Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01998:Pigx'

182971

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pigx

Ensembl Gene

ENSMUSG00000023791

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class X

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

32084416-32099740 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32084610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 211 (T211K)

Ref Sequence

ENSEMBL: ENSMUSP00000141122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096109] [ENSMUST00000133584] [ENSMUST00000136643] [ENSMUST00000147003] [ENSMUST00000147688] [ENSMUST00000155966] [ENSMUST00000189013] [ENSMUST00000215073] [ENSMUST00000232321]

AlphaFold

Q99LV7

Predicted Effect

probably benign
Transcript: ENSMUST00000096109
AA Change: T213K

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000093819
Gene: ENSMUSG00000023791
AA Change: T213K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PIG-X	49	249	3.24e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133584

SMART Domains

Protein: ENSMUSP00000119754
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136643

SMART Domains

Protein: ENSMUSP00000118256
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143011

Predicted Effect

probably benign
Transcript: ENSMUST00000147003

SMART Domains

Protein: ENSMUSP00000120272
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
transmembrane domain	37	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147688

SMART Domains

Protein: ENSMUSP00000121801
Gene: ENSMUSG00000023791

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PIG-X	49	105	1.6e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151250

Predicted Effect

probably benign
Transcript: ENSMUST00000155966
AA Change: T211K

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114854
Gene: ENSMUSG00000023791
AA Change: T211K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PIG-X	47	247	3.24e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189013
AA Change: T211K

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141122
Gene: ENSMUSG00000023791
AA Change: T211K

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PIG-X	47	247	3.24e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000215073
AA Change: T213K

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000232321
AA Change: T109K

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110043O21Rik	A	T	4: 35,194,179	D205E	probably benign	Het
4930435E12Rik	A	T	16: 38,828,224	D174E	probably benign	Het
4932438A13Rik	T	C	3: 36,957,016	S1788P	possibly damaging	Het
Arpc3	T	C	5: 122,403,407	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,886,066		probably null	Het
B3gnt8	A	G	7: 25,628,778	Y211C	probably damaging	Het
Birc6	T	C	17: 74,579,885	I736T	probably benign	Het
Bpifb9a	T	C	2: 154,268,200		probably null	Het
C3ar1	A	T	6: 122,850,940	M106K	probably damaging	Het
Cab39l	T	A	14: 59,496,895	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043	I166F	probably damaging	Het
Cd180	A	G	13: 102,705,214	E256G	probably damaging	Het
Clca4a	T	C	3: 144,958,126	T519A	probably damaging	Het
Clstn3	A	T	6: 124,458,663	L233Q	probably damaging	Het
Crlf3	G	A	11: 80,058,019		probably benign	Het
Depdc5	T	C	5: 32,945,151		probably benign	Het
Drc7	T	A	8: 95,059,193	C226S	probably damaging	Het
Epha5	T	A	5: 84,084,734	D807V	probably damaging	Het
Fat2	A	G	11: 55,296,195	L1275P	probably benign	Het
Fv1	T	C	4: 147,869,327	C117R	possibly damaging	Het
Ighg2b	C	A	12: 113,307,089	M140I	unknown	Het
Klra5	A	T	6: 129,906,713	Y60*	probably null	Het
Lmtk2	C	T	5: 144,176,065	T1201I	probably damaging	Het
Ncapd2	A	T	6: 125,169,933	L1230H	probably damaging	Het
Ncapd2	A	T	6: 125,173,115	S917T	probably benign	Het
Nfx1	T	A	4: 41,004,353	I708N	probably damaging	Het
Notch2	A	T	3: 98,143,106	D1899V	probably damaging	Het
Npepl1	T	A	2: 174,116,200		probably benign	Het
Nps	T	A	7: 135,268,752		probably benign	Het
Nrg1	T	C	8: 31,918,134	S24G	probably damaging	Het
Olfr330	A	T	11: 58,529,577	Y136*	probably null	Het
Olfr352	A	G	2: 36,869,646	N27D	probably benign	Het
Olfr698	G	A	7: 106,752,551	T279M	possibly damaging	Het
Olfr730	C	A	14: 50,186,648	V190L	probably benign	Het
Pink1	A	G	4: 138,320,742	I223T	probably damaging	Het
Plat	G	A	8: 22,767,147	A15T	probably benign	Het
Ptges2	G	A	2: 32,401,530	A310T	possibly damaging	Het
Rsl1d1	A	G	16: 11,194,645	S306P	possibly damaging	Het
Rxfp1	T	C	3: 79,660,096	K316E	probably benign	Het
Scn10a	A	G	9: 119,609,676	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,838,532	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,666,929	D170G	probably benign	Het
Spock1	A	T	13: 57,436,181		probably benign	Het
Strbp	A	G	2: 37,625,285	L243P	probably damaging	Het
Tgm5	T	A	2: 121,052,439	T446S	probably damaging	Het
Tmem59l	C	T	8: 70,484,781	V239I	probably benign	Het
Trav8-1	A	T	14: 53,470,205	T101S	probably benign	Het
Triml1	T	C	8: 43,141,313	D27G	probably damaging	Het
Vmn2r54	T	C	7: 12,615,300	E785G	probably benign	Het
Vps13c	A	G	9: 67,955,068		probably null	Het
Wwp2	C	T	8: 107,549,521	R64C	probably damaging	Het
Zfp608	T	C	18: 54,891,818	H1460R	probably damaging	Het

Other mutations in Pigx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02662:Pigx	APN	16	32087383	missense	probably damaging	0.99
F5770:Pigx	UTSW	16	32087422	missense	probably damaging	1.00
R1682:Pigx	UTSW	16	32087450	missense	possibly damaging	0.91
R6195:Pigx	UTSW	16	32084586	missense	probably damaging	0.99
R6379:Pigx	UTSW	16	32084523	missense	probably damaging	1.00
R6521:Pigx	UTSW	16	32087311	missense	probably damaging	1.00
R9437:Pigx	UTSW	16	32099492	missense	probably benign	0.05
V7580:Pigx	UTSW	16	32087422	missense	probably damaging	1.00
V7583:Pigx	UTSW	16	32087422	missense	probably damaging	1.00
Z1176:Pigx	UTSW	16	32087425	missense	probably benign	0.00

Posted On

2014-05-07