Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02701:Lrrc71'

304115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc71

Ensembl Gene

ENSMUSG00000023084

Gene Name

leucine rich repeat containing 71

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02701

Quality Score

Status

Chromosome

Chromosomal Location

87736923-87748625 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87741772 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 363 (E363G)

Ref Sequence

ENSEMBL: ENSMUSP00000023846 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023846
AA Change: E363G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084
AA Change: E363G

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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	G	5: 5,466,623		probably null	Het
4833423E24Rik	A	G	2: 85,484,169	L480P	probably damaging	Het
Arhgap21	A	G	2: 20,892,091	C125R	probably damaging	Het
Blmh	A	G	11: 76,971,910	D383G	probably benign	Het
Brca1	T	C	11: 101,525,235	E691G	probably damaging	Het
Chrm3	G	A	13: 9,878,464	R179*	probably null	Het
Cnrip1	A	G	11: 17,078,415	T116A	probably benign	Het
Csmd2	T	C	4: 128,496,141	V2223A	probably benign	Het
Dalrd3	T	A	9: 108,572,284	V143D	possibly damaging	Het
Ddx60	A	T	8: 61,979,341	I886L	probably damaging	Het
Dennd4a	T	C	9: 64,897,353	F1325L	possibly damaging	Het
Dnmt3l	A	T	10: 78,055,022	T253S	probably benign	Het
Gde1	T	A	7: 118,698,637	T9S	probably damaging	Het
Ggcx	T	A	6: 72,418,472		probably benign	Het
Gm813	G	A	16: 58,615,807	S51L	probably benign	Het
Hspg2	C	T	4: 137,557,174	A3481V	probably damaging	Het
Igf1r	T	C	7: 68,201,249	Y931H	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,801	S25A	probably damaging	Het
Itga5	A	C	15: 103,347,766	C920G	probably damaging	Het
Kmt5b	A	G	19: 3,796,681	D118G	probably benign	Het
Lrp1b	T	G	2: 41,246,017	N1647T	possibly damaging	Het
Mapk1	A	G	16: 17,015,906	Y41C	probably benign	Het
Mib1	T	C	18: 10,747,357	V178A	probably damaging	Het
Olfr1022	A	G	2: 85,869,458	I289V	probably benign	Het
Olfr159	A	G	4: 43,770,366	I215T	probably benign	Het
Olfr472	A	T	7: 107,903,442	T242S	probably benign	Het
Plb1	T	C	5: 32,364,197	V1464A	unknown	Het
Plekhg5	T	C	4: 152,103,022	S82P	probably damaging	Het
Plxna4	T	C	6: 32,517,559	T41A	probably benign	Het
Ppip5k1	A	C	2: 121,316,649		probably null	Het
Rpl14	T	C	9: 120,573,573		probably benign	Het
Slc44a2	T	C	9: 21,347,951	F554L	probably benign	Het
Slco1b2	T	A	6: 141,685,545	V635E	probably benign	Het
Sv2a	T	A	3: 96,187,131	C261S	probably damaging	Het
Thbs2	T	C	17: 14,683,361	I353V	probably benign	Het
Tspan4	G	A	7: 141,492,028	V205M	probably damaging	Het
Vezf1	A	T	11: 88,076,221	R93*	probably null	Het
Wwox	T	A	8: 114,706,368	V258D	probably damaging	Het
Zmynd12	G	T	4: 119,444,755		probably benign	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
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
R4231:Lrrc71	UTSW	3	87740991	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
Z1177:Lrrc71	UTSW	3	87742821	missense	probably benign	0.01

Posted On

2015-04-16