Mutagenetix > Incidental Mutations

Incidental Mutation 'R0019:Lrrc43'

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19049

Institutional Source

Beutler Lab

Gene Symbol

Lrrc43

Ensembl Gene

ENSMUSG00000063409

Gene Name

leucine rich repeat containing 43

Synonyms

LOC381741

MMRRC Submission

038314-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0019 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

123489305-123508205 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123501315 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 469 (L469P)

Ref Sequence

ENSEMBL: ENSMUSP00000143602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094327] [ENSMUST00000121444] [ENSMUST00000196809]

Predicted Effect

probably damaging
Transcript: ENSMUST00000094327
AA Change: L469P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409
AA Change: L469P

Domain	Start	End	E-Value	Type
low complexity region	63	80	N/A	INTRINSIC
SCOP:d1a9na_	117	262	3e-16	SMART
low complexity region	389	402	N/A	INTRINSIC
low complexity region	537	565	N/A	INTRINSIC
low complexity region	614	629	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121444
AA Change: L469P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409
AA Change: L469P

Domain	Start	End	E-Value	Type
low complexity region	63	80	N/A	INTRINSIC
SCOP:d1a9na_	117	262	4e-16	SMART
low complexity region	389	402	N/A	INTRINSIC
low complexity region	530	558	N/A	INTRINSIC
low complexity region	607	622	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000196809
AA Change: L469P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409
AA Change: L469P

Domain	Start	End	E-Value	Type
low complexity region	63	80	N/A	INTRINSIC
SCOP:d1a9na_	117	262	2e-16	SMART
low complexity region	389	402	N/A	INTRINSIC
low complexity region	537	565	N/A	INTRINSIC
low complexity region	635	652	N/A	INTRINSIC

Meta Mutation Damage Score

0.2954

Coding Region Coverage

1x: 83.5%
3x: 78.2%
10x: 64.4%
20x: 48.4%

Validation Efficiency

91% (93/102)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13a	T	A	5: 114,786,081		probably benign	Het
Arhgef12	A	T	9: 42,978,233	W1029R	probably damaging	Het
Aunip	T	A	4: 134,523,512	L256*	probably null	Het
Bahcc1	T	A	11: 120,289,771	M2607K	probably damaging	Het
Cacng6	G	T	7: 3,431,868	M152I	possibly damaging	Het
Cep120	A	G	18: 53,709,047		probably benign	Het
D130043K22Rik	T	A	13: 24,880,812	V737D	probably damaging	Het
Dock10	A	G	1: 80,605,925	S187P	probably damaging	Het
Eogt	C	T	6: 97,134,273		probably benign	Het
Fasn	A	T	11: 120,807,998		probably benign	Het
Frem2	C	T	3: 53,523,678	V2745M	probably damaging	Het
Fshb	T	C	2: 107,057,345	S110G	probably benign	Het
Gpi1	A	G	7: 34,220,899	Y144H	probably damaging	Het
Gsap	T	C	5: 21,270,622		probably benign	Het
Helz2	C	A	2: 181,232,759	G1981C	probably damaging	Het
Herc3	T	C	6: 58,885,065		probably benign	Het
Il1r2	C	T	1: 40,125,050	T359M	probably damaging	Het
Il6st	T	C	13: 112,501,148	C563R	possibly damaging	Het
Irs1	T	A	1: 82,287,256	K1080*	probably null	Het
Itpr1	T	C	6: 108,354,626	V182A	probably damaging	Het
Kalrn	C	T	16: 34,198,514		probably benign	Het
Kcnj11	G	A	7: 46,098,939	A320V	probably benign	Het
Lrig1	T	A	6: 94,607,349	R905*	probably null	Het
Med29	A	T	7: 28,391,076		probably benign	Het
Mroh7	T	C	4: 106,721,426	I18M	probably benign	Het
Nalcn	A	C	14: 123,507,489	C376G	probably benign	Het
Ncor2	C	T	5: 125,119,481		probably null	Het
Nek1	T	A	8: 61,089,734	M786K	probably benign	Het
Nrxn2	A	G	19: 6,509,957		probably benign	Het
Nxpe2	T	C	9: 48,319,780	I430V	probably benign	Het
Pcolce2	A	G	9: 95,694,964		probably null	Het
Pdcl	A	T	2: 37,351,920	L273M	probably damaging	Het
Pml	A	T	9: 58,220,493	S610R	probably damaging	Het
Polk	C	A	13: 96,504,616	R144S	probably damaging	Het
Rlf	A	G	4: 121,146,572	V1737A	possibly damaging	Het
Rubcnl	T	A	14: 75,048,263		probably benign	Het
Scn3a	A	T	2: 65,461,701	V1567E	probably damaging	Het
Scyl2	A	G	10: 89,659,321	I296T	probably benign	Het
Slc15a3	A	G	19: 10,856,040	I474V	probably damaging	Het
Sstr1	T	C	12: 58,213,149	L186S	probably damaging	Het
Tmem108	A	T	9: 103,489,340	V484D	possibly damaging	Het
Trim69	A	T	2: 122,174,477		probably null	Het
Trim80	T	G	11: 115,447,942	Y533D	probably damaging	Het
Uhrf1bp1l	A	G	10: 89,775,969	T5A	probably damaging	Het
Unc13b	T	C	4: 43,096,990	I121T	possibly damaging	Het
Usp40	T	C	1: 87,978,411	T701A	probably benign	Het
Xpr1	A	G	1: 155,332,399		probably benign	Het
Ywhab	T	A	2: 164,016,170	I219N	probably damaging	Het
Zfp219	G	T	14: 52,009,028	T169K	probably damaging	Het

Other mutations in Lrrc43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02123:Lrrc43	APN	5	123494279	missense	probably damaging	1.00
IGL02364:Lrrc43	APN	5	123501212	missense	possibly damaging	0.77
PIT4520001:Lrrc43	UTSW	5	123492467	missense	possibly damaging	0.93
R0279:Lrrc43	UTSW	5	123497022	splice site	probably null
R0523:Lrrc43	UTSW	5	123501242	missense	probably damaging	1.00
R1723:Lrrc43	UTSW	5	123492213	unclassified	probably benign
R2104:Lrrc43	UTSW	5	123501114	missense	probably benign	0.00
R2213:Lrrc43	UTSW	5	123503577	missense	possibly damaging	0.94
R2269:Lrrc43	UTSW	5	123503291	missense	probably damaging	1.00
R4591:Lrrc43	UTSW	5	123501164	missense	probably benign	0.00
R4629:Lrrc43	UTSW	5	123499520	missense	probably damaging	1.00
R4727:Lrrc43	UTSW	5	123494303	missense	probably damaging	1.00
R4941:Lrrc43	UTSW	5	123501063	missense	probably benign	0.01
R4960:Lrrc43	UTSW	5	123499612	missense	probably benign	0.19
R5028:Lrrc43	UTSW	5	123508113	missense	probably damaging	1.00
R5387:Lrrc43	UTSW	5	123499671	splice site	probably null
R5653:Lrrc43	UTSW	5	123499580	missense	probably damaging	1.00
R6266:Lrrc43	UTSW	5	123503277	missense	probably damaging	1.00
R6323:Lrrc43	UTSW	5	123503886	missense	probably damaging	1.00
R6703:Lrrc43	UTSW	5	123499469	missense	possibly damaging	0.94
R6869:Lrrc43	UTSW	5	123504276	critical splice donor site	probably null
R6909:Lrrc43	UTSW	5	123500419	missense	probably benign	0.14
R7023:Lrrc43	UTSW	5	123503763	missense	probably damaging	1.00
X0024:Lrrc43	UTSW	5	123501318	missense	probably benign	0.04

Posted On

2013-03-25