Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00924:Lrrc57'

26887

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc57

Ensembl Gene

ENSMUSG00000027286

Gene Name

leucine rich repeat containing 57

Synonyms

2810002D13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

IGL00924

Quality Score

Status

Chromosome

Chromosomal Location

120434719-120439989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120436532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 86 (M86K)

Ref Sequence

ENSEMBL: ENSMUSP00000117895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028741] [ENSMUST00000028743] [ENSMUST00000102496] [ENSMUST00000102497] [ENSMUST00000102498] [ENSMUST00000102499] [ENSMUST00000110706] [ENSMUST00000135465] [ENSMUST00000133612] [ENSMUST00000124187] [ENSMUST00000110711] [ENSMUST00000116437]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028741

SMART Domains

Protein: ENSMUSP00000028741
Gene: ENSMUSG00000027285

Domain	Start	End	E-Value	Type
Pfam:HAUS2	4	67	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028743

SMART Domains

Protein: ENSMUSP00000028743
Gene: ENSMUSG00000027287

Domain	Start	End	E-Value	Type
t_SNARE	9	76	3.44e-9	SMART
t_SNARE	140	207	1.89e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102496
AA Change: M192K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099554
Gene: ENSMUSG00000027286
AA Change: M192K

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102497
AA Change: M192K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099555
Gene: ENSMUSG00000027286
AA Change: M192K

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102498
AA Change: M192K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099556
Gene: ENSMUSG00000027286
AA Change: M192K

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102499
AA Change: M192K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099557
Gene: ENSMUSG00000027286
AA Change: M192K

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110706

SMART Domains

Protein: ENSMUSP00000106334
Gene: ENSMUSG00000027285

Domain	Start	End	E-Value	Type
Pfam:HAUS2	1	199	2.4e-81	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135465
AA Change: M86K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117895
Gene: ENSMUSG00000027286
AA Change: M86K

Domain	Start	End	E-Value	Type
LRR	1	23	9.96e-1	SMART
LRR_TYP	24	47	9.44e-2	SMART
LRR	69	94	3.27e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133612
AA Change: M192K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121638
Gene: ENSMUSG00000027286
AA Change: M192K

Domain	Start	End	E-Value	Type
LRR	37	60	9.48e0	SMART
LRR	61	83	6.77e0	SMART
LRR_TYP	84	106	9.58e-3	SMART
LRR	107	129	9.96e-1	SMART
LRR_TYP	130	153	9.44e-2	SMART
LRR	175	200	3.27e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141932

Predicted Effect

probably benign
Transcript: ENSMUST00000124187

SMART Domains

Protein: ENSMUSP00000117299
Gene: ENSMUSG00000027285

Domain	Start	End	E-Value	Type
Pfam:HAUS2	5	215	1.2e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110711

SMART Domains

Protein: ENSMUSP00000106339
Gene: ENSMUSG00000027287

Domain	Start	End	E-Value	Type
t_SNARE	9	76	3.44e-9	SMART
t_SNARE	140	207	1.89e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116437

SMART Domains

Protein: ENSMUSP00000112138
Gene: ENSMUSG00000027287

Domain	Start	End	E-Value	Type
t_SNARE	9	76	3.44e-9	SMART
t_SNARE	151	218	1.89e-15	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,255,021 (GRCm39)	V112A	probably benign	Het
Atp1a4	T	A	1: 172,074,339 (GRCm39)	I305F	probably damaging	Het
AW209491	A	G	13: 14,811,660 (GRCm39)	N171S	probably damaging	Het
Bank1	G	T	3: 135,953,395 (GRCm39)	A120E	probably damaging	Het
Bdp1	T	A	13: 100,234,087 (GRCm39)	E206D	possibly damaging	Het
Brd1	T	C	15: 88,613,612 (GRCm39)	K428E	possibly damaging	Het
Ccdc42	A	G	11: 68,485,447 (GRCm39)	I191V	probably benign	Het
Coa7	G	T	4: 108,195,505 (GRCm39)	G145C	possibly damaging	Het
Cpm	T	G	10: 117,511,971 (GRCm39)	I305S	probably damaging	Het
Cracd	A	G	5: 77,006,833 (GRCm39)	T1065A	unknown	Het
Dlc1	A	T	8: 37,405,368 (GRCm39)	S140R	probably benign	Het
Dnajc14	A	G	10: 128,653,188 (GRCm39)	T674A	probably benign	Het
Dnajc7	A	G	11: 100,475,111 (GRCm39)	I437T	possibly damaging	Het
Entpd5	A	T	12: 84,433,828 (GRCm39)	V147E	probably damaging	Het
Gpr139	A	G	7: 118,783,510 (GRCm39)	C30R	probably benign	Het
Habp4	A	G	13: 64,321,885 (GRCm39)	D174G	probably damaging	Het
Has3	T	C	8: 107,605,231 (GRCm39)	F479S	probably benign	Het
Helb	T	A	10: 119,946,889 (GRCm39)	K141N	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kdm1b	G	A	13: 47,221,956 (GRCm39)	R465H	probably benign	Het
Map7d1	A	G	4: 126,132,398 (GRCm39)	V258A	probably damaging	Het
Mtcl2	T	G	2: 156,882,625 (GRCm39)	M476L	probably damaging	Het
Mybbp1a	T	A	11: 72,334,393 (GRCm39)	F216Y	probably damaging	Het
Ncan	T	A	8: 70,561,039 (GRCm39)	M643L	possibly damaging	Het
Ngdn	T	C	14: 55,260,626 (GRCm39)	I278T	probably damaging	Het
Or4c104	T	C	2: 88,586,500 (GRCm39)	D173G	possibly damaging	Het
Or9a4	C	T	6: 40,548,388 (GRCm39)	R23C	probably benign	Het
P4hb	G	T	11: 120,454,644 (GRCm39)	Q245K	probably benign	Het
Pcx	G	A	19: 4,670,965 (GRCm39)	V1089I	probably benign	Het
Phc3	A	T	3: 30,990,624 (GRCm39)	M498K	probably damaging	Het
Pkd1	T	A	17: 24,790,601 (GRCm39)	L1025*	probably null	Het
Sdhaf2	G	A	19: 10,494,380 (GRCm39)	P110S	probably damaging	Het
Slc22a20	T	C	19: 6,020,544 (GRCm39)	K538E	probably benign	Het
Spag11b	T	A	8: 19,192,656 (GRCm39)	V78D	probably damaging	Het
Tgm3	T	C	2: 129,880,294 (GRCm39)	C367R	probably damaging	Het
Unc5a	G	A	13: 55,152,327 (GRCm39)	E741K	probably damaging	Het
Vmn2r58	A	T	7: 41,486,891 (GRCm39)	L668H	probably damaging	Het
Wdr62	G	A	7: 29,964,643 (GRCm39)	T367I	probably damaging	Het
Wdr62	G	A	7: 29,942,231 (GRCm39)	P603S	probably damaging	Het
Xab2	G	A	8: 3,661,723 (GRCm39)	R577W	probably damaging	Het

Other mutations in Lrrc57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01347:Lrrc57	APN	2	120,439,286 (GRCm39)	missense	probably benign
IGL03258:Lrrc57	APN	2	120,435,703 (GRCm39)	missense	probably damaging	1.00
R3435:Lrrc57	UTSW	2	120,439,862 (GRCm39)	unclassified	probably benign
R7413:Lrrc57	UTSW	2	120,436,577 (GRCm39)	missense	probably damaging	1.00
R7896:Lrrc57	UTSW	2	120,438,372 (GRCm39)	missense	probably damaging	1.00
R9070:Lrrc57	UTSW	2	120,436,565 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17