Mutagenetix > Incidental Mutation

Incidental Mutation 'R6338:Suclg1'

514321

Institutional Source

Beutler Lab

Gene Symbol

Suclg1

Ensembl Gene

ENSMUSG00000052738

Gene Name

succinate-CoA ligase, GDP-forming, alpha subunit

Synonyms

Sucla1, 1500000I01Rik

MMRRC Submission

044492-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73225488-73253890 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73241229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 183 (I183T)

Ref Sequence

ENSEMBL: ENSMUSP00000065113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064740] [ENSMUST00000123159] [ENSMUST00000203632]

AlphaFold

Q9WUM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000064740
AA Change: I183T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065113
Gene: ENSMUSG00000052738
AA Change: I183T

Domain	Start	End	E-Value	Type
low complexity region	1	29	N/A	INTRINSIC
CoA_binding	51	147	6.28e-35	SMART
Pfam:Succ_CoA_lig	193	336	6.7e-11	PFAM
Pfam:Ligase_CoA	199	324	9.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173409

Predicted Effect

probably benign
Transcript: ENSMUST00000203632

SMART Domains

Protein: ENSMUSP00000145246
Gene: ENSMUSG00000052738

Domain	Start	End	E-Value	Type
low complexity region	1	28	N/A	INTRINSIC
PDB:1EUD\|A	37	67	2e-12	PDB
SCOP:d1euca1	41	68	6e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of the heterodimeric enzyme succinate coenzyme A ligase. This enzyme is targeted to the mitochondria and catalyzes the conversion of succinyl CoA and ADP or GDP to succinate and ATP or GTP. Mutations in this gene are the cause of the metabolic disorder fatal infantile lactic acidosis and mitochondrial DNA depletion. [provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 97,906,922 (GRCm39)	Y128C	probably damaging	Het
Adam30	T	G	3: 98,068,857 (GRCm39)	I102S	probably damaging	Het
Adcy8	A	T	15: 64,792,466 (GRCm39)	D163E	possibly damaging	Het
Agrn	C	T	4: 156,255,042 (GRCm39)	E1614K	probably benign	Het
Aldh16a1	A	T	7: 44,791,385 (GRCm39)	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,687,490 (GRCm39)	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,664,070 (GRCm39)	S738G	probably benign	Het
Arid5b	C	A	10: 67,934,391 (GRCm39)	G504*	probably null	Het
Carmil3	T	C	14: 55,737,306 (GRCm39)	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,899,154 (GRCm39)	D186V	probably damaging	Het
Cdh23	T	C	10: 60,248,930 (GRCm39)	D882G	probably damaging	Het
Cdh4	T	C	2: 179,532,605 (GRCm39)	V689A	probably damaging	Het
Cntn6	T	A	6: 104,703,100 (GRCm39)	V174E	probably damaging	Het
Col7a1	C	T	9: 108,785,701 (GRCm39)	T390M	unknown	Het
Crybg1	T	C	10: 43,868,505 (GRCm39)	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,982,492 (GRCm39)	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,244,896 (GRCm39)	E55G	probably damaging	Het
Efcab3	C	T	11: 104,734,034 (GRCm39)	R2027*	probably null	Het
Fam13a	A	G	6: 58,930,484 (GRCm39)	V476A	probably damaging	Het
Fem1b	A	T	9: 62,704,293 (GRCm39)	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489 (GRCm39)	V466I	probably benign	Het
Gm20671	A	T	5: 32,977,991 (GRCm39)	D1794E	probably damaging	Het
Gpatch2	G	T	1: 186,957,711 (GRCm39)	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,465,880 (GRCm39)	T450A	probably benign	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Krit1	T	G	5: 3,886,857 (GRCm39)	M702R	probably benign	Het
Krt34	T	C	11: 99,929,316 (GRCm39)	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,612,376 (GRCm39)	N376K	possibly damaging	Het
Myo15a	A	G	11: 60,368,959 (GRCm39)	E573G	probably damaging	Het
Or11j4	T	A	14: 50,630,857 (GRCm39)	F215I	possibly damaging	Het
Or1af1	A	T	2: 37,109,834 (GRCm39)	D111V	probably damaging	Het
Or1e31	A	T	11: 73,690,145 (GRCm39)	L146Q	possibly damaging	Het
Or2y17	A	G	11: 49,231,694 (GRCm39)	S112G	probably benign	Het
Or4c119	T	A	2: 88,986,715 (GRCm39)	K268I	probably damaging	Het
Or56b2	T	A	7: 104,337,378 (GRCm39)	V52E	possibly damaging	Het
Phf20	A	T	2: 156,115,606 (GRCm39)	Q309L	possibly damaging	Het
Plcd1	G	A	9: 118,904,059 (GRCm39)	R292C	probably damaging	Het
Pold3	A	G	7: 99,737,312 (GRCm39)	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,630,505 (GRCm39)		probably null	Het
Ptprcap	A	G	19: 4,206,223 (GRCm39)	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,318,360 (GRCm39)	E843G	possibly damaging	Het
Rai14	T	C	15: 10,575,062 (GRCm39)	D632G	probably damaging	Het
Rnf149	A	T	1: 39,599,823 (GRCm39)	C268S	probably null	Het
Slc6a13	T	A	6: 121,311,798 (GRCm39)	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,338,492 (GRCm39)		probably null	Het
Slf1	T	A	13: 77,232,581 (GRCm39)		probably null	Het
Stard9	G	A	2: 120,527,966 (GRCm39)	V1408I	probably benign	Het
Syne1	T	C	10: 5,205,475 (GRCm39)	E3497G	probably benign	Het
Tax1bp1	C	T	6: 52,706,361 (GRCm39)	R121*	probably null	Het
Tdpoz2	C	T	3: 93,559,643 (GRCm39)	V110I	probably benign	Het
Ubn2	A	G	6: 38,467,649 (GRCm39)	T788A	probably benign	Het
Unc13c	T	A	9: 73,641,729 (GRCm39)	I1255F	probably damaging	Het
Usp44	G	T	10: 93,682,375 (GRCm39)	R275I	probably damaging	Het
Uspl1	A	G	5: 149,151,844 (GRCm39)	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,183,246 (GRCm39)	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,724,849 (GRCm39)	D170E	possibly damaging	Het

Other mutations in Suclg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01864:Suclg1	APN	6	73,241,280 (GRCm39)	intron	probably benign
IGL02657:Suclg1	APN	6	73,237,504 (GRCm39)	missense	probably damaging	1.00
IGL03250:Suclg1	APN	6	73,247,975 (GRCm39)	missense	probably benign	0.04
IGL03306:Suclg1	APN	6	73,247,975 (GRCm39)	missense	probably benign	0.04
R0012:Suclg1	UTSW	6	73,247,980 (GRCm39)	missense	possibly damaging	0.66
R0012:Suclg1	UTSW	6	73,247,980 (GRCm39)	missense	possibly damaging	0.66
R0038:Suclg1	UTSW	6	73,237,486 (GRCm39)	missense	probably benign	0.26
R0038:Suclg1	UTSW	6	73,237,486 (GRCm39)	missense	probably benign	0.26
R0379:Suclg1	UTSW	6	73,233,211 (GRCm39)	missense	possibly damaging	0.89
R0969:Suclg1	UTSW	6	73,248,099 (GRCm39)	missense	probably benign	0.33
R1123:Suclg1	UTSW	6	73,233,210 (GRCm39)	missense	probably benign	0.02
R2089:Suclg1	UTSW	6	73,241,259 (GRCm39)	missense	probably benign	0.00
R2091:Suclg1	UTSW	6	73,241,259 (GRCm39)	missense	probably benign	0.00
R2091:Suclg1	UTSW	6	73,241,259 (GRCm39)	missense	probably benign	0.00
R5083:Suclg1	UTSW	6	73,240,963 (GRCm39)	missense	probably benign
R6176:Suclg1	UTSW	6	73,252,326 (GRCm39)	missense	probably damaging	1.00
R6313:Suclg1	UTSW	6	73,233,192 (GRCm39)	missense	probably damaging	0.97
R7231:Suclg1	UTSW	6	73,240,954 (GRCm39)	missense	probably benign	0.00
R7246:Suclg1	UTSW	6	73,253,696 (GRCm39)	missense	unknown
R7250:Suclg1	UTSW	6	73,248,074 (GRCm39)	missense	probably benign	0.00
R7524:Suclg1	UTSW	6	73,240,824 (GRCm39)	missense	probably damaging	0.99
R7829:Suclg1	UTSW	6	73,252,226 (GRCm39)	splice site	probably null
R8166:Suclg1	UTSW	6	73,237,555 (GRCm39)	missense	probably damaging	1.00
R8721:Suclg1	UTSW	6	73,246,362 (GRCm39)	missense	probably damaging	1.00
R8735:Suclg1	UTSW	6	73,253,729 (GRCm39)	missense	unknown
R8799:Suclg1	UTSW	6	73,248,091 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTCAAGCACAGACTGACACG -3'
(R):5'- AAGTGATTCTCAAAGAGGCCC -3'

Sequencing Primer
(F):5'- GCTAATCGGGCCAAACTGC -3'
(R):5'- CTCAAAGAGGCCCATCATATTTGAG -3'

Posted On

2018-04-27