Mutagenetix > Incidental Mutation

Incidental Mutation 'R6229:Lrrd1'

504544

Institutional Source

Beutler Lab

Gene Symbol

Lrrd1

Ensembl Gene

ENSMUSG00000040367

Gene Name

leucine rich repeats and death domain containing 1

Synonyms

4932412H11Rik

MMRRC Submission

044358-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3895173-3916596 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3913887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 719 (I719T)

Ref Sequence

ENSEMBL: ENSMUSP00000038675 (fasta)

Gene Model

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

AlphaFold

Q8C0R9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044039
AA Change: I719T

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

SMART Domains

Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: I719T

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

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.0%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	A	1: 120,099,213 (GRCm39)		probably null	Het
Adamts6	G	A	13: 104,483,900 (GRCm39)		probably null	Het
Add3	C	A	19: 53,223,277 (GRCm39)	A343D	probably benign	Het
Ankub1	T	C	3: 57,572,528 (GRCm39)	D398G	probably benign	Het
Apbb1	C	T	7: 105,222,937 (GRCm39)	A225T	probably damaging	Het
Apbb1	C	A	7: 105,222,938 (GRCm39)	W224C	probably damaging	Het
Arhgef40	A	T	14: 52,227,547 (GRCm39)	Q431L	probably benign	Het
Calm4	A	G	13: 3,888,038 (GRCm39)	D48G	possibly damaging	Het
Ccdc18	A	T	5: 108,319,484 (GRCm39)	I502L	probably benign	Het
Cftr	T	C	6: 18,220,683 (GRCm39)	S185P	probably damaging	Het
Chd2	C	A	7: 73,101,471 (GRCm39)	K1418N	possibly damaging	Het
Cmya5	A	C	13: 93,229,814 (GRCm39)	V1758G	probably benign	Het
Cpsf4l	T	C	11: 113,599,680 (GRCm39)	K35R	possibly damaging	Het
Cyp2c68	A	T	19: 39,727,622 (GRCm39)	V119E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah3	G	T	7: 119,564,711 (GRCm39)	Q2651K	probably benign	Het
Eif4g2	T	C	7: 110,676,920 (GRCm39)		probably null	Het
Enc1	A	G	13: 97,381,999 (GRCm39)	R170G	probably benign	Het
Enpp2	T	C	15: 54,741,228 (GRCm39)	R357G	probably damaging	Het
Epb41l2	A	G	10: 25,375,734 (GRCm39)	K58E	possibly damaging	Het
Fis1	A	G	5: 136,994,528 (GRCm39)		probably null	Het
Fmo9	A	C	1: 166,505,126 (GRCm39)	M89R	possibly damaging	Het
Gm6096	A	C	7: 33,950,676 (GRCm39)	I72L	possibly damaging	Het
Golga5	G	A	12: 102,450,740 (GRCm39)	M464I	probably benign	Het
Got1l1	T	C	8: 27,688,464 (GRCm39)		probably null	Het
Ift56	T	A	6: 38,371,975 (GRCm39)	N188K	probably benign	Het
Igfbpl1	A	G	4: 45,813,517 (GRCm39)	Y233H	probably damaging	Het
Il18r1	T	C	1: 40,513,923 (GRCm39)	I43T	probably benign	Het
Ints8	T	C	4: 11,252,891 (GRCm39)	N64D	probably damaging	Het
Kalrn	A	G	16: 33,875,441 (GRCm39)	S44P	probably damaging	Het
Kif13b	G	T	14: 64,976,016 (GRCm39)	G444W	probably damaging	Het
Lmo1	A	G	7: 108,742,832 (GRCm39)	C13R	probably damaging	Het
Lrfn2	T	A	17: 49,404,160 (GRCm39)	M761K	possibly damaging	Het
Madd	A	T	2: 90,974,015 (GRCm39)	V1423E	probably damaging	Het
Mbnl1	T	A	3: 60,528,749 (GRCm39)		probably null	Het
Mrps28	T	C	3: 8,965,097 (GRCm39)	D114G	probably damaging	Het
Muc6	T	A	7: 141,226,792 (GRCm39)	M1412L	probably benign	Het
Myf6	T	C	10: 107,330,280 (GRCm39)	K96E	possibly damaging	Het
Myrf	A	G	19: 10,197,162 (GRCm39)	V462A	probably benign	Het
Nbeal1	T	C	1: 60,287,524 (GRCm39)	S923P	possibly damaging	Het
Nckap1l	T	C	15: 103,381,549 (GRCm39)	L430P	possibly damaging	Het
Nfatc2ip	C	T	7: 125,995,113 (GRCm39)		probably null	Het
Or11g24	A	G	14: 50,662,662 (GRCm39)	R229G	probably benign	Het
Or12e10	G	T	2: 87,640,431 (GRCm39)	C89F	probably damaging	Het
Or2w4	T	C	13: 21,795,819 (GRCm39)	I107V	probably benign	Het
Or7g33	T	A	9: 19,449,014 (GRCm39)	I71F	possibly damaging	Het
Plin2	A	G	4: 86,586,903 (GRCm39)	V5A	probably benign	Het
Pramel31	T	C	4: 144,090,199 (GRCm39)	M413T	probably benign	Het
Ptprm	T	A	17: 66,995,295 (GRCm39)	D1311V	probably damaging	Het
Recql5	A	T	11: 115,821,540 (GRCm39)	I72N	probably damaging	Het
Sall2	A	T	14: 52,550,648 (GRCm39)	M847K	probably benign	Het
Slc23a1	T	C	18: 35,752,577 (GRCm39)	R567G	probably benign	Het
Slc28a1	G	A	7: 80,774,753 (GRCm39)	R200H	probably benign	Het
Smc4	T	A	3: 68,937,580 (GRCm39)	Y843*	probably null	Het
Syne2	C	A	12: 75,967,994 (GRCm39)	Q915K	probably benign	Het
Tas2r131	T	A	6: 132,933,985 (GRCm39)	I275F	probably damaging	Het
Tcf20	T	C	15: 82,739,081 (GRCm39)	H790R	probably damaging	Het
Tm7sf3	A	G	6: 146,514,887 (GRCm39)	F310S	possibly damaging	Het
Tmem9b	T	A	7: 109,344,627 (GRCm39)		probably null	Het
Tnfaip8	A	G	18: 50,184,742 (GRCm39)		probably benign	Het
Top2b	T	G	14: 16,409,838 (GRCm38)	L835R	probably damaging	Het
Trappc8	A	T	18: 21,003,802 (GRCm39)	S209T	probably benign	Het
Uap1	C	T	1: 169,994,302 (GRCm39)	R58Q	probably benign	Het
Upk3bl	A	G	5: 136,092,915 (GRCm39)		probably null	Het
Usp34	A	G	11: 23,396,778 (GRCm39)	H596R	probably damaging	Het
Vmn1r181	C	T	7: 23,683,580 (GRCm39)	A15V	probably damaging	Het
Vmn2r54	T	A	7: 12,365,883 (GRCm39)	K350N	probably benign	Het
Vmn2r89	A	G	14: 51,693,178 (GRCm39)	H176R	probably benign	Het
Vwa7	A	G	17: 35,243,241 (GRCm39)	R640G	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GCCATGACAGTAGACTTCTGC -3'
(R):5'- TGACCTCCACATAAAGGAAGATGG -3'

Sequencing Primer
(F):5'- GACAGTAGACTTCTGCATGCATAGC -3'
(R):5'- TTTATGCCAGATCAAAGTCTCCAAAC -3'

Posted On

2018-02-28