Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01754:Lrrd1'

153427

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 #

IGL01754

Quality Score

Status

Chromosome

Chromosomal Location

3895173-3916596 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3901432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 579 (D579G)

Ref Sequence

ENSEMBL: ENSMUSP00000038675 (fasta)

Gene Model

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

AlphaFold

Q8C0R9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044039
AA Change: D579G

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

SMART Domains

Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: D579G

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

probably benign
Transcript: ENSMUST00000143027

SMART Domains

Protein: ENSMUSP00000122668
Gene: ENSMUSG00000040367

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 112,708,942 (GRCm39)	C294R	probably damaging	Het
Afap1l1	A	G	18: 61,870,565 (GRCm39)		probably null	Het
Art2a	C	T	7: 101,204,059 (GRCm39)	V160M	probably damaging	Het
Atp8b3	T	C	10: 80,366,795 (GRCm39)		probably null	Het
Cwc22	A	G	2: 77,754,883 (GRCm39)	I231T	probably damaging	Het
Efr3a	C	A	15: 65,726,569 (GRCm39)	A554E	probably damaging	Het
Fads2b	T	C	2: 85,348,899 (GRCm39)	Q71R	probably damaging	Het
Fam3b	T	C	16: 97,277,607 (GRCm39)	T76A	probably benign	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gm4454	T	C	7: 38,268,386 (GRCm39)	T253A	probably damaging	Het
Gpsm2	C	T	3: 108,610,361 (GRCm39)	R33H	probably damaging	Het
Igkv5-39	A	G	6: 69,877,661 (GRCm39)	S12P	probably damaging	Het
Itga10	G	A	3: 96,564,091 (GRCm39)		probably benign	Het
Kng1	A	T	16: 22,898,364 (GRCm39)	D407V	probably benign	Het
Plcg1	C	A	2: 160,603,353 (GRCm39)	Q1175K	probably damaging	Het
Scml4	T	A	10: 42,833,746 (GRCm39)		probably benign	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc5a4b	A	G	10: 75,906,449 (GRCm39)	L390P	probably damaging	Het
Tectb	A	G	19: 55,172,445 (GRCm39)	Q164R	probably damaging	Het
Trim52	C	T	14: 106,344,623 (GRCm39)	Q94*	probably null	Het
Usp17ld	A	C	7: 102,899,870 (GRCm39)	V354G	probably benign	Het
Usp43	T	C	11: 67,747,007 (GRCm39)	H895R	probably benign	Het
Vmn2r24	T	C	6: 123,781,120 (GRCm39)	L442P	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
IGL00911:Lrrd1	APN	5	3,915,689 (GRCm39)	missense	probably benign	0.07
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

2014-02-04