Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02502:Lrrc47'

296099

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc47

Ensembl Gene

ENSMUSG00000029028

Gene Name

leucine rich repeat containing 47

Synonyms

2900010D03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

IGL02502

Quality Score

Status

Chromosome

Chromosomal Location

154096260-154105969 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154100471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 349 (E349G)

Ref Sequence

ENSEMBL: ENSMUSP00000133124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030894] [ENSMUST00000143047] [ENSMUST00000169622] [ENSMUST00000182151] [ENSMUST00000182191]

AlphaFold

Q505F5

Predicted Effect

probably benign
Transcript: ENSMUST00000030894
AA Change: E327G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000030894
Gene: ENSMUSG00000029028
AA Change: E327G

Domain	Start	End	E-Value	Type
low complexity region	1	7	N/A	INTRINSIC
low complexity region	10	36	N/A	INTRINSIC
low complexity region	43	54	N/A	INTRINSIC
LRR_TYP	100	123	2.61e-4	SMART
LRR_TYP	130	153	2.12e-4	SMART
LRR	155	177	3.75e0	SMART
LRR	180	202	9.77e1	SMART
LRR_TYP	203	226	2.27e-4	SMART
low complexity region	261	272	N/A	INTRINSIC
low complexity region	277	292	N/A	INTRINSIC
B3_4	331	507	8.94e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142794

Predicted Effect

probably benign
Transcript: ENSMUST00000143047

SMART Domains

Protein: ENSMUSP00000138733
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163672

Predicted Effect

probably benign
Transcript: ENSMUST00000167947

SMART Domains

Protein: ENSMUSP00000131382
Gene: ENSMUSG00000029028

Domain	Start	End	E-Value	Type
Pfam:B3_4	1	54	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169622
AA Change: E349G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000133124
Gene: ENSMUSG00000029028
AA Change: E349G

Domain	Start	End	E-Value	Type
low complexity region	22	29	N/A	INTRINSIC
low complexity region	32	58	N/A	INTRINSIC
low complexity region	65	76	N/A	INTRINSIC
LRR_TYP	122	145	2.61e-4	SMART
LRR_TYP	152	175	2.12e-4	SMART
LRR	177	199	3.75e0	SMART
LRR	202	224	9.77e1	SMART
LRR_TYP	225	248	2.27e-4	SMART
low complexity region	283	294	N/A	INTRINSIC
low complexity region	299	314	N/A	INTRINSIC
B3_4	353	529	8.94e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182151

SMART Domains

Protein: ENSMUSP00000138692
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
transmembrane domain	53	75	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182191

SMART Domains

Protein: ENSMUSP00000138710
Gene: ENSMUSG00000078350

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	G	2: 127,917,804 (GRCm39)	N216S	probably damaging	Het
Akap12	A	G	10: 4,303,163 (GRCm39)	D96G	probably damaging	Het
Akna	A	G	4: 63,286,440 (GRCm39)	V1353A	probably benign	Het
Ambra1	A	G	2: 91,730,877 (GRCm39)	D914G	probably damaging	Het
Ap1s3	A	G	1: 79,601,439 (GRCm39)	V84A	possibly damaging	Het
Arhgef6	T	C	X: 56,325,623 (GRCm39)	E282G	probably damaging	Het
C2cd2	G	T	16: 97,677,590 (GRCm39)	S378Y	possibly damaging	Het
Cd101	C	A	3: 100,919,141 (GRCm39)	A654S	probably damaging	Het
Cep295	A	C	9: 15,262,209 (GRCm39)		probably benign	Het
Csn1s1	A	G	5: 87,828,784 (GRCm39)	I283V	probably benign	Het
Cst3	A	G	2: 148,717,065 (GRCm39)		probably benign	Het
Cyp2b9	T	C	7: 25,887,239 (GRCm39)		probably null	Het
Dffb	A	G	4: 154,050,073 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,898,351 (GRCm39)	Y3711C	probably damaging	Het
Eif4g2	T	C	7: 110,680,748 (GRCm39)	S3G	probably damaging	Het
Erbb3	C	T	10: 128,406,153 (GRCm39)	R1088H	probably benign	Het
Evpl	T	C	11: 116,113,544 (GRCm39)	D1382G	probably damaging	Het
Fam168a	A	G	7: 100,473,417 (GRCm39)	D102G	probably damaging	Het
Fbxo7	A	G	10: 85,869,161 (GRCm39)	Y284C	probably damaging	Het
G6pd2	T	C	5: 61,966,971 (GRCm39)	Y249H	probably damaging	Het
Gm1123	A	T	9: 98,891,443 (GRCm39)	Y335*	probably null	Het
Gm5624	C	T	14: 44,797,296 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,844,635 (GRCm39)	M536K	possibly damaging	Het
Ikbkg	T	A	X: 73,487,433 (GRCm39)	V334E	probably benign	Het
Ipo7	T	C	7: 109,650,257 (GRCm39)	L769P	probably damaging	Het
Jmjd1c	A	T	10: 67,061,640 (GRCm39)	K1331I	probably benign	Het
Krt32	T	C	11: 99,978,749 (GRCm39)	K102E	probably damaging	Het
Lrrc34	A	T	3: 30,699,394 (GRCm39)	N20K	probably benign	Het
Mdn1	A	G	4: 32,670,579 (GRCm39)	I415V	possibly damaging	Het
Myh10	A	G	11: 68,705,198 (GRCm39)		probably null	Het
Nbeal2	A	G	9: 110,462,836 (GRCm39)	S1376P	probably damaging	Het
Nfx1	T	C	4: 40,976,345 (GRCm39)		probably benign	Het
Nherf4	G	A	9: 44,160,948 (GRCm39)	A206V	probably benign	Het
Notch3	A	T	17: 32,377,252 (GRCm39)	C246*	probably null	Het
Nr3c2	A	G	8: 77,969,143 (GRCm39)	Y976C	probably damaging	Het
Or51b17	A	G	7: 103,542,696 (GRCm39)	V82A	probably damaging	Het
Or52n4b	T	A	7: 108,143,846 (GRCm39)	M36K	probably damaging	Het
Or5b122	A	G	19: 13,563,112 (GRCm39)	Y105C	probably damaging	Het
P2rx7	C	T	5: 122,819,050 (GRCm39)	R491C	possibly damaging	Het
Phex	T	A	X: 155,966,823 (GRCm39)	Y625F	possibly damaging	Het
Pkhd1	T	C	1: 20,462,389 (GRCm39)	D2055G	probably damaging	Het
Pmm2	T	C	16: 8,463,227 (GRCm39)		probably benign	Het
Prdm15	T	C	16: 97,640,539 (GRCm39)	D16G	probably damaging	Het
Prune2	T	A	19: 17,101,245 (GRCm39)	C2250S	probably benign	Het
Rasgef1a	T	A	6: 118,057,443 (GRCm39)	F48Y	probably benign	Het
Rhoq	T	C	17: 87,271,077 (GRCm39)	V15A	probably damaging	Het
Rnf216	G	A	5: 143,054,622 (GRCm39)	A585V	probably damaging	Het
Septin9	T	A	11: 117,181,488 (GRCm39)	I96N	probably damaging	Het
Shprh	T	A	10: 11,070,101 (GRCm39)	D1492E	possibly damaging	Het
Slc22a26	A	T	19: 7,768,125 (GRCm39)		probably null	Het
Tek	T	G	4: 94,741,818 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,741,051 (GRCm39)	E782G	probably damaging	Het
Trmt5	A	G	12: 73,328,001 (GRCm39)	C401R	probably benign	Het
Tspear	T	G	10: 77,688,792 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 38,030,933 (GRCm39)	T414I	probably benign	Het
Vcl	A	T	14: 21,069,453 (GRCm39)	T710S	probably damaging	Het
Vmn2r25	A	T	6: 123,816,392 (GRCm39)	D396E	probably damaging	Het
Wtip	A	G	7: 33,818,094 (GRCm39)		probably null	Het
Zap70	A	G	1: 36,817,887 (GRCm39)		probably benign	Het

Other mutations in Lrrc47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02614:Lrrc47	APN	4	154,103,392 (GRCm39)	splice site	probably null
IGL03001:Lrrc47	APN	4	154,100,450 (GRCm39)	missense	probably damaging	0.99
R0372:Lrrc47	UTSW	4	154,104,089 (GRCm39)	missense	probably benign	0.00
R0433:Lrrc47	UTSW	4	154,102,822 (GRCm39)	unclassified	probably benign
R0720:Lrrc47	UTSW	4	154,104,344 (GRCm39)	splice site	probably null
R1163:Lrrc47	UTSW	4	154,096,274 (GRCm39)	start codon destroyed	probably null
R2078:Lrrc47	UTSW	4	154,103,888 (GRCm39)	missense	probably damaging	1.00
R2103:Lrrc47	UTSW	4	154,100,350 (GRCm39)	missense	probably damaging	1.00
R5105:Lrrc47	UTSW	4	154,096,673 (GRCm39)	missense	probably damaging	1.00
R5109:Lrrc47	UTSW	4	154,101,933 (GRCm39)	missense	probably damaging	0.99
R5687:Lrrc47	UTSW	4	154,100,140 (GRCm39)	missense	probably benign	0.10
R5885:Lrrc47	UTSW	4	154,100,429 (GRCm39)	missense	possibly damaging	0.75
R6198:Lrrc47	UTSW	4	154,100,129 (GRCm39)	missense	probably damaging	1.00
R6384:Lrrc47	UTSW	4	154,100,317 (GRCm39)	missense	probably benign	0.00
R7040:Lrrc47	UTSW	4	154,104,909 (GRCm39)	makesense	probably null
R7680:Lrrc47	UTSW	4	154,100,558 (GRCm39)	missense	probably benign	0.00
R8263:Lrrc47	UTSW	4	154,100,486 (GRCm39)	missense	probably damaging	1.00
R9092:Lrrc47	UTSW	4	154,096,421 (GRCm39)	missense	possibly damaging	0.79
R9364:Lrrc47	UTSW	4	154,100,398 (GRCm39)	missense	possibly damaging	0.78
R9483:Lrrc47	UTSW	4	154,101,920 (GRCm39)	missense	probably damaging	1.00
R9706:Lrrc47	UTSW	4	154,096,487 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16