Mutagenetix > Incidental Mutation

Incidental Mutation 'R7730:Dld'

595775

Institutional Source

Beutler Lab

Gene Symbol

Dld

Ensembl Gene

ENSMUSG00000020664

Gene Name

dihydrolipoamide dehydrogenase

Synonyms

branched chain alpha-keto acid dehydrogenase complex subunit E3, dihydrolipoyl dehydrogenase

MMRRC Submission

045786-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R7730 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31381561-31401470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 31390864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 194 (T194K)

Ref Sequence

ENSEMBL: ENSMUSP00000106481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110857]

AlphaFold

O08749

Predicted Effect

probably benign
Transcript: ENSMUST00000110857
AA Change: T194K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106481
Gene: ENSMUSG00000020664
AA Change: T194K

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	42	370	2.3e-71	PFAM
Pfam:FAD_binding_2	43	83	2.5e-7	PFAM
Pfam:GIDA	43	111	1.7e-8	PFAM
Pfam:FAD_oxidored	43	135	4.3e-10	PFAM
Pfam:NAD_binding_8	46	100	1.4e-6	PFAM
Pfam:Pyr_redox	215	298	4.9e-17	PFAM
Pfam:Pyr_redox_dim	389	498	1.6e-43	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. [provided by RefSeq, Jan 2014]
PHENOTYPE: Embryos homozygous for a targeted null mutation exhibit a developmental delay at 7.5 days postcoitum and are resorbed by 9.5 days postcoitum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	A	11: 48,838,703 (GRCm39)	H628L	probably benign	Het
Adam6a	T	A	12: 113,507,660 (GRCm39)	V11E	possibly damaging	Het
Amotl1	T	G	9: 14,467,059 (GRCm39)	K660T	possibly damaging	Het
Ap4m1	T	C	5: 138,171,077 (GRCm39)	I59T	probably damaging	Het
Brd3	T	C	2: 27,346,967 (GRCm39)	Y389C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Card11	C	A	5: 140,871,751 (GRCm39)	R650L	probably damaging	Het
Cercam	G	A	2: 29,762,574 (GRCm39)		probably null	Het
Cnst	T	C	1: 179,452,650 (GRCm39)	C673R	probably damaging	Het
Dnah12	T	A	14: 26,507,890 (GRCm39)	W1714R	probably damaging	Het
Dsg1a	T	G	18: 20,464,768 (GRCm39)	V421G	possibly damaging	Het
Fer1l4	G	T	2: 155,890,854 (GRCm39)	P188Q	probably benign	Het
Gpr158	T	C	2: 21,831,158 (GRCm39)	S753P	probably damaging	Het
Hdc	A	T	2: 126,436,002 (GRCm39)	M623K	possibly damaging	Het
Herc1	CAACCCTGGTAAC	CAAC	9: 66,400,472 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,954,878 (GRCm39)	F203I	probably damaging	Het
Jag2	A	T	12: 112,885,661 (GRCm39)	I145N	probably damaging	Het
Kcnt2	T	A	1: 140,446,686 (GRCm39)	F694I	probably benign	Het
Lpl	A	T	8: 69,340,100 (GRCm39)	R32*	probably null	Het
Mcpt4	T	A	14: 56,297,428 (GRCm39)	I243L	probably benign	Het
Mtf1	C	A	4: 124,732,412 (GRCm39)	A490E	possibly damaging	Het
Mycbp2	A	T	14: 103,360,791 (GRCm39)	M4497K	probably damaging	Het
Myog	T	C	1: 134,218,914 (GRCm39)		probably null	Het
Nav2	T	C	7: 49,222,145 (GRCm39)	S1757P	probably damaging	Het
Or7g18	T	G	9: 18,786,709 (GRCm39)	F26V	probably benign	Het
Osmr	T	A	15: 6,853,963 (GRCm39)	I583F	probably damaging	Het
Phf19	T	A	2: 34,785,816 (GRCm39)	E551V	probably damaging	Het
Plxnb2	A	G	15: 89,046,533 (GRCm39)	M870T	probably benign	Het
Psat1	A	G	19: 15,895,720 (GRCm39)	F83L	probably damaging	Het
Reep1	T	A	6: 71,757,725 (GRCm39)	V108D	possibly damaging	Het
Rorc	A	G	3: 94,300,421 (GRCm39)	T455A	probably benign	Het
Serinc5	T	G	13: 92,821,698 (GRCm39)	I169S	probably damaging	Het
Serpinb6c	T	C	13: 34,083,292 (GRCm39)	M41V	probably damaging	Het
Sgsm3	A	T	15: 80,892,927 (GRCm39)	N335Y	probably damaging	Het
Slamf7	C	T	1: 171,468,589 (GRCm39)	R101H	possibly damaging	Het
Slc17a4	A	T	13: 24,084,503 (GRCm39)	L427*	probably null	Het
Slc35a5	T	C	16: 44,964,246 (GRCm39)	Q329R	probably damaging	Het
Slc45a1	C	T	4: 150,715,397 (GRCm39)	C656Y	probably damaging	Het
Srsf6	T	C	2: 162,773,643 (GRCm39)	I18T	probably damaging	Het
Syn3	T	G	10: 86,284,773 (GRCm39)	H109P	probably benign	Het
Synj2	T	C	17: 6,066,562 (GRCm39)	V580A	probably benign	Het
Tbc1d9b	T	C	11: 50,026,742 (GRCm39)	V70A	possibly damaging	Het
Tc2n	A	G	12: 101,617,406 (GRCm39)	Y402H	probably damaging	Het
Tmbim4	T	C	10: 120,059,767 (GRCm39)	C164R	possibly damaging	Het
Tnfrsf11b	T	A	15: 54,117,470 (GRCm39)	R262*	probably null	Het
Tnip1	T	C	11: 54,828,805 (GRCm39)	K121E	probably benign	Het
Tut1	T	C	19: 8,941,740 (GRCm39)		probably null	Het
Uhrf2	T	A	19: 30,052,501 (GRCm39)	C332S	probably damaging	Het
Vmn2r101	A	G	17: 19,831,950 (GRCm39)	I649V	possibly damaging	Het
Vwa8	A	G	14: 79,232,589 (GRCm39)	T644A	probably benign	Het
Zfhx2	T	C	14: 55,304,357 (GRCm39)	H1209R	possibly damaging	Het
Zfp384	A	G	6: 125,008,635 (GRCm39)	I306V	probably benign	Het
Zfp964	A	G	8: 70,116,360 (GRCm39)	E320G	possibly damaging	Het
Zmym2	A	T	14: 57,193,638 (GRCm39)	Y1151F	possibly damaging	Het

Other mutations in Dld

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Dld	APN	12	31,385,576 (GRCm39)	missense	probably benign
IGL00656:Dld	APN	12	31,399,594 (GRCm39)	critical splice donor site	probably null
IGL00907:Dld	APN	12	31,382,329 (GRCm39)	unclassified	probably benign
IGL01870:Dld	APN	12	31,385,466 (GRCm39)	missense	possibly damaging	0.89
IGL02654:Dld	APN	12	31,383,916 (GRCm39)	missense	probably benign	0.19
IGL02666:Dld	APN	12	31,382,408 (GRCm39)	missense	probably null	0.00
PIT4544001:Dld	UTSW	12	31,385,556 (GRCm39)	nonsense	probably null
R0973:Dld	UTSW	12	31,384,053 (GRCm39)	missense	probably damaging	1.00
R1748:Dld	UTSW	12	31,384,745 (GRCm39)	missense	probably benign
R2225:Dld	UTSW	12	31,391,448 (GRCm39)	missense	probably benign	0.01
R4614:Dld	UTSW	12	31,383,944 (GRCm39)	nonsense	probably null
R5933:Dld	UTSW	12	31,383,982 (GRCm39)	missense	probably benign	0.00
R5966:Dld	UTSW	12	31,390,325 (GRCm39)	missense	probably damaging	1.00
R6088:Dld	UTSW	12	31,390,988 (GRCm39)	missense	probably benign
R6190:Dld	UTSW	12	31,394,847 (GRCm39)	missense	probably damaging	1.00
R6327:Dld	UTSW	12	31,382,190 (GRCm39)	missense	probably benign
R6750:Dld	UTSW	12	31,382,213 (GRCm39)	missense	probably benign	0.00
R7149:Dld	UTSW	12	31,385,589 (GRCm39)	missense	probably benign
R7414:Dld	UTSW	12	31,385,525 (GRCm39)	missense	probably damaging	1.00
R8944:Dld	UTSW	12	31,390,868 (GRCm39)	missense	possibly damaging	0.92
R8989:Dld	UTSW	12	31,383,458 (GRCm39)	missense	probably damaging	1.00
R9198:Dld	UTSW	12	31,390,885 (GRCm39)	missense	probably benign	0.28
R9619:Dld	UTSW	12	31,382,390 (GRCm39)	nonsense	probably null
X0065:Dld	UTSW	12	31,391,388 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGATAAAGCTCCTGTAGATGACAC -3'
(R):5'- AGAGTATTGTTCCTGTTACTCCTG -3'

Sequencing Primer
(F):5'- CAGAGACAGTCTTGCTATGTAGTCC -3'
(R):5'- CTCAGGAAAACATTGAAACATTGTG -3'

Posted On

2019-11-12