Mutagenetix > Incidental Mutation

Incidental Mutation 'R0138:Lrrd1'

22094

Institutional Source

Beutler Lab

Gene Symbol

Lrrd1

Ensembl Gene

ENSMUSG00000040367

Gene Name

leucine rich repeats and death domain containing 1

Synonyms

4932412H11Rik

MMRRC Submission

038423-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R0138 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

3845173-3866596 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3851345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 550 (V550E)

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: V550E

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000038675
Gene: ENSMUSG00000040367
AA Change: V550E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,105,449	N693K	probably damaging	Het
Adgrl3	T	A	5: 81,693,607	V845D	probably damaging	Het
Anxa8	T	A	14: 34,097,939	F269Y	probably benign	Het
Anxa8	T	A	14: 34,097,940	F295L	possibly damaging	Het
Aox4	C	G	1: 58,228,866	L202V	probably damaging	Het
Ap3s2	A	G	7: 79,909,869	V104A	probably benign	Het
Aqp3	G	A	4: 41,094,843		probably benign	Het
Arhgef26	C	T	3: 62,448,259	H751Y	probably benign	Het
Asic4	A	T	1: 75,469,687	Q291L	possibly damaging	Het
Bap1	T	C	14: 31,256,724	Y31H	probably damaging	Het
Brf1	A	T	12: 112,961,139	V655D	probably damaging	Het
Cebpz	A	G	17: 78,931,391	S663P	probably benign	Het
Ces2h	A	G	8: 105,018,061	D357G	probably benign	Het
Cfap36	T	C	11: 29,244,073	T90A	probably benign	Het
Ciita	A	T	16: 10,512,270	D803V	probably damaging	Het
Clnk	C	A	5: 38,774,608		probably benign	Het
Cyp46a1	A	G	12: 108,351,211	N158S	probably damaging	Het
Cyp4f13	A	G	17: 32,941,106	I98T	possibly damaging	Het
Def8	G	A	8: 123,456,495	A278T	probably damaging	Het
Dll3	T	A	7: 28,301,321	D103V	possibly damaging	Het
Dnaic1	T	A	4: 41,629,814	M446K	possibly damaging	Het
Dppa4	A	T	16: 48,291,062	T85S	probably benign	Het
Eif4g1	A	T	16: 20,675,345	H57L	probably damaging	Het
Fmnl3	G	C	15: 99,322,738		probably benign	Het
Fn1	T	A	1: 71,624,110	Q1073L	possibly damaging	Het
Foxp4	T	C	17: 47,869,179	D599G	unknown	Het
Frrs1	T	C	3: 116,881,807	V128A	possibly damaging	Het
Gcfc2	G	A	6: 81,949,954	D608N	probably damaging	Het
Gm1043	T	C	5: 37,192,973		probably benign	Het
Gm5148	T	C	3: 37,714,777	E98G	probably benign	Het
Gpr141	T	C	13: 19,752,258	I116V	probably benign	Het
Hic1	T	C	11: 75,167,343	N240S	probably damaging	Het
Hpx	G	A	7: 105,592,238	T322I	probably damaging	Het
Hs3st4	A	T	7: 124,397,193	M361L	probably benign	Het
Ifrd1	A	G	12: 40,207,130		probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Klk1b21	T	A	7: 44,105,895	C173S	probably damaging	Het
Krt25	A	T	11: 99,322,698	V65E	probably benign	Het
Lrrc15	A	T	16: 30,273,449	D357E	possibly damaging	Het
Macf1	A	G	4: 123,440,747	Y1490H	probably damaging	Het
Macrod1	A	G	19: 7,196,916		probably benign	Het
Mcm5	T	A	8: 75,120,880	V435D	probably damaging	Het
Mctp1	C	T	13: 76,827,712	R478C	probably damaging	Het
Med10	T	C	13: 69,811,698		probably benign	Het
Mrpl4	T	C	9: 21,008,592	Y280H	probably benign	Het
Msrb3	T	C	10: 120,851,987	E61G	probably damaging	Het
Myo1c	T	C	11: 75,661,001	Y337H	possibly damaging	Het
Myo7b	T	A	18: 32,010,151	T165S	probably damaging	Het
Myrfl	T	A	10: 116,849,233	R81W	probably damaging	Het
Neil1	T	C	9: 57,143,746		probably benign	Het
Neto2	A	G	8: 85,641,044	I357T	possibly damaging	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nkx6-3	T	C	8: 23,153,591	S3P	probably benign	Het
Olfr652	A	T	7: 104,565,003	I261L	probably benign	Het
Plce1	T	C	19: 38,524,419	I54T	possibly damaging	Het
Prex2	A	T	1: 11,285,043		probably benign	Het
Psapl1	T	A	5: 36,204,631	V189E	probably damaging	Het
Ptdss2	T	G	7: 141,155,319		probably benign	Het
Rnf213	T	C	11: 119,416,496	C661R	probably benign	Het
Rpap1	T	C	2: 119,764,899		probably null	Het
Rrp1b	A	G	17: 32,060,452	T696A	probably benign	Het
Sacm1l	T	A	9: 123,548,917	H87Q	probably benign	Het
Serpinb11	T	A	1: 107,377,530	M212K	probably damaging	Het
Tbc1d22a	C	A	15: 86,299,684	T248K	probably damaging	Het
Tcerg1	C	T	18: 42,568,614		probably benign	Het
Tpst1	T	A	5: 130,101,786	H32Q	probably damaging	Het
Tsc2	A	T	17: 24,599,626	V1412E	possibly damaging	Het
Usp19	C	A	9: 108,501,315	P1326Q	possibly damaging	Het
Vmn1r235	T	A	17: 21,262,334	M307K	probably damaging	Het
Vmn2r58	T	A	7: 41,837,624	T616S	probably damaging	Het
Vps13a	G	A	19: 16,660,499	T2406I	possibly damaging	Het
Zbtb26	T	A	2: 37,436,041	M328L	probably benign	Het
Zp2	A	G	7: 120,137,200	F340S	probably damaging	Het

Other mutations in Lrrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Lrrd1	APN	5	3850573	missense	possibly damaging	0.94
IGL00329:Lrrd1	APN	5	3850081	missense	possibly damaging	0.94
IGL00674:Lrrd1	APN	5	3849773	missense	possibly damaging	0.92
IGL00691:Lrrd1	APN	5	3863929	missense	probably damaging	0.98
IGL00839:Lrrd1	APN	5	3850017	missense	probably benign	0.00
IGL00911:Lrrd1	APN	5	3865689	missense	probably benign	0.07
IGL01754:Lrrd1	APN	5	3851432	missense	probably damaging	1.00
IGL01981:Lrrd1	APN	5	3851267	missense	probably damaging	1.00
IGL02003:Lrrd1	APN	5	3849857	missense	probably damaging	0.99
IGL02223:Lrrd1	APN	5	3850211	missense	probably benign
IGL02477:Lrrd1	APN	5	3865770	missense	probably benign
IGL02609:Lrrd1	APN	5	3858803	missense	probably benign	0.26
IGL02833:Lrrd1	APN	5	3850709	missense	probably damaging	0.98
IGL02886:Lrrd1	APN	5	3851534	missense	probably benign	0.00
IGL02896:Lrrd1	APN	5	3851473	missense	probably benign	0.08
R0045:Lrrd1	UTSW	5	3866418	missense	possibly damaging	0.50
R0305:Lrrd1	UTSW	5	3865707	missense	probably damaging	1.00
R0346:Lrrd1	UTSW	5	3850215	missense	probably benign	0.03
R0455:Lrrd1	UTSW	5	3866425	missense	probably benign	0.21
R1717:Lrrd1	UTSW	5	3850580	missense	probably damaging	0.99
R1719:Lrrd1	UTSW	5	3850483	splice site	probably null
R1836:Lrrd1	UTSW	5	3865709	missense	probably benign	0.36
R1951:Lrrd1	UTSW	5	3851488	missense	probably damaging	1.00
R2199:Lrrd1	UTSW	5	3866478	missense	possibly damaging	0.86
R3751:Lrrd1	UTSW	5	3850282	missense	probably benign	0.37
R3752:Lrrd1	UTSW	5	3850282	missense	probably benign	0.37
R3837:Lrrd1	UTSW	5	3850204	missense	possibly damaging	0.73
R3862:Lrrd1	UTSW	5	3851248	missense	probably benign	0.00
R3863:Lrrd1	UTSW	5	3851248	missense	probably benign	0.00
R3864:Lrrd1	UTSW	5	3851248	missense	probably benign	0.00
R4816:Lrrd1	UTSW	5	3851126	nonsense	probably null
R5225:Lrrd1	UTSW	5	3858735	missense	probably benign	0.00
R5721:Lrrd1	UTSW	5	3850619	missense	probably benign	0.13
R5791:Lrrd1	UTSW	5	3851254	missense	probably benign	0.11
R6077:Lrrd1	UTSW	5	3850837	missense	probably benign	0.01
R6229:Lrrd1	UTSW	5	3863887	missense	probably damaging	1.00
R6330:Lrrd1	UTSW	5	3850629	missense	probably damaging	1.00
R6588:Lrrd1	UTSW	5	3851386	missense	probably benign	0.19
R6734:Lrrd1	UTSW	5	3850226	missense	possibly damaging	0.95
R6932:Lrrd1	UTSW	5	3851395	missense	probably benign	0.06
R7180:Lrrd1	UTSW	5	3851459	missense	probably damaging	1.00
R7771:Lrrd1	UTSW	5	3866476	missense	possibly damaging	0.84
R8356:Lrrd1	UTSW	5	3866509	missense	probably benign	0.19
R9031:Lrrd1	UTSW	5	3850963	nonsense	probably null
R9208:Lrrd1	UTSW	5	3850995	missense	probably damaging	0.97
R9344:Lrrd1	UTSW	5	3858819	missense	possibly damaging	0.59
R9381:Lrrd1	UTSW	5	3851074	missense	probably benign	0.43
R9400:Lrrd1	UTSW	5	3849677	unclassified	probably benign
R9471:Lrrd1	UTSW	5	3863980	missense
R9549:Lrrd1	UTSW	5	3851473	missense	probably benign	0.08
R9557:Lrrd1	UTSW	5	3851432	missense	probably damaging	1.00
R9607:Lrrd1	UTSW	5	3851561	missense	probably damaging	0.99
R9725:Lrrd1	UTSW	5	3851147	missense	probably benign	0.42
R9775:Lrrd1	UTSW	5	3849897	missense	probably benign	0.03
R9778:Lrrd1	UTSW	5	3849982	missense	possibly damaging	0.77
R9785:Lrrd1	UTSW	5	3858708	missense	probably damaging	1.00
Z1176:Lrrd1	UTSW	5	3850025	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TTGTGTGCTTTGCAATCACTTGACTAC -3'
(R):5'- GAGTTTGAAGTTGGCACAGTTCAACAG -3'

Sequencing Primer
(F):5'- GTTCAGTAAGCAGCTGCTTC -3'
(R):5'- GCACAGTTCAACAGGAAAATTTG -3'

Posted On

2013-04-12