Mutagenetix > Incidental Mutation

Incidental Mutation 'R8080:Pigz'

629311

Institutional Source

Beutler Lab

Gene Symbol

Pigz

Ensembl Gene

ENSMUSG00000045625

Gene Name

phosphatidylinositol glycan anchor biosynthesis, class Z

Synonyms

F630022B06Rik

MMRRC Submission

067513-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8080 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31752669-31764864 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31760858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 20 (C20R)

Ref Sequence

ENSEMBL: ENSMUSP00000057509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052174] [ENSMUST00000134666] [ENSMUST00000134928] [ENSMUST00000151412]

AlphaFold

Q8BTP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000052174
AA Change: C20R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057509
Gene: ENSMUSG00000045625
AA Change: C20R

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_22	7	446	1.3e-59	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134666
AA Change: C20R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134928
AA Change: C20R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000151412
AA Change: C20R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 94.9%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aloxe3	A	G	11: 69,023,900 (GRCm39)	Q277R	probably damaging	Het
Anapc5	T	C	5: 122,945,401 (GRCm39)	N226D	probably damaging	Het
Arb2a	T	A	13: 78,154,565 (GRCm39)	L316Q	probably damaging	Het
Bcl2l11	T	C	2: 127,970,586 (GRCm39)	C12R	probably damaging	Het
Bpnt1	A	G	1: 185,084,406 (GRCm39)	T168A	probably damaging	Het
Brca2	A	T	5: 150,463,357 (GRCm39)	E1040D	probably benign	Het
Cdca2	G	A	14: 67,915,004 (GRCm39)	Q752*	probably null	Het
Cntn2	T	C	1: 132,449,536 (GRCm39)	D635G	probably damaging	Het
Cntnap5b	A	T	1: 99,999,928 (GRCm39)	I229F	probably benign	Het
Ctr9	G	A	7: 110,650,774 (GRCm39)	E900K	possibly damaging	Het
Dmbt1	A	G	7: 130,690,500 (GRCm39)	Y911C	unknown	Het
Egflam	T	A	15: 7,427,561 (GRCm39)	D2V	probably benign	Het
Enpep	A	T	3: 129,092,783 (GRCm39)	N505K	probably damaging	Het
Fam13a	A	G	6: 58,933,790 (GRCm39)	S267P	probably damaging	Het
Fancc	G	T	13: 63,550,837 (GRCm39)	T12K		Het
Fbxo3	A	G	2: 103,864,012 (GRCm39)	Y89C	probably damaging	Het
Garem2	A	G	5: 30,313,385 (GRCm39)	Y83C	probably damaging	Het
Gm17079	T	C	14: 51,930,480 (GRCm39)	T122A		Het
Gm3696	A	T	14: 18,435,071 (GRCm39)	L71*	probably null	Het
Gm4559	C	T	7: 141,827,553 (GRCm39)	R183K	unknown	Het
Gmip	A	T	8: 70,268,736 (GRCm39)	T454S	possibly damaging	Het
Helz2	T	A	2: 180,880,055 (GRCm39)	T554S	probably damaging	Het
Hoxc9	C	T	15: 102,890,551 (GRCm39)	T156M	probably benign	Het
Hrc	A	G	7: 44,986,262 (GRCm39)	E471G	probably damaging	Het
Hydin	A	G	8: 111,261,863 (GRCm39)	I2655V	probably benign	Het
Ighv1-64	T	C	12: 115,471,463 (GRCm39)	H18R	probably benign	Het
Jcad	A	G	18: 4,649,270 (GRCm39)	Y47C	probably benign	Het
Jmjd4	A	G	11: 59,341,179 (GRCm39)	T37A	probably benign	Het
Kalrn	C	T	16: 33,796,038 (GRCm39)	G2915S	possibly damaging	Het
Kdm5d	T	C	Y: 910,742 (GRCm39)	F285L	probably benign	Het
Lmna	A	G	3: 88,393,868 (GRCm39)	F237L	probably damaging	Het
Med12l	A	G	3: 59,172,607 (GRCm39)	K1788E	probably damaging	Het
Mrgprb1	T	C	7: 48,096,658 (GRCm39)		probably null	Het
Myh1	T	A	11: 67,102,228 (GRCm39)	Y840N	probably benign	Het
Negr1	C	A	3: 156,866,357 (GRCm39)	A302E	probably damaging	Het
Nup188	T	C	2: 30,227,045 (GRCm39)	V1206A	possibly damaging	Het
Nup205	T	C	6: 35,204,311 (GRCm39)	L1399P	probably damaging	Het
Or13a20	T	C	7: 140,232,387 (GRCm39)	M165T	probably benign	Het
Or4a81	T	A	2: 89,618,971 (GRCm39)	I242F	possibly damaging	Het
Or5v1b	G	A	17: 37,841,555 (GRCm39)	R229H	probably benign	Het
Or6c69b	T	C	10: 129,626,997 (GRCm39)	I154V	probably benign	Het
Or8c14-ps1	T	C	9: 38,101,885 (GRCm39)	L288S	unknown	Het
Pcdhb4	A	G	18: 37,442,349 (GRCm39)	D553G	probably benign	Het
Phip	A	G	9: 82,769,662 (GRCm39)	L1147P	probably damaging	Het
Phlpp1	A	G	1: 106,320,706 (GRCm39)	D1567G	probably benign	Het
Plpp1	A	G	13: 113,004,002 (GRCm39)	K252R	probably benign	Het
Polr2a	A	T	11: 69,625,874 (GRCm39)	S1759T	unknown	Het
Rbm42	G	T	7: 30,345,136 (GRCm39)	P212T	unknown	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Slc9a3	A	C	13: 74,314,146 (GRCm39)	Q818P	probably benign	Het
St3gal4	T	C	9: 35,017,617 (GRCm39)		probably null	Het
Stard3nl	G	T	13: 19,554,521 (GRCm39)	A151E	probably damaging	Het
Syt9	T	A	7: 107,035,997 (GRCm39)	I338N	probably benign	Het
Ticrr	A	T	7: 79,334,012 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,713 (GRCm39)	Y169N	probably damaging	Het
Tnc	A	C	4: 63,894,706 (GRCm39)	I1560S	possibly damaging	Het
Usp7	C	A	16: 8,515,771 (GRCm39)	D644Y	probably benign	Het
Utp20	A	G	10: 88,618,577 (GRCm39)	I1141T	possibly damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r60	A	G	7: 41,790,521 (GRCm39)	M503V	probably benign	Het
Zfp384	T	C	6: 125,013,521 (GRCm39)	S530P	unknown	Het
Zfp600	T	A	4: 146,133,182 (GRCm39)	C617S	unknown	Het
Zfp819	A	G	7: 43,267,148 (GRCm39)	R544G	probably damaging	Het

Other mutations in Pigz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02697:Pigz	APN	16	31,763,577 (GRCm39)	splice site	probably null
IGL02963:Pigz	APN	16	31,763,353 (GRCm39)	missense	probably damaging	0.99
lust	UTSW	16	31,763,755 (GRCm39)	missense	probably damaging	1.00
R0884:Pigz	UTSW	16	31,760,794 (GRCm39)	splice site	probably null
R1252:Pigz	UTSW	16	31,760,808 (GRCm39)	missense	possibly damaging	0.49
R1776:Pigz	UTSW	16	31,763,397 (GRCm39)	missense	probably damaging	0.99
R4744:Pigz	UTSW	16	31,764,151 (GRCm39)	missense	probably damaging	1.00
R5480:Pigz	UTSW	16	31,763,439 (GRCm39)	missense	probably damaging	0.97
R5793:Pigz	UTSW	16	31,764,285 (GRCm39)	missense	probably benign	0.00
R5905:Pigz	UTSW	16	31,764,246 (GRCm39)	missense	probably benign	0.26
R6025:Pigz	UTSW	16	31,764,528 (GRCm39)	missense	probably damaging	1.00
R6251:Pigz	UTSW	16	31,764,424 (GRCm39)	missense	possibly damaging	0.94
R6297:Pigz	UTSW	16	31,763,755 (GRCm39)	missense	probably damaging	1.00
R6735:Pigz	UTSW	16	31,764,361 (GRCm39)	missense	probably benign	0.01
R6770:Pigz	UTSW	16	31,764,568 (GRCm39)	missense	probably damaging	1.00
R6855:Pigz	UTSW	16	31,764,036 (GRCm39)	missense	possibly damaging	0.85
R7541:Pigz	UTSW	16	31,763,949 (GRCm39)	missense	probably benign	0.00
R9336:Pigz	UTSW	16	31,763,694 (GRCm39)	missense	probably damaging	1.00
R9402:Pigz	UTSW	16	31,764,187 (GRCm39)	missense	probably damaging	1.00
R9756:Pigz	UTSW	16	31,763,787 (GRCm39)	missense	probably damaging	1.00
Z1177:Pigz	UTSW	16	31,763,343 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGACAGGTTGCAGTATAGTCTG -3'
(R):5'- ATGGAAAGGGCTGGCATTTC -3'

Sequencing Primer
(F):5'- CAGACTTTCCAGTCCTGT -3'
(R):5'- TTCAAAGTCTAATCCCAGAGAGGCTG -3'

Posted On

2020-06-30