Mutagenetix > Incidental Mutation

Incidental Mutation 'R8944:Dld'

681188

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

068783-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R8944 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31381561-31401470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31390868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 193 (I193F)

Ref Sequence

ENSEMBL: ENSMUSP00000106481 (fasta)

Gene Model

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

AlphaFold

O08749

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110857
AA Change: I193F

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106481
Gene: ENSMUSG00000020664
AA Change: I193F

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

100% (88/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,049,851 (GRCm39)		probably benign	Het
A830018L16Rik	A	T	1: 11,484,706 (GRCm39)		probably benign	Het
Acox1	C	T	11: 116,066,040 (GRCm39)	R454H	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam18	A	G	8: 25,164,703 (GRCm39)	L4P	probably damaging	Het
AI182371	A	C	2: 34,990,622 (GRCm39)	L25R	probably damaging	Het
Ankrd12	A	C	17: 66,277,195 (GRCm39)	Y2026*	probably null	Het
Atad5	C	T	11: 79,986,524 (GRCm39)	T537M	possibly damaging	Het
Atosa	A	G	9: 74,911,562 (GRCm39)	Y11C	probably damaging	Het
Avil	G	T	10: 126,846,455 (GRCm39)	G420V	probably damaging	Het
Bche	A	T	3: 73,608,008 (GRCm39)	F473I	probably damaging	Het
Borcs5	T	C	6: 134,621,437 (GRCm39)		probably null	Het
C4b	T	C	17: 34,961,913 (GRCm39)	Q111R	probably benign	Het
Carmil2	T	A	8: 106,417,437 (GRCm39)	I565N	probably damaging	Het
Cd74	T	C	18: 60,943,127 (GRCm39)	M155T	probably damaging	Het
Chrnd	G	T	1: 87,119,997 (GRCm39)	R105L	probably damaging	Het
Clpp	G	T	17: 57,300,553 (GRCm39)	E217*	probably null	Het
Cpq	T	A	15: 33,594,269 (GRCm39)	Y427N	probably damaging	Het
Crxos	G	A	7: 15,636,900 (GRCm39)	E54K	possibly damaging	Het
Dcaf13	A	G	15: 39,001,612 (GRCm39)	R307G	possibly damaging	Het
Ddx55	A	G	5: 124,706,788 (GRCm39)	D595G	probably damaging	Het
Dnah11	T	G	12: 118,091,381 (GRCm39)	E917A	possibly damaging	Het
Dnai2	T	A	11: 114,641,302 (GRCm39)	Y376N	possibly damaging	Het
Dock7	A	G	4: 98,829,243 (GRCm39)	Y2078H	probably damaging	Het
Dusp4	A	T	8: 35,274,941 (GRCm39)	N20I	probably benign	Het
Dzank1	A	G	2: 144,333,729 (GRCm39)	L367P	probably benign	Het
Eea1	T	A	10: 95,832,822 (GRCm39)	D222E	probably damaging	Het
Erich3	G	C	3: 154,462,692 (GRCm39)	R742S		Het
Erich6	C	T	3: 58,537,275 (GRCm39)	M246I	probably benign	Het
Galnt16	T	G	12: 80,623,314 (GRCm39)	I158S	probably damaging	Het
Gm28363	A	G	1: 117,655,080 (GRCm39)	T100A	possibly damaging	Het
Gm8257	A	T	14: 44,893,849 (GRCm39)	Y36N	probably damaging	Het
Gmpr2	T	C	14: 55,913,149 (GRCm39)	V142A	possibly damaging	Het
Grid2ip	T	C	5: 143,366,260 (GRCm39)		probably null	Het
Hamp2	A	G	7: 30,622,001 (GRCm39)	F63L	possibly damaging	Het
Hmga2	T	C	10: 120,309,159 (GRCm39)	K66E	probably damaging	Het
Hspa1a	T	C	17: 35,190,019 (GRCm39)	T295A	probably benign	Het
Ift74	G	A	4: 94,510,128 (GRCm39)	G53D	probably damaging	Het
Ighv6-7	T	C	12: 114,419,703 (GRCm39)	M1V	probably null	Het
Ints4	T	A	7: 97,183,593 (GRCm39)	D769E	probably benign	Het
Kif7	G	A	7: 79,360,005 (GRCm39)	R411C	probably damaging	Het
Klhl30	T	A	1: 91,287,174 (GRCm39)	Y487N	probably damaging	Het
Kras	T	C	6: 145,170,853 (GRCm39)	E174G	probably benign	Het
Krt84	T	C	15: 101,437,183 (GRCm39)	I327V	probably benign	Het
Lamb3	T	A	1: 193,014,525 (GRCm39)	C561*	probably null	Het
Lmbrd1	A	G	1: 24,767,407 (GRCm39)		probably benign	Het
Lmnb1	T	A	18: 56,876,331 (GRCm39)	S480T	probably benign	Het
Lrp2	C	T	2: 69,341,348 (GRCm39)	G944D	probably damaging	Het
Mta3	G	A	17: 84,083,146 (GRCm39)	E280K	probably damaging	Het
Muc5b	A	T	7: 141,421,115 (GRCm39)	I4236F		Het
Myh9	T	C	15: 77,655,432 (GRCm39)	T1175A	probably benign	Het
Myt1l	T	A	12: 29,861,564 (GRCm39)	D115E	unknown	Het
Naa25	A	G	5: 121,552,573 (GRCm39)	N167D	probably benign	Het
Ncam1	G	A	9: 49,431,493 (GRCm39)	P648L	probably damaging	Het
Or2t26	T	C	11: 49,039,266 (GRCm39)	Y61H	probably damaging	Het
Or2t44	A	T	11: 58,677,519 (GRCm39)	D153V	probably damaging	Het
P3h3	G	T	6: 124,832,196 (GRCm39)	A230E	possibly damaging	Het
Pacs2	A	G	12: 113,020,476 (GRCm39)	E253G	probably damaging	Het
Pbld1	A	T	10: 62,901,648 (GRCm39)	D57V	probably benign	Het
Pcsk5	T	C	19: 17,452,275 (GRCm39)	T1077A	probably damaging	Het
Pou4f2	T	A	8: 79,161,932 (GRCm39)	M224L		Het
Ppcdc	C	T	9: 57,342,265 (GRCm39)	R19H	probably benign	Het
Ppp1r10	T	A	17: 36,241,018 (GRCm39)	M640K	probably benign	Het
Prdx6	A	T	1: 161,069,432 (GRCm39)		probably benign	Het
Rab40b	A	G	11: 121,250,384 (GRCm39)		probably null	Het
Rassf9	T	A	10: 102,381,329 (GRCm39)	M237K	probably benign	Het
Rbbp8nl	G	T	2: 179,919,769 (GRCm39)	Y604*	probably null	Het
Reep2	G	T	18: 34,975,929 (GRCm39)	W42L	possibly damaging	Het
Serpinb6e	A	T	13: 34,017,261 (GRCm39)	M253K	probably damaging	Het
Shank2	A	G	7: 143,623,927 (GRCm39)	Q304R	probably damaging	Het
Slk	T	C	19: 47,600,057 (GRCm39)	M120T	probably damaging	Het
Spata31e5	T	C	1: 28,816,155 (GRCm39)	I626V	probably benign	Het
Sphkap	T	A	1: 83,256,927 (GRCm39)	H274L	probably benign	Het
Stc1	T	G	14: 69,269,884 (GRCm39)	F155V	possibly damaging	Het
Tbc1d12	A	G	19: 38,899,510 (GRCm39)	T477A	probably damaging	Het
Tmem19	T	A	10: 115,183,671 (GRCm39)	I54F	possibly damaging	Het
Tmem62	G	A	2: 120,817,316 (GRCm39)		probably null	Het
Ttc6	A	T	12: 57,689,826 (GRCm39)	R505S		Het
Ttn	G	T	2: 76,623,184 (GRCm39)	R15418S	probably damaging	Het
Ugt2a3	C	A	5: 87,473,417 (GRCm39)	C500F	possibly damaging	Het
Ugt2b35	T	C	5: 87,149,310 (GRCm39)	F187S	probably benign	Het
Ung	T	A	5: 114,269,456 (GRCm39)	I56N	probably damaging	Het
Vmn1r17	G	T	6: 57,338,142 (GRCm39)	F25L	probably benign	Het
Vmn1r29	C	A	6: 58,284,274 (GRCm39)		probably benign	Het
Vps26c	T	A	16: 94,302,481 (GRCm39)	I242F	probably benign	Het
Wdhd1	T	C	14: 47,504,470 (GRCm39)	D368G	probably benign	Het
Wdr3	A	T	3: 100,057,259 (GRCm39)	I448N	probably damaging	Het
Wdr47	T	A	3: 108,550,480 (GRCm39)	M835K	possibly damaging	Het
Wt1	G	A	2: 104,957,584 (GRCm39)	G10D	possibly damaging	Het
Zdhhc19	G	A	16: 32,316,500 (GRCm39)	G85D	probably 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
R7730:Dld	UTSW	12	31,390,864 (GRCm39)	missense	probably benign	0.00
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'- AAGGATAAAGCTCCTGTAGATGAC -3'
(R):5'- AGAGTATTGTTCCTGTTACTCCTG -3'

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

Posted On

2021-08-31