Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00743:Lrrtm3'

11860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrtm3

Ensembl Gene

ENSMUSG00000042846

Gene Name

leucine rich repeat transmembrane neuronal 3

Synonyms

9630044H04Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00743

Quality Score

Status

Chromosome

Chromosomal Location

63928472-64090277 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64089209 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 60 (S60T)

Ref Sequence

ENSEMBL: ENSMUSP00000101079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075099] [ENSMUST00000105439] [ENSMUST00000105440] [ENSMUST00000105441]

Predicted Effect

probably benign
Transcript: ENSMUST00000075099

SMART Domains

Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843

Domain	Start	End	E-Value	Type
Pfam:Vinculin	17	363	5.1e-66	PFAM
Pfam:Vinculin	324	856	1e-175	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105439
AA Change: S60T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101079
Gene: ENSMUSG00000042846
AA Change: S60T

Domain	Start	End	E-Value	Type
low complexity region	13	27	N/A	INTRINSIC
LRRNT	33	65	2.11e-3	SMART
LRR_TYP	84	107	2.09e-3	SMART
LRR	108	131	6.77e0	SMART
LRR_TYP	132	155	2.71e-2	SMART
LRR_TYP	156	179	1.47e-3	SMART
LRR	180	203	1.43e-1	SMART
LRR	204	227	1.29e1	SMART
LRR	228	251	2.14e1	SMART
LRR	252	276	1.45e1	SMART
LRR	277	300	2.02e-1	SMART
Blast:LRRCT	312	361	6e-16	BLAST
transmembrane domain	421	443	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105440

SMART Domains

Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843

Domain	Start	End	E-Value	Type
Pfam:Vinculin	17	363	5.1e-66	PFAM
Pfam:Vinculin	324	856	1e-175	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105441

SMART Domains

Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843

Domain	Start	End	E-Value	Type
Pfam:Vinculin	17	363	5.1e-66	PFAM
Pfam:Vinculin	324	856	1e-175	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133588

SMART Domains

Protein: ENSMUSP00000114794
Gene: ENSMUSG00000042846

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
LRRNT	40	72	2.11e-3	SMART
LRR_TYP	91	114	2.09e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148712

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,619,686	E659G	probably benign	Het
Adgrg6	A	C	10: 14,535,959		probably benign	Het
Als2cl	A	G	9: 110,889,159	K323E	possibly damaging	Het
Atm	A	C	9: 53,513,116	S628R	probably benign	Het
Baz2a	T	C	10: 128,114,526	V443A	probably benign	Het
Bclaf3	T	A	X: 159,558,361	F545Y	probably benign	Het
Calcr	T	C	6: 3,717,196	Y88C	probably damaging	Het
Ccdc178	C	T	18: 22,145,444		probably benign	Het
Cdh20	A	G	1: 104,947,428	T312A	probably benign	Het
Chrnd	G	A	1: 87,192,927	W91*	probably null	Het
Cntln	T	C	4: 84,979,415	F413S	probably benign	Het
Ctsq	A	T	13: 61,036,184	I308N	probably damaging	Het
Cyp2d34	A	T	15: 82,617,535	V258D	probably damaging	Het
Dnajc13	G	A	9: 104,162,780	P2044S	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Hps6	A	T	19: 46,003,660	D12V	probably damaging	Het
Hpse	T	C	5: 100,698,999	D188G	probably benign	Het
Id2	C	A	12: 25,095,356	E123*	probably null	Het
Ints10	C	T	8: 68,819,333	P562L	probably damaging	Het
Kctd10	G	A	5: 114,367,349	R195C	probably damaging	Het
Kel	A	C	6: 41,688,575	L537R	probably damaging	Het
Kif19a	T	C	11: 114,784,773	V357A	probably damaging	Het
Myof	C	A	19: 37,960,934	R608L	probably benign	Het
Naa35	A	T	13: 59,630,671	I669F	probably benign	Het
Olfr968	A	G	9: 39,772,111	S230P	possibly damaging	Het
Olfr971	A	T	9: 39,839,706	I91F	probably benign	Het
Pclo	G	T	5: 14,678,021		probably benign	Het
Pik3c3	C	T	18: 30,274,364	S55F	probably damaging	Het
Prdm6	T	G	18: 53,540,228	D153E	possibly damaging	Het
Rnf183	T	C	4: 62,428,373	T63A	probably benign	Het
Samd4b	A	C	7: 28,401,877	I108S	probably damaging	Het
Slc9a7	T	C	X: 20,106,021	D708G	possibly damaging	Het
Stim2	A	G	5: 54,053,493	D90G	probably benign	Het
Tmem52b	A	G	6: 129,516,715	D97G	probably damaging	Het
Tnfsf15	T	C	4: 63,734,281	R98G	probably benign	Het
Uxs1	C	T	1: 43,757,013	V310I	probably benign	Het
Vcan	A	C	13: 89,725,306	M143R	probably damaging	Het
Vmn2r93	T	C	17: 18,326,242	F792S	probably damaging	Het
Zfp455	T	C	13: 67,207,898	I345T	probably benign	Het
Zfp938	A	T	10: 82,226,483	M101K	probably benign	Het
Zkscan2	A	G	7: 123,479,972	S921P	probably damaging	Het

Other mutations in Lrrtm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02026:Lrrtm3	APN	10	64088452	missense	probably damaging	1.00
IGL02452:Lrrtm3	APN	10	64088036	missense	probably damaging	0.98
IGL03145:Lrrtm3	APN	10	64089020	missense	probably benign	0.00
R1511:Lrrtm3	UTSW	10	64089025	missense	probably damaging	1.00
R1556:Lrrtm3	UTSW	10	64088149	missense	probably damaging	0.97
R1921:Lrrtm3	UTSW	10	64088378	missense	probably benign	0.37
R1933:Lrrtm3	UTSW	10	64088513	missense	possibly damaging	0.81
R2849:Lrrtm3	UTSW	10	64089031	missense	probably damaging	1.00
R4707:Lrrtm3	UTSW	10	64088002	missense	probably benign	0.42
R4785:Lrrtm3	UTSW	10	64088002	missense	probably benign	0.42
R5423:Lrrtm3	UTSW	10	64088152	missense	possibly damaging	0.81
R5559:Lrrtm3	UTSW	10	63930266	missense	probably benign	0.35
R6295:Lrrtm3	UTSW	10	63930134	missense	probably benign
R6301:Lrrtm3	UTSW	10	64089222	missense	probably benign	0.26
R6356:Lrrtm3	UTSW	10	63930164	missense	probably benign	0.13
R6799:Lrrtm3	UTSW	10	64087851	nonsense	probably null
R7419:Lrrtm3	UTSW	10	64088146	missense	probably damaging	1.00
R7494:Lrrtm3	UTSW	10	64089179	missense	probably damaging	1.00
R7694:Lrrtm3	UTSW	10	64088039	missense	probably benign	0.03
R7723:Lrrtm3	UTSW	10	64088648	missense	possibly damaging	0.69
R8197:Lrrtm3	UTSW	10	64088516	missense	possibly damaging	0.65
R8310:Lrrtm3	UTSW	10	64089708	critical splice donor site	probably null
Z1176:Lrrtm3	UTSW	10	64089355	missense	probably damaging	1.00

Posted On

2012-12-06