Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00329:Lrrd1'

12422

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: 0.080) question?

Stock #

IGL00329

Quality Score

Status

Chromosome

Chromosomal Location

3895173-3916596 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3900081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 129 (K129E)

Ref Sequence

ENSEMBL: ENSMUSP00000122668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044039] [ENSMUST00000143027] [ENSMUST00000200386]

AlphaFold

Q8C0R9

Predicted Effect

probably benign
Transcript: ENSMUST00000044039
AA Change: K129E

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

SMART Domains

Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: K129E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143027
AA Change: K129E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122668
Gene: ENSMUSG00000040367
AA Change: K129E

Domain	Start	End	E-Value	Type
low complexity region	89	101	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200386

SMART Domains

Protein: ENSMUSP00000143559
Gene: ENSMUSG00000000600

Domain	Start	End	E-Value	Type
Pfam:NUDIX_5	22	198	8.1e-85	PFAM
ANK	306	334	7.5e-4	SMART
B41	368	592	9.1e-42	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	G	3: 36,123,911 (GRCm39)	N72S	probably benign	Het
Aopep	T	A	13: 63,338,977 (GRCm39)	I623N	probably damaging	Het
Apba3	C	T	10: 81,108,901 (GRCm39)	P555S	probably damaging	Het
Arcn1	C	A	9: 44,670,333 (GRCm39)	E98*	probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Col28a1	G	T	6: 8,175,425 (GRCm39)	T141K	probably damaging	Het
Dna2	T	C	10: 62,802,222 (GRCm39)	F811S	probably damaging	Het
Dusp19	T	A	2: 80,461,269 (GRCm39)	I186K	probably damaging	Het
Dync2li1	A	G	17: 84,952,154 (GRCm39)	D195G	possibly damaging	Het
Epm2aip1	T	C	9: 111,101,855 (GRCm39)	V276A	possibly damaging	Het
Extl3	T	C	14: 65,313,070 (GRCm39)	E704G	probably benign	Het
Gle1	T	C	2: 29,829,301 (GRCm39)		probably benign	Het
Gm2178	C	A	14: 26,235,767 (GRCm39)		probably benign	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Herc2	T	A	7: 55,774,047 (GRCm39)	L1166Q	probably damaging	Het
Hsd11b2	A	G	8: 106,249,759 (GRCm39)	E290G	probably benign	Het
Inpp5d	T	C	1: 87,595,725 (GRCm39)	V157A	probably benign	Het
Krt72	T	A	15: 101,693,434 (GRCm39)	Q160L	probably damaging	Het
Mapk13	A	G	17: 28,995,379 (GRCm39)	Y200C	probably damaging	Het
Mme	G	A	3: 63,287,749 (GRCm39)	W750*	probably null	Het
Nat8l	C	T	5: 34,155,761 (GRCm39)	P139L	probably damaging	Het
Nrtn	C	A	17: 57,058,569 (GRCm39)	R144L	probably benign	Het
Or52h9	C	A	7: 104,202,299 (GRCm39)	P58T	probably benign	Het
Pate12	G	A	9: 36,344,198 (GRCm39)		probably benign	Het
Pdgfa	T	A	5: 138,974,216 (GRCm39)		probably benign	Het
Rtp3	A	G	9: 110,815,666 (GRCm39)	V233A	probably benign	Het
Syne2	A	G	12: 76,078,474 (GRCm39)		probably benign	Het
Trappc10	A	T	10: 78,039,711 (GRCm39)		probably benign	Het
Usp24	A	G	4: 106,216,288 (GRCm39)	T380A	probably benign	Het
Vmn1r21	A	T	6: 57,821,049 (GRCm39)	S132T	probably benign	Het

Other mutations in Lrrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Lrrd1	APN	5	3,900,573 (GRCm39)	missense	possibly damaging	0.94
IGL00674:Lrrd1	APN	5	3,899,773 (GRCm39)	missense	possibly damaging	0.92
IGL00691:Lrrd1	APN	5	3,913,929 (GRCm39)	missense	probably damaging	0.98
IGL00839:Lrrd1	APN	5	3,900,017 (GRCm39)	missense	probably benign	0.00
IGL00911:Lrrd1	APN	5	3,915,689 (GRCm39)	missense	probably benign	0.07
IGL01754:Lrrd1	APN	5	3,901,432 (GRCm39)	missense	probably damaging	1.00
IGL01981:Lrrd1	APN	5	3,901,267 (GRCm39)	missense	probably damaging	1.00
IGL02003:Lrrd1	APN	5	3,899,857 (GRCm39)	missense	probably damaging	0.99
IGL02223:Lrrd1	APN	5	3,900,211 (GRCm39)	missense	probably benign
IGL02477:Lrrd1	APN	5	3,915,770 (GRCm39)	missense	probably benign
IGL02609:Lrrd1	APN	5	3,908,803 (GRCm39)	missense	probably benign	0.26
IGL02833:Lrrd1	APN	5	3,900,709 (GRCm39)	missense	probably damaging	0.98
IGL02886:Lrrd1	APN	5	3,901,534 (GRCm39)	missense	probably benign	0.00
IGL02896:Lrrd1	APN	5	3,901,473 (GRCm39)	missense	probably benign	0.08
R0045:Lrrd1	UTSW	5	3,916,418 (GRCm39)	missense	possibly damaging	0.50
R0138:Lrrd1	UTSW	5	3,901,345 (GRCm39)	missense	probably benign	0.04
R0305:Lrrd1	UTSW	5	3,915,707 (GRCm39)	missense	probably damaging	1.00
R0346:Lrrd1	UTSW	5	3,900,215 (GRCm39)	missense	probably benign	0.03
R0455:Lrrd1	UTSW	5	3,916,425 (GRCm39)	missense	probably benign	0.21
R1717:Lrrd1	UTSW	5	3,900,580 (GRCm39)	missense	probably damaging	0.99
R1719:Lrrd1	UTSW	5	3,900,483 (GRCm39)	splice site	probably null
R1836:Lrrd1	UTSW	5	3,915,709 (GRCm39)	missense	probably benign	0.36
R1951:Lrrd1	UTSW	5	3,901,488 (GRCm39)	missense	probably damaging	1.00
R2199:Lrrd1	UTSW	5	3,916,478 (GRCm39)	missense	possibly damaging	0.86
R3751:Lrrd1	UTSW	5	3,900,282 (GRCm39)	missense	probably benign	0.37
R3752:Lrrd1	UTSW	5	3,900,282 (GRCm39)	missense	probably benign	0.37
R3837:Lrrd1	UTSW	5	3,900,204 (GRCm39)	missense	possibly damaging	0.73
R3862:Lrrd1	UTSW	5	3,901,248 (GRCm39)	missense	probably benign	0.00
R3863:Lrrd1	UTSW	5	3,901,248 (GRCm39)	missense	probably benign	0.00
R3864:Lrrd1	UTSW	5	3,901,248 (GRCm39)	missense	probably benign	0.00
R4816:Lrrd1	UTSW	5	3,901,126 (GRCm39)	nonsense	probably null
R5225:Lrrd1	UTSW	5	3,908,735 (GRCm39)	missense	probably benign	0.00
R5721:Lrrd1	UTSW	5	3,900,619 (GRCm39)	missense	probably benign	0.13
R5791:Lrrd1	UTSW	5	3,901,254 (GRCm39)	missense	probably benign	0.11
R6077:Lrrd1	UTSW	5	3,900,837 (GRCm39)	missense	probably benign	0.01
R6229:Lrrd1	UTSW	5	3,913,887 (GRCm39)	missense	probably damaging	1.00
R6330:Lrrd1	UTSW	5	3,900,629 (GRCm39)	missense	probably damaging	1.00
R6588:Lrrd1	UTSW	5	3,901,386 (GRCm39)	missense	probably benign	0.19
R6734:Lrrd1	UTSW	5	3,900,226 (GRCm39)	missense	possibly damaging	0.95
R6932:Lrrd1	UTSW	5	3,901,395 (GRCm39)	missense	probably benign	0.06
R7180:Lrrd1	UTSW	5	3,901,459 (GRCm39)	missense	probably damaging	1.00
R7771:Lrrd1	UTSW	5	3,916,476 (GRCm39)	missense	possibly damaging	0.84
R8356:Lrrd1	UTSW	5	3,916,509 (GRCm39)	missense	probably benign	0.19
R9031:Lrrd1	UTSW	5	3,900,963 (GRCm39)	nonsense	probably null
R9208:Lrrd1	UTSW	5	3,900,995 (GRCm39)	missense	probably damaging	0.97
R9344:Lrrd1	UTSW	5	3,908,819 (GRCm39)	missense	possibly damaging	0.59
R9381:Lrrd1	UTSW	5	3,901,074 (GRCm39)	missense	probably benign	0.43
R9400:Lrrd1	UTSW	5	3,899,677 (GRCm39)	unclassified	probably benign
R9471:Lrrd1	UTSW	5	3,913,980 (GRCm39)	missense
R9549:Lrrd1	UTSW	5	3,901,473 (GRCm39)	missense	probably benign	0.08
R9557:Lrrd1	UTSW	5	3,901,432 (GRCm39)	missense	probably damaging	1.00
R9607:Lrrd1	UTSW	5	3,901,561 (GRCm39)	missense	probably damaging	0.99
R9725:Lrrd1	UTSW	5	3,901,147 (GRCm39)	missense	probably benign	0.42
R9775:Lrrd1	UTSW	5	3,899,897 (GRCm39)	missense	probably benign	0.03
R9778:Lrrd1	UTSW	5	3,899,982 (GRCm39)	missense	possibly damaging	0.77
R9785:Lrrd1	UTSW	5	3,908,708 (GRCm39)	missense	probably damaging	1.00
Z1176:Lrrd1	UTSW	5	3,900,025 (GRCm39)	missense	probably benign	0.09

Posted On

2012-12-06