Mutagenetix > Incidental Mutation

Incidental Mutation 'R5037:Pygo1'

389582

Institutional Source

Beutler Lab

Gene Symbol

Pygo1

Ensembl Gene

ENSMUSG00000034910

Gene Name

pygopus 1

Synonyms

2600014C22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5037 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72832927-72859463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 72852199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 129 (H129N)

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 damaging
Transcript: ENSMUST00000038489
AA Change: H129N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044368
Gene: ENSMUSG00000034910
AA Change: H129N

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

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btaf1	T	C	19: 36,980,931 (GRCm39)	V1584A	probably damaging	Het
Ccdc136	A	T	6: 29,417,122 (GRCm39)	S648C	probably damaging	Het
Ccna2	A	G	3: 36,625,152 (GRCm39)		probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cenpf	T	C	1: 189,416,043 (GRCm39)	E94G	probably damaging	Het
Clic1	G	A	17: 35,274,235 (GRCm39)	V139I	probably benign	Het
Coasy	A	G	11: 100,975,648 (GRCm39)	E327G	probably damaging	Het
Col6a5	C	T	9: 105,805,337 (GRCm39)	E1190K	unknown	Het
Cyp2c70	A	G	19: 40,172,441 (GRCm39)	V67A	possibly damaging	Het
Dglucy	A	G	12: 100,801,500 (GRCm39)	S52G	probably benign	Het
Dync1h1	A	G	12: 110,607,341 (GRCm39)	N2644S	probably benign	Het
Eif4g2	A	T	7: 110,676,239 (GRCm39)	N347K	probably benign	Het
Epha10	T	C	4: 124,809,178 (GRCm39)		probably benign	Het
Epm2aip1	T	C	9: 111,101,218 (GRCm39)	F64L	probably benign	Het
Eri2	G	A	7: 119,384,897 (GRCm39)	L535F	probably benign	Het
Garin5b	T	G	7: 4,761,575 (GRCm39)	K379T	possibly damaging	Het
Gm17430	T	C	18: 9,726,561 (GRCm39)	E37G	probably benign	Het
Heatr5b	T	A	17: 79,131,939 (GRCm39)	Q388L	probably benign	Het
Htr1f	A	G	16: 64,746,291 (GRCm39)	W334R	probably damaging	Het
Icam4	A	T	9: 20,940,937 (GRCm39)	C717*	probably null	Het
Iqgap1	A	C	7: 80,383,848 (GRCm39)	L1072W	probably damaging	Het
Kbtbd11	G	T	8: 15,077,886 (GRCm39)	A162S	probably benign	Het
Kif13b	T	G	14: 64,996,038 (GRCm39)	Y941*	probably null	Het
Kndc1	T	C	7: 139,490,371 (GRCm39)	V291A	possibly damaging	Het
Lrrn3	A	T	12: 41,503,594 (GRCm39)	I241N	probably damaging	Het
Macf1	A	G	4: 123,349,312 (GRCm39)	S2387P	probably damaging	Het
Msh5	A	G	17: 35,251,369 (GRCm39)	L451S	possibly damaging	Het
Mthfd1	T	G	12: 76,340,914 (GRCm39)	F258V	probably damaging	Het
Ncstn	C	T	1: 171,896,193 (GRCm39)	R495H	probably damaging	Het
Or4k2	T	G	14: 50,423,745 (GRCm39)	T310P	probably benign	Het
Pkd1l3	T	A	8: 110,392,268 (GRCm39)	I1954N	probably damaging	Het
Ppox	C	A	1: 171,105,169 (GRCm39)	V340L	probably damaging	Het
Prkag1	T	C	15: 98,713,768 (GRCm39)	T21A	possibly damaging	Het
Rad9a	A	T	19: 4,247,173 (GRCm39)	C271S	probably benign	Het
Raph1	T	C	1: 60,535,381 (GRCm39)		probably null	Het
Reln	A	G	5: 22,153,510 (GRCm39)	F2265L	probably damaging	Het
Shc4	A	G	2: 125,471,647 (GRCm39)	I304T	probably damaging	Het
Slc35f3	T	A	8: 127,116,011 (GRCm39)	L313M	probably damaging	Het
Spata31g1	T	A	4: 42,972,195 (GRCm39)	H509Q	probably benign	Het
Spef1l	A	T	7: 139,558,587 (GRCm39)	S3R	possibly damaging	Het
Sycp2l	T	A	13: 41,283,337 (GRCm39)	M191K	possibly damaging	Het
Tmem132c	C	A	5: 127,630,199 (GRCm39)	Q579K	probably benign	Het
Trbj2-5	A	G	6: 41,520,394 (GRCm39)		probably benign	Het
Ttc38	A	G	15: 85,728,741 (GRCm39)	E231G	probably benign	Het
Utp20	A	G	10: 88,611,192 (GRCm39)	V1375A	probably benign	Het
Vcan	T	A	13: 89,852,096 (GRCm39)	T955S	probably damaging	Het
Vmn1r89	T	C	7: 12,953,314 (GRCm39)	C17R	possibly damaging	Het
Wnk1	A	G	6: 119,942,696 (GRCm39)		probably benign	Het
Zfp667	T	G	7: 6,308,949 (GRCm39)	I539S	possibly damaging	Het
Zfp738	T	A	13: 67,818,320 (GRCm39)	H557L	probably damaging	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
IGL02751:Pygo1	APN	9	72,852,319 (GRCm39)	missense	probably benign	0.09
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
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

Predicted Primers

PCR Primer
(F):5'- TGCCAATCCGTTCGATGACAG -3'
(R):5'- ATGCGAGGTCAGGGTTAGAC -3'

Sequencing Primer
(F):5'- TCCGTTCGATGACAGCTACAAC -3'
(R):5'- GGGTTAGACACTTGGCCAACATTC -3'

Posted On

2016-06-06