Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03258:Lrrc57'

414731

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 #

IGL03258

Quality Score

Status

Chromosome

Chromosomal Location

120434719-120439989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120435703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 239 (A239T)

Ref Sequence

ENSEMBL: ENSMUSP00000099557 (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 damaging
Transcript: ENSMUST00000102496
AA Change: A239T

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

SMART Domains

Protein: ENSMUSP00000099554
Gene: ENSMUSG00000027286
AA Change: A239T

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 damaging
Transcript: ENSMUST00000102497
AA Change: A239T

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

SMART Domains

Protein: ENSMUSP00000099555
Gene: ENSMUSG00000027286
AA Change: A239T

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 damaging
Transcript: ENSMUST00000102498
AA Change: A239T

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

SMART Domains

Protein: ENSMUSP00000099556
Gene: ENSMUSG00000027286
AA Change: A239T

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 damaging
Transcript: ENSMUST00000102499
AA Change: A239T

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

SMART Domains

Protein: ENSMUSP00000099557
Gene: ENSMUSG00000027286
AA Change: A239T

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

noncoding transcript
Transcript: ENSMUST00000141932

Predicted Effect

probably benign
Transcript: ENSMUST00000135465

SMART Domains

Protein: ENSMUSP00000117895
Gene: ENSMUSG00000027286

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

SMART Domains

Protein: ENSMUSP00000121638
Gene: ENSMUSG00000027286

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: 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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,931,210 (GRCm39)		probably benign	Het
Adam1b	A	G	5: 121,639,447 (GRCm39)	S533P	possibly damaging	Het
Akr1c6	G	T	13: 4,486,408 (GRCm39)	G72C	probably damaging	Het
Carf	C	T	1: 60,148,388 (GRCm39)	T28I	possibly damaging	Het
Cog1	G	A	11: 113,545,919 (GRCm39)	W398*	probably null	Het
Dmpk	A	G	7: 18,826,131 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 50,053,960 (GRCm39)	V2534A	probably damaging	Het
Fam78b	A	T	1: 166,906,323 (GRCm39)	T161S	probably damaging	Het
Fgd6	A	T	10: 93,969,215 (GRCm39)	T1161S	probably benign	Het
Gpr158	A	T	2: 21,830,085 (GRCm39)	D710V	probably damaging	Het
H2-Q4	A	G	17: 35,599,095 (GRCm39)	I122V	probably benign	Het
Ifi211	A	T	1: 173,733,098 (GRCm39)	C188S	probably benign	Het
Lamc3	A	C	2: 31,777,695 (GRCm39)	S114R	probably damaging	Het
Mdga1	A	G	17: 30,058,887 (GRCm39)	Y707H	probably damaging	Het
Ms4a6b	T	G	19: 11,499,072 (GRCm39)	L62R	probably damaging	Het
Mtmr4	A	T	11: 87,502,829 (GRCm39)	H961L	possibly damaging	Het
Myrip	A	G	9: 120,270,418 (GRCm39)	N556S	probably benign	Het
Osgep	T	C	14: 51,155,346 (GRCm39)	T71A	possibly damaging	Het
Plin4	T	C	17: 56,411,371 (GRCm39)	T887A	probably benign	Het
Pwwp2a	T	A	11: 43,595,392 (GRCm39)	F186I	probably benign	Het
Serpina1b	G	T	12: 103,696,655 (GRCm39)	S251R	probably benign	Het
Setd7	T	C	3: 51,467,936 (GRCm39)		probably null	Het
Slc24a5	G	T	2: 124,922,625 (GRCm39)		probably null	Het
Slc25a17	A	G	15: 81,213,243 (GRCm39)		probably benign	Het
Slc5a4a	T	C	10: 75,986,386 (GRCm39)	V98A	possibly damaging	Het
Susd1	A	T	4: 59,379,655 (GRCm39)	I324N	possibly damaging	Het
Tcaf3	A	G	6: 42,566,773 (GRCm39)	L772P	probably damaging	Het

Other mutations in Lrrc57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Lrrc57	APN	2	120,436,532 (GRCm39)	missense	possibly damaging	0.77
IGL01347:Lrrc57	APN	2	120,439,286 (GRCm39)	missense	probably benign
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

2016-08-02