damaging	0.99
R5650:Sucla2	UTSW	14	73,828,569 (GRCm39)	missense	probably benign	0.38
R5947:Sucla2	UTSW	14	73,830,109 (GRCm39)	missense	probably damaging	1.00
R6045:Sucla2	UTSW	14	73,806,404 (GRCm39)	nonsense	probably null
R6236:Sucla2	UTSW	14	73,831,190 (GRCm39)	missense	probably benign	0.39
R6693:Sucla2	UTSW	14	73,806,107 (GRCm39)	nonsense	probably null
R7706:Sucla2	UTSW	14	73,806,433 (GRCm39)	missense	probably damaging	1.00
R8786:Sucla2	UTSW	14	73,797,905 (GRCm39)	missense	probably benign	0.13
R9055:Sucla2	UTSW	14	73,819,068 (GRCm39)	intron	probably benign
R9064:Sucla2	UTSW	14	73,828,303 (GRCm39)	missense	probably benign
R9380:Sucla2	UTSW	14	73,828,312 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTCTGAAGGCCAAAGTTTGC -3'
(R):5'- AAAGTACACTTGAAGGGCATCC -3'

Sequencing Primer
(F):5'- GCTTTGTGCCTGCCAAAC -3'
(R):5'- TCTGTGCAGAGCAGGGCATC -3'

Posted On

2014-12-04