Mutagenetix > Incidental Mutation

Incidental Mutation 'R0207:Letm2'

33398

Institutional Source

Beutler Lab

Gene Symbol

Letm2

Ensembl Gene

ENSMUSG00000037363

Gene Name

leucine zipper-EF-hand containing transmembrane protein 2

Synonyms

MMRRC Submission

038460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R0207 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

25578490-25597582 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25578770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 472 (N472I)

Ref Sequence

ENSEMBL: ENSMUSP00000078160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079160] [ENSMUST00000084027] [ENSMUST00000117179] [ENSMUST00000119398] [ENSMUST00000167764] [ENSMUST00000178276] [ENSMUST00000179592]

AlphaFold

Q7TNU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000079160
AA Change: N472I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078160
Gene: ENSMUSG00000037363
AA Change: N472I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000084027

SMART Domains

Protein: ENSMUSP00000081041
Gene: ENSMUSG00000031565

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	46	108	2.94e-10	SMART
low complexity region	124	138	N/A	INTRINSIC
IGc2	169	237	4.09e-9	SMART
IGc2	268	348	1.26e-9	SMART
transmembrane domain	375	397	N/A	INTRINSIC
low complexity region	439	453	N/A	INTRINSIC
TyrKc	478	754	1.51e-155	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117179

SMART Domains

Protein: ENSMUSP00000113909
Gene: ENSMUSG00000031565

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	46	108	2.94e-10	SMART
low complexity region	124	138	N/A	INTRINSIC
IGc2	167	235	4.09e-9	SMART
IGc2	266	346	1.26e-9	SMART
transmembrane domain	373	395	N/A	INTRINSIC
low complexity region	437	451	N/A	INTRINSIC
TyrKc	476	752	1.51e-155	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119398

SMART Domains

Protein: ENSMUSP00000113855
Gene: ENSMUSG00000031565

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	35	49	N/A	INTRINSIC
IGc2	80	148	4.09e-9	SMART
IGc2	179	259	1.26e-9	SMART
transmembrane domain	286	308	N/A	INTRINSIC
low complexity region	350	364	N/A	INTRINSIC
TyrKc	389	665	1.51e-155	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126118

Predicted Effect

probably benign
Transcript: ENSMUST00000167764

SMART Domains

Protein: ENSMUSP00000131343
Gene: ENSMUSG00000031565

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	35	49	N/A	INTRINSIC
IGc2	78	146	4.09e-9	SMART
IGc2	177	255	1.22e-7	SMART
transmembrane domain	286	308	N/A	INTRINSIC
low complexity region	350	364	N/A	INTRINSIC
TyrKc	389	665	1.51e-155	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178276

SMART Domains

Protein: ENSMUSP00000137515
Gene: ENSMUSG00000031565

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	35	49	N/A	INTRINSIC
IGc2	78	146	4.09e-9	SMART
IGc2	177	255	1.22e-7	SMART
transmembrane domain	286	308	N/A	INTRINSIC
low complexity region	350	364	N/A	INTRINSIC
TyrKc	389	665	1.51e-155	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179592

SMART Domains

Protein: ENSMUSP00000136640
Gene: ENSMUSG00000031565

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IGc2	59	121	2.94e-10	SMART
low complexity region	137	151	N/A	INTRINSIC
IGc2	180	248	4.09e-9	SMART
IGc2	279	359	1.26e-9	SMART
transmembrane domain	386	408	N/A	INTRINSIC
low complexity region	450	464	N/A	INTRINSIC
TyrKc	489	765	1.51e-155	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211133

Meta Mutation Damage Score

0.0705

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.5%

Validation Efficiency

95% (76/80)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,086,039	F488S	probably damaging	Het
Acap3	C	T	4: 155,899,424	R116W	probably damaging	Het
Adamts10	C	A	17: 33,545,390	P663T	possibly damaging	Het
Akap12	G	A	10: 4,353,333	G48S	probably damaging	Het
Ankrd7	T	A	6: 18,870,031	M261K	probably benign	Het
Ankzf1	C	A	1: 75,198,304	D599E	possibly damaging	Het
Aox1	T	C	1: 58,105,014	I1278T	possibly damaging	Het
Apcdd1	T	C	18: 62,950,079	Y327H	probably benign	Het
Asxl3	T	A	18: 22,411,496		probably benign	Het
Birc6	C	A	17: 74,662,832		probably benign	Het
Btaf1	T	A	19: 37,009,648	L1714*	probably null	Het
Cacng6	T	A	7: 3,425,004		probably benign	Het
Cdc20b	A	G	13: 113,078,612	D238G	probably damaging	Het
Celf5	T	A	10: 81,470,698	R113W	probably null	Het
Cfap70	C	A	14: 20,412,347	E659D	probably damaging	Het
Clspn	T	A	4: 126,590,598	M1183K	possibly damaging	Het
Dpy19l1	G	A	9: 24,453,891	R275C	probably damaging	Het
Dst	C	T	1: 34,186,935	S1721L	probably benign	Het
Faap100	T	C	11: 120,374,365	T562A	probably damaging	Het
Fam168b	T	C	1: 34,819,688	M133V	probably damaging	Het
Farp2	T	C	1: 93,569,087	I172T	probably damaging	Het
Fer	T	G	17: 63,896,278	S68A	probably damaging	Het
Fmo5	A	G	3: 97,645,681	E315G	probably damaging	Het
Gpr89	A	T	3: 96,871,480	F426I	probably damaging	Het
Hinfp	T	C	9: 44,296,327	I461V	possibly damaging	Het
Hsd11b1	A	T	1: 193,240,248	V167D	probably damaging	Het
Htt	A	G	5: 34,896,908	K2574E	probably benign	Het
I830077J02Rik	A	G	3: 105,926,505	S112P	probably benign	Het
Igf2bp3	T	A	6: 49,105,617	M344L	probably benign	Het
Itch	A	T	2: 155,202,257	Q494L	probably benign	Het
Itga9	T	C	9: 118,769,253		probably benign	Het
Jaml	T	A	9: 45,093,767	D152E	probably benign	Het
Kif22	A	C	7: 127,042,400	M1R	probably null	Het
Kifap3	T	C	1: 163,883,386	Y663H	probably benign	Het
Mthfr	T	G	4: 148,052,224	V446G	probably damaging	Het
Myh11	T	C	16: 14,211,260	E1206G	possibly damaging	Het
Myo6	G	A	9: 80,288,056	V903I	probably damaging	Het
Myo9b	C	T	8: 71,355,225		probably benign	Het
Nr2f2	G	C	7: 70,360,175	P52R	probably damaging	Het
Nsd3	A	G	8: 25,683,257	N859S	probably benign	Het
Nucb2	C	A	7: 116,536,010	A384E	probably damaging	Het
Ogdhl	C	A	14: 32,342,037		probably null	Het
Olfr119	C	A	17: 37,701,058	C129*	probably null	Het
Olfr1247	G	A	2: 89,609,863	L80F	probably damaging	Het
Olfr1357	T	C	10: 78,611,871	T257A	probably benign	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr381	A	T	11: 73,486,575	L83Q	probably benign	Het
Parp10	C	T	15: 76,242,633	S145N	probably benign	Het
Pigh	A	G	12: 79,083,709		probably benign	Het
Pigo	A	G	4: 43,023,824		probably benign	Het
Pkp4	T	A	2: 59,305,488	V199D	possibly damaging	Het
Polr1e	C	A	4: 45,025,143		probably null	Het
Ppfia3	C	A	7: 45,348,534	R723L	probably damaging	Het
Prex1	C	A	2: 166,585,898	A945S	possibly damaging	Het
Prrt3	A	T	6: 113,495,840	V457E	probably damaging	Het
Rab39	A	G	9: 53,705,971	F49L	possibly damaging	Het
Rrs1	C	A	1: 9,545,762		probably null	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Serpinb3c	T	C	1: 107,276,992	D8G	probably benign	Het
Slc17a6	A	G	7: 51,646,180		probably benign	Het
Slc24a4	T	A	12: 102,228,951		probably null	Het
Smc1b	C	T	15: 85,123,759	M272I	probably benign	Het
Smc6	T	C	12: 11,283,178		probably benign	Het
Tcf20	T	C	15: 82,855,085	T722A	probably benign	Het
Tesmin	A	T	19: 3,404,088	M141L	probably benign	Het
Tmprss5	T	A	9: 49,113,160	H274Q	possibly damaging	Het
Tns1	C	T	1: 73,937,318		probably null	Het
Tpr	T	C	1: 150,417,427	S868P	possibly damaging	Het
Trank1	C	T	9: 111,366,253	T1115I	probably damaging	Het
Trmt44	A	T	5: 35,572,917	I203K	possibly damaging	Het
Ulk2	A	T	11: 61,777,785	V1037E	probably benign	Het
Usp43	A	G	11: 67,876,499	Y682H	probably damaging	Het
Vipr2	A	T	12: 116,142,882	Q366L	probably damaging	Het
Vmn1r185	C	A	7: 26,611,589	V164L	possibly damaging	Het
Vmn2r120	C	T	17: 57,525,052	V246I	probably benign	Het
Wdr66	T	C	5: 123,283,447	V182A	probably damaging	Het
Wiz	C	T	17: 32,357,033	G790R	probably damaging	Het
Wnk1	A	T	6: 119,952,733	S1016R	probably damaging	Het
Zc3hav1	A	G	6: 38,311,174	L909S	probably benign	Het
Zfp236	T	A	18: 82,640,227	I637F	probably damaging	Het
Zfp788	G	A	7: 41,649,596	G532D	probably damaging	Het
Zranb1	T	C	7: 132,950,385	I255T	probably damaging	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
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
R5069:Letm2	UTSW	8	25593964	nonsense	probably null
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'- CCTCCAACGACTTAATGGCTGATCC -3'
(R):5'- TAGGCTCATCTGTGATCCTGTGGC -3'

Sequencing Primer
(F):5'- TGATCCTTTATCTCAAGCCAGACAG -3'
(R):5'- gttctacttcctcaccagcc -3'

Posted On

2013-05-09