Mutagenetix > Incidental Mutation

Incidental Mutation 'R0019:Lrrc43'

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

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R0019 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

123627368-123646268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123639378 bp (GRCm39)

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]

AlphaFold

Q3V0L5

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: 114,924,142 (GRCm39)		probably benign	Het
Arhgef12	A	T	9: 42,889,529 (GRCm39)	W1029R	probably damaging	Het
Aunip	T	A	4: 134,250,823 (GRCm39)	L256*	probably null	Het
Bahcc1	T	A	11: 120,180,597 (GRCm39)	M2607K	probably damaging	Het
Bltp3b	A	G	10: 89,611,831 (GRCm39)	T5A	probably damaging	Het
Cacng6	G	T	7: 3,480,384 (GRCm39)	M152I	possibly damaging	Het
Cep120	A	G	18: 53,842,119 (GRCm39)		probably benign	Het
D130043K22Rik	T	A	13: 25,064,795 (GRCm39)	V737D	probably damaging	Het
Dock10	A	G	1: 80,583,642 (GRCm39)	S187P	probably damaging	Het
Eogt	C	T	6: 97,111,234 (GRCm39)		probably benign	Het
Fasn	A	T	11: 120,698,824 (GRCm39)		probably benign	Het
Frem2	C	T	3: 53,431,099 (GRCm39)	V2745M	probably damaging	Het
Fshb	T	C	2: 106,887,690 (GRCm39)	S110G	probably benign	Het
Gpi1	A	G	7: 33,920,324 (GRCm39)	Y144H	probably damaging	Het
Gsap	T	C	5: 21,475,620 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Herc3	T	C	6: 58,862,050 (GRCm39)		probably benign	Het
Il1r2	C	T	1: 40,164,210 (GRCm39)	T359M	probably damaging	Het
Il6st	T	C	13: 112,637,682 (GRCm39)	C563R	possibly damaging	Het
Irs1	T	A	1: 82,264,977 (GRCm39)	K1080*	probably null	Het
Itpr1	T	C	6: 108,331,587 (GRCm39)	V182A	probably damaging	Het
Kalrn	C	T	16: 34,018,884 (GRCm39)		probably benign	Het
Kcnj11	G	A	7: 45,748,363 (GRCm39)	A320V	probably benign	Het
Lrig1	T	A	6: 94,584,330 (GRCm39)	R905*	probably null	Het
Med29	A	T	7: 28,090,501 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,578,623 (GRCm39)	I18M	probably benign	Het
Nalcn	A	C	14: 123,744,901 (GRCm39)	C376G	probably benign	Het
Ncor2	C	T	5: 125,196,545 (GRCm39)		probably null	Het
Nek1	T	A	8: 61,542,768 (GRCm39)	M786K	probably benign	Het
Nrxn2	A	G	19: 6,559,987 (GRCm39)		probably benign	Het
Nxpe2	T	C	9: 48,231,080 (GRCm39)	I430V	probably benign	Het
Pcolce2	A	G	9: 95,577,017 (GRCm39)		probably null	Het
Pdcl	A	T	2: 37,241,932 (GRCm39)	L273M	probably damaging	Het
Pml	A	T	9: 58,127,776 (GRCm39)	S610R	probably damaging	Het
Polk	C	A	13: 96,641,124 (GRCm39)	R144S	probably damaging	Het
Rlf	A	G	4: 121,003,769 (GRCm39)	V1737A	possibly damaging	Het
Rubcnl	T	A	14: 75,285,703 (GRCm39)		probably benign	Het
Scn3a	A	T	2: 65,292,045 (GRCm39)	V1567E	probably damaging	Het
Scyl2	A	G	10: 89,495,183 (GRCm39)	I296T	probably benign	Het
Slc15a3	A	G	19: 10,833,404 (GRCm39)	I474V	probably damaging	Het
Sstr1	T	C	12: 58,259,935 (GRCm39)	L186S	probably damaging	Het
Tmem108	A	T	9: 103,366,539 (GRCm39)	V484D	possibly damaging	Het
Trim69	A	T	2: 122,004,958 (GRCm39)		probably null	Het
Trim80	T	G	11: 115,338,768 (GRCm39)	Y533D	probably damaging	Het
Unc13b	T	C	4: 43,096,990 (GRCm39)	I121T	possibly damaging	Het
Usp40	T	C	1: 87,906,133 (GRCm39)	T701A	probably benign	Het
Xpr1	A	G	1: 155,208,145 (GRCm39)		probably benign	Het
Ywhab	T	A	2: 163,858,090 (GRCm39)	I219N	probably damaging	Het
Zfp219	G	T	14: 52,246,485 (GRCm39)	T169K	probably damaging	Het

Other mutations in Lrrc43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02123:Lrrc43	APN	5	123,632,342 (GRCm39)	missense	probably damaging	1.00
IGL02364:Lrrc43	APN	5	123,639,275 (GRCm39)	missense	possibly damaging	0.77
PIT4520001:Lrrc43	UTSW	5	123,630,530 (GRCm39)	missense	possibly damaging	0.93
R0279:Lrrc43	UTSW	5	123,635,085 (GRCm39)	splice site	probably null
R0523:Lrrc43	UTSW	5	123,639,305 (GRCm39)	missense	probably damaging	1.00
R1723:Lrrc43	UTSW	5	123,630,276 (GRCm39)	unclassified	probably benign
R2104:Lrrc43	UTSW	5	123,639,177 (GRCm39)	missense	probably benign	0.00
R2213:Lrrc43	UTSW	5	123,641,640 (GRCm39)	missense	possibly damaging	0.94
R2269:Lrrc43	UTSW	5	123,641,354 (GRCm39)	missense	probably damaging	1.00
R4591:Lrrc43	UTSW	5	123,639,227 (GRCm39)	missense	probably benign	0.00
R4629:Lrrc43	UTSW	5	123,637,583 (GRCm39)	missense	probably damaging	1.00
R4727:Lrrc43	UTSW	5	123,632,366 (GRCm39)	missense	probably damaging	1.00
R4941:Lrrc43	UTSW	5	123,639,126 (GRCm39)	missense	probably benign	0.01
R4960:Lrrc43	UTSW	5	123,637,675 (GRCm39)	missense	probably benign	0.19
R5028:Lrrc43	UTSW	5	123,646,176 (GRCm39)	missense	probably damaging	1.00
R5387:Lrrc43	UTSW	5	123,637,734 (GRCm39)	splice site	probably null
R5653:Lrrc43	UTSW	5	123,637,643 (GRCm39)	missense	probably damaging	1.00
R6266:Lrrc43	UTSW	5	123,641,340 (GRCm39)	missense	probably damaging	1.00
R6323:Lrrc43	UTSW	5	123,641,949 (GRCm39)	missense	probably damaging	1.00
R6703:Lrrc43	UTSW	5	123,637,532 (GRCm39)	missense	possibly damaging	0.94
R6869:Lrrc43	UTSW	5	123,642,339 (GRCm39)	critical splice donor site	probably null
R6909:Lrrc43	UTSW	5	123,638,482 (GRCm39)	missense	probably benign	0.14
R7023:Lrrc43	UTSW	5	123,641,826 (GRCm39)	missense	probably damaging	1.00
R7910:Lrrc43	UTSW	5	123,639,084 (GRCm39)	missense	probably benign	0.27
R7910:Lrrc43	UTSW	5	123,630,470 (GRCm39)	missense	probably damaging	1.00
R8093:Lrrc43	UTSW	5	123,639,192 (GRCm39)	missense	probably benign	0.41
R8127:Lrrc43	UTSW	5	123,630,334 (GRCm39)	missense	probably damaging	1.00
R8351:Lrrc43	UTSW	5	123,632,328 (GRCm39)	missense	probably damaging	1.00
R8722:Lrrc43	UTSW	5	123,646,142 (GRCm39)	missense	possibly damaging	0.73
R8920:Lrrc43	UTSW	5	123,639,194 (GRCm39)	missense	probably benign	0.00
R9189:Lrrc43	UTSW	5	123,646,109 (GRCm39)	missense	probably benign	0.00
R9305:Lrrc43	UTSW	5	123,646,219 (GRCm39)	missense	unknown
R9544:Lrrc43	UTSW	5	123,641,307 (GRCm39)	missense	probably damaging	1.00
R9588:Lrrc43	UTSW	5	123,641,307 (GRCm39)	missense	probably damaging	1.00
X0024:Lrrc43	UTSW	5	123,639,381 (GRCm39)	missense	probably benign	0.04

Posted On

2013-03-25