Mutagenetix > Incidental Mutation

Incidental Mutation 'R3807:Lrrc56'

473940

Institutional Source

Beutler Lab

Gene Symbol

Lrrc56

Ensembl Gene

ENSMUSG00000038637

Gene Name

leucine rich repeat containing 56

Synonyms

5730427C23Rik

MMRRC Submission

040764-MU

Accession Numbers

Essential gene?

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

Stock #

R3807 (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 140789298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 393 (T393A)

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

silent
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

silent
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
AA Change: T393A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081486
Gene: ENSMUSG00000038637
AA Change: T393A

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

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	T	8: 112,717,002 (GRCm39)	W2R	probably damaging	Het
Arhgap42	A	G	9: 9,008,034 (GRCm39)	I563T	probably damaging	Het
Armcx1	T	C	X: 133,622,014 (GRCm39)	V372A	probably damaging	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Bpifb1	C	A	2: 154,055,922 (GRCm39)	N329K	probably benign	Het
Ccdc113	A	T	8: 96,269,281 (GRCm39)	N193I	probably damaging	Het
Cebpz	A	T	17: 79,242,847 (GRCm39)	L269Q	probably damaging	Het
Cttn	C	T	7: 143,999,588 (GRCm39)	V290M	probably damaging	Het
Ctu1	T	C	7: 43,326,097 (GRCm39)	L252P	probably damaging	Het
Dmbt1	T	A	7: 130,713,819 (GRCm39)	M1455K	possibly damaging	Het
Eme1	A	G	11: 94,541,418 (GRCm39)	W135R	probably damaging	Het
Entpd7	T	G	19: 43,713,979 (GRCm39)		probably null	Het
Eri2	A	T	7: 119,385,231 (GRCm39)	C423*	probably null	Het
Erich1	T	C	8: 14,083,695 (GRCm39)	N125S	probably benign	Het
Fam149a	T	A	8: 45,834,647 (GRCm39)	T51S	possibly damaging	Het
Fer1l4	C	T	2: 155,887,603 (GRCm39)	G531D	probably damaging	Het
Frem2	A	T	3: 53,560,870 (GRCm39)	D1212E	probably benign	Het
Garin3	G	A	11: 46,295,780 (GRCm39)	A51T	possibly damaging	Het
Get4	G	T	5: 139,238,286 (GRCm39)	V23F	probably damaging	Het
Gm11595	C	T	11: 99,663,380 (GRCm39)	R100H	unknown	Het
Gria1	T	C	11: 57,201,504 (GRCm39)	W712R	probably damaging	Het
Herc2	A	G	7: 55,857,557 (GRCm39)	N4047D	probably damaging	Het
Hoxc9	A	G	15: 102,890,116 (GRCm39)	Y11C	possibly damaging	Het
Lama2	GCCC	GCC	10: 27,066,661 (GRCm39)		probably null	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Med14	T	C	X: 12,553,416 (GRCm39)	Y463C	probably damaging	Het
Nalcn	T	A	14: 123,515,599 (GRCm39)	D1734V	probably damaging	Het
Nfe2l3	A	T	6: 51,434,357 (GRCm39)	R306*	probably null	Het
Nolc1	CAG	CAGAAG	19: 46,069,798 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,069,810 (GRCm39)		probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Npr1	A	T	3: 90,366,033 (GRCm39)	V586E	probably damaging	Het
Or2d2b	A	G	7: 106,705,670 (GRCm39)	S133P	probably benign	Het
Or5h24	A	C	16: 58,919,206 (GRCm39)	*50G	probably null	Het
Pcdhb4	T	C	18: 37,442,367 (GRCm39)	F559S	probably damaging	Het
Psmd12	T	G	11: 107,386,591 (GRCm39)	D387E	probably benign	Het
Psme4	T	A	11: 30,806,027 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rgs11	A	T	17: 26,422,474 (GRCm39)	I69F	probably damaging	Het
Ryr1	C	T	7: 28,719,577 (GRCm39)	A4277T	probably damaging	Het
Setbp1	C	T	18: 78,826,537 (GRCm39)	V1359I	probably benign	Het
Sis	A	T	3: 72,832,929 (GRCm39)	V956E	probably benign	Het
Slc35f3	T	A	8: 127,115,978 (GRCm39)	W302R	probably damaging	Het
Syt16	A	G	12: 74,276,172 (GRCm39)	E212G	possibly damaging	Het
Tdp2	C	A	13: 25,015,776 (GRCm39)	S21*	probably null	Het
Tfrc	A	T	16: 32,435,644 (GRCm39)	N173I	possibly damaging	Het
Tmem132b	A	T	5: 125,864,644 (GRCm39)	I917F	probably damaging	Het
Vbp1	T	C	X: 74,566,948 (GRCm39)	V122A	probably damaging	Het
Vmn1r225	G	A	17: 20,723,114 (GRCm39)	W185*	probably null	Het
Vmn1r70	A	G	7: 10,367,715 (GRCm39)	T68A	probably benign	Het
Zfp518a	A	G	19: 40,903,241 (GRCm39)	K1057E	possibly damaging	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
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
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

Posted On

2017-04-14