Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02138:Lipt1'

281408

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lipt1

Ensembl Gene

ENSMUSG00000037216

Gene Name

lipoyltransferase 1

Synonyms

EG623661

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02138

Quality Score

Status

Chromosome

Chromosomal Location

37910819-37915309 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37914867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 308 (E308K)

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

possibly damaging
Transcript: ENSMUST00000041621
AA Change: E308K

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038739
Gene: ENSMUSG00000037216
AA Change: E308K

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

noncoding transcript
Transcript: ENSMUST00000181885

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	G	14: 32,384,672 (GRCm39)	D431A	possibly damaging	Het
Adgrb1	T	C	15: 74,401,631 (GRCm39)	M209T	probably damaging	Het
Ano8	T	C	8: 71,937,486 (GRCm39)	H86R	probably damaging	Het
Camk1d	G	T	2: 5,449,895 (GRCm39)	Y87*	probably null	Het
Capza3	A	G	6: 139,987,872 (GRCm39)	D157G	probably benign	Het
Ckmt2	A	T	13: 92,009,947 (GRCm39)	D124E	probably benign	Het
Col14a1	C	A	15: 55,284,231 (GRCm39)	Q831K	unknown	Het
Copb2	C	T	9: 98,469,605 (GRCm39)	P829S	probably benign	Het
Dlg5	A	G	14: 24,208,419 (GRCm39)	V929A	probably benign	Het
Dolk	A	G	2: 30,175,991 (GRCm39)	V18A	probably benign	Het
Ecm2	G	T	13: 49,676,304 (GRCm39)	L340F	probably damaging	Het
Hacl1	A	G	14: 31,352,940 (GRCm39)	L149P	probably benign	Het
Higd2a	A	T	13: 54,738,235 (GRCm39)		probably null	Het
Hspa12a	A	T	19: 58,816,730 (GRCm39)	S28R	probably benign	Het
Igkv5-37	A	G	6: 69,940,435 (GRCm39)	Y70H	probably damaging	Het
Iho1	G	A	9: 108,283,820 (GRCm39)	T208I	probably benign	Het
Kif11	T	C	19: 37,373,057 (GRCm39)	V92A	probably damaging	Het
Kif26a	T	C	12: 112,141,284 (GRCm39)	S696P	probably damaging	Het
Kng1	A	T	16: 22,886,558 (GRCm39)	N168Y	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Lepr	A	G	4: 101,625,264 (GRCm39)	D473G	probably damaging	Het
Luc7l3	A	T	11: 94,194,792 (GRCm39)	F76Y	probably benign	Het
Mapk1	A	G	16: 16,841,316 (GRCm39)	I163V	probably benign	Het
Matn3	A	G	12: 9,017,638 (GRCm39)	E430G	possibly damaging	Het
Med13	A	T	11: 86,177,591 (GRCm39)	S1502T	probably damaging	Het
Mlf1	A	T	3: 67,307,046 (GRCm39)	H237L	probably benign	Het
Mss51	A	C	14: 20,534,923 (GRCm39)	Y282*	probably null	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or1p1c	A	T	11: 74,160,544 (GRCm39)	M110L	probably benign	Het
Or7d11	A	T	9: 19,966,196 (GRCm39)	S188T	probably benign	Het
Phrf1	T	A	7: 140,839,196 (GRCm39)		probably benign	Het
Ppme1	C	T	7: 99,983,139 (GRCm39)	M335I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sntg2	T	A	12: 30,357,230 (GRCm39)		probably null	Het
Spryd3	T	C	15: 102,027,354 (GRCm39)		probably benign	Het
Srpx	A	G	X: 9,933,662 (GRCm39)		probably null	Het
St8sia1	G	T	6: 142,909,504 (GRCm39)		probably benign	Het
Stab1	A	G	14: 30,865,470 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,000,047 (GRCm39)	S976R	probably benign	Het
Sycp2	T	A	2: 178,043,783 (GRCm39)	K108*	probably null	Het
Tagap1	T	C	17: 7,223,485 (GRCm39)	T404A	probably damaging	Het
Tg	C	T	15: 66,589,082 (GRCm39)	T21I	probably benign	Het
Tlr4	A	T	4: 66,759,202 (GRCm39)	Y665F	probably damaging	Het
Tmc8	T	G	11: 117,682,081 (GRCm39)	S525A	probably benign	Het
Tor4a	A	T	2: 25,084,810 (GRCm39)	D364E	probably benign	Het
Trim44	T	C	2: 102,211,253 (GRCm39)	I236V	probably benign	Het
Ube2o	A	G	11: 116,434,226 (GRCm39)		probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Xirp2	A	T	2: 67,347,300 (GRCm39)	R3180S	probably benign	Het
Zfp335	A	G	2: 164,735,724 (GRCm39)	C1077R	probably damaging	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
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
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

Posted On

2015-04-16