Mutagenetix > Incidental Mutation

Incidental Mutation 'R6176:Suclg1'

487759

Institutional Source

Beutler Lab

Gene Symbol

Suclg1

Ensembl Gene

ENSMUSG00000052738

Gene Name

succinate-CoA ligase, GDP-forming, alpha subunit

Synonyms

Sucla1, 1500000I01Rik

MMRRC Submission

044318-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73225488-73253890 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73252326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 323 (V323A)

Ref Sequence

ENSEMBL: ENSMUSP00000065113 (fasta)

Gene Model

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

AlphaFold

Q9WUM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000064740
AA Change: V323A

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

SMART Domains

Protein: ENSMUSP00000065113
Gene: ENSMUSG00000052738
AA Change: V323A

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: ENSMUST00000203632
AA Change: W89R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000145246
Gene: ENSMUSG00000052738
AA Change: W89R

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (60/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	C	4: 63,295,969 (GRCm39)	Q966R	probably benign	Het
Amn	A	G	12: 111,240,590 (GRCm39)	D74G	possibly damaging	Het
Ank2	T	A	3: 126,739,120 (GRCm39)	T2255S	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Apaf1	A	G	10: 90,895,433 (GRCm39)		probably null	Het
Asl	T	A	5: 130,047,720 (GRCm39)	H82L	probably benign	Het
Atrn	A	G	2: 130,788,011 (GRCm39)	E271G	probably benign	Het
B4galnt3	A	G	6: 120,201,125 (GRCm39)	F184S	probably damaging	Het
C1s2	T	A	6: 124,602,768 (GRCm39)	H481L	probably damaging	Het
Cav2	A	G	6: 17,286,918 (GRCm39)	D58G	possibly damaging	Het
Cc2d2a	A	T	5: 43,866,455 (GRCm39)	H755L	probably benign	Het
Ccdc65	A	G	15: 98,606,433 (GRCm39)		probably null	Het
Celsr3	A	T	9: 108,705,554 (GRCm39)	Y679F	probably damaging	Het
Cep135	A	T	5: 76,772,490 (GRCm39)	Y625F	probably benign	Het
Cfhr1	A	G	1: 139,478,654 (GRCm39)	S58P	probably damaging	Het
Clip4	T	A	17: 72,113,628 (GRCm39)	C259*	probably null	Het
Cyp2j12	T	A	4: 96,029,074 (GRCm39)	Q69L	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Ecscr	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	18: 35,849,813 (GRCm39)		probably benign	Het
Efcab3	A	T	11: 104,683,383 (GRCm39)	I1604F	probably benign	Het
Fam43b	T	C	4: 138,122,522 (GRCm39)	D266G	probably damaging	Het
Fbxl13	T	A	5: 21,705,498 (GRCm39)	I618F	possibly damaging	Het
Gne	C	T	4: 44,053,019 (GRCm39)		probably benign	Het
Gnpat	T	A	8: 125,605,593 (GRCm39)	V321E	probably damaging	Het
Gpatch8	G	A	11: 102,378,350 (GRCm39)	A200V	unknown	Het
Grid1	C	A	14: 35,284,504 (GRCm39)	A749E	probably benign	Het
Grip2	C	T	6: 91,756,832 (GRCm39)	V540I	probably benign	Het
Ice2	C	T	9: 69,324,354 (GRCm39)	T759M	probably damaging	Het
Jrk	G	T	15: 74,578,189 (GRCm39)	N365K	possibly damaging	Het
Kank4	A	G	4: 98,653,791 (GRCm39)	I879T	probably damaging	Het
Krtap20-1	T	A	16: 88,812,288 (GRCm39)	Y24*	probably null	Het
Lao1	T	A	4: 118,819,197 (GRCm39)	M1K	probably null	Het
Mlf1	A	G	3: 67,291,927 (GRCm39)	R31G	probably damaging	Het
Nt5c3b	T	C	11: 100,330,974 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,460,902 (GRCm39)	R132G	probably benign	Het
Or11g1	A	G	14: 50,651,847 (GRCm39)	Y282C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5w20	G	A	2: 87,727,280 (GRCm39)	V254I	probably benign	Het
Or8d2b	A	C	9: 38,788,673 (GRCm39)	D67A	probably damaging	Het
Paqr9	G	T	9: 95,442,828 (GRCm39)	V273L	possibly damaging	Het
Pcdha9	A	T	18: 37,131,984 (GRCm39)	D351V	probably benign	Het
Pcdhga1	A	G	18: 37,797,282 (GRCm39)	D762G	probably benign	Het
Pde3a	T	A	6: 141,444,615 (GRCm39)	L1141Q	possibly damaging	Het
Pga5	T	A	19: 10,649,149 (GRCm39)		probably null	Het
Phldb3	C	A	7: 24,326,127 (GRCm39)	R570S	probably damaging	Het
Slc22a6	A	C	19: 8,599,161 (GRCm39)	E264A	probably damaging	Het
Slc49a4	C	T	16: 35,525,167 (GRCm39)	M426I	probably benign	Het
Slit1	T	C	19: 41,626,034 (GRCm39)	K576R	probably damaging	Het
Sox21	T	C	14: 118,473,040 (GRCm39)	K3R	possibly damaging	Het
Stk32c	A	T	7: 138,700,691 (GRCm39)	D297E	probably benign	Het
Tas1r2	T	G	4: 139,396,199 (GRCm39)	C513G	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tbc1d31	T	C	15: 57,816,192 (GRCm39)	V642A	probably damaging	Het
Tle2	A	T	10: 81,423,168 (GRCm39)	D486V	probably damaging	Het
Tmem232	A	G	17: 65,792,867 (GRCm39)	I110T	probably damaging	Het
Tmem39b	A	G	4: 129,586,894 (GRCm39)	Y106H	probably damaging	Het
Trpm4	T	G	7: 44,976,100 (GRCm39)	N229T	probably damaging	Het
Tspo	A	G	15: 83,458,007 (GRCm39)	T120A	probably benign	Het
Ttc28	G	A	5: 111,371,851 (GRCm39)	A767T	probably damaging	Het
Usp53	G	A	3: 122,727,652 (GRCm39)	Q977*	probably null	Het
Vmn1r215	T	A	13: 23,260,528 (GRCm39)	D189E	probably damaging	Het
Vmn2r12	T	C	5: 109,233,866 (GRCm39)	Y782C	probably benign	Het
Vmn2r54	A	G	7: 12,349,908 (GRCm39)	L558P	probably damaging	Het
Zfp268	T	A	4: 145,350,628 (GRCm39)	C688*	probably null	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
R6313:Suclg1	UTSW	6	73,233,192 (GRCm39)	missense	probably damaging	0.97
R6338:Suclg1	UTSW	6	73,241,229 (GRCm39)	missense	probably damaging	1.00
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'- CCATTCACTGCTTGCCAACG -3'
(R):5'- TGCTTTGCACACCTTGTCAATG -3'

Sequencing Primer
(F):5'- AACGTCACAGCTTTGAGGTC -3'
(R):5'- GACAAAGGGCAAATGTCTCTCTTC -3'

Posted On

2017-10-10