Mutagenetix > Incidental Mutation

Incidental Mutation 'R5970:Pigp'

470828

Institutional Source

Beutler Lab

Gene Symbol

Pigp

Ensembl Gene

ENSMUSG00000022940

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class P

Synonyms

Dcrc, Dscr5

MMRRC Submission

044153-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.675) question?

Stock #

R5970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94358763-94371842 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 94370194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113905] [ENSMUST00000113905] [ENSMUST00000113905] [ENSMUST00000113906] [ENSMUST00000113906] [ENSMUST00000113906] [ENSMUST00000113910] [ENSMUST00000113910] [ENSMUST00000113910] [ENSMUST00000113914] [ENSMUST00000113914] [ENSMUST00000113914] [ENSMUST00000113917] [ENSMUST00000117648] [ENSMUST00000119131] [ENSMUST00000122895] [ENSMUST00000138514] [ENSMUST00000155692] [ENSMUST00000153988] [ENSMUST00000145432] [ENSMUST00000151770] [ENSMUST00000149885] [ENSMUST00000143145] [ENSMUST00000154243] [ENSMUST00000152117] [ENSMUST00000232294] [ENSMUST00000232294] [ENSMUST00000232294] [ENSMUST00000231569] [ENSMUST00000147046] [ENSMUST00000147352] [ENSMUST00000150346] [ENSMUST00000153062] [ENSMUST00000150097] [ENSMUST00000139513] [ENSMUST00000145883] [ENSMUST00000141856]

AlphaFold

Q9JHG1

Predicted Effect

probably null
Transcript: ENSMUST00000113905

SMART Domains

Protein: ENSMUSP00000109538
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	10	125	7.6e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113905

SMART Domains

Protein: ENSMUSP00000109538
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	10	125	7.6e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113905

SMART Domains

Protein: ENSMUSP00000109538
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	10	125	7.6e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113906

SMART Domains

Protein: ENSMUSP00000109539
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	10	125	7.6e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113906

SMART Domains

Protein: ENSMUSP00000109539
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	10	125	7.6e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113906

SMART Domains

Protein: ENSMUSP00000109539
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	10	125	7.6e-45	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113910

SMART Domains

Protein: ENSMUSP00000109543
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	39	154	1.5e-44	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113910

SMART Domains

Protein: ENSMUSP00000109543
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	39	154	1.5e-44	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113910

SMART Domains

Protein: ENSMUSP00000109543
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
Pfam:PIG-P	39	154	1.5e-44	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113914

SMART Domains

Protein: ENSMUSP00000109547
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
low complexity region	11	19	N/A	INTRINSIC
Pfam:PIG-P	84	197	1e-43	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113914

SMART Domains

Protein: ENSMUSP00000109547
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
low complexity region	11	19	N/A	INTRINSIC
Pfam:PIG-P	84	197	1e-43	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113914

SMART Domains

Protein: ENSMUSP00000109547
Gene: ENSMUSG00000022940

Domain	Start	End	E-Value	Type
low complexity region	11	19	N/A	INTRINSIC
Pfam:PIG-P	84	197	1e-43	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113917
AA Change: R26*

SMART Domains

Protein: ENSMUSP00000109550
Gene: ENSMUSG00000022940
AA Change: R26*

Domain	Start	End	E-Value	Type
Pfam:PIG-P	43	135	5.6e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117648

SMART Domains

Protein: ENSMUSP00000112801
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	231	264	3.61e-2	SMART
TPR	265	298	3.32e-1	SMART
Blast:TPR	300	332	2e-12	BLAST
low complexity region	444	459	N/A	INTRINSIC
TPR	576	609	2.55e-2	SMART
low complexity region	720	732	N/A	INTRINSIC
coiled coil region	765	796	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC
low complexity region	1036	1050	N/A	INTRINSIC
low complexity region	1170	1190	N/A	INTRINSIC
low complexity region	1248	1260	N/A	INTRINSIC
low complexity region	1278	1291	N/A	INTRINSIC
coiled coil region	1472	1570	N/A	INTRINSIC
low complexity region	1876	1887	N/A	INTRINSIC
RING	1931	1970	7e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119131

SMART Domains

Protein: ENSMUSP00000113311
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Pfam:TPR_11	229	285	1.1e-12	PFAM
Pfam:TPR_1	232	264	2.1e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122895

SMART Domains

Protein: ENSMUSP00000123037
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	213	246	3.61e-2	SMART
TPR	247	280	3.32e-1	SMART
Blast:TPR	282	314	3e-12	BLAST
low complexity region	426	441	N/A	INTRINSIC
TPR	558	591	2.55e-2	SMART
low complexity region	702	714	N/A	INTRINSIC
coiled coil region	747	778	N/A	INTRINSIC
low complexity region	1000	1014	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127667

SMART Domains

Protein: ENSMUSP00000122425
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Pfam:TPR_11	22	89	4.7e-16	PFAM
Pfam:TPR_2	24	57	5.7e-4	PFAM
Pfam:TPR_1	25	57	3.5e-5	PFAM
Pfam:TPR_9	35	103	3.2e-6	PFAM
Pfam:TPR_1	58	89	2.1e-4	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130960

Predicted Effect

probably null
Transcript: ENSMUST00000138514
AA Change: R26*

SMART Domains

Protein: ENSMUSP00000114477
Gene: ENSMUSG00000022940
AA Change: R26*

Domain	Start	End	E-Value	Type
Pfam:PIG-P	43	152	1.2e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149753

Predicted Effect

probably benign
Transcript: ENSMUST00000155692

SMART Domains

Protein: ENSMUSP00000122724
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	250	283	3.61e-2	SMART
TPR	284	317	3.32e-1	SMART
Blast:TPR	319	351	3e-12	BLAST
low complexity region	463	478	N/A	INTRINSIC
TPR	595	628	2.55e-2	SMART
low complexity region	739	751	N/A	INTRINSIC
coiled coil region	784	815	N/A	INTRINSIC
low complexity region	1037	1051	N/A	INTRINSIC
low complexity region	1055	1069	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153988

SMART Domains

Protein: ENSMUSP00000118763
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Blast:TPR	1	22	3e-6	BLAST
low complexity region	134	149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145432

Predicted Effect

probably benign
Transcript: ENSMUST00000151770

SMART Domains

Protein: ENSMUSP00000121349
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	231	264	3.61e-2	SMART
TPR	265	298	3.32e-1	SMART
Blast:TPR	300	332	3e-12	BLAST
low complexity region	444	459	N/A	INTRINSIC
TPR	576	609	2.55e-2	SMART
low complexity region	720	732	N/A	INTRINSIC
coiled coil region	765	796	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC
low complexity region	1036	1050	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149885

SMART Domains

Protein: ENSMUSP00000122006
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Pfam:TPR_2	1	31	3.5e-4	PFAM
Pfam:TPR_11	1	58	7.8e-16	PFAM
Pfam:TPR_1	2	31	1.8e-5	PFAM
Pfam:TPR_9	9	58	2.5e-6	PFAM
Pfam:TPR_17	20	53	4.2e-7	PFAM
Pfam:TPR_1	32	58	2.5e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143145

Predicted Effect

probably benign
Transcript: ENSMUST00000154243

Predicted Effect

probably benign
Transcript: ENSMUST00000152117

SMART Domains

Protein: ENSMUSP00000116896
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
SCOP:d1ihga1	69	201	6e-8	SMART
Blast:TPR	175	208	1e-14	BLAST
low complexity region	319	331	N/A	INTRINSIC
coiled coil region	364	395	N/A	INTRINSIC
low complexity region	617	631	N/A	INTRINSIC
low complexity region	635	649	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000232294

Predicted Effect

probably null
Transcript: ENSMUST00000232294

Predicted Effect

probably null
Transcript: ENSMUST00000232294

Predicted Effect

probably benign
Transcript: ENSMUST00000231569

Predicted Effect

probably benign
Transcript: ENSMUST00000147046

SMART Domains

Protein: ENSMUSP00000119265
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
Pfam:TPR_1	175	206	5.3e-6	PFAM
low complexity region	319	331	N/A	INTRINSIC
low complexity region	359	382	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147352

SMART Domains

Protein: ENSMUSP00000116097
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
TPR	213	246	3.61e-2	SMART
TPR	247	280	3.32e-1	SMART
Blast:TPR	282	314	3e-12	BLAST
low complexity region	426	441	N/A	INTRINSIC
TPR	558	591	2.55e-2	SMART
low complexity region	702	714	N/A	INTRINSIC
coiled coil region	747	778	N/A	INTRINSIC
low complexity region	1000	1014	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150346

SMART Domains

Protein: ENSMUSP00000122726
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC
Pfam:TPR_1	175	206	9.6e-6	PFAM
low complexity region	319	331	N/A	INTRINSIC
coiled coil region	364	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153062

Predicted Effect

probably benign
Transcript: ENSMUST00000150097

SMART Domains

Protein: ENSMUSP00000119035
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Blast:TPR	1	22	1e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000139513

SMART Domains

Protein: ENSMUSP00000117881
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
low complexity region	8	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145883

SMART Domains

Protein: ENSMUSP00000123442
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
transmembrane domain	42	64	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141856

SMART Domains

Protein: ENSMUSP00000117369
Gene: ENSMUSG00000040785

Domain	Start	End	E-Value	Type
Pfam:TPR_1	90	121	1e-6	PFAM
Pfam:TPR_2	90	121	7.9e-6	PFAM

Meta Mutation Damage Score

0.9665

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l1	G	A	6: 90,597,046 (GRCm38)		probably benign	Het
Ambn	T	C	5: 88,467,951 (GRCm38)	V413A	possibly damaging	Het
Amotl1	T	A	9: 14,596,528 (GRCm38)	D41V	probably damaging	Het
Arhgef26	T	C	3: 62,340,047 (GRCm38)	V184A	probably benign	Het
Birc6	G	T	17: 74,618,502 (GRCm38)	G936V	possibly damaging	Het
Ccser1	T	A	6: 61,311,242 (GRCm38)	S130T	possibly damaging	Het
Cecr2	A	G	6: 120,720,907 (GRCm38)	I56V	probably damaging	Het
Cfap52	A	G	11: 67,930,744 (GRCm38)	I486T	probably damaging	Het
Col4a3	A	G	1: 82,716,329 (GRCm38)	I1557V	possibly damaging	Het
Col6a5	T	A	9: 105,945,847 (GRCm38)	I104F	unknown	Het
Cry2	A	G	2: 92,412,967 (GRCm38)	S510P	probably benign	Het
Csmd2	G	C	4: 128,546,151 (GRCm38)	A3133P	probably benign	Het
Cyld	G	T	8: 88,732,993 (GRCm38)	A611S	probably damaging	Het
Dennd4c	G	A	4: 86,825,512 (GRCm38)	G1197E	probably damaging	Het
Dnah10	T	C	5: 124,808,729 (GRCm38)	F2969L	probably benign	Het
Dnaic1	A	G	4: 41,625,281 (GRCm38)	K415R	probably benign	Het
Dnmbp	T	A	19: 43,854,171 (GRCm38)	T1253S	probably benign	Het
Dsp	T	C	13: 38,195,702 (GRCm38)	L1542P	possibly damaging	Het
Duox1	T	A	2: 122,340,201 (GRCm38)	L1234Q	probably damaging	Het
Efr3b	T	A	12: 3,968,590 (GRCm38)	R585S	possibly damaging	Het
Gpt	A	G	15: 76,699,352 (GRCm38)		probably null	Het
Heatr6	G	A	11: 83,753,718 (GRCm38)		probably benign	Het
Kcns2	A	G	15: 34,839,784 (GRCm38)	D431G	probably benign	Het
Kdm3b	A	G	18: 34,829,289 (GRCm38)	N1543D	probably damaging	Het
Man2a1	A	G	17: 64,625,380 (GRCm38)	K154R	probably benign	Het
Mical3	G	A	6: 120,958,271 (GRCm38)	Q893*	probably null	Het
Morc3	C	T	16: 93,866,453 (GRCm38)	H515Y	possibly damaging	Het
Mprip	A	T	11: 59,757,721 (GRCm38)	R750S	probably damaging	Het
Mroh1	G	A	15: 76,451,491 (GRCm38)	V1436M	probably benign	Het
Muc5ac	C	T	7: 141,790,669 (GRCm38)	R69*	probably null	Het
Muc5b	A	T	7: 141,856,712 (GRCm38)	Y1274F	unknown	Het
Mybpc1	A	G	10: 88,542,456 (GRCm38)	L674P	probably damaging	Het
Mypn	A	G	10: 63,131,023 (GRCm38)	V958A	probably benign	Het
Nipbl	T	C	15: 8,296,818 (GRCm38)	T2436A	probably benign	Het
Olfr835	A	G	9: 19,035,147 (GRCm38)	D8G	probably benign	Het
Pcdhb5	T	A	18: 37,321,773 (GRCm38)	L402Q	probably damaging	Het
Rp1	A	G	1: 4,348,462 (GRCm38)	L809P	probably benign	Het
Scn3a	T	A	2: 65,494,781 (GRCm38)		probably benign	Het
Sdf2	A	T	11: 78,246,080 (GRCm38)	M29L	probably benign	Het
Serpina3b	T	G	12: 104,134,091 (GRCm38)	L311V	possibly damaging	Het
Snx31	A	T	15: 36,523,488 (GRCm38)	Y349*	probably null	Het
Spidr	A	C	16: 16,114,869 (GRCm38)	C182W	probably damaging	Het
St13	A	T	15: 81,377,798 (GRCm38)	S146R	probably damaging	Het
St8sia4	A	G	1: 95,653,582 (GRCm38)	V145A	probably damaging	Het
Stradb	T	C	1: 58,980,016 (GRCm38)		probably null	Het
Tcp11l2	T	A	10: 84,594,797 (GRCm38)		probably benign	Het
Tfdp2	C	T	9: 96,317,574 (GRCm38)	P74S	unknown	Het
Tmprss15	C	T	16: 79,057,659 (GRCm38)	R287H	probably benign	Het
Trav10d	T	C	14: 52,811,322 (GRCm38)	Y57H	probably damaging	Het
Vmn2r104	A	G	17: 20,029,471 (GRCm38)	I846T	probably benign	Het
Ywhah	T	A	5: 33,026,948 (GRCm38)	M165K	possibly damaging	Het
Zfp324	C	A	7: 12,969,366 (GRCm38)	P72T	probably benign	Het

Other mutations in Pigp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02100:Pigp	APN	16	94,364,767 (GRCm38)	nonsense	probably null
IGL02728:Pigp	APN	16	94,367,607 (GRCm38)	missense	probably damaging	1.00
schweinchen	UTSW	16	94,365,441 (GRCm38)	missense	probably damaging	1.00
R0092:Pigp	UTSW	16	94,365,462 (GRCm38)	missense	probably damaging	0.96
R3614:Pigp	UTSW	16	94,364,724 (GRCm38)	missense	possibly damaging	0.91
R4872:Pigp	UTSW	16	94,365,450 (GRCm38)	missense	probably benign	0.18
R4959:Pigp	UTSW	16	94,359,147 (GRCm38)	missense	probably benign	0.00
R4973:Pigp	UTSW	16	94,359,147 (GRCm38)	missense	probably benign	0.00
R6135:Pigp	UTSW	16	94,370,206 (GRCm38)	missense	probably benign	0.20
R6179:Pigp	UTSW	16	94,370,367 (GRCm38)	missense	probably null	0.99
R6732:Pigp	UTSW	16	94,365,441 (GRCm38)	missense	probably damaging	1.00
R7576:Pigp	UTSW	16	94,370,405 (GRCm38)	missense	probably benign	0.40
R8202:Pigp	UTSW	16	94,364,669 (GRCm38)	missense	probably benign	0.43
R9234:Pigp	UTSW	16	94,364,663 (GRCm38)	makesense	probably null
R9645:Pigp	UTSW	16	94,365,419 (GRCm38)	nonsense	probably null
R9768:Pigp	UTSW	16	94,365,473 (GRCm38)	missense	probably damaging	1.00
Z1177:Pigp	UTSW	16	94,370,695 (GRCm38)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGTACGTTCTAAGGACAAACAC -3'
(R):5'- ATCATGAGAGGGCAGGACTC -3'

Sequencing Primer
(F):5'- GGACAAACACATTATTTCCTGGTTC -3'
(R):5'- TCAGAGGGTCCGAGGTG -3'

Posted On

2017-03-31