Mutagenetix > Incidental Mutations

Incidental Mutation 'R1421:Lrrc4b'

159813

Institutional Source

Beutler Lab

Gene Symbol

Lrrc4b

Ensembl Gene

ENSMUSG00000047085

Gene Name

leucine rich repeat containing 4B

Synonyms

Lrig4

MMRRC Submission

039477-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1421 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

44429018-44463351 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44461051 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 116 (I116V)

Ref Sequence

ENSEMBL: ENSMUSP00000123389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035929] [ENSMUST00000058667] [ENSMUST00000127790] [ENSMUST00000135624] [ENSMUST00000146128] [ENSMUST00000152902] [ENSMUST00000156093]

Predicted Effect

probably benign
Transcript: ENSMUST00000035929

SMART Domains

Protein: ENSMUSP00000039202
Gene: ENSMUSG00000038704

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_3	17	128	3.8e-24	PFAM
Pfam:DUF108	174	265	2.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058667
AA Change: I116V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000053123
Gene: ENSMUSG00000047085
AA Change: I116V

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	58	92	5.6e-8	SMART
LRR	91	110	1.62e2	SMART
LRR	111	134	1.16e-1	SMART
LRR_TYP	135	158	8.22e-2	SMART
LRR_TYP	159	182	5.99e-4	SMART
LRR	208	229	1.62e2	SMART
LRR_TYP	230	253	3.63e-3	SMART
LRR	254	277	9.75e0	SMART
LRR_TYP	278	301	5.29e-5	SMART
LRRCT	313	364	1.92e-3	SMART
IGc2	378	445	1.45e-9	SMART
low complexity region	462	482	N/A	INTRINSIC
low complexity region	528	547	N/A	INTRINSIC
transmembrane domain	573	595	N/A	INTRINSIC
low complexity region	596	607	N/A	INTRINSIC
low complexity region	624	644	N/A	INTRINSIC
low complexity region	673	686	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127790
AA Change: I116V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000123389
Gene: ENSMUSG00000047085
AA Change: I116V

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	58	92	5.6e-8	SMART
LRR	91	110	1.62e2	SMART
LRR	111	134	1.16e-1	SMART
LRR_TYP	135	158	8.22e-2	SMART
LRR_TYP	159	182	5.99e-4	SMART
Blast:LRR	183	207	2e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133801

Predicted Effect

probably benign
Transcript: ENSMUST00000135624

Predicted Effect

probably benign
Transcript: ENSMUST00000146128

SMART Domains

Protein: ENSMUSP00000119474
Gene: ENSMUSG00000038704

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_3	5	110	1e-19	PFAM
Pfam:DUF108	153	252	7.5e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152902

Predicted Effect

probably benign
Transcript: ENSMUST00000156093
AA Change: I116V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119374
Gene: ENSMUSG00000047085
AA Change: I116V

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	58	92	5.6e-8	SMART
LRR	91	110	1.62e2	SMART
LRR	111	134	1.16e-1	SMART
LRR_TYP	135	158	8.22e-2	SMART
LRR_TYP	159	182	5.99e-4	SMART
Blast:LRR	183	207	2e-6	BLAST
LRR	208	230	3.65e1	SMART

Meta Mutation Damage Score

0.0951

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	A	G	10: 116,113,438	V61A	probably damaging	Het
A2ml1	T	C	6: 128,543,960	T1344A	probably benign	Het
Abcf1	G	A	17: 35,960,909	A375V	probably damaging	Het
Adam20	T	A	8: 40,796,747	H631Q	possibly damaging	Het
Adcy10	T	C	1: 165,563,947	S1258P	probably damaging	Het
Agtpbp1	A	G	13: 59,495,575	I717T	possibly damaging	Het
Ahnak	T	A	19: 9,015,631	F4760I	possibly damaging	Het
Ano6	A	G	15: 95,913,385	K122R	probably benign	Het
Arhgap5	T	C	12: 52,516,848	C201R	probably damaging	Het
Atg16l1	T	C	1: 87,786,358		probably benign	Het
Cdhr3	A	T	12: 33,060,292	I331K	probably damaging	Het
Coq8a	A	G	1: 180,170,441		probably benign	Het
Crebbp	A	G	16: 4,124,647	V662A	probably damaging	Het
Cspg4	T	A	9: 56,896,626	M1667K	probably benign	Het
Dnah7a	A	G	1: 53,540,873		probably benign	Het
Dnajc6	A	T	4: 101,611,316	Y251F	probably damaging	Het
Dpy19l4	A	T	4: 11,304,011	M133K	probably benign	Het
Emb	T	C	13: 117,272,088	Y322H	probably benign	Het
Fam196a	A	T	7: 134,899,231		probably benign	Het
Gcm1	A	T	9: 78,059,700	H67L	probably damaging	Het
Gls2	A	T	10: 128,201,348	K253*	probably null	Het
Gm28042	T	A	2: 120,036,463	S196T	probably benign	Het
Gm43302	T	C	5: 105,217,349	T598A	probably benign	Het
Gramd1a	T	A	7: 31,142,866	Q90L	probably damaging	Het
Grhl2	A	G	15: 37,309,716	Y352C	probably damaging	Het
Ifi203-ps	T	C	1: 173,797,997		noncoding transcript	Het
Ifitm2	T	C	7: 140,955,059	I121V	probably benign	Het
Kptn	T	G	7: 16,123,024		probably benign	Het
L2hgdh	C	T	12: 69,701,318	D345N	probably benign	Het
Lgals12	T	C	19: 7,606,714	H6R	probably benign	Het
Misp	A	G	10: 79,826,847	D366G	probably damaging	Het
Nav1	T	C	1: 135,585,010	E104G	probably damaging	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Parp1	T	C	1: 180,600,088		probably benign	Het
Pikfyve	G	A	1: 65,271,311	G1919D	probably damaging	Het
Pomt1	A	G	2: 32,236,753		probably benign	Het
Prrc2b	C	T	2: 32,200,978	S454F	possibly damaging	Het
Selenbp1	T	C	3: 94,943,872	S360P	probably benign	Het
Slc6a12	T	A	6: 121,359,126	I352N	probably damaging	Het
Snx9	G	A	17: 5,902,484	G197D	probably benign	Het
Ston1	T	C	17: 88,635,793	V209A	probably benign	Het
Tex36	A	T	7: 133,595,349		probably null	Het
Tnnt3	A	G	7: 142,511,366	E108G	probably damaging	Het
Vmn2r98	T	A	17: 19,065,178	F87I	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wdr64	T	C	1: 175,767,150	I479T	possibly damaging	Het
Xrcc5	A	G	1: 72,310,477	N22D	probably benign	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het
Zfp735	C	A	11: 73,710,697	L156I	probably benign	Het
Zfp820	A	T	17: 21,819,880	Y156N	possibly damaging	Het

Other mutations in Lrrc4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0165:Lrrc4b	UTSW	7	44462315	missense	probably damaging	0.99
R1398:Lrrc4b	UTSW	7	44462452	missense	probably benign	0.44
R1622:Lrrc4b	UTSW	7	44462230	unclassified	probably benign
R1681:Lrrc4b	UTSW	7	44461177	missense	probably damaging	0.99
R1778:Lrrc4b	UTSW	7	44462399	missense	probably benign
R1967:Lrrc4b	UTSW	7	44462230	unclassified	probably benign
R1989:Lrrc4b	UTSW	7	44462230	unclassified	probably benign
R2427:Lrrc4b	UTSW	7	44462552	missense	probably damaging	1.00
R3820:Lrrc4b	UTSW	7	44462558	missense	probably damaging	1.00
R3822:Lrrc4b	UTSW	7	44462558	missense	probably damaging	1.00
R4774:Lrrc4b	UTSW	7	44462372	unclassified	probably null
R5249:Lrrc4b	UTSW	7	44462564	missense	possibly damaging	0.93
R5268:Lrrc4b	UTSW	7	44461363	missense	probably damaging	1.00
R6029:Lrrc4b	UTSW	7	44462330	missense	probably benign	0.00
R6984:Lrrc4b	UTSW	7	44461298	missense	possibly damaging	0.62
R7003:Lrrc4b	UTSW	7	44445156	missense	probably damaging	1.00
R7392:Lrrc4b	UTSW	7	44462015	missense	probably damaging	1.00
R7544:Lrrc4b	UTSW	7	44462551	missense	probably damaging	1.00
R7582:Lrrc4b	UTSW	7	44461810	missense	probably benign	0.00
R7596:Lrrc4b	UTSW	7	44461886	missense	probably damaging	1.00
R7830:Lrrc4b	UTSW	7	44461807	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- AACCCACGTAGTGAGCCTCCTC -3'
(R):5'- CCGCCTCAGATATGTACTCCAGCC -3'

Sequencing Primer
(F):5'- tgggaatgaaggataatggtagag -3'
(R):5'- AGATATGTACTCCAGCCTCTTCAG -3'

Posted On

2014-03-14