Mutagenetix > Incidental Mutation

Incidental Mutation 'R8461:Lrrc40'

655262

Institutional Source

Beutler Lab

Gene Symbol

Lrrc40

Ensembl Gene

ENSMUSG00000063052

Gene Name

leucine rich repeat containing 40

Synonyms

2610040E16Rik

MMRRC Submission

067837-MU

Accession Numbers

Essential gene?

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

Stock #

R8461 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

157742319-157772727 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 157764371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 429 (S429P)

Ref Sequence

ENSEMBL: ENSMUSP00000071956 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072080
AA Change: S429P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000071956
Gene: ENSMUSG00000063052
AA Change: S429P

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
4921539E11Rik	T	C	4: 103,112,712 (GRCm39)	D132G	probably benign	Het
Abca16	T	C	7: 120,035,918 (GRCm39)	F334L	possibly damaging	Het
Ache	T	C	5: 137,288,582 (GRCm39)	F96S	probably damaging	Het
Actg1	T	C	11: 120,239,010 (GRCm39)	T27A	unknown	Het
Ankrd27	T	C	7: 35,326,911 (GRCm39)	L752P	probably damaging	Het
Atp1a1	T	A	3: 101,496,405 (GRCm39)	T417S	probably benign	Het
Atp6v0a1	T	G	11: 100,935,400 (GRCm39)	L653R	possibly damaging	Het
Aurkb	T	C	11: 68,941,727 (GRCm39)	V293A	probably damaging	Het
C2cd5	A	T	6: 142,980,802 (GRCm39)	D654E	probably damaging	Het
Cacna1s	T	C	1: 136,001,440 (GRCm39)	V297A	possibly damaging	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Ccdc187	A	G	2: 26,183,814 (GRCm39)	L62P	probably damaging	Het
Cdh2	A	G	18: 16,783,522 (GRCm39)	V69A	probably benign	Het
D430041D05Rik	A	G	2: 103,998,280 (GRCm39)	V1156A	possibly damaging	Het
Defb37	G	A	8: 19,036,386 (GRCm39)	H45Y	unknown	Het
Dgke	T	C	11: 88,939,819 (GRCm39)	M367V	possibly damaging	Het
Dnah1	T	C	14: 31,027,915 (GRCm39)	K640R	probably benign	Het
Gm5478	A	T	15: 101,554,652 (GRCm39)	L148Q	probably damaging	Het
Hhla1	A	T	15: 65,795,723 (GRCm39)	S494R	probably benign	Het
Kcne4	G	A	1: 78,795,433 (GRCm39)	S27N	probably benign	Het
Klhdc7b	A	T	15: 89,271,824 (GRCm39)	H244L	probably damaging	Het
Map3k21	A	T	8: 126,671,361 (GRCm39)	D883V	probably benign	Het
Med4	T	C	14: 73,755,468 (GRCm39)	S259P	unknown	Het
Mrm3	T	C	11: 76,135,158 (GRCm39)	I123T	probably damaging	Het
Mrpl1	T	A	5: 96,361,646 (GRCm39)	V11D	probably damaging	Het
Myl1	G	A	1: 66,983,994 (GRCm39)	P24L	unknown	Het
Necap2	T	C	4: 140,797,531 (GRCm39)	K168R	probably damaging	Het
Nnt	A	G	13: 119,505,038 (GRCm39)	S559P	unknown	Het
Nox4	T	C	7: 86,966,479 (GRCm39)	F197L	probably damaging	Het
Nup93	T	C	8: 95,007,963 (GRCm39)		probably null	Het
Nxph2	T	C	2: 23,211,529 (GRCm39)	V10A	unknown	Het
Or1e16	T	A	11: 73,285,982 (GRCm39)	I289F	probably damaging	Het
Or8c11	T	A	9: 38,289,777 (GRCm39)	V194D	probably damaging	Het
Or8k38	G	A	2: 86,487,890 (GRCm39)	T304I	probably benign	Het
P2ry2	G	T	7: 100,647,895 (GRCm39)	R137S	possibly damaging	Het
Plxnb3	T	C	X: 72,803,103 (GRCm39)	Y324H	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Ppme1	T	C	7: 100,021,012 (GRCm39)	S7G	probably benign	Het
Rabep1	T	A	11: 70,775,681 (GRCm39)	M85K	possibly damaging	Het
Ranbp2	T	C	10: 58,312,216 (GRCm39)	Y979H	probably damaging	Het
Rapgef5	T	C	12: 117,677,844 (GRCm39)	S360P	probably benign	Het
Rbm33	T	A	5: 28,592,970 (GRCm39)	H623Q	probably damaging	Het
Rev1	G	T	1: 38,122,868 (GRCm39)	T450K	possibly damaging	Het
Sec23ip	T	A	7: 128,373,926 (GRCm39)	L716Q	probably benign	Het
Sp2	T	C	11: 96,846,739 (GRCm39)	T535A	possibly damaging	Het
Syne1	A	G	10: 5,011,463 (GRCm39)	S61P	probably benign	Het
Tcf4	T	C	18: 69,598,501 (GRCm39)	V72A	probably benign	Het
Tmem131	G	A	1: 36,833,902 (GRCm39)	S1726F	probably damaging	Het
Trim13	T	C	14: 61,842,921 (GRCm39)	Y313H	probably benign	Het
Ttn	A	G	2: 76,611,437 (GRCm39)	V17365A	possibly damaging	Het
Uap1l1	G	A	2: 25,255,422 (GRCm39)	A69V	probably benign	Het
Upp2	A	G	2: 58,670,068 (GRCm39)	D258G	probably benign	Het
Vmn1r44	A	T	6: 89,870,701 (GRCm39)	H149L	possibly damaging	Het
Zbtb49	T	C	5: 38,358,453 (GRCm39)	D600G	probably benign	Het
Zfp869	G	T	8: 70,160,305 (GRCm39)	H89Q	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
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
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'- GCTTCTGAGGATGAACAGAGC -3'
(R):5'- TCCTGTACATCTCTCAGAACAGTAG -3'

Sequencing Primer
(F):5'- GATGAACAGAGCGTCCTGACCTC -3'
(R):5'- GTAGAACCACAGTGTGCAGCATTC -3'

Posted On

2020-10-20