Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02123:Lrrc43'

280731

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc43

Ensembl Gene

ENSMUSG00000063409

Gene Name

leucine rich repeat containing 43

Synonyms

LOC381741

Accession Numbers

Essential gene?

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

Stock #

IGL02123

Quality Score

Status

Chromosome

Chromosomal Location

123627368-123646268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123632342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 162 (I162F)

Ref Sequence

ENSEMBL: ENSMUSP00000113933 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094327] [ENSMUST00000121444] [ENSMUST00000196809] [ENSMUST00000198463]

AlphaFold

Q3V0L5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094327
AA Change: I162F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091885
Gene: ENSMUSG00000063409
AA Change: I162F

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: I162F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113933
Gene: ENSMUSG00000063409
AA Change: I162F

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: I162F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143602
Gene: ENSMUSG00000063409
AA Change: I162F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198463

SMART Domains

Protein: ENSMUSP00000142507
Gene: ENSMUSG00000029437

Domain	Start	End	E-Value	Type
Pfam:IL31	40	179	1.7e-64	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	T	C	7: 28,328,914 (GRCm39)	T31A	probably benign	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Ampd3	T	C	7: 110,401,766 (GRCm39)	V429A	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cldn11	C	T	3: 31,204,336 (GRCm39)	T13M	probably benign	Het
Cngb3	C	A	4: 19,367,801 (GRCm39)	Q237K	probably damaging	Het
Col12a1	A	G	9: 79,569,740 (GRCm39)		probably null	Het
Copa	T	A	1: 171,939,695 (GRCm39)	L621H	probably damaging	Het
Dbn1	T	C	13: 55,624,553 (GRCm39)	D332G	possibly damaging	Het
Drc1	T	C	5: 30,504,448 (GRCm39)	S197P	probably benign	Het
E2f2	A	G	4: 135,900,159 (GRCm39)	N23S	probably benign	Het
Epb41l2	T	A	10: 25,336,742 (GRCm39)	L246H	probably damaging	Het
Fam13b	G	A	18: 34,578,671 (GRCm39)		probably benign	Het
Fam184b	A	G	5: 45,796,493 (GRCm39)	M30T	possibly damaging	Het
Fn3krp	G	A	11: 121,320,270 (GRCm39)	R205H	probably benign	Het
Fndc11	A	G	2: 180,863,443 (GRCm39)	I83V	probably benign	Het
Garin2	T	C	12: 78,780,981 (GRCm39)		probably null	Het
Gm3629	C	T	14: 17,834,541 (GRCm39)	R150H	probably benign	Het
Hs6st1	T	A	1: 36,142,952 (GRCm39)	F296I	possibly damaging	Het
Igsf10	T	A	3: 59,226,081 (GRCm39)	I2531F	probably damaging	Het
Klhl40	T	C	9: 121,608,989 (GRCm39)	F385L	probably benign	Het
Krt87	A	T	15: 101,385,466 (GRCm39)	M302K	possibly damaging	Het
Map3k21	A	G	8: 126,652,849 (GRCm39)	E325G	probably damaging	Het
Mpo	A	T	11: 87,685,621 (GRCm39)	N33I	probably benign	Het
Mpp4	A	G	1: 59,200,625 (GRCm39)		probably null	Het
Muc5b	C	T	7: 141,417,494 (GRCm39)	T3480I	possibly damaging	Het
Myo6	T	C	9: 80,171,554 (GRCm39)		probably benign	Het
Nostrin	C	T	2: 68,986,453 (GRCm39)		probably benign	Het
Nphp1	T	C	2: 127,595,969 (GRCm39)	M498V	probably benign	Het
Nr4a2	A	T	2: 57,001,667 (GRCm39)	L199Q	possibly damaging	Het
Pcdhb6	A	T	18: 37,468,873 (GRCm39)	N598I	probably damaging	Het
Pex19	T	A	1: 171,961,853 (GRCm39)	M207K	probably damaging	Het
Pfkfb4	C	T	9: 108,854,178 (GRCm39)	R351W	probably damaging	Het
Plekha2	T	C	8: 25,532,745 (GRCm39)	K409E	probably damaging	Het
Plxna2	T	C	1: 194,476,691 (GRCm39)	L1169P	probably damaging	Het
Pmpcb	A	G	5: 21,948,373 (GRCm39)		probably benign	Het
Ptrh1	T	C	2: 32,666,826 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,288,265 (GRCm39)	E439G	probably damaging	Het
Ric1	C	T	19: 29,572,200 (GRCm39)	A665V	probably benign	Het
Stx18	T	A	5: 38,285,447 (GRCm39)	V219D	probably damaging	Het
Taf7	A	T	18: 37,775,533 (GRCm39)		probably benign	Het
Tbc1d8	A	G	1: 39,415,988 (GRCm39)	I895T	possibly damaging	Het
Tbc1d8	A	G	1: 39,419,317 (GRCm39)	S766P	probably damaging	Het
Tekt3	C	A	11: 62,974,766 (GRCm39)	H362N	probably benign	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tmem94	T	C	11: 115,678,364 (GRCm39)	S196P	possibly damaging	Het
Vmn2r14	T	C	5: 109,367,933 (GRCm39)	Y353C	probably damaging	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vmn2r90	T	G	17: 17,953,744 (GRCm39)	M636R	probably benign	Het
Vmn2r98	T	A	17: 19,300,941 (GRCm39)	C648S	probably damaging	Het
Zfpm2	G	A	15: 40,965,591 (GRCm39)	C560Y	probably damaging	Het

Other mutations in Lrrc43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0019:Lrrc43	UTSW	5	123,639,378 (GRCm39)	missense	probably damaging	1.00
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

2015-04-16