Mutagenetix > Incidental Mutation

Incidental Mutation 'R0355:Lrrc40'

29743

Institutional Source

Beutler Lab

Gene Symbol

Lrrc40

Ensembl Gene

ENSMUSG00000063052

Gene Name

leucine rich repeat containing 40

Synonyms

2610040E16Rik

MMRRC Submission

038561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R0355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

157742319-157772727 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 157746108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 61 (D61V)

Ref Sequence

ENSEMBL: ENSMUSP00000116475 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069025] [ENSMUST00000072080] [ENSMUST00000121326] [ENSMUST00000126716] [ENSMUST00000150525] [ENSMUST00000200540] [ENSMUST00000156597] [ENSMUST00000137444]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069025

SMART Domains

Protein: ENSMUSP00000063916
Gene: ENSMUSG00000055436

Domain	Start	End	E-Value	Type
low complexity region	64	88	N/A	INTRINSIC
low complexity region	91	114	N/A	INTRINSIC
low complexity region	186	264	N/A	INTRINSIC
low complexity region	271	310	N/A	INTRINSIC
low complexity region	328	335	N/A	INTRINSIC
low complexity region	365	374	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000072080
AA Change: D61V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071956
Gene: ENSMUSG00000063052
AA Change: D61V

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

noncoding transcript
Transcript: ENSMUST00000089922

Predicted Effect

probably benign
Transcript: ENSMUST00000121326

SMART Domains

Protein: ENSMUSP00000113685
Gene: ENSMUSG00000055436

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	40	59	N/A	INTRINSIC
RRM	62	136	3.13e-7	SMART
low complexity region	152	176	N/A	INTRINSIC
low complexity region	179	202	N/A	INTRINSIC
low complexity region	274	352	N/A	INTRINSIC
low complexity region	362	444	N/A	INTRINSIC
low complexity region	463	470	N/A	INTRINSIC
low complexity region	500	509	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123028
AA Change: D16V

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121905
Gene: ENSMUSG00000063052
AA Change: D16V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126716

SMART Domains

Protein: ENSMUSP00000114370
Gene: ENSMUSG00000055436

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
RRM	27	101	3.13e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131518
AA Change: D62V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121417
Gene: ENSMUSG00000063052
AA Change: D62V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000150525
AA Change: D61V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116475
Gene: ENSMUSG00000063052
AA Change: D61V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133090

Predicted Effect

probably benign
Transcript: ENSMUST00000200540

Predicted Effect

probably benign
Transcript: ENSMUST00000156597

Predicted Effect

probably benign
Transcript: ENSMUST00000137444

SMART Domains

Protein: ENSMUSP00000122686
Gene: ENSMUSG00000055436

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
RRM	27	101	3.13e-7	SMART
low complexity region	117	141	N/A	INTRINSIC
low complexity region	144	167	N/A	INTRINSIC

Meta Mutation Damage Score

0.5808

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 90.2%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,021 (GRCm39)	I52M	possibly damaging	Het
Agbl5	G	T	5: 31,049,335 (GRCm39)		probably null	Het
Akt2	T	C	7: 27,336,334 (GRCm39)		probably benign	Het
Arl6ip5	T	A	6: 97,209,378 (GRCm39)	S138T	probably damaging	Het
Atp9b	A	G	18: 80,952,800 (GRCm39)		probably benign	Het
Ccdc171	A	T	4: 83,553,919 (GRCm39)	N422Y	probably damaging	Het
Ccr5	C	T	9: 123,924,951 (GRCm39)	P185S	possibly damaging	Het
Cep63	G	T	9: 102,500,759 (GRCm39)	Q38K	probably benign	Het
Cgn	T	C	3: 94,682,242 (GRCm39)	S446G	probably benign	Het
Col16a1	T	A	4: 129,952,206 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 15,968,330 (GRCm39)	Q3099L	probably damaging	Het
Dcc	G	A	18: 71,708,279 (GRCm39)	T479I	possibly damaging	Het
Dclre1a	A	G	19: 56,535,067 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,502,992 (GRCm39)	C66*	probably null	Het
Dnah12	T	A	14: 26,427,272 (GRCm39)		probably null	Het
Dnajb9	T	A	12: 44,253,987 (GRCm39)	H140L	probably damaging	Het
Dnase1	G	A	16: 3,857,413 (GRCm39)	V237M	probably damaging	Het
Dscam	C	A	16: 96,456,105 (GRCm39)	E1274D	probably benign	Het
Epb41	T	C	4: 131,727,572 (GRCm39)	H243R	probably damaging	Het
Evc	T	A	5: 37,473,656 (GRCm39)		probably benign	Het
Fcgrt	T	A	7: 44,752,493 (GRCm39)	M1L	unknown	Het
Flii	T	C	11: 60,610,506 (GRCm39)		probably null	Het
Gen1	A	G	12: 11,298,355 (GRCm39)		probably benign	Het
Gm10447	T	C	11: 53,347,257 (GRCm39)		probably benign	Het
Gm57858	A	G	3: 36,101,054 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,055,975 (GRCm39)		noncoding transcript	Het
Gpr137	G	C	19: 6,916,491 (GRCm39)	D253E	probably damaging	Het
Grid2ip	A	T	5: 143,343,652 (GRCm39)	D116V	probably benign	Het
Grin2c	A	G	11: 115,151,554 (GRCm39)		probably benign	Het
Havcr1	A	G	11: 46,647,051 (GRCm39)	T162A	possibly damaging	Het
Hspa1l	A	T	17: 35,196,386 (GRCm39)	T142S	probably benign	Het
Ift140	T	A	17: 25,267,409 (GRCm39)	Y602*	probably null	Het
Il18	T	A	9: 50,490,575 (GRCm39)		probably benign	Het
Ilf3	T	C	9: 21,309,266 (GRCm39)	V474A	probably damaging	Het
Inppl1	T	C	7: 101,476,664 (GRCm39)	Y771C	probably damaging	Het
Ints2	T	C	11: 86,125,575 (GRCm39)	T542A	probably benign	Het
Ipo7	T	C	7: 109,648,868 (GRCm39)	Y714H	probably benign	Het
Itgbl1	T	A	14: 124,077,997 (GRCm39)	C162*	probably null	Het
Kcp	T	C	6: 29,496,926 (GRCm39)	H561R	possibly damaging	Het
Krt23	G	T	11: 99,376,613 (GRCm39)	T181N	probably benign	Het
Lypd4	T	A	7: 24,564,691 (GRCm39)	H149L	probably benign	Het
Map3k4	A	G	17: 12,473,058 (GRCm39)	F953L	probably damaging	Het
Mctp1	C	T	13: 76,972,982 (GRCm39)	P405S	probably damaging	Het
Mfsd2a	G	A	4: 122,845,632 (GRCm39)	T173I	possibly damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nipsnap1	G	A	11: 4,839,957 (GRCm39)	G226E	probably damaging	Het
Nudt15	T	C	14: 73,760,824 (GRCm39)	Y89C	probably damaging	Het
Or10g7	T	A	9: 39,905,459 (GRCm39)	S118T	possibly damaging	Het
Or10h28	T	A	17: 33,488,109 (GRCm39)	M137K	probably damaging	Het
Or13p3	T	A	4: 118,566,808 (GRCm39)	M68K	probably benign	Het
Or7a37	T	G	10: 78,806,267 (GRCm39)	S261R	probably damaging	Het
Phf24	A	C	4: 42,933,891 (GRCm39)	E91A	probably damaging	Het
Plbd1	T	A	6: 136,618,165 (GRCm39)	N17I	possibly damaging	Het
Por	C	T	5: 135,761,438 (GRCm39)	S308L	probably benign	Het
Prmt8	T	A	6: 127,688,837 (GRCm39)	K178*	probably null	Het
Rev3l	A	G	10: 39,693,282 (GRCm39)	N454S	probably damaging	Het
Rps6ka2	T	C	17: 7,539,009 (GRCm39)	V309A	probably benign	Het
Slc15a5	A	G	6: 137,995,112 (GRCm39)		probably benign	Het
Slc30a6	G	A	17: 74,730,198 (GRCm39)	V363I	probably benign	Het
Snf8	G	A	11: 95,930,125 (GRCm39)	M42I	probably benign	Het
Stom	T	C	2: 35,215,371 (GRCm39)	I65V	probably benign	Het
Tacr3	C	T	3: 134,637,989 (GRCm39)	T382I	probably benign	Het
Tenm3	A	G	8: 48,682,010 (GRCm39)	V2540A	probably damaging	Het
Trabd	A	G	15: 88,969,816 (GRCm39)	T314A	possibly damaging	Het
Tyk2	T	C	9: 21,025,486 (GRCm39)		probably null	Het
Ube4a	T	C	9: 44,856,099 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,589,015 (GRCm39)	H1060R	possibly damaging	Het
Virma	A	T	4: 11,528,626 (GRCm39)	K1288*	probably null	Het
Vmn2r100	A	C	17: 19,751,582 (GRCm39)	I542L	probably benign	Het
Vwde	T	C	6: 13,187,806 (GRCm39)		probably benign	Het
Zfc3h1	T	C	10: 115,245,018 (GRCm39)	I797T	possibly damaging	Het
Zfp74	C	T	7: 29,653,466 (GRCm39)		probably benign	Het
Zkscan7	T	A	9: 122,717,872 (GRCm39)	L89Q	probably damaging	Het

Other mutations in Lrrc40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Lrrc40	APN	3	157,754,087 (GRCm39)	missense	probably damaging	1.00
IGL00501:Lrrc40	APN	3	157,766,919 (GRCm39)	missense	probably damaging	0.96
IGL00727:Lrrc40	APN	3	157,769,508 (GRCm39)	critical splice donor site	probably null
IGL01349:Lrrc40	APN	3	157,764,302 (GRCm39)	splice site	probably benign
IGL02377:Lrrc40	APN	3	157,742,365 (GRCm39)	start codon destroyed	probably null	1.00
IGL02490:Lrrc40	APN	3	157,768,336 (GRCm39)	missense	probably damaging	1.00
IGL02657:Lrrc40	APN	3	157,742,410 (GRCm39)	missense	probably damaging	1.00
IGL02879:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL02944:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL02954:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL02966:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL03004:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL03032:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL03112:Lrrc40	APN	3	157,747,302 (GRCm39)	intron	probably benign
IGL03163:Lrrc40	APN	3	157,747,224 (GRCm39)	missense	possibly damaging	0.82
I2288:Lrrc40	UTSW	3	157,758,426 (GRCm39)	missense	probably damaging	1.00
R0266:Lrrc40	UTSW	3	157,747,298 (GRCm39)	critical splice donor site	probably null
R0457:Lrrc40	UTSW	3	157,760,201 (GRCm39)	splice site	probably null
R0968:Lrrc40	UTSW	3	157,742,426 (GRCm39)	missense	probably damaging	1.00
R1799:Lrrc40	UTSW	3	157,742,441 (GRCm39)	missense	probably benign	0.38
R1962:Lrrc40	UTSW	3	157,746,086 (GRCm39)	missense	probably benign	0.01
R4614:Lrrc40	UTSW	3	157,760,271 (GRCm39)	missense	probably damaging	1.00
R4825:Lrrc40	UTSW	3	157,766,967 (GRCm39)	nonsense	probably null
R4857:Lrrc40	UTSW	3	157,771,866 (GRCm39)	utr 3 prime	probably benign
R4947:Lrrc40	UTSW	3	157,769,472 (GRCm39)	missense	probably benign	0.00
R5148:Lrrc40	UTSW	3	157,760,206 (GRCm39)	splice site	probably null
R5673:Lrrc40	UTSW	3	157,754,035 (GRCm39)	splice site	probably null
R6354:Lrrc40	UTSW	3	157,766,901 (GRCm39)	nonsense	probably null
R6382:Lrrc40	UTSW	3	157,764,333 (GRCm39)	missense	probably damaging	0.98
R6713:Lrrc40	UTSW	3	157,769,350 (GRCm39)	missense	probably benign	0.00
R7081:Lrrc40	UTSW	3	157,742,442 (GRCm39)	missense	probably damaging	0.98
R7098:Lrrc40	UTSW	3	157,747,276 (GRCm39)	missense	probably benign	0.29
R7484:Lrrc40	UTSW	3	157,746,194 (GRCm39)	missense	probably benign	0.14
R8043:Lrrc40	UTSW	3	157,769,397 (GRCm39)	missense	possibly damaging	0.81
R8093:Lrrc40	UTSW	3	157,757,419 (GRCm39)	nonsense	probably null
R8461:Lrrc40	UTSW	3	157,764,371 (GRCm39)	missense	possibly damaging	0.66
R9564:Lrrc40	UTSW	3	157,746,078 (GRCm39)	missense	probably benign	0.27
V1662:Lrrc40	UTSW	3	157,758,426 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCTGGAGTTACTTGGGACCATTG -3'
(R):5'- TCTGTGGACATAGAGACATGGAGCC -3'

Sequencing Primer
(F):5'- TGGGACCATTGTAAGATAAAGTATTC -3'
(R):5'- ATGGAGCCGATCTTCCAAGTC -3'

Posted On

2013-04-24