Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01792:Pigb'

155257

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pigb

Ensembl Gene

ENSMUSG00000079469

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class B

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.754) question?

Stock #

IGL01792

Quality Score

Status

Chromosome

Chromosomal Location

72920639-72946973 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72925268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 396 (H396Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037977] [ENSMUST00000085350] [ENSMUST00000093819] [ENSMUST00000098566] [ENSMUST00000124008] [ENSMUST00000140675] [ENSMUST00000184389] [ENSMUST00000183746] [ENSMUST00000184035] [ENSMUST00000150826] [ENSMUST00000149692]

AlphaFold

Q9JJQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000037977

SMART Domains

Protein: ENSMUSP00000045669
Gene: ENSMUSG00000034563

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
low complexity region	83	94	N/A	INTRINSIC
low complexity region	155	174	N/A	INTRINSIC
low complexity region	187	209	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
coiled coil region	296	450	N/A	INTRINSIC
low complexity region	566	572	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085350

SMART Domains

Protein: ENSMUSP00000082458
Gene: ENSMUSG00000034563

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
low complexity region	83	94	N/A	INTRINSIC
low complexity region	155	174	N/A	INTRINSIC
low complexity region	187	209	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
coiled coil region	296	450	N/A	INTRINSIC
low complexity region	566	572	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093819

Predicted Effect

probably damaging
Transcript: ENSMUST00000098566
AA Change: H396Q

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

SMART Domains

Protein: ENSMUSP00000096165
Gene: ENSMUSG00000079469
AA Change: H396Q

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	51	438	4.7e-122	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124008

SMART Domains

Protein: ENSMUSP00000121059
Gene: ENSMUSG00000034563

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
low complexity region	83	94	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138466

Predicted Effect

probably benign
Transcript: ENSMUST00000140675

SMART Domains

Protein: ENSMUSP00000116976
Gene: ENSMUSG00000034563

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
low complexity region	83	94	N/A	INTRINSIC
low complexity region	155	174	N/A	INTRINSIC
low complexity region	187	209	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
coiled coil region	296	450	N/A	INTRINSIC
low complexity region	566	572	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000184389
AA Change: H396Q

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

SMART Domains

Protein: ENSMUSP00000139076
Gene: ENSMUSG00000079469
AA Change: H396Q

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	51	438	3.9e-122	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000183746
AA Change: H396Q

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

SMART Domains

Protein: ENSMUSP00000138885
Gene: ENSMUSG00000079469
AA Change: H396Q

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	51	438	3.9e-122	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000184035
AA Change: H396Q

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

SMART Domains

Protein: ENSMUSP00000139269
Gene: ENSMUSG00000079469
AA Change: H396Q

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	51	438	3.9e-122	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184776

Predicted Effect

probably benign
Transcript: ENSMUST00000150826

SMART Domains

Protein: ENSMUSP00000122966
Gene: ENSMUSG00000034563

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
low complexity region	83	94	N/A	INTRINSIC
low complexity region	155	174	N/A	INTRINSIC
low complexity region	187	209	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
coiled coil region	296	450	N/A	INTRINSIC
low complexity region	566	572	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183904

Predicted Effect

probably benign
Transcript: ENSMUST00000149692

SMART Domains

Protein: ENSMUSP00000120629
Gene: ENSMUSG00000089865

Domain	Start	End	E-Value	Type
Pfam:CS	6	77	2.1e-9	PFAM
coiled coil region	101	161	N/A	INTRINSIC
Pfam:TPR_11	286	352	2e-14	PFAM
Pfam:TPR_1	322	352	5.6e-6	PFAM
Blast:TPR	364	386	1e-5	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	G	T	17: 48,452,680 (GRCm39)	F86L	probably damaging	Het
A2ml1	T	C	6: 128,537,642 (GRCm39)	T690A	probably benign	Het
Adam3	T	C	8: 25,187,219 (GRCm39)	N424S	probably benign	Het
Adarb2	T	C	13: 8,620,185 (GRCm39)	F224L	probably damaging	Het
Clcn3	T	C	8: 61,382,356 (GRCm39)	T438A	probably damaging	Het
Cyp2c55	A	G	19: 39,030,631 (GRCm39)	I488V	probably benign	Het
Dennd1a	A	G	2: 38,016,592 (GRCm39)	F84S	probably damaging	Het
Dennd4b	A	G	3: 90,187,152 (GRCm39)	R1475G	probably damaging	Het
Ift172	G	A	5: 31,434,215 (GRCm39)	R508W	probably damaging	Het
Khdrbs2	C	T	1: 32,696,548 (GRCm39)	R326C	probably damaging	Het
Krt78	T	G	15: 101,855,085 (GRCm39)	M909L	probably benign	Het
Ncapg2	T	A	12: 116,389,438 (GRCm39)	F353I	probably damaging	Het
Or10d4c	A	T	9: 39,558,955 (GRCm39)	N311I	probably benign	Het
Rev3l	C	T	10: 39,699,336 (GRCm39)	P1278S	probably benign	Het
Setd1b	T	A	5: 123,295,209 (GRCm39)	V955D	unknown	Het
Slc22a16	T	A	10: 40,449,928 (GRCm39)	H121Q	possibly damaging	Het
Slc22a29	A	T	19: 8,195,893 (GRCm39)	C49S	probably damaging	Het
Smad1	T	C	8: 80,098,752 (GRCm39)	K21E	probably damaging	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Spic	A	G	10: 88,515,807 (GRCm39)	I5T	possibly damaging	Het
Srpk1	G	A	17: 28,818,441 (GRCm39)		probably benign	Het
Tubgcp6	T	C	15: 88,985,484 (GRCm39)	D1559G	probably damaging	Het
Unc13b	T	C	4: 43,250,218 (GRCm39)	F992L	probably damaging	Het

Other mutations in Pigb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Pigb	APN	9	72,929,573 (GRCm39)	missense	probably damaging	0.98
IGL02416:Pigb	APN	9	72,924,714 (GRCm39)	missense	probably benign	0.00
R2396:Pigb	UTSW	9	72,922,553 (GRCm39)	nonsense	probably null
R2914:Pigb	UTSW	9	72,947,060 (GRCm39)	splice site	probably null
R3830:Pigb	UTSW	9	72,924,755 (GRCm39)	missense	probably benign	0.03
R5048:Pigb	UTSW	9	72,936,990 (GRCm39)	critical splice acceptor site	probably null
R5158:Pigb	UTSW	9	72,929,683 (GRCm39)	missense	probably damaging	1.00
R5180:Pigb	UTSW	9	72,941,872 (GRCm39)	missense	probably damaging	0.99
R5385:Pigb	UTSW	9	72,946,827 (GRCm39)	missense	probably benign	0.05
R5866:Pigb	UTSW	9	72,936,966 (GRCm39)	missense	probably damaging	1.00
R7460:Pigb	UTSW	9	72,945,957 (GRCm39)	missense	probably damaging	0.99
R7552:Pigb	UTSW	9	72,941,770 (GRCm39)	missense	probably benign	0.30
R8005:Pigb	UTSW	9	72,922,546 (GRCm39)	missense	unknown
R8136:Pigb	UTSW	9	72,929,602 (GRCm39)	missense	possibly damaging	0.77
R8525:Pigb	UTSW	9	72,924,809 (GRCm39)	missense	probably damaging	1.00
R8955:Pigb	UTSW	9	72,945,983 (GRCm39)	missense	probably damaging	0.99
R8988:Pigb	UTSW	9	72,929,576 (GRCm39)	missense	probably damaging	1.00
R9526:Pigb	UTSW	9	72,941,840 (GRCm39)	missense	probably damaging	0.99
Z1176:Pigb	UTSW	9	72,941,854 (GRCm39)	missense	probably benign

Posted On

2014-02-04