Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Pggt1b'

2062

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pggt1b

Ensembl Gene

ENSMUSG00000024477

Gene Name

protein geranylgeranyltransferase type I, beta subunit

Synonyms

BGG1, GGT1, 2010207C17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

46368418-46414060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 46413786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 34 (Q34P)

Ref Sequence

ENSEMBL: ENSMUSP00000025354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025354] [ENSMUST00000072835]

AlphaFold

Q8BUY9

Predicted Effect

probably benign
Transcript: ENSMUST00000025354
AA Change: Q34P

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000025354
Gene: ENSMUSG00000024477
AA Change: Q34P

Domain	Start	End	E-Value	Type
Pfam:Prenyltrans	142	186	8.6e-10	PFAM
Pfam:Prenyltrans	191	234	2.2e-10	PFAM
Pfam:Prenyltrans	240	284	4.8e-10	PFAM
Pfam:Prenyltrans	289	333	4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072835

SMART Domains

Protein: ENSMUSP00000072614
Gene: ENSMUSG00000071855

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
coiled coil region	111	199	N/A	INTRINSIC
coiled coil region	300	332	N/A	INTRINSIC
low complexity region	345	355	N/A	INTRINSIC
coiled coil region	362	483	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino acid and 'X' is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010]
PHENOTYPE: Homozygous inactivation of this gene blocks proliferation of primary mouse fibroblasts, disrupts the actin cytoskeleton, and results in altered cell morphology and reduced cell migration in a standard wound healing assay. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,964,603 (GRCm39)	T929A	probably damaging	Het
Adam6b	G	A	12: 113,455,013 (GRCm39)	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,685 (GRCm39)	M1314K	probably benign	Het
Alg6	T	A	4: 99,641,291 (GRCm39)	F152I	probably damaging	Het
Aopep	A	G	13: 63,347,314 (GRCm39)		probably benign	Het
Arid5b	A	G	10: 67,964,805 (GRCm39)	S289P	probably damaging	Het
Axin1	T	C	17: 26,413,046 (GRCm39)	F780L	probably damaging	Het
C9	C	T	15: 6,512,712 (GRCm39)	S278L	possibly damaging	Het
Calr4	A	T	4: 109,101,312 (GRCm39)	I65F	probably damaging	Het
Cdh23	A	G	10: 60,359,327 (GRCm39)	V260A	probably benign	Het
Ddx25	T	C	9: 35,454,891 (GRCm39)		probably benign	Het
Dppa4	A	G	16: 48,111,446 (GRCm39)	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,203,058 (GRCm39)	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,895,334 (GRCm39)		probably null	Het
Fam149a	A	G	8: 45,804,823 (GRCm39)	V253A	probably damaging	Het
Fam209	C	T	2: 172,316,102 (GRCm39)	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,912,996 (GRCm39)	N265I	probably damaging	Het
Glud1	T	C	14: 34,058,087 (GRCm39)	V366A	probably benign	Het
Hdac10	T	C	15: 89,012,645 (GRCm39)	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,286,670 (GRCm39)	S54P	probably damaging	Het
Itpr2	T	C	6: 146,045,683 (GRCm39)	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,281,879 (GRCm39)	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,760,214 (GRCm39)	S1015T	unknown	Het
Lactb2	A	G	1: 13,730,598 (GRCm39)	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,358,362 (GRCm39)	D111V	probably damaging	Het
Lig4	T	C	8: 10,022,775 (GRCm39)	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,285,921 (GRCm39)	D715E	probably benign	Het
Med6	A	T	12: 81,626,348 (GRCm39)	V142D	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mettl13	A	G	1: 162,363,434 (GRCm39)	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,228,461 (GRCm39)	C1314*	probably null	Het
Nbeal2	A	G	9: 110,464,937 (GRCm39)	V1009A	probably damaging	Het
Nmur2	A	G	11: 55,931,603 (GRCm39)	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474 (GRCm39)	L119Q	probably damaging	Het
Or5b117	T	C	19: 13,431,204 (GRCm39)	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,300,048 (GRCm39)	E519K	probably damaging	Het
Pak6	A	T	2: 118,520,326 (GRCm39)	T106S	possibly damaging	Het
Phactr4	T	C	4: 132,098,303 (GRCm39)	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,632,436 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,104,217 (GRCm39)		probably null	Het
Pramel32	A	G	4: 88,547,290 (GRCm39)	I214T	probably damaging	Het
Prr14l	T	C	5: 32,988,020 (GRCm39)	I492V	probably benign	Het
Ranbp2	C	A	10: 58,313,078 (GRCm39)	A1266E	probably damaging	Het
Riok3	G	A	18: 12,270,077 (GRCm39)	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,790,339 (GRCm39)	E643K	probably damaging	Het
Scara3	T	G	14: 66,170,570 (GRCm39)	E103A	probably benign	Het
Sgk3	T	C	1: 9,938,609 (GRCm39)	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,897,375 (GRCm39)	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571 (GRCm39)	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,806,897 (GRCm39)	Y728C	probably benign	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Spidr	A	T	16: 15,713,442 (GRCm39)	L847Q	probably damaging	Het
Sptb	A	G	12: 76,667,527 (GRCm39)	S857P	probably benign	Het
Syde1	A	G	10: 78,421,643 (GRCm39)	V636A	probably damaging	Het
Syna	A	G	5: 134,588,571 (GRCm39)	L126P	possibly damaging	Het
Taar2	A	G	10: 23,817,266 (GRCm39)	T269A	possibly damaging	Het
Tapbp	C	T	17: 34,144,678 (GRCm39)	T258I	probably damaging	Het
Tcf20	T	A	15: 82,741,343 (GRCm39)	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,849,807 (GRCm39)	M260K	probably damaging	Het
Tnc	T	A	4: 63,935,061 (GRCm39)		probably benign	Het
Ugp2	T	A	11: 21,304,345 (GRCm39)	E27D	probably benign	Het
Vps35l	T	A	7: 118,403,414 (GRCm39)		probably benign	Het
Wdr27	A	T	17: 15,148,572 (GRCm39)	C140*	probably null	Het
Wnt2b	T	C	3: 104,860,449 (GRCm39)	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,343,719 (GRCm39)	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,157,238 (GRCm39)	G48C	probably damaging	Het
Zfp474	A	T	18: 52,771,565 (GRCm39)	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,527,988 (GRCm39)	F224L	probably benign	Het

Other mutations in Pggt1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02012:Pggt1b	APN	18	46,396,022 (GRCm39)	missense	probably benign
P0035:Pggt1b	UTSW	18	46,392,787 (GRCm39)	missense	probably damaging	1.00
R0140:Pggt1b	UTSW	18	46,391,150 (GRCm39)	critical splice donor site	probably null
R0448:Pggt1b	UTSW	18	46,396,039 (GRCm39)	splice site	probably benign
R2097:Pggt1b	UTSW	18	46,379,695 (GRCm39)	missense	probably benign
R4010:Pggt1b	UTSW	18	46,382,003 (GRCm39)	missense	possibly damaging	0.93
R4839:Pggt1b	UTSW	18	46,391,166 (GRCm39)	missense	possibly damaging	0.50
R5947:Pggt1b	UTSW	18	46,382,007 (GRCm39)	missense	probably benign	0.25
R6225:Pggt1b	UTSW	18	46,407,674 (GRCm39)	missense	possibly damaging	0.48
R9781:Pggt1b	UTSW	18	46,392,779 (GRCm39)	missense	probably damaging	0.96

Posted On

2011-12-09