Mutagenetix > Incidental Mutations

Incidental Mutation 'R4231:Lrrc71'

320832

Institutional Source

Beutler Lab

Gene Symbol

Lrrc71

Ensembl Gene

ENSMUSG00000023084

Gene Name

leucine rich repeat containing 71

Synonyms

MMRRC Submission

041050-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4231 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87736923-87748625 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87740991 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 438 (I438T)

Ref Sequence

ENSEMBL: ENSMUSP00000023846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023846] [ENSMUST00000039476] [ENSMUST00000152006]

AlphaFold

Q9D3W5

Predicted Effect

probably benign
Transcript: ENSMUST00000023846
AA Change: I438T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084
AA Change: I438T

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: ENSMUST00000039476

SMART Domains

Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
PDZ	55	123	2.45e-18	SMART
low complexity region	149	160	N/A	INTRINSIC
coiled coil region	205	231	N/A	INTRINSIC
RGS	353	472	3.36e-11	SMART
low complexity region	554	565	N/A	INTRINSIC
low complexity region	625	639	N/A	INTRINSIC
low complexity region	681	694	N/A	INTRINSIC
RhoGEF	768	952	1.11e-65	SMART
PH	996	1111	9.49e-6	SMART
low complexity region	1153	1166	N/A	INTRINSIC
low complexity region	1176	1188	N/A	INTRINSIC
low complexity region	1333	1343	N/A	INTRINSIC
low complexity region	1357	1367	N/A	INTRINSIC
low complexity region	1478	1490	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152006

SMART Domains

Protein: ENSMUSP00000122166
Gene: ENSMUSG00000041977

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
PDZ	55	123	2.45e-18	SMART
low complexity region	149	160	N/A	INTRINSIC
coiled coil region	205	231	N/A	INTRINSIC
RGS	353	472	3.36e-11	SMART
low complexity region	554	565	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174208

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174381

Predicted Effect

unknown
Transcript: ENSMUST00000174581
AA Change: I19T

SMART Domains

Protein: ENSMUSP00000134711
Gene: ENSMUSG00000023084
AA Change: I19T

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

Meta Mutation Damage Score

0.0619

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
4932438A13Rik	C	T	3: 36,920,236	T663I	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	A	T	12: 53,141,038	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 24,911,653	G494R	probably damaging	Het
Ankar	T	C	1: 72,658,542	D1034G	probably benign	Het
Aox3	T	A	1: 58,114,885	N23K	probably benign	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Cacnb2	A	G	2: 14,981,440	K343E	probably damaging	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Cd93	A	T	2: 148,442,960	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,752,835	M1V	probably null	Het
Crat	T	C	2: 30,413,011	E88G	possibly damaging	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,319,470	P94S	probably damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Fam196b	A	T	11: 34,403,143	E395V	probably benign	Het
Filip1l	T	C	16: 57,506,768	S54P	probably benign	Het
Gm12887	A	T	4: 121,622,102	M1K	probably null	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Irak2	A	G	6: 113,690,856	E466G	probably damaging	Het
Irgm2	C	T	11: 58,219,478		probably benign	Het
Jak3	T	A	8: 71,685,545	V880D	probably damaging	Het
Jmy	G	T	13: 93,498,925	P128T	probably benign	Het
Kif20a	A	G	18: 34,632,038	N775S	probably benign	Het
Kremen1	G	A	11: 5,243,881	Q50*	probably null	Het
Map3k1	T	C	13: 111,768,494	T374A	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mta1	T	C	12: 113,135,827	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,599,913	Q13L	probably benign	Het
Nbas	A	G	12: 13,393,343	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,619,541	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr1293-ps	C	T	2: 111,528,201	R314C	probably damaging	Het
Olfr53	T	C	7: 140,652,740	Y254H	probably damaging	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	G	1: 97,884,124		probably null	Het
Pcdh7	G	A	5: 57,719,289	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,644,454	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Ptprq	A	T	10: 107,686,283	Y602*	probably null	Het
Rfx4	A	T	10: 84,814,694	M84L	probably benign	Het
Rfx7	A	T	9: 72,619,390	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf216	A	T	5: 143,093,090	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,808,900	V402A	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sart3	A	G	5: 113,771,418	M73T	probably benign	Het
Scn10a	G	T	9: 119,631,544	T1088K	probably damaging	Het
Senp2	T	C	16: 22,011,554		probably null	Het
Setd7	T	C	3: 51,542,730	N92D	probably benign	Het
Sipa1	A	T	19: 5,654,089	L735Q	probably damaging	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,751,388	S296T	probably benign	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Tex15	T	C	8: 33,572,137	S806P	probably damaging	Het
Tgm3	A	T	2: 130,044,589	K577*	probably null	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Xpo6	T	C	7: 126,174,182	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,073,534	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	Het

Other mutations in Lrrc71

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02030:Lrrc71	APN	3	87745224	splice site	probably null
IGL02387:Lrrc71	APN	3	87743071	missense	probably damaging	0.96
IGL02632:Lrrc71	APN	3	87743340	missense	probably damaging	1.00
IGL02701:Lrrc71	APN	3	87741772	missense	probably benign	0.37
R0372:Lrrc71	UTSW	3	87745777	missense	probably benign	0.40
R0505:Lrrc71	UTSW	3	87745699	missense	probably damaging	0.98
R0827:Lrrc71	UTSW	3	87742645	splice site	probably null
R1511:Lrrc71	UTSW	3	87745484	missense	probably benign	0.00
R1541:Lrrc71	UTSW	3	87741841	missense	possibly damaging	0.87
R1987:Lrrc71	UTSW	3	87742643	missense	probably benign	0.25
R2054:Lrrc71	UTSW	3	87742673	missense	probably damaging	1.00
R2143:Lrrc71	UTSW	3	87745521	nonsense	probably null
R2427:Lrrc71	UTSW	3	87746002	missense	probably benign
R3700:Lrrc71	UTSW	3	87745878	splice site	probably null
R4073:Lrrc71	UTSW	3	87745262	missense	probably benign	0.01
R4431:Lrrc71	UTSW	3	87742836	missense	possibly damaging	0.59
R4477:Lrrc71	UTSW	3	87742665	missense	probably damaging	0.99
R4562:Lrrc71	UTSW	3	87745408	unclassified	probably benign
R4563:Lrrc71	UTSW	3	87745408	unclassified	probably benign
R4564:Lrrc71	UTSW	3	87745408	unclassified	probably benign
R4724:Lrrc71	UTSW	3	87739174	missense	probably damaging	0.97
R4826:Lrrc71	UTSW	3	87743308	missense	probably benign	0.33
R5156:Lrrc71	UTSW	3	87745787	missense	probably benign	0.07
R5631:Lrrc71	UTSW	3	87739149	missense	probably benign	0.00
R6182:Lrrc71	UTSW	3	87745794	missense	probably benign	0.41
R6558:Lrrc71	UTSW	3	87742643	missense	probably benign	0.25
R6885:Lrrc71	UTSW	3	87742620	splice site	probably null
R7036:Lrrc71	UTSW	3	87748386	missense	probably benign	0.00
R7199:Lrrc71	UTSW	3	87743077	missense	probably damaging	1.00
R7211:Lrrc71	UTSW	3	87743326	missense	possibly damaging	0.92
R7634:Lrrc71	UTSW	3	87742974	missense	probably damaging	1.00
R7638:Lrrc71	UTSW	3	87741806	missense	probably damaging	1.00
R7695:Lrrc71	UTSW	3	87739462	missense	probably damaging	1.00
R8971:Lrrc71	UTSW	3	87739846	missense	possibly damaging	0.78
R9041:Lrrc71	UTSW	3	87743353	missense	probably damaging	0.97
R9427:Lrrc71	UTSW	3	87743061	missense	probably benign
Z1177:Lrrc71	UTSW	3	87742821	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGAGAGCACAGCCTCAGTTG -3'
(R):5'- GGACGGGAGCTCATTATAGC -3'

Sequencing Primer
(F):5'- TCAGTTGGGCAGCAGGTC -3'
(R):5'- CCCCAAATCTGAGAGTTTGGG -3'

Posted On

2015-06-12