Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00911:Lrrd1'

27399

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: 0.082) question?

Stock #

IGL00911

Quality Score

Status

Chromosome

Chromosomal Location

3895173-3916596 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3915689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 762 (N762T)

Ref Sequence

ENSEMBL: ENSMUSP00000038675 (fasta)

Gene Model

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

AlphaFold

Q8C0R9

Predicted Effect

probably benign
Transcript: ENSMUST00000044039
AA Change: N762T

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: N762T

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	T	C	5: 90,673,450 (GRCm39)	V234A	probably benign	Het
Alas1	T	A	9: 106,113,671 (GRCm39)	I525F	probably benign	Het
Ambra1	T	A	2: 91,598,027 (GRCm39)		probably benign	Het
Apbb2	G	A	5: 66,608,855 (GRCm39)	T264M	probably damaging	Het
Arb2a	T	A	13: 78,100,094 (GRCm39)		probably benign	Het
Arhgap40	A	G	2: 158,376,636 (GRCm39)		probably benign	Het
Chd9	C	T	8: 91,778,320 (GRCm39)	P2793L	probably damaging	Het
Clstn1	T	G	4: 149,727,648 (GRCm39)		probably benign	Het
Cyp2f2	T	C	7: 26,821,354 (GRCm39)	V13A	probably damaging	Het
Dnah1	C	T	14: 31,026,391 (GRCm39)		probably null	Het
Eogt	A	T	6: 97,096,961 (GRCm39)	V349E	probably damaging	Het
Epb41	T	C	4: 131,717,095 (GRCm39)	D353G	possibly damaging	Het
Fbxo38	T	A	18: 62,663,871 (GRCm39)	I207F	possibly damaging	Het
Frem2	T	C	3: 53,479,883 (GRCm39)	S1937G	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnh3	G	T	15: 99,130,882 (GRCm39)	G500*	probably null	Het
Khdc1b	A	T	1: 21,454,578 (GRCm39)	K94*	probably null	Het
Lpcat2	T	C	8: 93,617,338 (GRCm39)	Y367H	probably damaging	Het
Mbl2	T	A	19: 30,215,794 (GRCm39)	D100E	possibly damaging	Het
Mthfr	T	G	4: 148,125,759 (GRCm39)	S31A	probably benign	Het
Nrp1	T	A	8: 129,202,688 (GRCm39)	S558T	probably benign	Het
Nrxn3	T	C	12: 90,171,366 (GRCm39)	L1254P	probably damaging	Het
Or2ag12	A	T	7: 106,277,040 (GRCm39)	Y218N	probably damaging	Het
Pabpc1l	C	A	2: 163,884,343 (GRCm39)	T360K	probably damaging	Het
Pcgf1	G	A	6: 83,057,606 (GRCm39)	G92S	probably damaging	Het
Penk	T	C	4: 4,134,347 (GRCm39)	Y100C	probably damaging	Het
Pik3r1	T	C	13: 101,894,169 (GRCm39)		probably benign	Het
Pkhd1	T	A	1: 20,187,971 (GRCm39)	T3446S	probably benign	Het
Plcg2	G	A	8: 118,313,254 (GRCm39)	D473N	probably benign	Het
Poll	G	T	19: 45,542,040 (GRCm39)	T422K	probably damaging	Het
Skint3	T	A	4: 112,113,106 (GRCm39)		probably benign	Het
Stab2	C	A	10: 86,805,617 (GRCm39)	C243F	probably damaging	Het
Supt6	T	C	11: 78,122,007 (GRCm39)	E215G	possibly damaging	Het
Tas1r2	C	A	4: 139,387,602 (GRCm39)	P354T	probably benign	Het
Tenm2	G	A	11: 35,899,560 (GRCm39)	Q2533*	probably null	Het
Tmem121	C	T	12: 113,151,851 (GRCm39)	A23V	probably damaging	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
IGL00329:Lrrd1	APN	5	3,900,081 (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
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

2013-04-17