Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02026:Lrrtm3'

184186

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 #

IGL02026

Quality Score

Status

Chromosome

Chromosomal Location

63928472-64090277 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64088452 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 312 (N312S)

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: N312S

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

SMART Domains

Protein: ENSMUSP00000101079
Gene: ENSMUSG00000042846
AA Change: N312S

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,571,802	V237E	possibly damaging	Het
Amh	T	C	10: 80,805,408	L54P	probably damaging	Het
Aoc3	T	C	11: 101,337,595	S743P	probably benign	Het
Arhgap23	T	A	11: 97,451,581	W19R	probably damaging	Het
Atm	C	T	9: 53,442,417		probably null	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Ccdc47	T	C	11: 106,205,027	E281G	probably damaging	Het
Col7a1	A	C	9: 108,968,029	K1650N	probably damaging	Het
Evi2b	T	C	11: 79,515,787	S321G	probably damaging	Het
Fancm	T	G	12: 65,105,734	V988G	probably benign	Het
Gbp2	A	G	3: 142,633,480	Y431C	probably damaging	Het
Gclc	T	C	9: 77,792,060	V530A	probably benign	Het
Gm4985	T	G	X: 23,957,994	H314P	probably damaging	Het
Gm5885	T	C	6: 133,531,328		noncoding transcript	Het
Hlcs	A	T	16: 94,134,705	I576N	probably damaging	Het
Hnrnpul1	A	T	7: 25,745,162	F240L	probably damaging	Het
Itgb6	C	A	2: 60,628,066	V448F	possibly damaging	Het
Lama1	A	G	17: 67,809,292	T2385A	possibly damaging	Het
Lamc2	C	T	1: 153,144,736		probably benign	Het
Lrrc32	C	T	7: 98,499,560	R516C	probably benign	Het
Ltbp4	G	A	7: 27,327,417	R468*	probably null	Het
Man1a	T	C	10: 54,014,473	E373G	probably damaging	Het
Myo1h	A	T	5: 114,323,444	Q250L	probably null	Het
Myo9a	T	C	9: 59,905,962	V2077A	probably damaging	Het
Olfr114	A	G	17: 37,589,407		probably benign	Het
Otud5	C	T	X: 7,871,993		probably benign	Het
Pcsk1	A	G	13: 75,112,653	S332G	probably benign	Het
Pde8b	A	G	13: 95,034,361	V549A	probably damaging	Het
Pgap1	A	T	1: 54,494,819	M645K	probably benign	Het
Pm20d1	A	T	1: 131,801,759	R175*	probably null	Het
Polr2b	A	G	5: 77,332,252	N585S	probably benign	Het
Recql	T	A	6: 142,366,668	K41*	probably null	Het
Sccpdh	A	T	1: 179,678,069	H138L	possibly damaging	Het
Sec31a	A	T	5: 100,369,626	S951T	probably benign	Het
Slc44a4	A	T	17: 34,921,856		probably benign	Het
Tchhl1	G	T	3: 93,470,555	A189S	probably damaging	Het
Tdrd12	G	A	7: 35,504,233		probably benign	Het
Trbv12-1	A	G	6: 41,113,994	D100G	probably damaging	Het
Ttll13	T	A	7: 80,260,379	S757T	probably benign	Het
Vipas39	T	A	12: 87,251,709		probably benign	Het
Vmn1r64	G	A	7: 5,883,650	P298L	possibly damaging	Het
Vmn1r81	A	G	7: 12,260,505	S59P	probably damaging	Het
Vsx1	A	T	2: 150,688,527	V145D	probably benign	Het
Wdfy4	T	A	14: 33,093,300	N1586I	probably damaging	Het
Zan	T	A	5: 137,405,464		probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zzef1	T	A	11: 72,881,338	M1707K	probably benign	Het

Other mutations in Lrrtm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Lrrtm3	APN	10	64089209	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

2014-05-07