Mutagenetix > Incidental Mutations

Incidental Mutation 'R4713:Dlat'

353379

Institutional Source

Beutler Lab

Gene Symbol

Dlat

Ensembl Gene

ENSMUSG00000000168

Gene Name

dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)

Synonyms

PDC-E2, 6332404G05Rik

MMRRC Submission

041601-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4713 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50634633-50659780 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 50644481 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 412 (A412E)

Ref Sequence

ENSEMBL: ENSMUSP00000034567 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034567]

Predicted Effect

probably benign
Transcript: ENSMUST00000034567
AA Change: A412E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034567
Gene: ENSMUSG00000000168
AA Change: A412E

Domain	Start	End	E-Value	Type
Pfam:Biotin_lipoyl	91	164	4.3e-17	PFAM
low complexity region	183	210	N/A	INTRINSIC
Pfam:Biotin_lipoyl	218	292	1.2e-17	PFAM
low complexity region	315	344	N/A	INTRINSIC
Pfam:E3_binding	350	385	2.6e-18	PFAM
Pfam:2-oxoacid_dh	412	642	9.9e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126933

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132455

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155417

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,547,532	T360K	probably damaging	Het
AW551984	T	C	9: 39,597,153	K356E	probably benign	Het
Bpifb2	T	A	2: 153,881,193	V123E	probably damaging	Het
Cacna1a	T	G	8: 84,549,514	F532V	probably damaging	Het
Cct8	C	A	16: 87,487,688	E204*	probably null	Het
Cd163	T	A	6: 124,317,618		probably null	Het
Cep152	C	A	2: 125,587,948	A685S	possibly damaging	Het
Chdh	A	G	14: 30,036,841	D581G	probably benign	Het
Cnpy3	A	C	17: 46,747,465	Y77*	probably null	Het
Col5a3	T	C	9: 20,793,574	E762G	unknown	Het
Creb3	A	G	4: 43,563,247	T115A	probably benign	Het
Dnah2	T	C	11: 69,476,688	N1789S	probably damaging	Het
Dzank1	C	T	2: 144,491,804	E370K	probably benign	Het
Eif3m	A	T	2: 105,006,839		probably null	Het
Gimap8	A	T	6: 48,658,986	M562L	probably benign	Het
Gm15448	G	T	7: 3,822,681	Y396*	probably null	Het
Gprc6a	T	A	10: 51,631,457		probably benign	Het
Gsr	T	G	8: 33,680,319		probably null	Het
Gstcd	A	G	3: 132,983,099	V630A	probably damaging	Het
Hip1r	T	C	5: 123,989,980	I116T	probably benign	Het
Hivep3	A	G	4: 120,131,803	E1817G	probably damaging	Het
Inpp5f	A	C	7: 128,663,725	T135P	probably damaging	Het
Ism2	A	G	12: 87,285,027		silent	Het
Itga11	A	G	9: 62,765,788	D784G	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Itpr2	T	C	6: 146,396,958	E10G	probably damaging	Het
Knl1	A	T	2: 119,069,137	K440*	probably null	Het
Lonp2	T	C	8: 86,713,315	S648P	probably damaging	Het
Lrba	T	C	3: 86,359,868	S1622P	probably benign	Het
Lrp2	G	T	2: 69,487,966	A2047D	probably damaging	Het
Mcm3	G	A	1: 20,803,577	T773I	probably benign	Het
Mfsd7a	T	C	5: 108,442,079	T486A	probably damaging	Het
Mki67	A	G	7: 135,695,469	V2612A	probably benign	Het
Mnx1	C	A	5: 29,478,131	G49W	probably damaging	Het
Muc5b	T	A	7: 141,849,079	Y673*	probably null	Het
Myo15	A	G	11: 60,479,930	H1172R	probably benign	Het
Myo1g	T	C	11: 6,516,080	K363R	probably null	Het
Ncoa4	T	A	14: 32,176,641	C473S	probably benign	Het
Nefh	T	C	11: 4,939,656	T988A	unknown	Het
Nwd2	T	A	5: 63,804,460	D462E	probably benign	Het
Olfr332	T	C	11: 58,490,087	T223A	probably benign	Het
Plec	T	C	15: 76,181,067	E1466G	unknown	Het
Prl3d2	G	T	13: 27,122,396	M35I	probably benign	Het
Reln	T	A	5: 22,152,463	I202F	probably benign	Het
Rhot1	T	A	11: 80,225,602	D78E	probably benign	Het
Rsph3b	T	C	17: 6,905,129		probably null	Het
Scn10a	C	T	9: 119,609,651	M1717I	probably damaging	Het
Sema6a	T	A	18: 47,249,296	H728L	possibly damaging	Het
Slc26a3	G	T	12: 31,457,080	A345S	possibly damaging	Het
Slc35d2	A	G	13: 64,099,283	V261A	possibly damaging	Het
Ssmem1	A	G	6: 30,519,514	D66G	probably damaging	Het
Sult2a8	A	T	7: 14,425,477	N72K	probably benign	Het
Tbx10	T	C	19: 3,996,921	L108P	probably damaging	Het
Tex14	T	C	11: 87,536,865	S48P	probably damaging	Het
Tmie	A	G	9: 110,867,528	L95P	probably damaging	Het
Tom1l2	C	G	11: 60,270,433	R84P	probably damaging	Het
Trpm3	T	A	19: 22,889,435	D543E	possibly damaging	Het
Vipr2	A	C	12: 116,080,131	R49S	probably benign	Het
Vps8	A	T	16: 21,442,439	S110C	probably damaging	Het
Zfp791	T	A	8: 85,110,968	N89I	probably damaging	Het

Other mutations in Dlat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Dlat	APN	9	50645032	splice site	probably benign
IGL00870:Dlat	APN	9	50650869	missense	probably damaging	1.00
R0440:Dlat	UTSW	9	50645119	splice site	probably null
R0530:Dlat	UTSW	9	50637569	missense	probably damaging	1.00
R0745:Dlat	UTSW	9	50653708	missense	probably damaging	0.99
R1870:Dlat	UTSW	9	50637574	missense	probably damaging	0.99
R3237:Dlat	UTSW	9	50638031	missense	possibly damaging	0.81
R3696:Dlat	UTSW	9	50650876	missense	possibly damaging	0.63
R3715:Dlat	UTSW	9	50638054	missense	probably damaging	1.00
R3924:Dlat	UTSW	9	50658190	missense	possibly damaging	0.55
R4016:Dlat	UTSW	9	50649631	critical splice donor site	probably null
R4197:Dlat	UTSW	9	50636526	missense	probably damaging	1.00
R4789:Dlat	UTSW	9	50659370	missense	probably benign
R5893:Dlat	UTSW	9	50644139	splice site	probably benign
R6138:Dlat	UTSW	9	50645117	splice site	probably null
R6778:Dlat	UTSW	9	50650857	missense	probably damaging	1.00
R7010:Dlat	UTSW	9	50657974	missense	probably damaging	1.00
R8065:Dlat	UTSW	9	50657849	missense	possibly damaging	0.67
R8677:Dlat	UTSW	9	50658707	missense	probably damaging	0.99
R8724:Dlat	UTSW	9	50649667	missense	probably damaging	1.00
R8725:Dlat	UTSW	9	50649667	missense	probably damaging	1.00
R8742:Dlat	UTSW	9	50649667	missense	probably damaging	1.00
R8745:Dlat	UTSW	9	50649667	missense	probably damaging	1.00
R8753:Dlat	UTSW	9	50649667	missense	probably damaging	1.00
R8754:Dlat	UTSW	9	50649667	missense	probably damaging	1.00
U15987:Dlat	UTSW	9	50645117	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTAGACTGGCCAAAGCAG -3'
(R):5'- CTGTGGAGATTGAACCAGCTAC -3'

Sequencing Primer
(F):5'- GGCCAAAGCAGAGGTTTCTTTACC -3'
(R):5'- GTGGAGATTGAACCAGCTACTCCTC -3'

Posted On

2015-10-21