Mutagenetix > Incidental Mutation

Incidental Mutation 'R2375:Mpig6b'

248272

Institutional Source

Beutler Lab

Gene Symbol

Mpig6b

Ensembl Gene

ENSMUSG00000073414

Gene Name

megakaryocyte and platelet inhibitory receptor G6b

Synonyms

G6b, AU023871

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2375 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35281669-35285160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35283359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 226 (M226I)

Ref Sequence

ENSEMBL: ENSMUSP00000133377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007255] [ENSMUST00000097337] [ENSMUST00000173207] [ENSMUST00000173478] [ENSMUST00000173520] [ENSMUST00000174190] [ENSMUST00000174876] [ENSMUST00000174493]

AlphaFold

D7PDD4

Predicted Effect

probably benign
Transcript: ENSMUST00000007255

SMART Domains

Protein: ENSMUSP00000007255
Gene: ENSMUSG00000007039

Domain	Start	End	E-Value	Type
PDB:2JAJ\|B	1	282	1e-77	PDB
SCOP:d1h70a_	13	277	1e-48	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000097337
AA Change: C183Y

SMART Domains

Protein: ENSMUSP00000094950
Gene: ENSMUSG00000073414
AA Change: C183Y

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	20	121	3.27e0	SMART
low complexity region	145	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173207

SMART Domains

Protein: ENSMUSP00000134194
Gene: ENSMUSG00000092586

Domain	Start	End	E-Value	Type
low complexity region	22	39	N/A	INTRINSIC
Blast:LU	48	136	3e-57	BLAST
low complexity region	139	151	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173478

SMART Domains

Protein: ENSMUSP00000133510
Gene: ENSMUSG00000092586

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Blast:LU	22	110	2e-57	BLAST
low complexity region	113	125	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173520

SMART Domains

Protein: ENSMUSP00000134595
Gene: ENSMUSG00000007039

Domain	Start	End	E-Value	Type
Pfam:Amidinotransf	28	157	1.1e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173562

Predicted Effect

probably benign
Transcript: ENSMUST00000174190
AA Change: M226I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000133377
Gene: ENSMUSG00000073414
AA Change: M226I

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	20	121	3.27e0	SMART
low complexity region	145	160	N/A	INTRINSIC
low complexity region	168	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174876

SMART Domains

Protein: ENSMUSP00000133838
Gene: ENSMUSG00000092586

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Blast:LU	22	56	9e-18	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000174493

SMART Domains

Protein: ENSMUSP00000134072
Gene: ENSMUSG00000007039

Domain	Start	End	E-Value	Type
Pfam:Amidinotransf	30	232	5e-27	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit macrothrombocytopenic, increased platelet turnover, enlarged spleen, extramedullary hematopoiesis, myelofibrosis, increased bleeding time, and impaired stimulated platelet adhesion, aggregation and ATP sectretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Arhgef7	A	G	8: 11,864,995 (GRCm39)	N369S	probably benign	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Cps1	G	A	1: 67,257,019 (GRCm39)	M1312I	probably benign	Het
Fbn2	A	C	18: 58,169,038 (GRCm39)	I2247S	probably damaging	Het
Gtf2ird2	T	A	5: 134,245,977 (GRCm39)	L745Q	probably benign	Het
Lrr1	A	G	12: 69,221,697 (GRCm39)	T280A	probably benign	Het
Myo1a	A	G	10: 127,541,159 (GRCm39)	D12G	probably damaging	Het
Odr4	A	G	1: 150,265,985 (GRCm39)		probably null	Het
Or6c1	A	G	10: 129,518,032 (GRCm39)	F192S	probably benign	Het
Orc5	A	G	5: 22,751,550 (GRCm39)	L71P	probably damaging	Het
Phc2	T	C	4: 128,616,818 (GRCm39)	S364P	probably benign	Het
Ramp3	G	T	11: 6,626,643 (GRCm39)	V117L	probably benign	Het
Rpap1	C	A	2: 119,600,888 (GRCm39)	W836L	possibly damaging	Het
Syt13	G	A	2: 92,776,496 (GRCm39)	G261D	probably benign	Het
Taf6	A	T	5: 138,180,463 (GRCm39)	Y300*	probably null	Het
Thsd7a	T	C	6: 12,337,361 (GRCm39)	S1219G	probably damaging	Het
Tmco3	T	C	8: 13,342,059 (GRCm39)	F111S	possibly damaging	Het
Upk1b	C	T	16: 38,607,490 (GRCm39)	G79E	probably damaging	Het
Zc3h7b	G	A	15: 81,676,703 (GRCm39)	V773M	probably benign	Het
Zfp655	A	G	5: 145,181,206 (GRCm39)	T355A	probably benign	Het

Other mutations in Mpig6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0503:Mpig6b	UTSW	17	35,283,424 (GRCm39)	unclassified	probably benign
R7098:Mpig6b	UTSW	17	35,283,320 (GRCm39)	missense	unknown
R8125:Mpig6b	UTSW	17	35,284,328 (GRCm39)	missense	probably damaging	0.98
Z1176:Mpig6b	UTSW	17	35,284,316 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGCAAACCAGGTAGTCAG -3'
(R):5'- AGCCTAGCTAGGTTGCTGTG -3'

Sequencing Primer
(F):5'- AGGTAGTCAGTCGCCTCTATCAG -3'
(R):5'- CAGCACTCTGGAGGTTTAAGC -3'

Posted On

2014-11-11