Mutagenetix > Incidental Mutation

Incidental Mutation 'R1385:Lrrc56'

163217

Institutional Source

Beutler Lab

Gene Symbol

Lrrc56

Ensembl Gene

ENSMUSG00000038637

Gene Name

leucine rich repeat containing 56

Synonyms

5730427C23Rik

MMRRC Submission

039447-MU

Accession Numbers

Essential gene?

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

Stock #

R1385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140774070-140789968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140785438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 130 (D130G)

Ref Sequence

ENSEMBL: ENSMUSP00000081486 (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 damaging
Transcript: ENSMUST00000047093
AA Change: D130G

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

SMART Domains

Protein: ENSMUSP00000048691
Gene: ENSMUSG00000038637
AA Change: D130G

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 damaging
Transcript: ENSMUST00000070458
AA Change: D130G

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

SMART Domains

Protein: ENSMUSP00000063912
Gene: ENSMUSG00000038637
AA Change: D130G

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 damaging
Transcript: ENSMUST00000084446
AA Change: D130G

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

SMART Domains

Protein: ENSMUSP00000081486
Gene: ENSMUSG00000038637
AA Change: D130G

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

noncoding transcript
Transcript: ENSMUST00000144199

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

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh7a1	A	G	18: 56,675,357 (GRCm39)	S269P	probably damaging	Het
Arf3	A	G	15: 98,640,494 (GRCm39)	V43A	probably damaging	Het
Arhgap1	C	A	2: 91,501,176 (GRCm39)	N457K	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Bltp3b	A	G	10: 89,626,503 (GRCm39)	N399S	possibly damaging	Het
Ccdc39	C	T	3: 33,875,561 (GRCm39)	E544K	probably damaging	Het
Cfap44	A	G	16: 44,291,138 (GRCm39)	E1546G	probably damaging	Het
Cntn6	A	G	6: 104,838,861 (GRCm39)	I900V	probably benign	Het
Edem1	A	G	6: 108,823,645 (GRCm39)	N347S	probably damaging	Het
Erich6	A	G	3: 58,544,251 (GRCm39)	I112T	probably benign	Het
Gemin2	A	G	12: 59,064,932 (GRCm39)		probably null	Het
Hunk	T	A	16: 90,269,374 (GRCm39)	V306E	possibly damaging	Het
Hydin	A	G	8: 111,249,836 (GRCm39)	I2260V	probably benign	Het
Insyn1	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,406,715 (GRCm39)		probably benign	Het
Itgbl1	A	G	14: 123,898,923 (GRCm39)		probably null	Het
Iws1	T	A	18: 32,223,483 (GRCm39)	N630K	probably benign	Het
Lama2	C	A	10: 27,100,039 (GRCm39)	R822L	probably benign	Het
Mageb11	T	A	X: 89,935,874 (GRCm39)	C43S	probably benign	Het
Malrd1	A	T	2: 16,047,039 (GRCm39)	I1722F	unknown	Het
Mark4	G	T	7: 19,159,952 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,874 (GRCm39)	V2940A	probably benign	Het
Mxd1	T	A	6: 86,628,549 (GRCm39)	Q62L	probably damaging	Het
Ncapd2	A	T	6: 125,150,078 (GRCm39)	S917T	probably benign	Het
Nr2c2	T	G	6: 92,131,451 (GRCm39)	F171C	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nynrin	A	T	14: 56,102,356 (GRCm39)	Q675L	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Ocstamp	T	C	2: 165,237,959 (GRCm39)	D435G	probably benign	Het
Pdzd2	T	C	15: 12,411,108 (GRCm39)	T553A	probably benign	Het
Pllp	A	G	8: 95,405,996 (GRCm39)	Y96H	probably benign	Het
Polg2	A	G	11: 106,659,149 (GRCm39)	S455P	probably damaging	Het
Ppp1r9b	A	G	11: 94,883,037 (GRCm39)	T222A	probably benign	Het
Prkcd	G	A	14: 30,329,362 (GRCm39)	T26I	probably damaging	Het
Prkcq	A	G	2: 11,261,097 (GRCm39)	H383R	probably damaging	Het
Prune2	A	G	19: 17,102,312 (GRCm39)	I2490M	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Scn9a	G	A	2: 66,393,886 (GRCm39)	P229L	probably damaging	Het
Serpinb5	A	G	1: 106,803,853 (GRCm39)	T180A	probably damaging	Het
Slc5a2	G	C	7: 127,869,803 (GRCm39)	R412P	probably damaging	Het
Sphk2	A	G	7: 45,361,715 (GRCm39)	I82T	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Treml1	T	G	17: 48,667,226 (GRCm39)	V37G	probably damaging	Het
Trim33	A	G	3: 103,218,266 (GRCm39)	K272E	possibly damaging	Het
Trpv6	T	C	6: 41,598,063 (GRCm39)	D748G	probably benign	Het
Ubr4	A	G	4: 139,129,923 (GRCm39)	H681R	probably benign	Het
Vmn2r82	A	T	10: 79,232,325 (GRCm39)	R775*	probably null	Het
Xpo1	T	C	11: 23,211,863 (GRCm39)	L8S	probably damaging	Het
Zfand4	G	A	6: 116,250,599 (GRCm39)	G10R	probably damaging	Het
Zfp119a	T	A	17: 56,172,826 (GRCm39)	H339L	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het

Other mutations in Lrrc56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02619:Lrrc56	APN	7	140,787,546 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CCCATGACAGCACTGGATCACTTAC -3'
(R):5'- GCTTCAGGCACACCAGATTCCC -3'

Sequencing Primer
(F):5'- tttctcctttccctcatcttattttc -3'
(R):5'- AGATTCCCCTCCAGTGTGAG -3'

Posted On

2014-03-17