Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03089:Letm1'

418285

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Letm1

Ensembl Gene

ENSMUSG00000005299

Gene Name

leucine zipper-EF-hand containing transmembrane protein 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL03089

Quality Score

Status

Chromosome

Chromosomal Location

33739673-33782817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33760858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 314 (E314D)

Ref Sequence

ENSEMBL: ENSMUSP00000005431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005431]

AlphaFold

Q9Z2I0

Predicted Effect

probably damaging
Transcript: ENSMUST00000005431
AA Change: E314D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000005431
Gene: ENSMUSG00000005299
AA Change: E314D

Domain	Start	End	E-Value	Type
low complexity region	10	30	N/A	INTRINSIC
low complexity region	120	135	N/A	INTRINSIC
Pfam:LETM1	152	417	1.2e-111	PFAM
coiled coil region	445	493	N/A	INTRINSIC
low complexity region	503	513	N/A	INTRINSIC
coiled coil region	537	598	N/A	INTRINSIC
SCOP:d1c7va_	647	691	4e-3	SMART
coiled coil region	708	738	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131139

Predicted Effect

probably benign
Transcript: ENSMUST00000200827

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous deletion of this gene causes embryonic lethality prior to E6.5 while ~50% of heterozygotes die before E13.5. Surviving heterozygous mice show altered glucose metabolism, impaired control of brain ATP levels, and increased susceptibility to kainic acid-induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	G	3: 95,677,246 (GRCm38)	S947P	probably damaging	Het
Agl	T	A	3: 116,781,023 (GRCm38)	H709L	probably damaging	Het
Alpi	T	A	1: 87,100,108 (GRCm38)	D250V	probably benign	Het
Anapc4	A	G	5: 52,866,398 (GRCm38)	S735G	probably benign	Het
Ank1	A	T	8: 23,104,832 (GRCm38)	I611L	probably benign	Het
Canx	A	G	11: 50,304,482 (GRCm38)	V253A	possibly damaging	Het
Cbfa2t3	A	T	8: 122,635,134 (GRCm38)	I383N	probably damaging	Het
Cdc23	T	C	18: 34,634,460 (GRCm38)	Y519C	probably damaging	Het
Celsr3	T	A	9: 108,826,607 (GRCm38)	N96K	probably benign	Het
Clptm1	A	G	7: 19,637,147 (GRCm38)	Y355H	probably damaging	Het
Col6a5	C	T	9: 105,933,839 (GRCm38)	S827N	unknown	Het
Cyp21a1	G	T	17: 34,803,446 (GRCm38)		probably null	Het
Cyp24a1	T	G	2: 170,485,966 (GRCm38)	H452P	probably damaging	Het
Cyp2c39	T	A	19: 39,563,851 (GRCm38)	H329Q	probably benign	Het
D630003M21Rik	C	T	2: 158,216,744 (GRCm38)	R412Q	probably benign	Het
Dennd1b	G	A	1: 139,102,029 (GRCm38)	R308Q	possibly damaging	Het
Deup1	T	C	9: 15,607,800 (GRCm38)	S137G	possibly damaging	Het
Dmbt1	T	A	7: 131,111,049 (GRCm38)	I1583N	probably damaging	Het
Dvl1	G	A	4: 155,855,152 (GRCm38)	V320M	probably damaging	Het
Elmod3	A	G	6: 72,569,316 (GRCm38)	S254P	probably damaging	Het
Emsy	G	A	7: 98,637,266 (GRCm38)	Q226*	probably null	Het
Ephb6	C	A	6: 41,614,174 (GRCm38)	D88E	probably damaging	Het
Exoc1	A	G	5: 76,542,158 (GRCm38)	M182V	possibly damaging	Het
Fbxw4	T	G	19: 45,591,721 (GRCm38)		probably benign	Het
Fgr	A	G	4: 132,986,266 (GRCm38)	D35G	probably damaging	Het
Gm13078	A	G	4: 143,726,133 (GRCm38)	T45A	probably benign	Het
Gm20547	A	T	17: 34,861,032 (GRCm38)	D366E	probably damaging	Het
Gucy1a1	T	C	3: 82,097,681 (GRCm38)	N599S	probably damaging	Het
Ighg2b	G	A	12: 113,306,678 (GRCm38)	P240L	probably damaging	Het
Jak3	A	G	8: 71,686,083 (GRCm38)	D975G	probably benign	Het
Klhl26	A	T	8: 70,455,633 (GRCm38)	N24K	probably benign	Het
Lin54	A	T	5: 100,450,993 (GRCm38)	F319L	probably damaging	Het
Lrp5	A	T	19: 3,620,314 (GRCm38)		probably null	Het
Lvrn	T	C	18: 46,880,709 (GRCm38)	F486S	probably damaging	Het
Nov	C	T	15: 54,749,284 (GRCm38)	R230C	possibly damaging	Het
Olfr1218	T	C	2: 89,055,013 (GRCm38)	R138G	probably benign	Het
Olfr378	T	C	11: 73,425,183 (GRCm38)	T267A	probably benign	Het
Olfr631	A	C	7: 103,929,122 (GRCm38)	I100L	probably benign	Het
Olfr93	A	G	17: 37,151,643 (GRCm38)	C110R	probably damaging	Het
Olfr969	A	T	9: 39,795,681 (GRCm38)	Y102F	probably benign	Het
Sap30bp	T	A	11: 115,957,388 (GRCm38)	M112K	possibly damaging	Het
Sbno1	A	G	5: 124,387,311 (GRCm38)		probably benign	Het
Slc30a5	T	C	13: 100,813,830 (GRCm38)	I307V	probably benign	Het
Trim37	T	A	11: 87,190,137 (GRCm38)	D21E	probably damaging	Het
Usp34	T	C	11: 23,446,958 (GRCm38)	F614S	possibly damaging	Het
Usp39	A	C	6: 72,328,639 (GRCm38)	F387C	probably damaging	Het
Vipas39	C	T	12: 87,253,254 (GRCm38)	C149Y	probably damaging	Het
Vmn2r107	C	A	17: 20,375,712 (GRCm38)	H842Q	probably benign	Het
Vps18	T	A	2: 119,293,177 (GRCm38)	V195E	probably benign	Het
Vsx1	A	G	2: 150,685,590 (GRCm38)		probably benign	Het

Other mutations in Letm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Letm1	APN	5	33,762,590 (GRCm38)	missense	possibly damaging	0.82
IGL01073:Letm1	APN	5	33,748,800 (GRCm38)	missense	possibly damaging	0.89
IGL01882:Letm1	APN	5	33,769,665 (GRCm38)	missense	probably benign	0.00
IGL02186:Letm1	APN	5	33,745,047 (GRCm38)	missense	probably benign	0.00
IGL02699:Letm1	APN	5	33,745,148 (GRCm38)	missense	possibly damaging	0.93
R0466:Letm1	UTSW	5	33,761,730 (GRCm38)	splice site	probably benign
R0639:Letm1	UTSW	5	33,769,426 (GRCm38)	missense	possibly damaging	0.88
R1370:Letm1	UTSW	5	33,778,682 (GRCm38)	splice site	probably null
R1415:Letm1	UTSW	5	33,769,562 (GRCm38)	missense	probably benign	0.06
R1511:Letm1	UTSW	5	33,752,555 (GRCm38)	missense	probably damaging	1.00
R1714:Letm1	UTSW	5	33,760,884 (GRCm38)	missense	possibly damaging	0.51
R1771:Letm1	UTSW	5	33,769,467 (GRCm38)	missense	probably damaging	1.00
R1990:Letm1	UTSW	5	33,769,515 (GRCm38)	frame shift	probably null
R1991:Letm1	UTSW	5	33,769,515 (GRCm38)	frame shift	probably null
R2143:Letm1	UTSW	5	33,769,515 (GRCm38)	frame shift	probably null
R2145:Letm1	UTSW	5	33,769,515 (GRCm38)	frame shift	probably null
R2202:Letm1	UTSW	5	33,769,486 (GRCm38)	missense	possibly damaging	0.64
R2290:Letm1	UTSW	5	33,769,515 (GRCm38)	frame shift	probably null
R2292:Letm1	UTSW	5	33,769,515 (GRCm38)	frame shift	probably null
R5574:Letm1	UTSW	5	33,769,386 (GRCm38)	missense	possibly damaging	0.46
R6954:Letm1	UTSW	5	33,782,507 (GRCm38)	missense	probably benign	0.35
R7265:Letm1	UTSW	5	33,778,648 (GRCm38)	missense	possibly damaging	0.62
R8713:Letm1	UTSW	5	33,762,505 (GRCm38)	missense	probably damaging	1.00
R9028:Letm1	UTSW	5	33,752,503 (GRCm38)	missense	probably damaging	1.00
R9061:Letm1	UTSW	5	33,760,869 (GRCm38)	missense	probably damaging	1.00
R9420:Letm1	UTSW	5	33,769,458 (GRCm38)	missense	probably damaging	1.00
S24628:Letm1	UTSW	5	33,747,446 (GRCm38)	missense	probably benign
S24628:Letm1	UTSW	5	33,747,444 (GRCm38)	missense	probably benign	0.00
X0066:Letm1	UTSW	5	33,762,571 (GRCm38)	missense	probably damaging	1.00

Posted On

2016-08-02