Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02896:Lrrd1'

363419

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 #

IGL02896

Quality Score

Status

Chromosome

Chromosomal Location

3895173-3916596 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3901473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 593 (S593T)

Ref Sequence

ENSEMBL: ENSMUSP00000038675 (fasta)

Gene Model

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

AlphaFold

Q8C0R9

Predicted Effect

probably benign
Transcript: ENSMUST00000044039
AA Change: S593T

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: S593T

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	G	8: 88,315,648 (GRCm39)	D246G	probably damaging	Het
Adcy2	A	G	13: 68,875,991 (GRCm39)	S504P	probably damaging	Het
Adgrv1	A	T	13: 81,668,858 (GRCm39)	I2566K	probably damaging	Het
Als2	A	G	1: 59,222,946 (GRCm39)	V1108A	probably benign	Het
Atad2b	T	A	12: 5,008,151 (GRCm39)	F466I	probably damaging	Het
Cyp2a22	T	C	7: 26,635,886 (GRCm39)	M226V	probably damaging	Het
D5Ertd579e	T	C	5: 36,771,326 (GRCm39)	D1023G	possibly damaging	Het
D630003M21Rik	T	C	2: 158,059,205 (GRCm39)	I232V	probably benign	Het
Dolpp1	T	C	2: 30,286,242 (GRCm39)	S114P	probably damaging	Het
Fars2	T	A	13: 36,388,825 (GRCm39)	S105T	probably benign	Het
Fndc7	T	C	3: 108,770,247 (GRCm39)	I560V	probably benign	Het
Gcn1	T	C	5: 115,757,707 (GRCm39)		probably benign	Het
Gm5134	T	C	10: 75,810,058 (GRCm39)	L113P	possibly damaging	Het
Hipk2	G	T	6: 38,675,382 (GRCm39)	H1066Q	probably damaging	Het
Katnb1	A	G	8: 95,822,656 (GRCm39)		probably benign	Het
Mastl	T	C	2: 23,021,779 (GRCm39)	R713G	probably damaging	Het
Meak7	T	C	8: 120,489,164 (GRCm39)	D373G	probably damaging	Het
Mrgpra6	T	A	7: 46,838,655 (GRCm39)	D181V	probably benign	Het
Mroh7	C	T	4: 106,557,013 (GRCm39)	V828I	possibly damaging	Het
Nbeal2	A	G	9: 110,468,360 (GRCm39)		probably null	Het
Nckap5l	G	T	15: 99,325,091 (GRCm39)	Q471K	possibly damaging	Het
Or12j5	T	C	7: 140,083,968 (GRCm39)		probably null	Het
Or1j15	A	T	2: 36,459,217 (GRCm39)	L202F	possibly damaging	Het
Or5an1c	A	T	19: 12,218,353 (GRCm39)	L224*	probably null	Het
Pfn4	A	G	12: 4,825,451 (GRCm39)	N96S	probably benign	Het
Ppp1r3c	G	A	19: 36,710,865 (GRCm39)	P302S	probably benign	Het
Senp2	T	G	16: 21,837,118 (GRCm39)	Y122*	probably null	Het
Slc5a7	C	A	17: 54,600,045 (GRCm39)	G123*	probably null	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tent2	A	T	13: 93,304,945 (GRCm39)	N280K	probably damaging	Het
Th	C	T	7: 142,449,168 (GRCm39)	R289Q	probably damaging	Het
Tigit	C	T	16: 43,482,561 (GRCm39)	V58I	probably benign	Het
Ush1c	C	A	7: 45,847,839 (GRCm39)	V810L	probably benign	Het
Vmn2r120	C	A	17: 57,816,008 (GRCm39)	K782N	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
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
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

2015-12-18