Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02751:Pygo1'

306299

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pygo1

Ensembl Gene

ENSMUSG00000034910

Gene Name

pygopus 1

Synonyms

2600014C22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02751

Quality Score

Status

Chromosome

Chromosomal Location

72832927-72859463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72852319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 169 (I169F)

Ref Sequence

ENSEMBL: ENSMUSP00000044368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038489]

AlphaFold

Q9D0P5

PDB Structure

Crystal Structure Analysis of the PHD domain of the Transcription Coactivator Pygophus [X-RAY DIFFRACTION]
Structural analysis of PHD domain of Pygopus complexed with trimethylated histone H3 peptide [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000038489
AA Change: I169F

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000044368
Gene: ENSMUSG00000034910
AA Change: I169F

Domain	Start	End	E-Value	Type
low complexity region	17	27	N/A	INTRINSIC
Blast:HECTc	28	125	6e-28	BLAST
PHD	340	394	5.57e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are viable and show no obvious phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1a	A	T	14: 66,964,981 (GRCm39)	I324F	possibly damaging	Het
Ago2	G	A	15: 73,002,746 (GRCm39)	A162V	possibly damaging	Het
Aox4	G	T	1: 58,298,211 (GRCm39)	R1059I	probably damaging	Het
AU021092	C	A	16: 5,030,483 (GRCm39)	V304L	probably damaging	Het
Bcs1l	T	G	1: 74,628,775 (GRCm39)	F20V	probably damaging	Het
Braf	T	C	6: 39,637,801 (GRCm39)		probably benign	Het
Cacna1a	T	C	8: 85,296,581 (GRCm39)	C1200R	probably damaging	Het
Ccdc116	T	A	16: 16,959,836 (GRCm39)	R284S	probably benign	Het
Cntnap5a	T	G	1: 116,112,187 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,521,141 (GRCm39)		probably benign	Het
Cpa4	T	A	6: 30,581,739 (GRCm39)	Y229N	probably damaging	Het
Fbp1	A	C	13: 63,022,957 (GRCm39)		probably null	Het
Gimap3	A	T	6: 48,742,172 (GRCm39)	W253R	probably benign	Het
Gm1330	G	A	2: 148,832,393 (GRCm39)		probably benign	Het
Gm4841	A	G	18: 60,404,093 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,814,482 (GRCm39)	T338A	probably benign	Het
Hmg20b	A	T	10: 81,182,385 (GRCm39)		probably benign	Het
Hnrnpdl	A	G	5: 100,185,833 (GRCm39)	F151L	probably damaging	Het
Klhl30	T	A	1: 91,281,821 (GRCm39)	F141I	probably damaging	Het
Lamc3	T	A	2: 31,810,716 (GRCm39)	F862Y	probably benign	Het
Lap3	T	C	5: 45,662,138 (GRCm39)	C313R	probably damaging	Het
Lrp2	T	C	2: 69,363,806 (GRCm39)	T344A	possibly damaging	Het
Mga	A	G	2: 119,778,251 (GRCm39)	E2023G	possibly damaging	Het
Mical2	A	T	7: 111,931,243 (GRCm39)	K735N	probably benign	Het
Muc15	A	G	2: 110,562,118 (GRCm39)	T185A	probably benign	Het
Or12d17	T	C	17: 37,777,306 (GRCm39)	C70R	probably damaging	Het
Osbp2	T	C	11: 3,813,434 (GRCm39)	K145R	probably benign	Het
Pde1c	T	C	6: 56,158,673 (GRCm39)	T52A	probably damaging	Het
Pidd1	A	G	7: 141,019,076 (GRCm39)	S802P	possibly damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Prep	T	A	10: 44,991,282 (GRCm39)	I316N	probably damaging	Het
Prl3d2	G	A	13: 27,310,014 (GRCm39)		probably null	Het
Rnf10	G	T	5: 115,380,725 (GRCm39)	A716E	probably benign	Het
Rtn4	G	A	11: 29,656,409 (GRCm39)		probably null	Het
Ryr1	A	T	7: 28,778,199 (GRCm39)	V2099E	probably damaging	Het
Slc48a1	G	A	15: 97,687,961 (GRCm39)		probably benign	Het
Spag17	T	A	3: 99,918,110 (GRCm39)	Y364*	probably null	Het
Syt3	A	T	7: 44,035,486 (GRCm39)	D31V	possibly damaging	Het
Tango2	G	T	16: 18,125,857 (GRCm39)	P143H	probably benign	Het
Tas2r104	A	G	6: 131,662,107 (GRCm39)	S201P	probably damaging	Het
Tas2r107	G	A	6: 131,636,447 (GRCm39)	L201F	probably damaging	Het
Vmn1r81	A	T	7: 11,994,374 (GRCm39)	L78Q	probably damaging	Het
Vmn2r18	T	A	5: 151,508,072 (GRCm39)	T351S	probably benign	Het

Other mutations in Pygo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Pygo1	APN	9	72,852,570 (GRCm39)	missense	probably damaging	1.00
IGL02033:Pygo1	APN	9	72,852,683 (GRCm39)	missense	possibly damaging	0.59
IGL02445:Pygo1	APN	9	72,833,222 (GRCm39)	missense	probably benign	0.12
IGL02938:Pygo1	APN	9	72,852,020 (GRCm39)	missense	probably damaging	1.00
R1809:Pygo1	UTSW	9	72,852,078 (GRCm39)	missense	probably damaging	1.00
R2190:Pygo1	UTSW	9	72,852,529 (GRCm39)	nonsense	probably null
R5037:Pygo1	UTSW	9	72,852,199 (GRCm39)	missense	probably damaging	0.98
R5523:Pygo1	UTSW	9	72,852,266 (GRCm39)	missense	possibly damaging	0.68
R5539:Pygo1	UTSW	9	72,852,061 (GRCm39)	missense	probably damaging	1.00
R6163:Pygo1	UTSW	9	72,851,980 (GRCm39)	missense	probably damaging	1.00
R6340:Pygo1	UTSW	9	72,852,711 (GRCm39)	missense	probably damaging	1.00
R6803:Pygo1	UTSW	9	72,850,267 (GRCm39)	missense	probably damaging	1.00
R7716:Pygo1	UTSW	9	72,850,208 (GRCm39)	missense	probably damaging	1.00
R8137:Pygo1	UTSW	9	72,852,140 (GRCm39)	missense	probably damaging	1.00
R8419:Pygo1	UTSW	9	72,852,380 (GRCm39)	missense	probably damaging	1.00
R8774:Pygo1	UTSW	9	72,852,436 (GRCm39)	missense	possibly damaging	0.76
R8774-TAIL:Pygo1	UTSW	9	72,852,436 (GRCm39)	missense	possibly damaging	0.76
R9140:Pygo1	UTSW	9	72,852,988 (GRCm39)	missense	probably benign	0.01
R9153:Pygo1	UTSW	9	72,852,143 (GRCm39)	missense	possibly damaging	0.93
R9456:Pygo1	UTSW	9	72,833,056 (GRCm39)	start gained	probably benign

Posted On

2015-04-16