Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02619:Lrrc56'

300802

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc56

Ensembl Gene

ENSMUSG00000038637

Gene Name

leucine rich repeat containing 56

Synonyms

5730427C23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02619

Quality Score

Status

Chromosome

Chromosomal Location

140774070-140789968 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 140787546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026573] [ENSMUST00000047093] [ENSMUST00000070458] [ENSMUST00000084446] [ENSMUST00000170841] [ENSMUST00000209220]

AlphaFold

Q8K375

Predicted Effect

probably benign
Transcript: ENSMUST00000026573

SMART Domains

Protein: ENSMUSP00000026573
Gene: ENSMUSG00000025500

Domain	Start	End	E-Value	Type
coiled coil region	114	170	N/A	INTRINSIC
low complexity region	286	298	N/A	INTRINSIC
Pfam:LTD	375	482	1.3e-13	PFAM
low complexity region	567	578	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000047093

SMART Domains

Protein: ENSMUSP00000048691
Gene: ENSMUSG00000038637

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC
Pfam:LRR_4	138	177	9.1e-8	PFAM
LRRcap	212	230	4.44e-1	SMART
low complexity region	294	310	N/A	INTRINSIC
low complexity region	390	404	N/A	INTRINSIC
low complexity region	449	458	N/A	INTRINSIC
low complexity region	474	496	N/A	INTRINSIC
low complexity region	523	536	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070458

SMART Domains

Protein: ENSMUSP00000063912
Gene: ENSMUSG00000038637

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC
Pfam:LRR_7	116	132	4e-2	PFAM
Pfam:LRR_8	116	171	8.7e-8	PFAM
Pfam:LRR_4	117	158	7.2e-11	PFAM
Pfam:LRR_1	139	159	2.9e-2	PFAM
LRRcap	212	230	4.44e-1	SMART
low complexity region	294	310	N/A	INTRINSIC
low complexity region	390	404	N/A	INTRINSIC
low complexity region	449	458	N/A	INTRINSIC
low complexity region	474	496	N/A	INTRINSIC
low complexity region	523	536	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084446

SMART Domains

Protein: ENSMUSP00000081486
Gene: ENSMUSG00000038637

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC
Pfam:LRR_7	116	132	3.5e-2	PFAM
Pfam:LRR_8	116	171	6.9e-8	PFAM
Pfam:LRR_4	117	158	6.7e-11	PFAM
Pfam:LRR_6	136	160	5.9e-2	PFAM
Pfam:LRR_1	139	159	2.6e-2	PFAM
Pfam:LRR_6	157	182	4.1e-2	PFAM
Pfam:LRR_1	161	199	5.9e-2	PFAM
LRRcap	212	230	4.44e-1	SMART
low complexity region	294	310	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170841

SMART Domains

Protein: ENSMUSP00000130905
Gene: ENSMUSG00000025500

Domain	Start	End	E-Value	Type
coiled coil region	124	180	N/A	INTRINSIC
low complexity region	296	308	N/A	INTRINSIC
SCOP:d1ifra_	385	487	1e-22	SMART
low complexity region	577	588	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209220

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	T	1: 179,620,016 (GRCm39)	G220E	possibly damaging	Het
Arhgef10l	A	G	4: 140,321,504 (GRCm39)	I101T	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Camkk2	A	T	5: 122,902,298 (GRCm39)	C4S	probably damaging	Het
Ccdc174	T	A	6: 91,876,538 (GRCm39)	D458E	possibly damaging	Het
Cercam	A	G	2: 29,770,686 (GRCm39)	N419S	probably benign	Het
Clca3a2	T	C	3: 144,512,083 (GRCm39)	N551S	probably damaging	Het
Cldn18	T	A	9: 99,580,988 (GRCm39)	I87F	probably damaging	Het
Ctso	T	A	3: 81,848,836 (GRCm39)		probably benign	Het
Ddhd2	C	A	8: 26,236,981 (GRCm39)		probably null	Het
Dscaml1	T	A	9: 45,359,094 (GRCm39)	Y118N	probably damaging	Het
Ece1	C	T	4: 137,666,044 (GRCm39)	A296V	probably benign	Het
Fbxo40	T	A	16: 36,790,766 (GRCm39)	I115F	possibly damaging	Het
Fkbp9	T	A	6: 56,827,609 (GRCm39)	N143K	probably damaging	Het
Foxk2	G	T	11: 121,190,402 (GRCm39)		probably benign	Het
Ggnbp1	A	G	17: 27,248,529 (GRCm39)	K33E	probably benign	Het
Hace1	A	T	10: 45,547,530 (GRCm39)		probably benign	Het
Hk3	A	T	13: 55,162,107 (GRCm39)	C133S	probably damaging	Het
Kbtbd3	C	T	9: 4,331,252 (GRCm39)	A542V	probably damaging	Het
Lrch2	A	C	X: 146,263,537 (GRCm39)	V363G	probably damaging	Het
Lrch2	C	T	X: 146,302,131 (GRCm39)	C264Y	probably damaging	Het
Lrtm2	C	T	6: 119,294,199 (GRCm39)	V311M	probably damaging	Het
N4bp1	G	T	8: 87,587,529 (GRCm39)	Q470K	probably benign	Het
Naa15	A	C	3: 51,367,552 (GRCm39)	D575A	probably benign	Het
Ncaph	A	T	2: 126,969,456 (GRCm39)	V69D	probably damaging	Het
Nlrp5	G	A	7: 23,123,489 (GRCm39)		probably null	Het
Nmbr	A	G	10: 14,636,331 (GRCm39)	D100G	probably damaging	Het
Ofcc1	C	T	13: 40,250,553 (GRCm39)	V588M	possibly damaging	Het
Or4b13	G	T	2: 90,082,849 (GRCm39)	T161N	probably damaging	Het
Or5p4	C	A	7: 107,680,949 (GRCm39)		probably benign	Het
Osmr	C	A	15: 6,871,475 (GRCm39)	R314M	probably damaging	Het
Pcdhb16	C	T	18: 37,611,270 (GRCm39)	Q77*	probably null	Het
Pglyrp4	G	A	3: 90,642,955 (GRCm39)		probably null	Het
Ptprh	A	G	7: 4,552,498 (GRCm39)	F922S	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rp1	T	A	1: 4,418,673 (GRCm39)	Q813L	possibly damaging	Het
Sgtb	A	G	13: 104,254,922 (GRCm39)	N64S	probably benign	Het
Slc5a12	T	C	2: 110,471,201 (GRCm39)	V481A	probably benign	Het
Slitrk1	A	G	14: 109,149,349 (GRCm39)	V454A	probably benign	Het
Sntg2	C	A	12: 30,317,025 (GRCm39)		probably null	Het
Synj1	C	T	16: 90,770,933 (GRCm39)	V499I	probably damaging	Het
Tmco1	T	C	1: 167,153,597 (GRCm39)		probably benign	Het
Tmem38b	T	C	4: 53,848,871 (GRCm39)	I92T	probably damaging	Het
Tmem9	T	C	1: 135,955,145 (GRCm39)	V93A	probably benign	Het
Ttn	T	A	2: 76,625,582 (GRCm39)	R15080S	possibly damaging	Het
Ube2e3	T	C	2: 78,749,065 (GRCm39)	I138T	probably damaging	Het
Urgcp	A	G	11: 5,665,752 (GRCm39)	I862T	possibly damaging	Het
Vmn1r68	A	T	7: 10,261,603 (GRCm39)	I165N	probably benign	Het
Washc4	G	A	10: 83,394,717 (GRCm39)	V316I	possibly damaging	Het
Zfp111	A	T	7: 23,899,113 (GRCm39)	L166Q	possibly damaging	Het
Zfyve1	A	T	12: 83,597,718 (GRCm39)		probably benign	Het
Zscan18	A	G	7: 12,508,793 (GRCm39)		probably benign	Het

Other mutations in Lrrc56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02886:Lrrc56	APN	7	140,777,090 (GRCm39)	splice site	probably benign
IGL03290:Lrrc56	APN	7	140,779,685 (GRCm39)	splice site	probably benign
IGL03348:Lrrc56	APN	7	140,787,153 (GRCm39)	missense	probably benign	0.01
R0624:Lrrc56	UTSW	7	140,786,366 (GRCm39)	missense	probably damaging	1.00
R1333:Lrrc56	UTSW	7	140,778,177 (GRCm39)	intron	probably benign
R1385:Lrrc56	UTSW	7	140,785,438 (GRCm39)	missense	probably damaging	1.00
R1857:Lrrc56	UTSW	7	140,787,421 (GRCm39)	missense	probably benign
R1858:Lrrc56	UTSW	7	140,787,421 (GRCm39)	missense	probably benign
R1859:Lrrc56	UTSW	7	140,787,421 (GRCm39)	missense	probably benign
R2234:Lrrc56	UTSW	7	140,778,207 (GRCm39)	missense	probably damaging	1.00
R2324:Lrrc56	UTSW	7	140,785,476 (GRCm39)	splice site	probably benign
R3807:Lrrc56	UTSW	7	140,789,298 (GRCm39)	missense	probably benign
R5347:Lrrc56	UTSW	7	140,789,537 (GRCm39)	missense	probably benign	0.00
R6194:Lrrc56	UTSW	7	140,785,564 (GRCm39)	missense	probably damaging	1.00
R7273:Lrrc56	UTSW	7	140,789,578 (GRCm39)	missense	probably benign
R7500:Lrrc56	UTSW	7	140,789,443 (GRCm39)	missense	probably benign
R7799:Lrrc56	UTSW	7	140,789,515 (GRCm39)	missense	probably damaging	1.00
R8097:Lrrc56	UTSW	7	140,775,819 (GRCm39)	critical splice acceptor site	probably null
R8725:Lrrc56	UTSW	7	140,778,246 (GRCm39)	missense	possibly damaging	0.87
R9803:Lrrc56	UTSW	7	140,787,520 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16