Mutagenetix > Incidental Mutation

Incidental Mutation 'R6135:Pigp'

488319

Institutional Source

Beutler Lab

Gene Symbol

Pigp

Ensembl Gene

ENSMUSG00000022940

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class P

Synonyms

Dcrc, Dscr5

MMRRC Submission

044282-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.712) question?

Stock #

R6135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94159622-94171874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94171065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 22 (F22L)

Ref Sequence

ENSEMBL: ENSMUSP00000114477 (fasta)

Gene Model

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

AlphaFold

Q9JHG1

Predicted Effect

probably benign
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 benign
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 benign
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 benign
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 benign
Transcript: ENSMUST00000113917
AA Change: F22L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109550
Gene: ENSMUSG00000022940
AA Change: F22L

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: ENSMUST00000138514
AA Change: F22L

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114477
Gene: ENSMUSG00000022940
AA Change: F22L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127911

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130960

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

probably benign
Transcript: ENSMUST00000145432

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: 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: 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: 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: 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

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: ENSMUST00000143145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151192

Predicted Effect

probably benign
Transcript: ENSMUST00000154243

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: ENSMUST00000153062

Predicted Effect

probably benign
Transcript: ENSMUST00000232294

Predicted Effect

probably benign
Transcript: ENSMUST00000231569

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: 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: 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: 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: 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 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

Meta Mutation Damage Score

0.0839

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,402,335 (GRCm39)	E95G	probably damaging	Het
Abca4	C	T	3: 121,932,096 (GRCm39)	T250I	possibly damaging	Het
Ahi1	G	A	10: 20,845,020 (GRCm39)	R375H	probably benign	Het
Aimp1	T	C	3: 132,377,844 (GRCm39)	K174E	probably benign	Het
Aire	A	G	10: 77,878,801 (GRCm39)	L82P	probably damaging	Het
Akap13	T	A	7: 75,259,656 (GRCm39)	V760D	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Carf	C	T	1: 60,187,122 (GRCm39)	S540F	probably damaging	Het
Ccdc171	T	A	4: 83,473,087 (GRCm39)	M172K	probably benign	Het
Chpt1	A	T	10: 88,318,145 (GRCm39)	V199E	possibly damaging	Het
Cldn16	G	A	16: 26,293,018 (GRCm39)	D65N	possibly damaging	Het
Cnga3	G	A	1: 37,271,318 (GRCm39)		probably benign	Het
Col14a1	A	G	15: 55,244,246 (GRCm39)	T440A	unknown	Het
Creb3l3	A	G	10: 80,921,552 (GRCm39)	I331T	probably benign	Het
Cul9	T	C	17: 46,832,379 (GRCm39)	T1410A	probably benign	Het
Dnm1	T	A	2: 32,223,075 (GRCm39)		probably null	Het
Fhl5	A	T	4: 25,214,716 (GRCm39)	Y20*	probably null	Het
Fignl1	T	C	11: 11,752,557 (GRCm39)	D166G	probably benign	Het
Ghr	T	C	15: 3,355,447 (GRCm39)	I279V	probably benign	Het
Gm1979	T	G	5: 26,205,298 (GRCm39)	S180R	probably damaging	Het
Hydin	T	C	8: 111,189,292 (GRCm39)	V1232A	possibly damaging	Het
Ifnar1	A	G	16: 91,298,508 (GRCm39)		probably null	Het
Inpp5d	A	G	1: 87,548,119 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnh2	T	A	5: 24,526,791 (GRCm39)	S1002C	probably damaging	Het
Krt87	T	A	15: 101,385,415 (GRCm39)	E319V	probably damaging	Het
Lbp	A	G	2: 158,159,469 (GRCm39)	I201V	probably benign	Het
Man1a2	G	A	3: 100,592,248 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,188,326 (GRCm39)	T996A	possibly damaging	Het
Nat10	A	G	2: 103,573,661 (GRCm39)	L319P	probably damaging	Het
Nelfa	A	G	5: 34,056,620 (GRCm39)		probably null	Het
Or5b97	A	C	19: 12,878,803 (GRCm39)	Y114D	probably damaging	Het
Pcdha11	T	A	18: 37,138,870 (GRCm39)	N166K	probably damaging	Het
Pcdha6	C	A	18: 37,102,269 (GRCm39)	N487K	probably damaging	Het
Pcsk2	A	G	2: 143,415,460 (GRCm39)	D91G	possibly damaging	Het
Pnpla8	A	C	12: 44,329,670 (GRCm39)	N74T	probably benign	Het
Ppargc1b	T	C	18: 61,448,980 (GRCm39)	K114R	probably damaging	Het
Ppfia2	A	G	10: 106,693,430 (GRCm39)	D645G	probably damaging	Het
Rnf213	G	A	11: 119,332,854 (GRCm39)	V2688I	probably benign	Het
Rnf43	A	G	11: 87,622,951 (GRCm39)	H557R	probably damaging	Het
Rp1l1	C	T	14: 64,267,545 (GRCm39)	P1044S	probably damaging	Het
Rrp9	G	A	9: 106,360,221 (GRCm39)	D210N	probably damaging	Het
Scin	G	T	12: 40,129,807 (GRCm39)	Q329K	possibly damaging	Het
Scn7a	T	A	2: 66,534,244 (GRCm39)	H477L	probably benign	Het
Slc26a8	A	T	17: 28,888,914 (GRCm39)	M195K	probably benign	Het
Spata13	A	G	14: 60,993,877 (GRCm39)	K1110E	probably damaging	Het
Spata24	T	A	18: 35,793,503 (GRCm39)	E103V	probably damaging	Het
Srek1	T	C	13: 103,910,894 (GRCm39)	N25S	probably damaging	Het
Strada	T	C	11: 106,064,140 (GRCm39)	Y59C	probably damaging	Het
Tnrc6c	T	C	11: 117,626,831 (GRCm39)	W1143R	probably damaging	Het
Trip12	A	T	1: 84,738,559 (GRCm39)	D765E	probably benign	Het
Ttbk2	G	A	2: 120,580,798 (GRCm39)	R444C	probably damaging	Het
Ush2a	T	A	1: 188,644,303 (GRCm39)	I4555N	possibly damaging	Het
Vcan	C	T	13: 89,838,045 (GRCm39)	E2500K	probably benign	Het
Vps16	A	G	2: 130,280,573 (GRCm39)	Y200C	possibly damaging	Het
Wdfy4	T	A	14: 32,693,668 (GRCm39)	H2719L	probably damaging	Het
Zfhx2	T	C	14: 55,311,653 (GRCm39)	D347G	possibly damaging	Het
Zfp653	G	A	9: 21,969,558 (GRCm39)	T236I	probably damaging	Het
Zscan4-ps1	A	T	7: 10,799,913 (GRCm39)	H325Q	probably benign	Het

Other mutations in Pigp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02100:Pigp	APN	16	94,165,626 (GRCm39)	nonsense	probably null
IGL02728:Pigp	APN	16	94,168,466 (GRCm39)	missense	probably damaging	1.00
schweinchen	UTSW	16	94,166,300 (GRCm39)	missense	probably damaging	1.00
R0092:Pigp	UTSW	16	94,166,321 (GRCm39)	missense	probably damaging	0.96
R3614:Pigp	UTSW	16	94,165,583 (GRCm39)	missense	possibly damaging	0.91
R4872:Pigp	UTSW	16	94,166,309 (GRCm39)	missense	probably benign	0.18
R4959:Pigp	UTSW	16	94,160,006 (GRCm39)	missense	probably benign	0.00
R4973:Pigp	UTSW	16	94,160,006 (GRCm39)	missense	probably benign	0.00
R5970:Pigp	UTSW	16	94,171,053 (GRCm39)	critical splice acceptor site	probably null
R6179:Pigp	UTSW	16	94,171,226 (GRCm39)	missense	probably null	0.99
R6732:Pigp	UTSW	16	94,166,300 (GRCm39)	missense	probably damaging	1.00
R7576:Pigp	UTSW	16	94,171,264 (GRCm39)	missense	probably benign	0.40
R8202:Pigp	UTSW	16	94,165,528 (GRCm39)	missense	probably benign	0.43
R9234:Pigp	UTSW	16	94,165,522 (GRCm39)	makesense	probably null
R9645:Pigp	UTSW	16	94,166,278 (GRCm39)	nonsense	probably null
R9768:Pigp	UTSW	16	94,166,332 (GRCm39)	missense	probably damaging	1.00
Z1177:Pigp	UTSW	16	94,171,554 (GRCm39)	intron	probably benign

Predicted Primers

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

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

Posted On

2017-10-10