Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Lrrc40'

302373

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc40

Ensembl Gene

ENSMUSG00000063052

Gene Name

leucine rich repeat containing 40

Synonyms

2610040E16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

158036662-158068487 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 158036773 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 16 (F16L)

Ref Sequence

ENSEMBL: ENSMUSP00000116475 (fasta)

Gene Model

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

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: F16L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071956
Gene: ENSMUSG00000063052
AA Change: F16L

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

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: 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

unknown
Transcript: ENSMUST00000131518
AA Change: F17L

SMART Domains

Protein: ENSMUSP00000121417
Gene: ENSMUSG00000063052
AA Change: F17L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133090

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000150525
AA Change: F16L

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

SMART Domains

Protein: ENSMUSP00000116475
Gene: ENSMUSG00000063052
AA Change: F16L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156597
AA Change: F16L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197292

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198192

Predicted Effect

probably damaging
Transcript: ENSMUST00000200540
AA Change: F8L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,590,794	L680P	probably damaging	Het
Alox12	A	T	11: 70,247,278	D410E	probably benign	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,604,112	R221L	probably damaging	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Magi2	A	G	5: 19,227,583	K99E	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Nvl	C	A	1: 181,106,976	V655F	probably damaging	Het
Olfml2b	C	T	1: 170,681,076	T501I	probably benign	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Slu7	T	A	11: 43,442,022		probably null	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Tekt4	T	C	17: 25,473,758	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,411,954	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,471,157	H159L	probably 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
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
V1662:Lrrc40	UTSW	3	158052789	missense	probably damaging	1.00

Posted On

2015-04-16