Mutagenetix > Incidental Mutation

Incidental Mutation 'R8713:Letm1'

669700

Institutional Source

Beutler Lab

Gene Symbol

Letm1

Ensembl Gene

ENSMUSG00000005299

Gene Name

leucine zipper-EF-hand containing transmembrane protein 1

Synonyms

MMRRC Submission

068567-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R8713 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33897017-33940061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33919849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 230 (L230P)

Ref Sequence

ENSEMBL: ENSMUSP00000005431 (fasta)

Gene Model

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

AlphaFold

Q9Z2I0

Predicted Effect

probably damaging
Transcript: ENSMUST00000005431
AA Change: L230P

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

SMART Domains

Protein: ENSMUSP00000005431
Gene: ENSMUSG00000005299
AA Change: L230P

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

probably benign
Transcript: ENSMUST00000200827

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 36,030,518 (GRCm39)	A581V	possibly damaging	Het
Adam18	T	A	8: 25,142,189 (GRCm39)	M196L	probably benign	Het
Ankrd10	A	G	8: 11,678,491 (GRCm39)	S134P	probably damaging	Het
Ano8	C	T	8: 71,937,721 (GRCm39)	G47D	probably damaging	Het
Arl6ip4	T	C	5: 124,254,825 (GRCm39)	V4A	unknown	Het
Cabp4	C	T	19: 4,186,159 (GRCm39)	M247I	probably benign	Het
Ccdc30	A	T	4: 119,261,404 (GRCm39)	L11Q	probably damaging	Het
Cdkl4	A	G	17: 80,841,292 (GRCm39)	S288P	possibly damaging	Het
Celsr3	A	G	9: 108,707,062 (GRCm39)	I1182V	probably benign	Het
Dnah17	T	C	11: 117,979,028 (GRCm39)	D1788G	probably damaging	Het
Dsp	A	G	13: 38,352,701 (GRCm39)	D193G	probably damaging	Het
Dym	T	G	18: 75,189,809 (GRCm39)	Y132*	probably null	Het
Dync2h1	G	A	9: 7,141,008 (GRCm39)	Q1340*	probably null	Het
Elmo1	T	C	13: 20,458,791 (GRCm39)		probably benign	Het
Fbxw15	A	C	9: 109,384,667 (GRCm39)	F378V	possibly damaging	Het
Fsip2	G	A	2: 82,811,453 (GRCm39)	G2591R	probably damaging	Het
Gps2	C	A	11: 69,806,180 (GRCm39)	D148E	probably benign	Het
Iars2	T	C	1: 185,023,615 (GRCm39)	D772G	possibly damaging	Het
Ifit1	T	A	19: 34,625,038 (GRCm39)	L58Q	probably benign	Het
Kctd4	A	T	14: 76,200,366 (GRCm39)	Q112H	probably benign	Het
Lrch4	G	T	5: 137,638,125 (GRCm39)	E136*	probably null	Het
Macc1	T	C	12: 119,407,261 (GRCm39)		probably benign	Het
Macrod1	T	C	19: 7,034,494 (GRCm39)	L79P	probably benign	Het
Map2	T	A	1: 66,453,781 (GRCm39)	N890K	probably damaging	Het
Mctp1	G	A	13: 76,789,922 (GRCm39)	S270N	probably benign	Het
Mrpl44	C	T	1: 79,755,708 (GRCm39)	R105C	probably damaging	Het
Mtg1	T	A	7: 139,717,688 (GRCm39)		probably null	Het
Mtg1	T	C	7: 139,720,136 (GRCm39)	F68L	probably benign	Het
Nfil3	A	G	13: 53,122,047 (GRCm39)	S286P	possibly damaging	Het
Nutm1	A	G	2: 112,081,667 (GRCm39)	V332A	possibly damaging	Het
Obscn	T	A	11: 59,026,792 (GRCm39)	Q137L	probably benign	Het
Pcnx2	T	G	8: 126,545,525 (GRCm39)	E1162A	probably damaging	Het
Pgr	A	G	9: 8,900,818 (GRCm39)	D117G	possibly damaging	Het
Plce1	T	C	19: 38,513,345 (GRCm39)	C215R	probably benign	Het
Rrm1	T	G	7: 102,109,558 (GRCm39)	Y461D	probably damaging	Het
Sbk3	C	T	7: 4,972,991 (GRCm39)	V60I	possibly damaging	Het
Scube1	G	T	15: 83,494,471 (GRCm39)	A852E	possibly damaging	Het
Sec24d	T	A	3: 123,137,541 (GRCm39)	I561N	probably damaging	Het
Slc16a4	T	C	3: 107,218,901 (GRCm39)	*501Q	probably null	Het
Slc6a19	C	A	13: 73,848,740 (GRCm39)	V5L	probably benign	Het
Spryd3	A	G	15: 102,041,920 (GRCm39)	I34T	possibly damaging	Het
Syne1	A	G	10: 5,266,040 (GRCm39)	L2191P	probably damaging	Het
Tbrg1	A	G	9: 37,563,955 (GRCm39)	C227R	probably damaging	Het
Tdrd6	A	G	17: 43,935,910 (GRCm39)	S1713P	probably benign	Het
Thap12	C	T	7: 98,356,283 (GRCm39)	L57F	probably benign	Het
Top1	G	A	2: 160,559,360 (GRCm39)	V628I	probably damaging	Het
Trim67	A	G	8: 125,547,074 (GRCm39)	M495V	probably null	Het
Trio	A	C	15: 27,744,037 (GRCm39)		probably benign	Het
Vmn2r23	A	T	6: 123,679,991 (GRCm39)	Y71F		Het
Ywhah	A	G	5: 33,184,535 (GRCm39)	N246S	probably benign	Het
Zcwpw1	T	C	5: 137,797,794 (GRCm39)	I125T	probably benign	Het

Other mutations in Letm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Letm1	APN	5	33,919,934 (GRCm39)	missense	possibly damaging	0.82
IGL01073:Letm1	APN	5	33,906,144 (GRCm39)	missense	possibly damaging	0.89
IGL01882:Letm1	APN	5	33,927,009 (GRCm39)	missense	probably benign	0.00
IGL02186:Letm1	APN	5	33,902,391 (GRCm39)	missense	probably benign	0.00
IGL02699:Letm1	APN	5	33,902,492 (GRCm39)	missense	possibly damaging	0.93
IGL03089:Letm1	APN	5	33,918,202 (GRCm39)	missense	probably damaging	1.00
R0466:Letm1	UTSW	5	33,919,074 (GRCm39)	splice site	probably benign
R0639:Letm1	UTSW	5	33,926,770 (GRCm39)	missense	possibly damaging	0.88
R1370:Letm1	UTSW	5	33,936,026 (GRCm39)	splice site	probably null
R1415:Letm1	UTSW	5	33,926,906 (GRCm39)	missense	probably benign	0.06
R1511:Letm1	UTSW	5	33,909,899 (GRCm39)	missense	probably damaging	1.00
R1714:Letm1	UTSW	5	33,918,228 (GRCm39)	missense	possibly damaging	0.51
R1771:Letm1	UTSW	5	33,926,811 (GRCm39)	missense	probably damaging	1.00
R1990:Letm1	UTSW	5	33,926,859 (GRCm39)	frame shift	probably null
R1991:Letm1	UTSW	5	33,926,859 (GRCm39)	frame shift	probably null
R2143:Letm1	UTSW	5	33,926,859 (GRCm39)	frame shift	probably null
R2145:Letm1	UTSW	5	33,926,859 (GRCm39)	frame shift	probably null
R2202:Letm1	UTSW	5	33,926,830 (GRCm39)	missense	possibly damaging	0.64
R2290:Letm1	UTSW	5	33,926,859 (GRCm39)	frame shift	probably null
R2292:Letm1	UTSW	5	33,926,859 (GRCm39)	frame shift	probably null
R5574:Letm1	UTSW	5	33,926,730 (GRCm39)	missense	possibly damaging	0.46
R6954:Letm1	UTSW	5	33,939,851 (GRCm39)	missense	probably benign	0.35
R7265:Letm1	UTSW	5	33,935,992 (GRCm39)	missense	possibly damaging	0.62
R9028:Letm1	UTSW	5	33,909,847 (GRCm39)	missense	probably damaging	1.00
R9061:Letm1	UTSW	5	33,918,213 (GRCm39)	missense	probably damaging	1.00
R9420:Letm1	UTSW	5	33,926,802 (GRCm39)	missense	probably damaging	1.00
S24628:Letm1	UTSW	5	33,904,790 (GRCm39)	missense	probably benign
S24628:Letm1	UTSW	5	33,904,788 (GRCm39)	missense	probably benign	0.00
X0066:Letm1	UTSW	5	33,919,915 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGAATCCCTAGCCCTACC -3'
(R):5'- TCACCATGTTGCTCAGTTTGTAG -3'

Sequencing Primer
(F):5'- GATCAGAGGATACCTTGGTCCTTAC -3'
(R):5'- TTTGTAGTGAGGGTGGGAGAAATACC -3'

Posted On

2021-04-30