Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01607:Ly6a'

92294

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ly6a

Ensembl Gene

ENSMUSG00000075602

Gene Name

lymphocyte antigen 6 family member A

Synonyms

Ly-6A.2, TAP, Ly-6E.1, Ly-6A/E, Sca1, Sca-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL01607

Quality Score

Status

Chromosome

Chromosomal Location

74866726-74869880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74867262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 85 (M85K)

Ref Sequence

ENSEMBL: ENSMUSP00000140638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023248] [ENSMUST00000186526] [ENSMUST00000187171] [ENSMUST00000187994] [ENSMUST00000189068] [ENSMUST00000190188]

AlphaFold

P05533

Predicted Effect

probably benign
Transcript: ENSMUST00000023248
AA Change: M85K

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

SMART Domains

Protein: ENSMUSP00000023248
Gene: ENSMUSG00000075602
AA Change: M85K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	3.59e-39	SMART
low complexity region	121	134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186526
AA Change: M85K

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

SMART Domains

Protein: ENSMUSP00000140998
Gene: ENSMUSG00000075602
AA Change: M85K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	3.59e-39	SMART
low complexity region	121	134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187171
AA Change: M85K

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

SMART Domains

Protein: ENSMUSP00000140099
Gene: ENSMUSG00000075602
AA Change: M85K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	3.59e-39	SMART
low complexity region	121	134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187994
AA Change: M85K

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

SMART Domains

Protein: ENSMUSP00000140287
Gene: ENSMUSG00000075602
AA Change: M85K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	3.59e-39	SMART
low complexity region	121	134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189068
AA Change: M85K

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

SMART Domains

Protein: ENSMUSP00000140638
Gene: ENSMUSG00000075602
AA Change: M85K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	3.59e-39	SMART
low complexity region	121	134	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190188

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Nullizygous mice show strain-dependent prenatal lethality, altered proliferative response by T lymphocytes, hematopoietic stem cell and progenitor defects, and age-related osteoporosis. Heterozygotes for a knock-in allele develop a myeloproliferative disorder and skin pathology at high penetrance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,243,823 (GRCm39)	K556E	possibly damaging	Het
Adgre4	A	C	17: 56,101,748 (GRCm39)		probably benign	Het
Ajap1	C	T	4: 153,516,736 (GRCm39)	G202S	probably damaging	Het
Catsperb	G	T	12: 101,446,985 (GRCm39)		probably benign	Het
Ccdc178	T	A	18: 22,200,778 (GRCm39)	D393V	probably benign	Het
Cfap74	A	G	4: 155,503,443 (GRCm39)	T95A	possibly damaging	Het
Dis3l2	A	G	1: 86,673,209 (GRCm39)	T67A	probably benign	Het
Dnaja3	T	C	16: 4,511,259 (GRCm39)	F205L	probably damaging	Het
Dsc1	C	T	18: 20,222,720 (GRCm39)	C584Y	probably damaging	Het
Duox2	C	A	2: 122,122,800 (GRCm39)	V545L	probably benign	Het
Etaa1	A	G	11: 17,903,637 (GRCm39)	L53P	probably benign	Het
Gm14184	C	T	11: 99,590,490 (GRCm39)	C4Y	unknown	Het
Inpp4b	C	T	8: 82,737,292 (GRCm39)	A563V	probably benign	Het
Kcnc3	A	G	7: 44,240,728 (GRCm39)	D140G	probably damaging	Het
Map4k2	C	T	19: 6,395,623 (GRCm39)		probably null	Het
Mttp	T	C	3: 137,810,459 (GRCm39)	Y652C	probably damaging	Het
Neu1	A	T	17: 35,153,692 (GRCm39)	N372I	probably benign	Het
Nuak2	G	A	1: 132,255,878 (GRCm39)	V184I	probably damaging	Het
Phf11a	T	C	14: 59,524,950 (GRCm39)	I85V	probably damaging	Het
Polr2e	C	A	10: 79,875,467 (GRCm39)	D3Y	probably damaging	Het
Ralb	A	G	1: 119,411,279 (GRCm39)	V20A	probably damaging	Het
Rln1	A	T	19: 29,309,260 (GRCm39)	V173D	probably benign	Het
Stk38l	T	A	6: 146,673,152 (GRCm39)	C304S	probably damaging	Het
Stk38l	T	C	6: 146,673,725 (GRCm39)		probably benign	Het
Tjp1	G	T	7: 64,985,926 (GRCm39)	D288E	possibly damaging	Het
Trpm3	A	G	19: 22,964,491 (GRCm39)	I1319V	probably benign	Het
Zic2	T	G	14: 122,716,294 (GRCm39)		probably benign	Het

Other mutations in Ly6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0281:Ly6a	UTSW	15	74,867,236 (GRCm39)	missense	probably benign	0.28
R1224:Ly6a	UTSW	15	74,868,327 (GRCm39)	missense	possibly damaging	0.64
R7201:Ly6a	UTSW	15	74,868,325 (GRCm39)	missense	probably benign	0.01
R7774:Ly6a	UTSW	15	74,869,416 (GRCm39)	missense	probably damaging	1.00
R8070:Ly6a	UTSW	15	74,869,449 (GRCm39)	missense	probably damaging	1.00
R8176:Ly6a	UTSW	15	74,868,300 (GRCm39)	critical splice donor site	probably null
R9095:Ly6a	UTSW	15	74,867,333 (GRCm39)	unclassified	probably benign
R9101:Ly6a	UTSW	15	74,869,419 (GRCm39)	missense	probably null	0.99

Posted On

2013-12-09