Mutagenetix > Incidental Mutation

Incidental Mutation 'R8005:Pigb'

616575

Institutional Source

Beutler Lab

Gene Symbol

Pigb

Ensembl Gene

ENSMUSG00000079469

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class B

Synonyms

MMRRC Submission

046045-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.718) question?

Stock #

R8005 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72920639-72946973 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72922546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 13 (M13K)

Ref Sequence

ENSEMBL: ENSMUSP00000091337 (fasta)

Gene Model

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

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

unknown
Transcript: ENSMUST00000093819
AA Change: M13K

Predicted Effect

probably benign
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 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

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 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

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: 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: 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 benign
Transcript: ENSMUST00000184389

SMART Domains

Protein: ENSMUSP00000139076
Gene: ENSMUSG00000079469

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	A	G	12: 84,063,774 (GRCm39)	D294G	probably benign	Het
Ak8	A	T	2: 28,602,314 (GRCm39)	S83C	probably benign	Het
Ankrd34b	C	A	13: 92,575,230 (GRCm39)	A154E	possibly damaging	Het
Anks1	A	G	17: 28,278,341 (GRCm39)	D1175G	probably damaging	Het
Ano4	T	A	10: 88,807,183 (GRCm39)	L799F	probably benign	Het
Aplp1	T	C	7: 30,135,470 (GRCm39)		probably null	Het
Apob	A	T	12: 8,059,744 (GRCm39)	H2742L	probably benign	Het
Apol7e	C	T	15: 77,602,277 (GRCm39)	Q292*	probably null	Het
Atp2b1	G	A	10: 98,830,661 (GRCm39)	G374D	probably damaging	Het
B4galt5	A	G	2: 167,143,384 (GRCm39)	S347P	probably damaging	Het
Bcl11b	T	C	12: 107,882,456 (GRCm39)	T620A	probably benign	Het
Bco2	T	A	9: 50,450,213 (GRCm39)	D329V	probably damaging	Het
Cd200l2	T	C	16: 45,352,400 (GRCm39)		probably benign	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Copg2	T	A	6: 30,873,632 (GRCm39)	M1L	possibly damaging	Het
D430041D05Rik	G	A	2: 104,088,599 (GRCm39)	H164Y	possibly damaging	Het
Dscaml1	G	T	9: 45,628,808 (GRCm39)	G1121C	probably damaging	Het
Gas2l1	A	T	11: 5,011,552 (GRCm39)	S426T	probably benign	Het
Gm9195	T	A	14: 72,663,840 (GRCm39)	I2740F	probably benign	Het
Irgm1	A	G	11: 48,757,217 (GRCm39)	I214T	probably damaging	Het
Kbtbd3	C	T	9: 4,330,655 (GRCm39)	T343I	probably damaging	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Ly75	A	T	2: 60,163,278 (GRCm39)	Y804N	probably damaging	Het
Mgat2	A	G	12: 69,232,722 (GRCm39)	H432R	probably damaging	Het
Nsrp1	A	T	11: 76,936,612 (GRCm39)	M528K	probably damaging	Het
Nup54	T	C	5: 92,576,006 (GRCm39)	I162V	probably benign	Het
Obsl1	T	A	1: 75,482,096 (GRCm39)	N258I	probably damaging	Het
Or1j4	A	G	2: 36,740,156 (GRCm39)	T33A	probably benign	Het
Or2y1b	G	T	11: 49,208,968 (GRCm39)	M198I	probably benign	Het
Or5p6	T	C	7: 107,631,470 (GRCm39)	R27G	possibly damaging	Het
Or5p73	T	C	7: 108,064,693 (GRCm39)	V54A	probably benign	Het
Pax2	G	A	19: 44,749,328 (GRCm39)	V20M	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pik3c2a	T	C	7: 116,017,271 (GRCm39)	Y162C	probably damaging	Het
Pik3c2g	A	T	6: 139,599,067 (GRCm39)	D61V	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Pramel17	A	G	4: 101,694,448 (GRCm39)	V145A	probably damaging	Het
Prss46	A	G	9: 110,685,144 (GRCm39)	D256G	probably benign	Het
Rims1	G	T	1: 22,482,437 (GRCm39)	D196E		Het
Sbf1	A	G	15: 89,178,408 (GRCm39)	L1498P	probably damaging	Het
Sh2b1	T	C	7: 126,068,479 (GRCm39)	D444G	possibly damaging	Het
Slc7a15	T	G	12: 8,589,395 (GRCm39)	M51L	probably damaging	Het
Slitrk1	T	C	14: 109,150,697 (GRCm39)	I5V	probably benign	Het
Spart	T	A	3: 55,024,773 (GRCm39)	C123S	probably benign	Het
Sry	C	T	Y: 2,663,303 (GRCm39)	R119K	possibly damaging	Het
Tasor2	C	T	13: 3,625,681 (GRCm39)	S1423N	probably benign	Het
Tbcc	T	C	17: 47,201,686 (GRCm39)	V24A	possibly damaging	Het
Tfap2a	T	A	13: 40,872,684 (GRCm39)	M331L	possibly damaging	Het
Thnsl1	A	G	2: 21,216,755 (GRCm39)	I170V	probably benign	Het
Ticrr	T	G	7: 79,343,796 (GRCm39)	S1220R	probably damaging	Het
Tmem262	T	C	19: 6,130,507 (GRCm39)	M77T	possibly damaging	Het
Tmem67	A	G	4: 12,047,821 (GRCm39)	S771P	probably damaging	Het
Tsc2	G	A	17: 24,818,570 (GRCm39)	A1423V	probably damaging	Het
Ubr4	T	A	4: 139,139,941 (GRCm39)	Y1175N	probably damaging	Het
Usp25	G	A	16: 76,873,956 (GRCm39)	A511T	probably benign	Het
Vmn2r115	T	A	17: 23,563,124 (GRCm39)	Y58*	probably null	Het
Wt1	T	C	2: 104,957,789 (GRCm39)		probably null	Het
Zfp735	A	T	11: 73,603,140 (GRCm39)	K695*	probably null	Het
Zkscan14	A	G	5: 145,132,568 (GRCm39)	F321S	possibly damaging	Het
Zswim9	T	C	7: 12,995,064 (GRCm39)	E364G	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
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
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'- TGCTTCCTGGAGTGATAACGG -3'
(R):5'- AGATTTGCCGTGTGTCTTCC -3'

Sequencing Primer
(F):5'- GAAACGCCTCATTATTTTATGGTTAC -3'
(R):5'- AGCGCGACCGTATTTTTGC -3'

Posted On

2020-01-23