Mutagenetix > Incidental Mutation

Incidental Mutation 'R4564:Lrrc71'

343230

Institutional Source

Beutler Lab

Gene Symbol

Lrrc71

Ensembl Gene

ENSMUSG00000023084

Gene Name

leucine rich repeat containing 71

Synonyms

4933430H15Rik

MMRRC Submission

041789-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87644230-87655932 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 87652715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023846] [ENSMUST00000029714] [ENSMUST00000079083] [ENSMUST00000090981] [ENSMUST00000172621] [ENSMUST00000174713] [ENSMUST00000174267] [ENSMUST00000174759]

AlphaFold

Q9D3W5

Predicted Effect

probably benign
Transcript: ENSMUST00000023846

SMART Domains

Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Blast:LRR	165	191	6e-7	BLAST
LRR	219	246	4.24e-1	SMART
LRR	251	278	1.33e-1	SMART
LRR	279	306	1.98e-4	SMART
low complexity region	312	323	N/A	INTRINSIC
low complexity region	329	337	N/A	INTRINSIC
low complexity region	376	390	N/A	INTRINSIC
low complexity region	407	414	N/A	INTRINSIC
LRR	472	499	1.83e2	SMART
low complexity region	547	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000029714

SMART Domains

Protein: ENSMUSP00000029714
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079083

SMART Domains

Protein: ENSMUSP00000078090
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090981

SMART Domains

Protein: ENSMUSP00000088503
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172621

SMART Domains

Protein: ENSMUSP00000133474
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174381

Predicted Effect

probably benign
Transcript: ENSMUST00000174713

SMART Domains

Protein: ENSMUSP00000134215
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174581

SMART Domains

Protein: ENSMUSP00000134711
Gene: ENSMUSG00000023084

Domain	Start	End	E-Value	Type
Blast:LRR	67	94	1e-10	BLAST
low complexity region	142	152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174267

SMART Domains

Protein: ENSMUSP00000133626
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174759

SMART Domains

Protein: ENSMUSP00000133323
Gene: ENSMUSG00000028073

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
EGF	102	130	3.82e-2	SMART
EGF_like	132	173	2.92e1	SMART
EGF_like	146	185	1.92e0	SMART
EGF_like	189	246	1.99e0	SMART
EGF	217	258	1.04e1	SMART
EGF_Lam	274	313	1.21e-4	SMART
EGF	312	344	4.03e-1	SMART
EGF_Lam	361	402	1.33e-1	SMART
EGF	401	433	1.18e-2	SMART
EGF_like	449	488	1.72e0	SMART
EGF	487	519	6.92e0	SMART
EGF_Lam	535	574	2.08e-3	SMART
EGF	573	605	5.49e-3	SMART
EGF_Lam	620	660	1.58e-3	SMART
EGF	659	691	3.1e-2	SMART
EGF	702	734	2.53e1	SMART
transmembrane domain	754	776	N/A	INTRINSIC
low complexity region	809	822	N/A	INTRINSIC
low complexity region	829	835	N/A	INTRINSIC
low complexity region	954	971	N/A	INTRINSIC
low complexity region	993	1002	N/A	INTRINSIC
low complexity region	1019	1031	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad3a	C	T	4: 155,831,766 (GRCm39)		probably null	Het
Bach2	T	G	4: 32,563,338 (GRCm39)	S602A	probably damaging	Het
Ccl19	G	T	4: 42,756,295 (GRCm39)	S12R	probably damaging	Het
Cfap54	T	C	10: 92,675,402 (GRCm39)		probably benign	Het
Cndp1	T	A	18: 84,640,411 (GRCm39)	I265F	probably damaging	Het
Cnot3	G	A	7: 3,656,257 (GRCm39)	R181H	probably damaging	Het
Dicer1	T	A	12: 104,671,010 (GRCm39)	K1011*	probably null	Het
Dip2b	G	A	15: 100,055,139 (GRCm39)	W99*	probably null	Het
Fpr-rs6	A	T	17: 20,403,168 (GRCm39)	Y64*	probably null	Het
Fubp1	C	A	3: 151,928,573 (GRCm39)	Y480*	probably null	Het
Gfra1	T	C	19: 58,227,682 (GRCm39)		probably null	Het
Gm10770	T	C	2: 150,020,831 (GRCm39)	T229A	probably benign	Het
Gm826	A	C	2: 160,153,913 (GRCm39)		probably benign	Het
Gpd2	G	A	2: 57,197,095 (GRCm39)	V217I	possibly damaging	Het
Hectd4	T	C	5: 121,488,494 (GRCm39)	I3595T	probably benign	Het
Lmln	A	G	16: 32,930,226 (GRCm39)	E561G	probably benign	Het
Man2a2	T	A	7: 80,018,586 (GRCm39)	Y91F	probably benign	Het
Map4k4	A	G	1: 40,028,135 (GRCm39)	T319A	probably damaging	Het
Mcm6	G	T	1: 128,271,196 (GRCm39)	H474Q	probably damaging	Het
Mn1	C	G	5: 111,568,533 (GRCm39)	N834K	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Niban3	T	C	8: 72,057,704 (GRCm39)		probably benign	Het
Npas2	A	G	1: 39,326,647 (GRCm39)	D44G	probably damaging	Het
Npc1	C	T	18: 12,324,789 (GRCm39)	G1235R	probably damaging	Het
Olfml2a	C	T	2: 38,850,306 (GRCm39)	T674I	probably benign	Het
Or4f58	A	G	2: 111,852,112 (GRCm39)	L29P	possibly damaging	Het
Pgap6	A	G	17: 26,336,837 (GRCm39)	R252G	possibly damaging	Het
Plxnb1	C	T	9: 108,942,488 (GRCm39)	A1779V	probably benign	Het
Ppil3	T	A	1: 58,470,481 (GRCm39)	D123V	probably damaging	Het
Prr23a3	A	G	9: 98,747,190 (GRCm39)	E48G	probably damaging	Het
Prr5l	T	C	2: 101,577,094 (GRCm39)	E110G	probably damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
R3hdm1	C	T	1: 128,149,396 (GRCm39)	T839M	probably benign	Het
Rasgrf2	G	A	13: 92,033,773 (GRCm39)	Q544*	probably null	Het
Riok3	C	A	18: 12,281,936 (GRCm39)	R302S	probably damaging	Het
Rnf145	A	G	11: 44,439,635 (GRCm39)	K144E	probably benign	Het
Sin3b	A	C	8: 73,480,209 (GRCm39)	T904P	probably damaging	Het
Skint4	C	T	4: 111,977,066 (GRCm39)	T152M	probably damaging	Het
Slc22a2	A	G	17: 12,828,943 (GRCm39)	I350V	probably benign	Het
Slc6a11	G	T	6: 114,108,323 (GRCm39)	G29V	probably benign	Het
Speg	A	C	1: 75,368,478 (GRCm39)	H676P	probably damaging	Het
St6gal2	T	A	17: 55,789,648 (GRCm39)	H227Q	probably damaging	Het
Strn3	A	G	12: 51,680,404 (GRCm39)	S399P	probably benign	Het
Tbc1d1	A	G	5: 64,330,827 (GRCm39)	E2G	probably damaging	Het
Tecpr2	T	A	12: 110,921,219 (GRCm39)	M1264K	probably benign	Het
Trpm6	T	C	19: 18,809,961 (GRCm39)	L1119P	possibly damaging	Het
Upf2	A	C	2: 6,032,123 (GRCm39)	T890P	unknown	Het
Upk1b	T	A	16: 38,600,469 (GRCm39)	K170N	probably benign	Het
Vmn1r78	A	T	7: 11,886,485 (GRCm39)	Y32F	probably damaging	Het
Vps11	A	G	9: 44,272,894 (GRCm39)	F12S	probably damaging	Het
Zfp318	T	A	17: 46,723,741 (GRCm39)	C1915S	possibly damaging	Het
Zfp346	A	C	13: 55,261,520 (GRCm39)	R103S	probably damaging	Het

Other mutations in Lrrc71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02030:Lrrc71	APN	3	87,652,531 (GRCm39)	splice site	probably null
IGL02387:Lrrc71	APN	3	87,650,378 (GRCm39)	missense	probably damaging	0.96
IGL02632:Lrrc71	APN	3	87,650,647 (GRCm39)	missense	probably damaging	1.00
IGL02701:Lrrc71	APN	3	87,649,079 (GRCm39)	missense	probably benign	0.37
R0372:Lrrc71	UTSW	3	87,653,084 (GRCm39)	missense	probably benign	0.40
R0505:Lrrc71	UTSW	3	87,653,006 (GRCm39)	missense	probably damaging	0.98
R0827:Lrrc71	UTSW	3	87,649,952 (GRCm39)	splice site	probably null
R1511:Lrrc71	UTSW	3	87,652,791 (GRCm39)	missense	probably benign	0.00
R1541:Lrrc71	UTSW	3	87,649,148 (GRCm39)	missense	possibly damaging	0.87
R1987:Lrrc71	UTSW	3	87,649,950 (GRCm39)	missense	probably benign	0.25
R2054:Lrrc71	UTSW	3	87,649,980 (GRCm39)	missense	probably damaging	1.00
R2143:Lrrc71	UTSW	3	87,652,828 (GRCm39)	nonsense	probably null
R2427:Lrrc71	UTSW	3	87,653,309 (GRCm39)	missense	probably benign
R3700:Lrrc71	UTSW	3	87,653,185 (GRCm39)	splice site	probably null
R4073:Lrrc71	UTSW	3	87,652,569 (GRCm39)	missense	probably benign	0.01
R4231:Lrrc71	UTSW	3	87,648,298 (GRCm39)	missense	probably benign	0.01
R4431:Lrrc71	UTSW	3	87,650,143 (GRCm39)	missense	possibly damaging	0.59
R4477:Lrrc71	UTSW	3	87,649,972 (GRCm39)	missense	probably damaging	0.99
R4562:Lrrc71	UTSW	3	87,652,715 (GRCm39)	unclassified	probably benign
R4563:Lrrc71	UTSW	3	87,652,715 (GRCm39)	unclassified	probably benign
R4724:Lrrc71	UTSW	3	87,646,481 (GRCm39)	missense	probably damaging	0.97
R4826:Lrrc71	UTSW	3	87,650,615 (GRCm39)	missense	probably benign	0.33
R5156:Lrrc71	UTSW	3	87,653,094 (GRCm39)	missense	probably benign	0.07
R5631:Lrrc71	UTSW	3	87,646,456 (GRCm39)	missense	probably benign	0.00
R6182:Lrrc71	UTSW	3	87,653,101 (GRCm39)	missense	probably benign	0.41
R6558:Lrrc71	UTSW	3	87,649,950 (GRCm39)	missense	probably benign	0.25
R6885:Lrrc71	UTSW	3	87,649,927 (GRCm39)	splice site	probably null
R7036:Lrrc71	UTSW	3	87,655,693 (GRCm39)	missense	probably benign	0.00
R7199:Lrrc71	UTSW	3	87,650,384 (GRCm39)	missense	probably damaging	1.00
R7211:Lrrc71	UTSW	3	87,650,633 (GRCm39)	missense	possibly damaging	0.92
R7634:Lrrc71	UTSW	3	87,650,281 (GRCm39)	missense	probably damaging	1.00
R7638:Lrrc71	UTSW	3	87,649,113 (GRCm39)	missense	probably damaging	1.00
R7695:Lrrc71	UTSW	3	87,646,769 (GRCm39)	missense	probably damaging	1.00
R8971:Lrrc71	UTSW	3	87,647,153 (GRCm39)	missense	possibly damaging	0.78
R9041:Lrrc71	UTSW	3	87,650,660 (GRCm39)	missense	probably damaging	0.97
R9427:Lrrc71	UTSW	3	87,650,368 (GRCm39)	missense	probably benign
R9583:Lrrc71	UTSW	3	87,650,258 (GRCm39)	missense	possibly damaging	0.78
Z1177:Lrrc71	UTSW	3	87,650,128 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCACAACTGACCTGAGTGTG -3'
(R):5'- ACTCATTACGCCAGCGCATC -3'

Sequencing Primer
(F):5'- CTGACCTGAGTGTGGAGGAAC -3'
(R):5'- TCACGGGCTCACAATTCATG -3'

Posted On

2015-09-24