Mutagenetix > Incidental Mutations

Incidental Mutation 'R4833:Lipt1'

372959

Institutional Source

Beutler Lab

Gene Symbol

Lipt1

Ensembl Gene

ENSMUSG00000037216

Gene Name

lipoyltransferase 1

Synonyms

EG623661

MMRRC Submission

042449-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37871738-37876228 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37875529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 222 (L222R)

Ref Sequence

ENSEMBL: ENSMUSP00000115465 (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 damaging
Transcript: ENSMUST00000041621
AA Change: L222R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038739
Gene: ENSMUSG00000037216
AA Change: L222R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127170

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

noncoding transcript
Transcript: ENSMUST00000131754

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 damaging
Transcript: ENSMUST00000144440
AA Change: L222R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115465
Gene: ENSMUSG00000037216
AA Change: L222R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181885

Meta Mutation Damage Score

0.4836

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (74/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,872	T153K	possibly damaging	Het
4932438A13Rik	A	G	3: 36,964,968	I2007V	probably damaging	Het
Abca5	A	C	11: 110,279,316	Y1318D	probably benign	Het
Adam18	A	G	8: 24,674,101	I22T	probably benign	Het
Adgrv1	T	A	13: 81,560,844	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,043,857		probably null	Het
Bdkrb2	T	C	12: 105,591,658	W53R	probably benign	Het
Blm	T	A	7: 80,466,826	I1111L	probably benign	Het
Bmp3	T	G	5: 98,855,207	L32R	probably damaging	Het
Cdh23	T	G	10: 60,385,038	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,752,258	T560M	probably benign	Het
Cmtm8	C	A	9: 114,796,165	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,529,602	V252E	unknown	Het
Col6a4	A	T	9: 106,071,979	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783	S372P	probably benign	Het
Daam2	A	T	17: 49,490,145	I204N	possibly damaging	Het
Dock6	T	C	9: 21,844,280	D216G	probably damaging	Het
Epha5	C	T	5: 84,105,891	D548N	possibly damaging	Het
Erich2	T	C	2: 70,534,292	Y311H	possibly damaging	Het
Gm3985	A	G	8: 32,890,477		noncoding transcript	Het
Gnb1	A	G	4: 155,543,067	T102A	possibly damaging	Het
Hcfc2	C	T	10: 82,709,146	A204V	probably null	Het
Hnrnpu	T	C	1: 178,333,894		probably benign	Het
Htt	A	G	5: 34,852,225	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,957,139	D223V	probably damaging	Het
Kpna6	A	G	4: 129,657,779	S71P	possibly damaging	Het
Lama3	A	G	18: 12,441,131	D590G	probably benign	Het
Lrrc41	A	G	4: 116,093,177		probably benign	Het
Lrrc59	T	C	11: 94,634,672	V98A	probably benign	Het
Mast4	A	G	13: 102,774,184		probably null	Het
Mdc1	C	T	17: 35,850,394	S733F	probably benign	Het
Mknk1	C	T	4: 115,878,186		probably benign	Het
Mtmr7	A	G	8: 40,590,462	F141S	probably damaging	Het
Myo15b	A	G	11: 115,887,602	D1G	possibly damaging	Het
Odf3	T	C	7: 140,848,278	M1T	probably null	Het
Olfr1356	T	G	10: 78,847,575	L113F	probably damaging	Het
Phkb	T	A	8: 85,901,911	V183E	probably damaging	Het
Pola2	T	C	19: 5,953,864	Y161C	probably damaging	Het
Psen1	G	A	12: 83,731,778	V412I	probably benign	Het
Psmc4	C	A	7: 28,047,512	G77V	probably damaging	Het
Psmd3	A	G	11: 98,687,760	Y207C	probably damaging	Het
Pxk	T	A	14: 8,130,653	M84K	probably damaging	Het
Rab44	A	C	17: 29,136,337	Q19P	probably damaging	Het
Rbks	A	G	5: 31,624,515	Y314H	probably benign	Het
Rftn2	T	C	1: 55,214,240	D68G	possibly damaging	Het
Rims2	T	A	15: 39,535,914	S838R	probably damaging	Het
Sdc4	A	T	2: 164,431,218	D57E	probably damaging	Het
Slfn14	A	G	11: 83,279,156	L554P	probably damaging	Het
Spink2	G	T	5: 77,205,392	D83E	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Taar8b	A	T	10: 24,092,132	S55T	possibly damaging	Het
Tbca	A	G	13: 94,832,410	E35G	probably benign	Het
Tmc5	C	A	7: 118,628,829	H307Q	probably benign	Het
Tmem169	A	G	1: 72,298,152	D82G	probably benign	Het
Tmem72	T	C	6: 116,698,358	T58A	probably benign	Het
Ttc7	C	T	17: 87,334,321	P449S	probably damaging	Het
Ttf2	T	C	3: 100,961,406	E449G	probably benign	Het
Ubr4	C	A	4: 139,402,546	T659K	probably damaging	Het
Wdr1	A	G	5: 38,547,029	Y98H	probably damaging	Het
Wfikkn2	A	G	11: 94,239,052	Y88H	probably benign	Het
Zfp384	A	T	6: 125,030,848	H247L	probably damaging	Het
Zfp526	C	T	7: 25,225,870	A518V	probably damaging	Het
Zfp788	T	A	7: 41,647,568	H47Q	probably benign	Het

Other mutations in Lipt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Lipt1	APN	1	37875183	missense	probably damaging	1.00
IGL02138:Lipt1	APN	1	37875786	missense	possibly damaging	0.81
IGL03209:Lipt1	APN	1	37875069	missense	probably damaging	0.99
R0811:Lipt1	UTSW	1	37875301	missense	probably damaging	1.00
R0812:Lipt1	UTSW	1	37875301	missense	probably damaging	1.00
R4824:Lipt1	UTSW	1	37875432	missense	possibly damaging	0.59
R6518:Lipt1	UTSW	1	37875775	missense	probably benign	0.10
R7012:Lipt1	UTSW	1	37875979	missense	probably benign	0.24
R7704:Lipt1	UTSW	1	37875962	nonsense	probably null
R7735:Lipt1	UTSW	1	37875622	missense	probably damaging	1.00
R8220:Lipt1	UTSW	1	37875625	missense	probably damaging	0.98
Z1176:Lipt1	UTSW	1	37875903	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGAACCGCATCAAAGATCG -3'
(R):5'- GATTTCCAAATGCGCCTGCTC -3'

Sequencing Primer
(F):5'- CATCAAAGATCGGCCGGACTG -3'
(R):5'- GTCCACGGTAAACTTGGGAGTC -3'

Posted On

2016-03-01