Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.124) 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
R9564:Lrrc40	UTSW	3	158040441	missense	probably benign	0.27

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