Mutagenetix > Incidental Mutation

Incidental Mutation 'R5048:Pigb'

394470

Institutional Source

Beutler Lab

Gene Symbol

Pigb

Ensembl Gene

ENSMUSG00000079469

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class B

Synonyms

MMRRC Submission

042638-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.754) question?

Stock #

R5048 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

72920639-72946973 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 72936990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098566] [ENSMUST00000098566] [ENSMUST00000098566] [ENSMUST00000098566] [ENSMUST00000183746] [ENSMUST00000183746] [ENSMUST00000183746] [ENSMUST00000183746] [ENSMUST00000184035] [ENSMUST00000184035] [ENSMUST00000184035] [ENSMUST00000184035] [ENSMUST00000184389] [ENSMUST00000184389] [ENSMUST00000184389] [ENSMUST00000184389]

AlphaFold

Q9JJQ0

Predicted Effect

probably null
Transcript: ENSMUST00000098566

SMART Domains

Protein: ENSMUSP00000096165
Gene: ENSMUSG00000079469

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

Predicted Effect

probably null
Transcript: ENSMUST00000098566

SMART Domains

Protein: ENSMUSP00000096165
Gene: ENSMUSG00000079469

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

Predicted Effect

probably null
Transcript: ENSMUST00000098566

SMART Domains

Protein: ENSMUSP00000096165
Gene: ENSMUSG00000079469

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

Predicted Effect

probably null
Transcript: ENSMUST00000098566

SMART Domains

Protein: ENSMUSP00000096165
Gene: ENSMUSG00000079469

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183587

Predicted Effect

probably benign
Transcript: ENSMUST00000183746

SMART Domains

Protein: ENSMUSP00000138885
Gene: ENSMUSG00000079469

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183746

SMART Domains

Protein: ENSMUSP00000138885
Gene: ENSMUSG00000079469

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183746

SMART Domains

Protein: ENSMUSP00000138885
Gene: ENSMUSG00000079469

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183746

SMART Domains

Protein: ENSMUSP00000138885
Gene: ENSMUSG00000079469

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183904

Predicted Effect

probably benign
Transcript: ENSMUST00000183904

Predicted Effect

probably benign
Transcript: ENSMUST00000183904

Predicted Effect

probably benign
Transcript: ENSMUST00000183904

Predicted Effect

probably null
Transcript: ENSMUST00000184035

SMART Domains

Protein: ENSMUSP00000139269
Gene: ENSMUSG00000079469

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

Predicted Effect

probably null
Transcript: ENSMUST00000184035

SMART Domains

Protein: ENSMUSP00000139269
Gene: ENSMUSG00000079469

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

Predicted Effect

probably null
Transcript: ENSMUST00000184035

SMART Domains

Protein: ENSMUSP00000139269
Gene: ENSMUSG00000079469

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

Predicted Effect

probably null
Transcript: ENSMUST00000184035

SMART Domains

Protein: ENSMUSP00000139269
Gene: ENSMUSG00000079469

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

Predicted Effect

probably null
Transcript: ENSMUST00000184389

SMART Domains

Protein: ENSMUSP00000139076
Gene: ENSMUSG00000079469

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

Predicted Effect

probably null
Transcript: ENSMUST00000184389

SMART Domains

Protein: ENSMUSP00000139076
Gene: ENSMUSG00000079469

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

Predicted Effect

probably null
Transcript: ENSMUST00000184389

SMART Domains

Protein: ENSMUSP00000139076
Gene: ENSMUSG00000079469

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

Predicted Effect

probably null
Transcript: ENSMUST00000184389

SMART Domains

Protein: ENSMUSP00000139076
Gene: ENSMUSG00000079469

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194364

Meta Mutation Damage Score

0.9499

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.1%

Validation Efficiency

98% (64/65)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,138,850 (GRCm39)	I144V	probably benign	Het
Abhd5	T	C	9: 122,206,968 (GRCm39)	Y85H	probably damaging	Het
Acadsb	G	A	7: 131,039,198 (GRCm39)	G323D	probably damaging	Het
Amotl2	A	G	9: 102,600,997 (GRCm39)	R322G	probably benign	Het
Aox1	A	T	1: 58,098,641 (GRCm39)		probably benign	Het
Aste1	C	T	9: 105,274,188 (GRCm39)	R82W	probably damaging	Het
Atg4b	T	C	1: 93,703,380 (GRCm39)	I139T	possibly damaging	Het
Btnl5-ps	T	A	17: 34,707,697 (GRCm39)		noncoding transcript	Het
Ccdc85c	A	G	12: 108,187,966 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,475,340 (GRCm39)		probably benign	Het
Defb10	G	A	8: 22,351,887 (GRCm39)	C44Y	probably damaging	Het
Dhrs9	T	C	2: 69,224,744 (GRCm39)	V144A	probably damaging	Het
Dnhd1	G	C	7: 105,342,904 (GRCm39)	S1416T	probably benign	Het
Dok1	T	A	6: 83,009,087 (GRCm39)		probably benign	Het
Emilin2	G	A	17: 71,580,962 (GRCm39)	T588M	probably damaging	Het
Fam181b	A	G	7: 92,729,147 (GRCm39)		probably benign	Het
Fhad1	T	C	4: 141,691,987 (GRCm39)		probably null	Het
Foxi2	A	G	7: 135,013,364 (GRCm39)	E198G	probably damaging	Het
Fsip2	C	A	2: 82,823,494 (GRCm39)	A6409E	probably damaging	Het
Gje1	T	C	10: 14,593,021 (GRCm39)	Y65C	probably damaging	Het
Gm6401	T	C	14: 41,789,724 (GRCm39)		probably null	Het
Gprc5c	T	C	11: 114,761,177 (GRCm39)	*442Q	probably null	Het
Iars1	T	A	13: 49,841,713 (GRCm39)	I67N	probably damaging	Het
Igkv4-79	T	C	6: 69,019,971 (GRCm39)	S115G	probably benign	Het
Itga4	C	A	2: 79,103,378 (GRCm39)	S156R	probably benign	Het
Lilra6	C	T	7: 3,918,440 (GRCm39)		probably null	Het
Majin	C	A	19: 6,272,684 (GRCm39)	A208E	probably benign	Het
Megf8	A	G	7: 25,030,517 (GRCm39)	Q490R	possibly damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mgarp	G	A	3: 51,298,707 (GRCm39)	R88C	probably damaging	Het
Msh2	T	C	17: 87,980,196 (GRCm39)	F58S	probably damaging	Het
Nemp1	T	C	10: 127,526,804 (GRCm39)		probably null	Het
Nlrp10	A	T	7: 108,523,772 (GRCm39)	N569K	probably benign	Het
Nxpe2	T	C	9: 48,237,388 (GRCm39)		probably null	Het
Or4c106	T	C	2: 88,682,807 (GRCm39)	V171A	possibly damaging	Het
Or5w16	C	A	2: 87,576,663 (GRCm39)	A41E	probably benign	Het
Pdcd11	C	A	19: 47,095,554 (GRCm39)	S625R	probably benign	Het
Pitpnb	T	C	5: 111,530,869 (GRCm39)	F221L	possibly damaging	Het
Prox2	A	T	12: 85,141,115 (GRCm39)	W363R	probably damaging	Het
Psmg1	T	A	16: 95,785,171 (GRCm39)	R139S	probably benign	Het
Rab11fip3	A	G	17: 26,286,554 (GRCm39)		probably null	Het
Samd9l	G	A	6: 3,374,157 (GRCm39)	R1035C	probably benign	Het
Shkbp1	G	A	7: 27,051,521 (GRCm39)		probably benign	Het
Slc30a5	C	A	13: 100,943,249 (GRCm39)	L536F	probably damaging	Het
Slc6a17	A	T	3: 107,378,753 (GRCm39)	L643*	probably null	Het
Slit3	T	C	11: 35,479,812 (GRCm39)	Y330H	probably damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Stoml3	A	C	3: 53,408,213 (GRCm39)	K86N	possibly damaging	Het
Tmtc1	A	T	6: 148,139,344 (GRCm39)	L926Q	possibly damaging	Het
Tns4	T	G	11: 98,969,605 (GRCm39)	R285S	possibly damaging	Het
Uncx	C	T	5: 139,532,874 (GRCm39)	T313M	probably benign	Het
Vmn2r75	G	A	7: 85,814,735 (GRCm39)	R253C	possibly damaging	Het
Zbed6	T	C	1: 133,586,462 (GRCm39)	S292G	probably damaging	Het
Zfp143	A	G	7: 109,673,325 (GRCm39)	T142A	probably damaging	Het
Zfp287	T	C	11: 62,605,777 (GRCm39)	K366E	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
IGL01792:Pigb	APN	9	72,925,268 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGTTATAGATGGCACCACAGC -3'
(R):5'- ATACCTTCCTTCTTGTGAGTGG -3'

Sequencing Primer
(F):5'- AGCCAGACTTACCCTACAGG -3'
(R):5'- AGATGCTCTTCCACTAGGCTAGAC -3'

Posted On

2016-06-15