Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02477:Lrrd1'

294982

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrd1

Ensembl Gene

ENSMUSG00000040367

Gene Name

leucine rich repeats and death domain containing 1

Synonyms

4932412H11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

IGL02477

Quality Score

Status

Chromosome

Chromosomal Location

3845173-3866596 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3865770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 789 (M789K)

Ref Sequence

ENSEMBL: ENSMUSP00000038675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044039]

AlphaFold

Q8C0R9

Predicted Effect

probably benign
Transcript: ENSMUST00000044039
AA Change: M789K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: M789K

Domain	Start	End	E-Value	Type
low complexity region	89	101	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
LRR	181	203	3.18e1	SMART
LRR	204	226	7.8e1	SMART
LRR	227	249	5.26e0	SMART
LRR	250	272	3.98e1	SMART
LRR	273	294	2.33e1	SMART
LRR	296	318	2.14e1	SMART
LRR_TYP	319	342	1.45e-2	SMART
LRR	365	388	4.44e0	SMART
LRR	389	410	2.76e1	SMART
LRR	411	433	8.73e1	SMART
LRR	434	457	3.55e1	SMART
LRR	480	503	1.45e1	SMART
LRR	526	548	1.31e0	SMART
LRR	549	571	3.65e1	SMART
LRR	572	594	6.22e0	SMART
LRR	595	618	2.68e1	SMART
LRR	644	665	1.15e1	SMART
LRR	667	689	8.01e0	SMART
LRR	690	713	1.53e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,270,746	I61F	probably benign	Het
Abr	T	C	11: 76,461,360	K280E	probably damaging	Het
Acaca	T	C	11: 84,307,168		probably benign	Het
Cep131	C	T	11: 120,070,580	V582I	probably damaging	Het
Colec12	A	G	18: 9,859,858	N613D	unknown	Het
Cyp4f39	A	G	17: 32,489,645	T389A	probably benign	Het
D630003M21Rik	T	C	2: 158,217,488	N164S	probably benign	Het
Eef1akmt2	A	T	7: 132,850,589		probably null	Het
Elp3	T	C	14: 65,563,311	T283A	probably benign	Het
Fads3	C	A	19: 10,056,442	P397Q	probably damaging	Het
Fam171a1	T	C	2: 3,202,575	V198A	possibly damaging	Het
Fam171a2	T	C	11: 102,440,028	I208M	probably benign	Het
Fbxw17	G	A	13: 50,423,817	V119M	possibly damaging	Het
Gtf2ird1	G	A	5: 134,379,978	T140M	probably damaging	Het
Hspa14	C	T	2: 3,496,624	S277N	probably damaging	Het
Hspg2	C	T	4: 137,544,512		probably benign	Het
Ing2	G	T	8: 47,669,268	R82S	possibly damaging	Het
Kat6a	A	G	8: 22,929,300	Y693C	probably damaging	Het
Kcna7	A	G	7: 45,409,623	M445V	probably benign	Het
Lifr	T	G	15: 7,186,923	I793S	probably damaging	Het
Myom3	T	A	4: 135,779,368	L484Q	probably benign	Het
Nav2	T	A	7: 49,582,875	M1860K	probably damaging	Het
Nipbl	C	T	15: 8,323,647		probably null	Het
Nsun7	T	A	5: 66,276,649	I214K	probably damaging	Het
Olfr181	T	C	16: 58,925,763	I269M	probably benign	Het
Olfr898	C	T	9: 38,349,125	S8L	probably benign	Het
Osm	T	A	11: 4,239,604	N129K	probably damaging	Het
Plce1	C	T	19: 38,719,553		probably benign	Het
Plch1	A	G	3: 63,753,293	F302L	probably damaging	Het
Pld2	T	C	11: 70,540,925	V27A	possibly damaging	Het
Prex2	A	G	1: 11,204,154	D1350G	probably benign	Het
Psme4	T	A	11: 30,842,083	V1190D	probably damaging	Het
Sema3g	G	T	14: 31,227,866	R668L	probably damaging	Het
Sprr2f	T	A	3: 92,365,897	M1K	probably null	Het
Sult6b2	G	A	6: 142,801,721	P101S	probably damaging	Het
Trem3	G	A	17: 48,249,836	V112I	probably benign	Het
Ttll9	T	A	2: 153,000,197	F324I	possibly damaging	Het
Ttn	T	A	2: 76,726,760	D29967V	probably damaging	Het
Ubr4	A	G	4: 139,436,205	K2639E	probably damaging	Het
Vwce	T	C	19: 10,664,618		probably null	Het
Zbtb14	T	A	17: 69,387,695	D129E	probably benign	Het
Zmym6	C	T	4: 127,078,502	Q16*	probably null	Het

Other mutations in Lrrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Lrrd1	APN	5	3850573	missense	possibly damaging	0.94
IGL00329:Lrrd1	APN	5	3850081	missense	possibly damaging	0.94
IGL00674:Lrrd1	APN	5	3849773	missense	possibly damaging	0.92
IGL00691:Lrrd1	APN	5	3863929	missense	probably damaging	0.98
IGL00839:Lrrd1	APN	5	3850017	missense	probably benign	0.00
IGL00911:Lrrd1	APN	5	3865689	missense	probably benign	0.07
IGL01754:Lrrd1	APN	5	3851432	missense	probably damaging	1.00
IGL01981:Lrrd1	APN	5	3851267	missense	probably damaging	1.00
IGL02003:Lrrd1	APN	5	3849857	missense	probably damaging	0.99
IGL02223:Lrrd1	APN	5	3850211	missense	probably benign
IGL02609:Lrrd1	APN	5	3858803	missense	probably benign	0.26
IGL02833:Lrrd1	APN	5	3850709	missense	probably damaging	0.98
IGL02886:Lrrd1	APN	5	3851534	missense	probably benign	0.00
IGL02896:Lrrd1	APN	5	3851473	missense	probably benign	0.08
R0045:Lrrd1	UTSW	5	3866418	missense	possibly damaging	0.50
R0138:Lrrd1	UTSW	5	3851345	missense	probably benign	0.04
R0305:Lrrd1	UTSW	5	3865707	missense	probably damaging	1.00
R0346:Lrrd1	UTSW	5	3850215	missense	probably benign	0.03
R0455:Lrrd1	UTSW	5	3866425	missense	probably benign	0.21
R1717:Lrrd1	UTSW	5	3850580	missense	probably damaging	0.99
R1719:Lrrd1	UTSW	5	3850483	splice site	probably null
R1836:Lrrd1	UTSW	5	3865709	missense	probably benign	0.36
R1951:Lrrd1	UTSW	5	3851488	missense	probably damaging	1.00
R2199:Lrrd1	UTSW	5	3866478	missense	possibly damaging	0.86
R3751:Lrrd1	UTSW	5	3850282	missense	probably benign	0.37
R3752:Lrrd1	UTSW	5	3850282	missense	probably benign	0.37
R3837:Lrrd1	UTSW	5	3850204	missense	possibly damaging	0.73
R3862:Lrrd1	UTSW	5	3851248	missense	probably benign	0.00
R3863:Lrrd1	UTSW	5	3851248	missense	probably benign	0.00
R3864:Lrrd1	UTSW	5	3851248	missense	probably benign	0.00
R4816:Lrrd1	UTSW	5	3851126	nonsense	probably null
R5225:Lrrd1	UTSW	5	3858735	missense	probably benign	0.00
R5721:Lrrd1	UTSW	5	3850619	missense	probably benign	0.13
R5791:Lrrd1	UTSW	5	3851254	missense	probably benign	0.11
R6077:Lrrd1	UTSW	5	3850837	missense	probably benign	0.01
R6229:Lrrd1	UTSW	5	3863887	missense	probably damaging	1.00
R6330:Lrrd1	UTSW	5	3850629	missense	probably damaging	1.00
R6588:Lrrd1	UTSW	5	3851386	missense	probably benign	0.19
R6734:Lrrd1	UTSW	5	3850226	missense	possibly damaging	0.95
R6932:Lrrd1	UTSW	5	3851395	missense	probably benign	0.06
R7180:Lrrd1	UTSW	5	3851459	missense	probably damaging	1.00
R7771:Lrrd1	UTSW	5	3866476	missense	possibly damaging	0.84
R8356:Lrrd1	UTSW	5	3866509	missense	probably benign	0.19
R9031:Lrrd1	UTSW	5	3850963	nonsense	probably null
R9208:Lrrd1	UTSW	5	3850995	missense	probably damaging	0.97
R9344:Lrrd1	UTSW	5	3858819	missense	possibly damaging	0.59
R9381:Lrrd1	UTSW	5	3851074	missense	probably benign	0.43
R9400:Lrrd1	UTSW	5	3849677	unclassified	probably benign
R9471:Lrrd1	UTSW	5	3863980	missense
R9549:Lrrd1	UTSW	5	3851473	missense	probably benign	0.08
R9557:Lrrd1	UTSW	5	3851432	missense	probably damaging	1.00
R9607:Lrrd1	UTSW	5	3851561	missense	probably damaging	0.99
R9725:Lrrd1	UTSW	5	3851147	missense	probably benign	0.42
R9775:Lrrd1	UTSW	5	3849897	missense	probably benign	0.03
R9778:Lrrd1	UTSW	5	3849982	missense	possibly damaging	0.77
R9785:Lrrd1	UTSW	5	3858708	missense	probably damaging	1.00
Z1176:Lrrd1	UTSW	5	3850025	missense	probably benign	0.09

Posted On

2015-04-16