Mutagenetix > Incidental Mutation

Incidental Mutation 'R5893:Dlat'

457307

Institutional Source

Beutler Lab

Gene Symbol

Dlat

Ensembl Gene

ENSMUSG00000000168

Gene Name

dihydrolipoamide S-acetyltransferase

Synonyms

6332404G05Rik, PDC-E2

MMRRC Submission

044094-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50545933-50571080 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 50555439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034567 (fasta)

Gene Model

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

AlphaFold

Q8BMF4

Predicted Effect

probably benign
Transcript: ENSMUST00000034567

SMART Domains

Protein: ENSMUSP00000034567
Gene: ENSMUSG00000000168

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

95% (73/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	C	T	4: 144,429,766 (GRCm39)	V408I	probably benign	Het
Ablim1	T	A	19: 57,204,285 (GRCm39)	R35S	probably benign	Het
Acacb	A	T	5: 114,367,912 (GRCm39)	I1637F	probably benign	Het
Adamts18	A	T	8: 114,499,709 (GRCm39)	C402S	probably damaging	Het
Adra2b	T	A	2: 127,206,402 (GRCm39)	D306E	probably benign	Het
Ammecr1l	C	T	18: 31,911,973 (GRCm39)	T263I	probably damaging	Het
Antxr1	T	C	6: 87,114,241 (GRCm39)	I509V	probably benign	Het
Bahcc1	A	G	11: 120,176,256 (GRCm39)	E1967G	probably damaging	Het
Brap	T	A	5: 121,817,405 (GRCm39)	Y337*	probably null	Het
Brca2	T	C	5: 150,492,603 (GRCm39)	V3206A	probably benign	Het
Cacna1e	A	T	1: 154,313,069 (GRCm39)	F1486I	probably damaging	Het
Cbx4	A	G	11: 118,973,016 (GRCm39)	Y120H	probably damaging	Het
Ccar2	T	A	14: 70,388,800 (GRCm39)	Q137L	probably benign	Het
Ceacam12	A	G	7: 17,803,299 (GRCm39)	D235G	probably damaging	Het
Celsr1	A	G	15: 85,788,215 (GRCm39)	V2679A	probably benign	Het
Champ1	C	T	8: 13,928,777 (GRCm39)	P312S	probably benign	Het
Chst5	A	G	8: 112,616,828 (GRCm39)	L264S	probably damaging	Het
Cip2a	A	G	16: 48,817,863 (GRCm39)	S78G	probably benign	Het
Colec10	T	A	15: 54,274,185 (GRCm39)	F4L	probably benign	Het
Cyp2a4	G	A	7: 26,008,353 (GRCm39)	G165D	probably damaging	Het
Cyp2c29	G	C	19: 39,318,833 (GRCm39)	A438P	possibly damaging	Het
Dmxl2	A	G	9: 54,294,704 (GRCm39)	V2457A	possibly damaging	Het
Dnah7a	A	G	1: 53,496,944 (GRCm39)	M3104T	possibly damaging	Het
Dock8	C	T	19: 25,099,811 (GRCm39)	H645Y	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,459 (GRCm39)	E948G	probably benign	Het
Eps8l2	C	T	7: 140,937,537 (GRCm39)	R384C	probably damaging	Het
Fam174a	A	T	1: 95,252,884 (GRCm39)	N162I	probably damaging	Het
Fbp2	T	A	13: 62,984,916 (GRCm39)	N335I	probably benign	Het
Foxred2	C	A	15: 77,831,344 (GRCm39)	G490C	probably damaging	Het
Fyttd1	T	G	16: 32,719,283 (GRCm39)	D200E	probably damaging	Het
Gdf15	A	T	8: 71,082,473 (GRCm39)	V211E	possibly damaging	Het
Gm6214	A	G	3: 140,545,107 (GRCm39)		noncoding transcript	Het
Havcr2	A	G	11: 46,347,143 (GRCm39)	Y40C	probably damaging	Het
Htra1	T	G	7: 130,563,321 (GRCm39)	V184G	probably damaging	Het
Hydin	A	T	8: 111,217,308 (GRCm39)	I1399F	probably benign	Het
Igtp	T	C	11: 58,097,474 (GRCm39)	L215P	probably damaging	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Lap3	T	C	5: 45,668,621 (GRCm39)		probably benign	Het
Lgalsl2	A	T	7: 5,362,623 (GRCm39)	T85S	probably benign	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Mtnr1b	A	T	9: 15,774,540 (GRCm39)	V173E	probably damaging	Het
Nat10	A	C	2: 103,552,184 (GRCm39)		probably benign	Het
Ndfip2	T	A	14: 105,532,291 (GRCm39)	V229E	probably damaging	Het
Nefh	G	A	11: 4,891,323 (GRCm39)	T432M	probably damaging	Het
Nfe2l3	A	G	6: 51,434,832 (GRCm39)	Y464C	probably damaging	Het
Nrip1	C	A	16: 76,090,841 (GRCm39)	A239S	probably damaging	Het
Olfml2b	A	G	1: 170,490,042 (GRCm39)	S221G	probably benign	Het
Orc4	G	T	2: 48,795,559 (GRCm39)	S389*	probably null	Het
P4hb	A	G	11: 120,462,476 (GRCm39)	S77P	probably damaging	Het
Pcyt2	T	C	11: 120,508,623 (GRCm39)		probably null	Het
Plagl1	T	C	10: 13,003,938 (GRCm39)		probably benign	Het
Poglut1	C	T	16: 38,349,957 (GRCm39)	R272Q	probably damaging	Het
Pramel26	T	A	4: 143,537,038 (GRCm39)	Y431F	probably damaging	Het
Rdh5	T	C	10: 128,750,090 (GRCm39)		probably null	Het
Rogdi	A	T	16: 4,831,258 (GRCm39)	L3*	probably null	Het
Skap1	T	C	11: 96,472,224 (GRCm39)	*166Q	probably null	Het
Slc38a4	A	G	15: 96,897,432 (GRCm39)	I461T	probably benign	Het
Snx31	A	C	15: 36,523,601 (GRCm39)	I360M	probably damaging	Het
Spata22	A	T	11: 73,227,073 (GRCm39)	K96*	probably null	Het
Strn3	A	T	12: 51,690,006 (GRCm39)		probably null	Het
Trip12	A	C	1: 84,736,884 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,266,709 (GRCm39)		probably null	Het
Upk3a	A	C	15: 84,903,538 (GRCm39)	D79A	probably damaging	Het
Uts2r	A	T	11: 121,052,105 (GRCm39)	Y323F	probably benign	Het
Vmn2r1	A	T	3: 63,993,974 (GRCm39)	N107Y	probably damaging	Het
Vps13c	A	T	9: 67,810,121 (GRCm39)		probably null	Het
Wnt7b	A	G	15: 85,465,575 (GRCm39)		probably benign	Het
Zfp410	T	A	12: 84,384,385 (GRCm39)		probably null	Het

Other mutations in Dlat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Dlat	APN	9	50,556,332 (GRCm39)	splice site	probably benign
IGL00870:Dlat	APN	9	50,562,169 (GRCm39)	missense	probably damaging	1.00
R0440:Dlat	UTSW	9	50,556,419 (GRCm39)	splice site	probably null
R0530:Dlat	UTSW	9	50,548,869 (GRCm39)	missense	probably damaging	1.00
R0745:Dlat	UTSW	9	50,565,008 (GRCm39)	missense	probably damaging	0.99
R1870:Dlat	UTSW	9	50,548,874 (GRCm39)	missense	probably damaging	0.99
R3237:Dlat	UTSW	9	50,549,331 (GRCm39)	missense	possibly damaging	0.81
R3696:Dlat	UTSW	9	50,562,176 (GRCm39)	missense	possibly damaging	0.63
R3715:Dlat	UTSW	9	50,549,354 (GRCm39)	missense	probably damaging	1.00
R3924:Dlat	UTSW	9	50,569,490 (GRCm39)	missense	possibly damaging	0.55
R4016:Dlat	UTSW	9	50,560,931 (GRCm39)	critical splice donor site	probably null
R4197:Dlat	UTSW	9	50,547,826 (GRCm39)	missense	probably damaging	1.00
R4713:Dlat	UTSW	9	50,555,781 (GRCm39)	missense	probably benign
R4789:Dlat	UTSW	9	50,570,670 (GRCm39)	missense	probably benign
R6138:Dlat	UTSW	9	50,556,417 (GRCm39)	splice site	probably null
R6778:Dlat	UTSW	9	50,562,157 (GRCm39)	missense	probably damaging	1.00
R7010:Dlat	UTSW	9	50,569,274 (GRCm39)	missense	probably damaging	1.00
R8065:Dlat	UTSW	9	50,569,149 (GRCm39)	missense	possibly damaging	0.67
R8677:Dlat	UTSW	9	50,570,007 (GRCm39)	missense	probably damaging	0.99
R8724:Dlat	UTSW	9	50,560,967 (GRCm39)	missense	probably damaging	1.00
R8725:Dlat	UTSW	9	50,560,967 (GRCm39)	missense	probably damaging	1.00
R8742:Dlat	UTSW	9	50,560,967 (GRCm39)	missense	probably damaging	1.00
R8745:Dlat	UTSW	9	50,560,967 (GRCm39)	missense	probably damaging	1.00
R8753:Dlat	UTSW	9	50,560,967 (GRCm39)	missense	probably damaging	1.00
R8754:Dlat	UTSW	9	50,560,967 (GRCm39)	missense	probably damaging	1.00
R9111:Dlat	UTSW	9	50,570,906 (GRCm39)	unclassified	probably benign
R9777:Dlat	UTSW	9	50,562,208 (GRCm39)	missense	probably damaging	0.99
U15987:Dlat	UTSW	9	50,556,417 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTCTAATAACAAAGCACATGGC -3'
(R):5'- TGCTGGCATTTCCACTCTGG -3'

Sequencing Primer
(F):5'- TGGCAACACTGGAAAGGTTTC -3'
(R):5'- GTCTGTGTGGTAGTTTAAAACACC -3'

Posted On

2017-02-15