Mutagenetix > Incidental Mutations

Incidental Mutation 'V1662:Lrrc40'

63479

Institutional Source

Beutler Lab

Gene Symbol

Lrrc40

Ensembl Gene

ENSMUSG00000063052

Gene Name

leucine rich repeat containing 40

Synonyms

2610040E16Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

V1662 () of strain 633

Quality Score

137

Status

Not validated

Chromosome

Chromosomal Location

158036662-158068487 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 158052789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 277 (I277K)

Ref Sequence

ENSEMBL: ENSMUSP00000071956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072080] [ENSMUST00000150525] [ENSMUST00000156597] [ENSMUST00000200540]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000072080
AA Change: I277K

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

SMART Domains

Protein: ENSMUSP00000071956
Gene: ENSMUSG00000063052
AA Change: I277K

Domain	Start	End	E-Value	Type
LRR	81	100	7.11e1	SMART
LRR	104	126	6.13e-1	SMART
LRR	127	149	1.51e0	SMART
LRR_TYP	150	172	8.47e-4	SMART
LRR	173	195	3.52e-1	SMART
LRR_TYP	196	219	2.91e-2	SMART
LRR	242	261	9.15e0	SMART
LRR	265	287	1.01e2	SMART
LRR	288	310	1.86e1	SMART
LRR	311	334	2.32e-1	SMART
LRR	335	356	2.21e2	SMART
LRR	471	493	1.86e0	SMART
LRR	494	517	8.97e0	SMART
LRR	541	564	1.53e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123028

SMART Domains

Protein: ENSMUSP00000121905
Gene: ENSMUSG00000063052

Domain	Start	End	E-Value	Type
SCOP:d1fqva2	37	68	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131518

SMART Domains

Protein: ENSMUSP00000121417
Gene: ENSMUSG00000063052

Domain	Start	End	E-Value	Type
SCOP:d1fqva2	80	110	2e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150525

SMART Domains

Protein: ENSMUSP00000116475
Gene: ENSMUSG00000063052

Domain	Start	End	E-Value	Type
SCOP:d1fqva2	81	111	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156597

Predicted Effect

probably benign
Transcript: ENSMUST00000200540

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	C	5: 114,238,708	G1951R	probably damaging	Het
Adamts12	T	A	15: 11,071,808	L146Q	probably benign	Het
Adgra1	T	C	7: 139,852,579	I111T	probably damaging	Het
Amph	G	A	13: 19,139,370	V601M	probably benign	Het
Arfgef1	T	C	1: 10,173,253	K1024E	probably damaging	Het
Arhgef2	G	A	3: 88,633,329	R154Q	probably damaging	Het
Bank1	T	A	3: 136,054,418	D782V	probably damaging	Het
Bhlha9	G	T	11: 76,673,036	R163L	probably benign	Het
Cacna1h	T	C	17: 25,377,309	N1913D	possibly damaging	Het
Cd7	T	C	11: 121,037,126	I184V	probably benign	Het
Cdk2ap1	T	A	5: 124,348,676	I68F	possibly damaging	Het
Cfap44	C	A	16: 44,449,138	Y1168*	probably null	Het
D6Ertd527e	T	C	6: 87,111,892	S346P	unknown	Het
Daam2	A	G	17: 49,464,601	L839P	possibly damaging	Het
Fam198a	A	G	9: 121,965,025	R82G	probably damaging	Het
Gm7030	A	G	17: 36,128,931	Y104H	probably benign	Het
Golgb1	A	G	16: 36,898,542	H270R	probably benign	Het
Itgav	C	T	2: 83,783,854	R519W	possibly damaging	Het
Lrp1b	A	T	2: 41,122,932	I2001K	probably damaging	Het
Olfr1025-ps1	C	A	2: 85,918,594	T223K	probably benign	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr1373	T	C	11: 52,145,177	M118V	probably damaging	Het
Olfr524	C	T	7: 140,201,958	D271N	possibly damaging	Het
Pyroxd1	G	A	6: 142,358,443	G307S	probably damaging	Het
Rp1	T	A	1: 4,349,560	Y443F	probably damaging	Het
Rpusd4	C	A	9: 35,272,761	S237R	probably benign	Het
Sdk2	A	C	11: 113,834,908	W1172G	probably damaging	Het
Utrn	A	G	10: 12,421,640	Y675H	probably damaging	Het
Vmn1r193	A	G	13: 22,219,075	I249T	possibly damaging	Het

Other mutations in Lrrc40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Lrrc40	APN	3	158048450	missense	probably damaging	1.00
IGL00501:Lrrc40	APN	3	158061282	missense	probably damaging	0.96
IGL00727:Lrrc40	APN	3	158063871	critical splice donor site	probably null
IGL01349:Lrrc40	APN	3	158058665	splice site	probably benign
IGL02377:Lrrc40	APN	3	158036728	start codon destroyed	probably null	1.00
IGL02490:Lrrc40	APN	3	158062699	missense	probably damaging	1.00
IGL02657:Lrrc40	APN	3	158036773	missense	probably damaging	1.00
IGL02879:Lrrc40	APN	3	158041665	intron	probably benign
IGL02944:Lrrc40	APN	3	158041665	intron	probably benign
IGL02954:Lrrc40	APN	3	158041665	intron	probably benign
IGL02966:Lrrc40	APN	3	158041665	intron	probably benign
IGL03004:Lrrc40	APN	3	158041665	intron	probably benign
IGL03032:Lrrc40	APN	3	158041665	intron	probably benign
IGL03112:Lrrc40	APN	3	158041665	intron	probably benign
IGL03163:Lrrc40	APN	3	158041587	missense	possibly damaging	0.82
I2288:Lrrc40	UTSW	3	158052789	missense	probably damaging	1.00
R0266:Lrrc40	UTSW	3	158041661	critical splice donor site	probably null
R0355:Lrrc40	UTSW	3	158040471	missense	probably damaging	0.99
R0457:Lrrc40	UTSW	3	158054564	splice site	probably null
R0968:Lrrc40	UTSW	3	158036789	missense	probably damaging	1.00
R1799:Lrrc40	UTSW	3	158036804	missense	probably benign	0.38
R1962:Lrrc40	UTSW	3	158040449	missense	probably benign	0.01
R4614:Lrrc40	UTSW	3	158054634	missense	probably damaging	1.00
R4825:Lrrc40	UTSW	3	158061330	nonsense	probably null
R4857:Lrrc40	UTSW	3	158066229	utr 3 prime	probably benign
R4947:Lrrc40	UTSW	3	158063835	missense	probably benign	0.00
R5148:Lrrc40	UTSW	3	158054569	splice site	probably null
R5673:Lrrc40	UTSW	3	158048398	splice site	probably null
R6354:Lrrc40	UTSW	3	158061264	nonsense	probably null
R6382:Lrrc40	UTSW	3	158058696	missense	probably damaging	0.98
R6713:Lrrc40	UTSW	3	158063713	missense	probably benign	0.00
R7081:Lrrc40	UTSW	3	158036805	missense	probably damaging	0.98
R7098:Lrrc40	UTSW	3	158041639	missense	probably benign	0.29
R7484:Lrrc40	UTSW	3	158040557	missense	probably benign	0.14
R8043:Lrrc40	UTSW	3	158063760	missense	possibly damaging	0.81
R8093:Lrrc40	UTSW	3	158051782	nonsense	probably null
R8461:Lrrc40	UTSW	3	158058734	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TGGTTTGAGGTATAGCATTAGCACTGC -3'
(R):5'- TCTGAAATGTGACTACACATCTGCTTCC -3'

Sequencing Primer
(F):5'- GCTGGGAAATTCCATTCACTATG -3'
(R):5'- ATTAACTTGGCTGTCAGGGAAG -3'

Posted On

2013-07-30