Mutagenetix > Incidental Mutation

Incidental Mutation 'R8356:Letm2'

645781

Institutional Source

Beutler Lab

Gene Symbol

Letm2

Ensembl Gene

ENSMUSG00000037363

Gene Name

leucine zipper-EF-hand containing transmembrane protein 2

Synonyms

D030041N04Rik

MMRRC Submission

067870-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R8356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26068506-26087598 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26071729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 391 (D391G)

Ref Sequence

ENSEMBL: ENSMUSP00000078160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079160]

AlphaFold

Q7TNU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000079160
AA Change: D391G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078160
Gene: ENSMUSG00000037363
AA Change: D391G

Domain	Start	End	E-Value	Type
low complexity region	106	117	N/A	INTRINSIC
Pfam:LETM1	120	384	1.2e-102	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211133

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,842,360 (GRCm39)	E1098G	probably benign	Het
Akap1	T	A	11: 88,725,557 (GRCm39)		probably null	Het
Arhgap26	T	C	18: 39,244,901 (GRCm39)	V182A	possibly damaging	Het
Arhgef19	A	G	4: 140,977,926 (GRCm39)	K545R	probably benign	Het
Asph	C	T	4: 9,537,722 (GRCm39)	R352Q	probably benign	Het
B3glct	T	A	5: 149,650,254 (GRCm39)	I119N	probably damaging	Het
Bltp3b	A	G	10: 89,647,954 (GRCm39)	T1339A	probably benign	Het
Camsap3	C	T	8: 3,650,679 (GRCm39)	R236*	probably null	Het
Ccser2	A	T	14: 36,612,331 (GRCm39)	M792K	probably benign	Het
Ceacam5	C	T	7: 17,479,624 (GRCm39)	T247I	possibly damaging	Het
Dnah9	A	G	11: 66,047,764 (GRCm39)	S19P	probably damaging	Het
Dtwd1	A	G	2: 126,000,451 (GRCm39)	E129G	probably damaging	Het
Ebf3	T	A	7: 136,800,916 (GRCm39)	M490L	probably benign	Het
Erbb4	A	G	1: 68,110,789 (GRCm39)	L1008S	probably damaging	Het
Ereg	C	T	5: 91,237,993 (GRCm39)	P160S	possibly damaging	Het
Exoc6b	ATTT	ATTTT	6: 84,821,077 (GRCm39)		probably null	Het
Fmn1	A	G	2: 113,195,385 (GRCm39)	T362A	unknown	Het
Gm14326	A	T	2: 177,590,312 (GRCm39)	D16E	probably benign	Het
H1f8	A	T	6: 115,925,745 (GRCm39)	M181L	probably benign	Het
H3c1	A	T	13: 23,946,083 (GRCm39)	F85Y	probably damaging	Het
Herc6	A	T	6: 57,575,548 (GRCm39)	T190S	probably benign	Het
Lama1	T	G	17: 68,044,491 (GRCm39)	I130S		Het
Map3k9	T	C	12: 81,780,892 (GRCm39)	I423V	probably damaging	Het
Melk	T	A	4: 44,312,191 (GRCm39)	C168S	possibly damaging	Het
Muc4	CAC	CACTAC	16: 32,575,367 (GRCm39)		probably benign	Het
Naa16	A	T	14: 79,596,915 (GRCm39)	N356K	probably benign	Het
Nup214	A	G	2: 31,929,372 (GRCm39)	N1873S	probably benign	Het
Or2y1f	C	T	11: 49,184,385 (GRCm39)	P79L	probably damaging	Het
Or8b41	T	A	9: 38,054,981 (GRCm39)	C178*	probably null	Het
Pom121	A	G	5: 135,410,032 (GRCm39)	F1042L	unknown	Het
Pramel51	T	A	12: 88,143,986 (GRCm39)	T284S	probably benign	Het
Pxdn	T	C	12: 30,061,889 (GRCm39)	S1334P	probably damaging	Het
Ranbp1	C	T	16: 18,063,170 (GRCm39)	E69K	probably damaging	Het
Rasl11a	T	C	5: 146,782,045 (GRCm39)	S7P	probably damaging	Het
Rev1	G	A	1: 38,098,324 (GRCm39)	R740*	probably null	Het
Rnf157	C	T	11: 116,240,246 (GRCm39)	V443M	probably benign	Het
Scn3a	T	A	2: 65,291,017 (GRCm39)	T1910S	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Siah2	T	C	3: 58,583,503 (GRCm39)	N261S	probably benign	Het
Sumf2	T	G	5: 129,889,003 (GRCm39)	W264G	possibly damaging	Het
Tal1	G	T	4: 114,920,625 (GRCm39)	A100S	probably benign	Het
Tox2	G	T	2: 163,046,550 (GRCm39)	R9L	unknown	Het
Traj46	A	G	14: 54,409,795 (GRCm39)	E1G		Het
Unc80	A	G	1: 66,680,788 (GRCm39)	D2128G	possibly damaging	Het
Usp21	A	T	1: 171,112,290 (GRCm39)	F308I	probably damaging	Het
Vgf	A	T	5: 137,061,265 (GRCm39)	I476F	probably damaging	Het
Vmn1r142	T	A	7: 21,862,748 (GRCm39)	H238L	probably benign	Het
Vps35	G	A	8: 85,987,934 (GRCm39)	T739I	possibly damaging	Het
Wdr95	G	T	5: 149,502,572 (GRCm39)	C279F	probably damaging	Het
Zbtb32	T	C	7: 30,289,381 (GRCm39)	S94G	unknown	Het
Zdhhc13	T	A	7: 48,452,747 (GRCm39)	I153N	probably damaging	Het

Other mutations in Letm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02738:Letm2	APN	8	26,076,789 (GRCm39)	missense	probably damaging	1.00
selbstlob	UTSW	8	26,083,977 (GRCm39)	missense	probably benign	0.03
IGL03098:Letm2	UTSW	8	26,071,745 (GRCm39)	missense	possibly damaging	0.73
R0062:Letm2	UTSW	8	26,077,464 (GRCm39)	splice site	probably benign
R0062:Letm2	UTSW	8	26,077,464 (GRCm39)	splice site	probably benign
R0207:Letm2	UTSW	8	26,068,786 (GRCm39)	missense	probably damaging	0.96
R0485:Letm2	UTSW	8	26,082,574 (GRCm39)	missense	probably damaging	1.00
R1869:Letm2	UTSW	8	26,071,729 (GRCm39)	missense	probably damaging	0.98
R1870:Letm2	UTSW	8	26,086,460 (GRCm39)	splice site	probably benign
R1871:Letm2	UTSW	8	26,086,460 (GRCm39)	splice site	probably benign
R3881:Letm2	UTSW	8	26,083,884 (GRCm39)	nonsense	probably null
R4115:Letm2	UTSW	8	26,070,343 (GRCm39)	nonsense	probably null
R4459:Letm2	UTSW	8	26,076,715 (GRCm39)	missense	probably damaging	1.00
R4461:Letm2	UTSW	8	26,076,715 (GRCm39)	missense	probably damaging	1.00
R4961:Letm2	UTSW	8	26,084,108 (GRCm39)	missense	possibly damaging	0.86
R5063:Letm2	UTSW	8	26,071,795 (GRCm39)	missense	probably benign	0.26
R5069:Letm2	UTSW	8	26,083,980 (GRCm39)	nonsense	probably null
R5732:Letm2	UTSW	8	26,077,341 (GRCm39)	missense	possibly damaging	0.51
R6527:Letm2	UTSW	8	26,082,522 (GRCm39)	utr 3 prime	probably benign
R6706:Letm2	UTSW	8	26,083,977 (GRCm39)	missense	probably benign	0.03
R7624:Letm2	UTSW	8	26,082,553 (GRCm39)	nonsense	probably null
R7968:Letm2	UTSW	8	26,083,766 (GRCm39)	missense	probably damaging	1.00
R8272:Letm2	UTSW	8	26,076,672 (GRCm39)	missense	probably damaging	1.00
R8456:Letm2	UTSW	8	26,071,729 (GRCm39)	missense	probably damaging	0.98
R8481:Letm2	UTSW	8	26,070,375 (GRCm39)	missense	possibly damaging	0.86
R9023:Letm2	UTSW	8	26,077,236 (GRCm39)	missense
R9234:Letm2	UTSW	8	26,084,102 (GRCm39)	missense	probably benign	0.03
R9366:Letm2	UTSW	8	26,084,165 (GRCm39)	missense	probably damaging	1.00
R9636:Letm2	UTSW	8	26,083,719 (GRCm39)	missense	probably benign	0.33
R9690:Letm2	UTSW	8	26,077,435 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTTGGAAAGAAAAGGAGCCATT -3'
(R):5'- GCCAGAGGTTATCATCAGTGTG -3'

Sequencing Primer
(F):5'- AGATTCCCAAAGCAGTGC -3'
(R):5'- ATCATCAGTGTGCTCTGGGAAC -3'

Posted On

2020-09-02