Mutagenetix > Incidental Mutation

Incidental Mutation 'R0457:Lrrc40'

261897

Institutional Source

Beutler Lab

Gene Symbol

Lrrc40

Ensembl Gene

ENSMUSG00000063052

Gene Name

leucine rich repeat containing 40

Synonyms

2610040E16Rik

MMRRC Submission

038657-MU

Accession Numbers

Essential gene?

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

Stock #

R0457 (G1)

Quality Score

180

Status

Not validated

Chromosome

Chromosomal Location

157742319-157772727 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 157760201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000072080

SMART Domains

Protein: ENSMUSP00000071956
Gene: ENSMUSG00000063052

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,844,054 (GRCm39)	I249M	possibly damaging	Het
Adcy5	T	C	16: 35,094,915 (GRCm39)	S691P	probably benign	Het
Ajm1	G	T	2: 25,468,358 (GRCm39)	R518S	possibly damaging	Het
Aspscr1	A	G	11: 120,568,444 (GRCm39)	E12G	probably benign	Het
Atp2a2	T	C	5: 122,607,777 (GRCm39)	Q244R	probably benign	Het
Birc6	A	G	17: 74,959,023 (GRCm39)	M3818V	probably benign	Het
Birc6	C	T	17: 74,969,620 (GRCm39)	A4230V	probably damaging	Het
Bub1b	T	C	2: 118,440,340 (GRCm39)	F148S	probably damaging	Het
C1ra	T	C	6: 124,499,712 (GRCm39)	S633P	probably benign	Het
Cacna2d1	A	G	5: 16,472,414 (GRCm39)	T274A	probably damaging	Het
Cmya5	A	G	13: 93,232,095 (GRCm39)	W998R	possibly damaging	Het
Crbn	T	C	6: 106,758,018 (GRCm39)	K404R	probably benign	Het
Cryga	T	C	1: 65,142,204 (GRCm39)	Y63C	probably damaging	Het
Csmd1	C	A	8: 16,551,407 (GRCm39)		probably null	Het
Defa-ps1	A	T	8: 22,185,758 (GRCm39)		noncoding transcript	Het
Dnajc10	T	A	2: 80,175,290 (GRCm39)	V559D	possibly damaging	Het
Dock1	A	T	7: 134,739,874 (GRCm39)	E1423D	possibly damaging	Het
Dpf3	A	T	12: 83,319,179 (GRCm39)	S44T	probably damaging	Het
Dyrk3	A	T	1: 131,064,094 (GRCm39)	V31D	possibly damaging	Het
F5	T	C	1: 164,021,769 (GRCm39)	S1415P	probably benign	Het
Fam186b	A	C	15: 99,169,166 (GRCm39)	I927S	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fer1l6	G	A	15: 58,509,943 (GRCm39)		probably null	Het
Fndc7	G	T	3: 108,783,861 (GRCm39)	S249R	probably benign	Het
Ganab	A	G	19: 8,884,614 (GRCm39)	E139G	possibly damaging	Het
Gbp5	A	G	3: 142,213,518 (GRCm39)	D478G	probably damaging	Het
Gm17324	T	A	9: 78,355,580 (GRCm39)	M1K	probably null	Het
Gtpbp6	T	A	5: 110,254,608 (GRCm39)	R126S	probably damaging	Het
Hapln4	G	A	8: 70,541,122 (GRCm39)	W385*	probably null	Het
Hmcn2	T	A	2: 31,305,296 (GRCm39)		probably null	Het
Hsp90ab1	A	G	17: 45,879,914 (GRCm39)	V534A	probably damaging	Het
Kat6b	C	A	14: 21,720,598 (GRCm39)	T1650K	probably damaging	Het
Kpna1	T	A	16: 35,823,275 (GRCm39)	D42E	probably benign	Het
Lrrc14b	A	G	13: 74,509,279 (GRCm39)	M376T	probably benign	Het
Ltv1	T	C	10: 13,067,887 (GRCm39)	T34A	probably benign	Het
Mga	T	A	2: 119,746,969 (GRCm39)	N373K	probably damaging	Het
Msh3	A	T	13: 92,357,505 (GRCm39)	M101K	probably damaging	Het
Mthfd2l	T	C	5: 91,168,065 (GRCm39)	M320T	possibly damaging	Het
Mug1	G	A	6: 121,838,514 (GRCm39)	E506K	probably benign	Het
Ngb	T	C	12: 87,147,503 (GRCm39)	D54G	probably damaging	Het
Ntrk1	A	G	3: 87,699,014 (GRCm39)	F84L	probably benign	Het
Or1j18	A	T	2: 36,624,545 (GRCm39)	I71F	probably benign	Het
Or52n2b	T	A	7: 104,566,180 (GRCm39)	T108S	probably benign	Het
Phf12	T	A	11: 77,908,994 (GRCm39)	I358N	possibly damaging	Het
Plec	A	G	15: 76,061,801 (GRCm39)	F2577S	probably damaging	Het
Polr1c	T	A	17: 46,558,689 (GRCm39)	Y36F	probably benign	Het
Prkd1	A	T	12: 50,413,155 (GRCm39)	M672K	probably damaging	Het
Prob1	T	C	18: 35,785,539 (GRCm39)	Y905C	probably damaging	Het
Ptpn23	T	A	9: 110,215,361 (GRCm39)	H1433L	possibly damaging	Het
Rnf11	A	T	4: 109,314,149 (GRCm39)	L80Q	probably damaging	Het
Sbp	G	A	17: 24,164,286 (GRCm39)	G183D	probably benign	Het
Scgb2b7	A	T	7: 31,403,437 (GRCm39)	C90S	possibly damaging	Het
Slc4a9	T	C	18: 36,668,471 (GRCm39)	L710P	probably damaging	Het
Spire1	T	A	18: 67,685,670 (GRCm39)	I35F	probably damaging	Het
Sptbn2	T	C	19: 4,795,966 (GRCm39)	V1715A	possibly damaging	Het
St7	T	C	6: 17,819,281 (GRCm39)	F62L	probably damaging	Het
Svep1	C	T	4: 58,118,136 (GRCm39)	G862D	probably damaging	Het
Syne1	A	T	10: 4,972,041 (GRCm39)	M8789K	probably damaging	Het
Synpo2	A	G	3: 122,906,421 (GRCm39)	L965P	probably damaging	Het
Trhde	A	T	10: 114,284,167 (GRCm39)	M772K	probably benign	Het
Ttn	T	A	2: 76,608,851 (GRCm39)	K15976*	probably null	Het
Unc13a	A	C	8: 72,110,645 (GRCm39)		probably null	Het
Vcan	T	C	13: 89,851,318 (GRCm39)	E1214G	possibly damaging	Het
Vmn1r29	T	C	6: 58,285,072 (GRCm39)	V264A	probably benign	Het
Vmn1r60	T	A	7: 5,548,118 (GRCm39)		probably benign	Het
Wdr90	C	T	17: 26,079,459 (GRCm39)	R225H	probably benign	Het
Wnk1	G	A	6: 119,946,293 (GRCm39)	T620I	probably damaging	Het
Zan	C	T	5: 137,405,968 (GRCm39)		probably benign	Het
Zfp37	A	T	4: 62,109,902 (GRCm39)	C387*	probably null	Het
Zfp521	T	C	18: 13,977,897 (GRCm39)	T839A	probably benign	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
R0355:Lrrc40	UTSW	3	157,746,108 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-02-04