Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Letm2'

388548

Institutional Source

Beutler Lab

Gene Symbol

Letm2

Ensembl Gene

ENSMUSG00000037363

Gene Name

leucine zipper-EF-hand containing transmembrane protein 2

Synonyms

MMRRC Submission

042659-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25578490-25597582 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 25593964 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 84 (Q84*)

Ref Sequence

ENSEMBL: ENSMUSP00000147507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079160] [ENSMUST00000210234] [ENSMUST00000210616] [ENSMUST00000210810] [ENSMUST00000211422]

AlphaFold

Q7TNU7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000059474

Predicted Effect

probably null
Transcript: ENSMUST00000079160
AA Change: Q84*

SMART Domains

Protein: ENSMUSP00000078160
Gene: ENSMUSG00000037363
AA Change: Q84*

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: ENSMUST00000209734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210221

Predicted Effect

probably null
Transcript: ENSMUST00000210234
AA Change: Q84*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210582

Predicted Effect

probably null
Transcript: ENSMUST00000210616
AA Change: Q84*

Predicted Effect

probably null
Transcript: ENSMUST00000210810
AA Change: Q84*

Predicted Effect

probably null
Transcript: ENSMUST00000211422
AA Change: Q84*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210914

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
9330182L06Rik	T	A	5: 9,440,897	C636S	probably damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Adcy7	T	C	8: 88,327,697	L1060P	probably damaging	Het
Aff3	A	G	1: 38,181,613		probably null	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Ankrd27	A	T	7: 35,628,435	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,075,206	T90A	probably damaging	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Ass1	C	T	2: 31,510,173	T301M	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
BC055324	T	C	1: 163,987,674	T93A	possibly damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cdh3	A	G	8: 106,536,826	N126S	probably benign	Het
Cfap54	A	C	10: 92,937,774	F135L	probably benign	Het
Dlg1	G	T	16: 31,684,295		probably null	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm1043	T	G	5: 37,187,236	L231R	probably damaging	Het
Gm13178	T	A	4: 144,703,867	D184V	probably damaging	Het
Gm14085	A	T	2: 122,494,373	N142I	possibly damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gpr153	T	A	4: 152,279,883	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,354,647	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,676,727		probably null	Het
Kat6a	G	A	8: 22,903,133	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,104,637	V178D	probably damaging	Het
Krt75	A	G	15: 101,566,238		probably null	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Muc6	A	G	7: 141,651,299	C218R	probably damaging	Het
Myof	A	T	19: 37,905,325	I1130N	possibly damaging	Het
Neil3	A	G	8: 53,601,041	S318P	possibly damaging	Het
Nhlh1	A	G	1: 172,053,900	V133A	probably benign	Het
Nup153	A	C	13: 46,709,792	S331A	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pald1	A	T	10: 61,341,246	M675K	possibly damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,111,140	A897V	probably benign	Het
Plxnd1	A	T	6: 115,965,901	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,736,735		probably null	Het
Ppfia1	G	A	7: 144,514,473	Q446*	probably null	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rhbdl2	T	A	4: 123,817,917	L149*	probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rtel1	G	A	2: 181,355,492	V1042M	probably benign	Het
Sidt2	A	T	9: 45,939,461		probably null	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc4a10	G	A	2: 62,267,571	R508H	probably benign	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slf2	T	A	19: 44,935,253	S169T	possibly damaging	Het
Snx33	A	T	9: 56,926,191	I198N	probably damaging	Het
Spock3	A	G	8: 63,355,265	T396A	probably benign	Het
Sva	A	T	6: 42,038,417		probably benign	Het
Syt7	A	G	19: 10,439,237	N261S	probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Thoc2	C	T	X: 41,806,693	E1491K	probably damaging	Het
Tlr1	T	C	5: 64,926,400	Y278C	probably benign	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Trpm4	T	G	7: 45,310,469	Y667S	probably damaging	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,940,089	H709R	probably damaging	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wars2	A	G	3: 99,187,533	H48R	probably damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	Het

Other mutations in Letm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02738:Letm2	APN	8	25586773	missense	probably damaging	1.00
selbstlob	UTSW	8	25593961	missense	probably benign	0.03
IGL03098:Letm2	UTSW	8	25581729	missense	possibly damaging	0.73
R0062:Letm2	UTSW	8	25587448	splice site	probably benign
R0062:Letm2	UTSW	8	25587448	splice site	probably benign
R0207:Letm2	UTSW	8	25578770	missense	probably damaging	0.96
R0485:Letm2	UTSW	8	25592558	missense	probably damaging	1.00
R1869:Letm2	UTSW	8	25581713	missense	probably damaging	0.98
R1870:Letm2	UTSW	8	25596444	splice site	probably benign
R1871:Letm2	UTSW	8	25596444	splice site	probably benign
R3881:Letm2	UTSW	8	25593868	nonsense	probably null
R4115:Letm2	UTSW	8	25580327	nonsense	probably null
R4459:Letm2	UTSW	8	25586699	missense	probably damaging	1.00
R4461:Letm2	UTSW	8	25586699	missense	probably damaging	1.00
R4961:Letm2	UTSW	8	25594092	missense	possibly damaging	0.86
R5063:Letm2	UTSW	8	25581779	missense	probably benign	0.26
R5732:Letm2	UTSW	8	25587325	missense	possibly damaging	0.51
R6527:Letm2	UTSW	8	25592506	utr 3 prime	probably benign
R6706:Letm2	UTSW	8	25593961	missense	probably benign	0.03
R7624:Letm2	UTSW	8	25592537	nonsense	probably null
R7968:Letm2	UTSW	8	25593750	missense	probably damaging	1.00
R8272:Letm2	UTSW	8	25586656	missense	probably damaging	1.00
R8356:Letm2	UTSW	8	25581713	missense	probably damaging	0.98
R8456:Letm2	UTSW	8	25581713	missense	probably damaging	0.98
R8481:Letm2	UTSW	8	25580359	missense	possibly damaging	0.86
R9023:Letm2	UTSW	8	25587220	missense
R9234:Letm2	UTSW	8	25594086	missense	probably benign	0.03
R9366:Letm2	UTSW	8	25594149	missense	probably damaging	1.00
R9636:Letm2	UTSW	8	25593703	missense	probably benign	0.33
R9690:Letm2	UTSW	8	25587419	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTCCACACTATTCTGGCAG -3'
(R):5'- TGCCTGGCCATTCTGTGTAC -3'

Sequencing Primer
(F):5'- GCAGCGACTTTGGTGTCAATCC -3'
(R):5'- GGCCATTCTGTGTACCCTTC -3'

Posted On

2016-06-06