Mutagenetix > Incidental Mutation

Incidental Mutation 'R7012:Lipt1'

545058

Institutional Source

Beutler Lab

Gene Symbol

Lipt1

Ensembl Gene

ENSMUSG00000037216

Gene Name

lipoyltransferase 1

Synonyms

EG623661

MMRRC Submission

045113-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37910819-37915309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37915060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 372 (I372T)

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 benign
Transcript: ENSMUST00000041621
AA Change: I372T

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038739
Gene: ENSMUSG00000037216
AA Change: I372T

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

Meta Mutation Damage Score

0.0715

Coding Region Coverage

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

Validation Efficiency

100% (49/49)

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
Acox3	T	C	5: 35,769,431 (GRCm39)	F686L	probably benign	Het
Adcy4	C	T	14: 56,017,376 (GRCm39)	V266I	possibly damaging	Het
Adgrb1	A	G	15: 74,401,750 (GRCm39)	T249A	probably damaging	Het
Adss1	A	G	12: 112,600,670 (GRCm39)	D213G	probably benign	Het
Ap1b1	T	G	11: 4,980,963 (GRCm39)	V453G	probably damaging	Het
Apold1	G	A	6: 134,961,007 (GRCm39)	G154R	probably damaging	Het
Birc5	A	G	11: 117,740,262 (GRCm39)	E29G	probably benign	Het
Clcn1	G	A	6: 42,267,542 (GRCm39)	R75H	probably benign	Het
Cngb1	T	A	8: 95,984,583 (GRCm39)	I868F	possibly damaging	Het
Cntn6	T	A	6: 104,703,223 (GRCm39)	V215E	probably damaging	Het
Cntn6	A	G	6: 104,751,441 (GRCm39)	I294V	probably benign	Het
Col6a2	A	T	10: 76,450,511 (GRCm39)	I140N	possibly damaging	Het
Cops5	A	G	1: 10,100,890 (GRCm39)	*147Q	probably null	Het
Dbr1	T	A	9: 99,465,374 (GRCm39)	Y317*	probably null	Het
Dock5	A	C	14: 68,060,035 (GRCm39)	V468G	probably damaging	Het
F13b	A	G	1: 139,444,096 (GRCm39)	I477V	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Git1	T	C	11: 77,390,606 (GRCm39)	L114P	probably damaging	Het
Greb1l	G	T	18: 10,529,707 (GRCm39)		probably null	Het
Itih4	A	G	14: 30,612,706 (GRCm39)	N244S	probably benign	Het
Lin28a	A	G	4: 133,746,040 (GRCm39)	S5P	probably damaging	Het
Lysmd4	A	G	7: 66,875,765 (GRCm39)	T143A	probably benign	Het
Muc16	T	C	9: 18,406,914 (GRCm39)		probably null	Het
Or13c9	A	G	4: 52,936,193 (GRCm39)	L30P	probably damaging	Het
Or2y1g	A	T	11: 49,171,823 (GRCm39)	M283L	probably benign	Het
Or5t16	A	T	2: 86,819,051 (GRCm39)	H156Q	possibly damaging	Het
Or6e1	A	G	14: 54,519,674 (GRCm39)	I226T	possibly damaging	Het
Pclo	G	A	5: 14,800,493 (GRCm39)	G4438D	unknown	Het
Phlpp2	T	A	8: 110,603,486 (GRCm39)	F51I	possibly damaging	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rxfp2	T	C	5: 150,004,659 (GRCm39)	V711A	probably benign	Het
Sbno2	A	T	10: 79,905,352 (GRCm39)		probably benign	Het
Setd2	T	A	9: 110,376,751 (GRCm39)	S189T	probably damaging	Het
Sez6	A	G	11: 77,868,621 (GRCm39)	N965S	probably benign	Het
Sh3d19	A	G	3: 85,992,320 (GRCm39)	N116S	probably benign	Het
Slc43a3	T	C	2: 84,777,313 (GRCm39)	Y221H	probably damaging	Het
Slco1a6	T	C	6: 142,032,287 (GRCm39)	I613V	probably benign	Het
Stag3	T	A	5: 138,295,871 (GRCm39)		probably null	Het
Ston1	T	C	17: 88,943,413 (GRCm39)	M273T	probably damaging	Het
Tbc1d32	A	T	10: 56,100,820 (GRCm39)	Y53N	probably damaging	Het
Tmem132b	T	A	5: 125,775,654 (GRCm39)	L376Q	probably damaging	Het
Trim60	A	G	8: 65,453,043 (GRCm39)	V402A	possibly damaging	Het
Tssk5	A	C	15: 76,257,745 (GRCm39)	N178K	probably damaging	Het
Ttll9	T	C	2: 152,844,982 (GRCm39)	I450T	possibly damaging	Het
Tyw1	T	G	5: 130,306,571 (GRCm39)		probably null	Het
Usp16	T	C	16: 87,255,632 (GRCm39)		probably null	Het
Vmn2r97	T	C	17: 19,167,756 (GRCm39)	V670A	probably damaging	Het
Vmn2r98	A	G	17: 19,286,530 (GRCm39)	N343D	probably benign	Het
Zfp472	T	G	17: 33,196,220 (GRCm39)	N98K	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
R7704:Lipt1	UTSW	1	37,915,043 (GRCm39)	nonsense	probably null
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'- TCGAAACCTGCGCTATTAAGG -3'
(R):5'- GGCCCTGAAAGTGCCAAAAC -3'

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

Posted On

2019-05-13