Mutagenetix > Incidental Mutation

Incidental Mutation 'R7704:Lipt1'

594165

Institutional Source

Beutler Lab

Gene Symbol

Lipt1

Ensembl Gene

ENSMUSG00000037216

Gene Name

lipoyltransferase 1

Synonyms

EG623661

MMRRC Submission

045765-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7704 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37910819-37915309 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 37915043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 366 (C366*)

Ref Sequence

ENSEMBL: ENSMUSP00000038739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027257] [ENSMUST00000041621] [ENSMUST00000128085] [ENSMUST00000139725] [ENSMUST00000142670] [ENSMUST00000144440]

AlphaFold

Q8VCM4

Predicted Effect

probably benign
Transcript: ENSMUST00000027257

SMART Domains

Protein: ENSMUSP00000027257
Gene: ENSMUSG00000026088

Domain	Start	End	E-Value	Type
MIT	8	86	4.27e-17	SMART
Pfam:MIT_C	100	242	4.3e-62	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000041621
AA Change: C366*

SMART Domains

Protein: ENSMUSP00000038739
Gene: ENSMUSG00000037216
AA Change: C366*

Domain	Start	End	E-Value	Type
PDB:3A7U\|A	31	373	N/A	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000128085

SMART Domains

Protein: ENSMUSP00000119243
Gene: ENSMUSG00000037216

Domain	Start	End	E-Value	Type
Pfam:BPL_LplA_LipB	74	159	1.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139725

SMART Domains

Protein: ENSMUSP00000123009
Gene: ENSMUSG00000026088

Domain	Start	End	E-Value	Type
MIT	8	86	4.27e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142670

SMART Domains

Protein: ENSMUSP00000122160
Gene: ENSMUSG00000037216

Domain	Start	End	E-Value	Type
Pfam:BPL_LplA_LipB	74	185	4.5e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144440

SMART Domains

Protein: ENSMUSP00000115465
Gene: ENSMUSG00000037216

Domain	Start	End	E-Value	Type
Pfam:BPL_LplA_LipB	74	185	6.6e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,756,068 (GRCm39)	W1458L	probably damaging	Het
Actn4	A	T	7: 28,596,467 (GRCm39)	I676N	possibly damaging	Het
Adamts10	T	C	17: 33,770,126 (GRCm39)	C1002R	probably damaging	Het
Agbl2	A	C	2: 90,619,349 (GRCm39)	N58T	probably benign	Het
Akap12	A	T	10: 4,306,082 (GRCm39)	D1069V	probably damaging	Het
Bltp2	C	A	11: 78,159,570 (GRCm39)	Q540K	probably benign	Het
Cfap65	T	A	1: 74,967,527 (GRCm39)	T184S	probably benign	Het
Chd1	T	C	17: 15,987,737 (GRCm39)	V1517A	probably benign	Het
CN725425	T	A	15: 91,119,993 (GRCm39)	V38D	possibly damaging	Het
Copg1	T	A	6: 87,884,940 (GRCm39)	L712Q	probably benign	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Ddx21	T	C	10: 62,429,865 (GRCm39)	Y293C	probably damaging	Het
Ddx46	C	T	13: 55,821,832 (GRCm39)	P839S	probably benign	Het
Dennd5a	A	G	7: 109,496,174 (GRCm39)	V1164A	possibly damaging	Het
Dync1h1	T	A	12: 110,632,200 (GRCm39)	I4490N	probably damaging	Het
Ecm1	A	C	3: 95,643,843 (GRCm39)	Y236D	probably damaging	Het
Fat2	T	C	11: 55,175,173 (GRCm39)	T1847A	probably benign	Het
Galc	T	A	12: 98,175,102 (GRCm39)	I567L	probably benign	Het
Gask1a	C	T	9: 121,780,151 (GRCm39)		probably benign	Het
H6pd	T	C	4: 150,067,360 (GRCm39)	D350G	probably benign	Het
Ifi44	A	G	3: 151,438,061 (GRCm39)	Y409H	probably benign	Het
Kdm5a	T	G	6: 120,404,025 (GRCm39)	F1210C	probably damaging	Het
Kdm5b	C	T	1: 134,515,669 (GRCm39)	R98C	probably damaging	Het
Med13	G	A	11: 86,236,744 (GRCm39)	R138*	probably null	Het
Mterf1a	A	G	5: 3,941,845 (GRCm39)	C8R	probably benign	Het
Ncapg2	A	T	12: 116,382,897 (GRCm39)	I243F	probably damaging	Het
Nop58	T	C	1: 59,744,754 (GRCm39)	S304P	probably damaging	Het
Nsd2	T	C	5: 34,028,811 (GRCm39)	*167Q	probably null	Het
Or1e30	T	G	11: 73,678,616 (GRCm39)	M284R	probably damaging	Het
Or2t35	T	A	14: 14,407,867 (GRCm38)	I213N	probably damaging	Het
Or52ab2	T	A	7: 102,969,978 (GRCm39)	M120K		Het
Pramel29	C	T	4: 143,935,091 (GRCm39)	V217I	possibly damaging	Het
Prdm16	C	T	4: 154,425,947 (GRCm39)	G613R	probably damaging	Het
Prss46	T	C	9: 110,679,065 (GRCm39)	S89P	probably damaging	Het
Scin	T	C	12: 40,174,687 (GRCm39)	N132S	possibly damaging	Het
Sec14l2	T	C	11: 4,058,574 (GRCm39)	K196R	probably benign	Het
Sox17	C	A	1: 4,563,895 (GRCm39)		probably benign	Het
Tango6	A	G	8: 107,425,621 (GRCm39)	T394A	probably benign	Het
Tbc1d22a	T	A	15: 86,250,876 (GRCm39)	I398N	probably damaging	Het
Tdpoz8	A	G	3: 92,981,752 (GRCm39)	I183V	probably benign	Het
Tmem8b	T	C	4: 43,689,461 (GRCm39)	V285A	probably damaging	Het
Tnfrsf11b	T	A	15: 54,123,497 (GRCm39)	T35S	probably benign	Het
Unc13c	T	A	9: 73,606,494 (GRCm39)	I1289F	probably benign	Het
Ust	C	T	10: 8,205,987 (GRCm39)	V99I	probably benign	Het
Vmn1r76	A	G	7: 11,664,344 (GRCm39)	V290A	probably benign	Het
Vmn2r50	T	C	7: 9,781,665 (GRCm39)	N360S	probably benign	Het
Vmn2r93	T	C	17: 18,536,910 (GRCm39)	I531T	probably benign	Het
Zap70	T	C	1: 36,818,395 (GRCm39)		probably null	Het
Zfp932	A	G	5: 110,157,630 (GRCm39)	N443D	probably benign	Het

Other mutations in Lipt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Lipt1	APN	1	37,914,264 (GRCm39)	missense	probably damaging	1.00
IGL02138:Lipt1	APN	1	37,914,867 (GRCm39)	missense	possibly damaging	0.81
IGL03209:Lipt1	APN	1	37,914,150 (GRCm39)	missense	probably damaging	0.99
R0811:Lipt1	UTSW	1	37,914,382 (GRCm39)	missense	probably damaging	1.00
R0812:Lipt1	UTSW	1	37,914,382 (GRCm39)	missense	probably damaging	1.00
R4824:Lipt1	UTSW	1	37,914,513 (GRCm39)	missense	possibly damaging	0.59
R4833:Lipt1	UTSW	1	37,914,610 (GRCm39)	missense	probably damaging	1.00
R6518:Lipt1	UTSW	1	37,914,856 (GRCm39)	missense	probably benign	0.10
R7012:Lipt1	UTSW	1	37,915,060 (GRCm39)	missense	probably benign	0.24
R7735:Lipt1	UTSW	1	37,914,703 (GRCm39)	missense	probably damaging	1.00
R8220:Lipt1	UTSW	1	37,914,706 (GRCm39)	missense	probably damaging	0.98
R9523:Lipt1	UTSW	1	37,914,534 (GRCm39)	missense	probably damaging	1.00
Z1176:Lipt1	UTSW	1	37,914,984 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAATCGAAACCTGCGCTATTAAG -3'
(R):5'- GGCCCTGAAAGTGCCAAAAC -3'

Sequencing Primer
(F):5'- TATTAAGGCACCCGATCACTGG -3'
(R):5'- TCAATCAAAGTCTGACAAAAGCTGAG -3'

Posted On

2019-11-12