Mutagenetix > Incidental Mutation

Incidental Mutation 'R6340:Pygo1'

513888

Institutional Source

Beutler Lab

Gene Symbol

Pygo1

Ensembl Gene

ENSMUSG00000034910

Gene Name

pygopus 1

Synonyms

2600014C22Rik

MMRRC Submission

044494-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72832927-72859463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 72852711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 299 (N299K)

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: N299K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044368
Gene: ENSMUSG00000034910
AA Change: N299K

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

Meta Mutation Damage Score

0.0768

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

98% (41/42)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	C	T	1: 34,771,304 (GRCm39)	L1204F	probably damaging	Het
Atp9b	T	C	18: 80,822,115 (GRCm39)	D495G	probably benign	Het
B020011L13Rik	G	A	1: 117,729,614 (GRCm39)	V374I	probably benign	Het
Babam1	T	A	8: 71,855,449 (GRCm39)	V214D	probably damaging	Het
Chpf2	T	C	5: 24,796,773 (GRCm39)	V573A	probably damaging	Het
Elmo3	T	A	8: 106,033,379 (GRCm39)	I115N	probably damaging	Het
Emc1	T	A	4: 139,092,874 (GRCm39)	Y564N	probably damaging	Het
Fam180a	A	C	6: 35,292,322 (GRCm39)	L28R	probably damaging	Het
Fiz1	C	T	7: 5,011,400 (GRCm39)	A373T	possibly damaging	Het
Fnip2	A	G	3: 79,415,152 (GRCm39)	F243L	probably damaging	Het
Gabra5	A	T	7: 57,063,496 (GRCm39)	N309K	probably damaging	Het
Gm17654	A	G	14: 43,815,534 (GRCm39)	L91P	unknown	Het
Gm19684	G	A	17: 36,438,402 (GRCm39)		probably null	Het
Gm9376	A	T	14: 118,504,669 (GRCm39)	M34L	unknown	Het
Hmgcr	A	G	13: 96,802,366 (GRCm39)	F106S	probably damaging	Het
Hydin	T	G	8: 111,081,574 (GRCm39)		probably null	Het
Igf2bp3	A	G	6: 49,191,393 (GRCm39)	Y5H	probably damaging	Het
Igsf11	A	G	16: 38,829,336 (GRCm39)	T77A	probably benign	Het
Il20	A	G	1: 130,836,118 (GRCm39)	Y142H	probably benign	Het
Macf1	A	T	4: 123,342,042 (GRCm39)	D2160E	probably benign	Het
Melk	A	G	4: 44,340,633 (GRCm39)	Y310C	probably damaging	Het
Mep1a	C	T	17: 43,789,949 (GRCm39)	V454M	probably benign	Het
Mep1a	A	T	17: 43,790,124 (GRCm39)	N395K	probably benign	Het
Mnt	A	G	11: 74,727,242 (GRCm39)	K43E	probably damaging	Het
Nrap	A	G	19: 56,335,616 (GRCm39)	I853T	probably damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or1j13	T	C	2: 36,370,032 (GRCm39)	T37A	probably benign	Het
Or8d1b	T	G	9: 38,887,062 (GRCm39)	L30R	probably damaging	Het
Pdia4	A	G	6: 47,777,952 (GRCm39)	S347P	probably benign	Het
Pkd1l1	T	G	11: 8,794,649 (GRCm39)	Q1837H	probably benign	Het
Pramel11	T	C	4: 143,623,877 (GRCm39)	N99S	possibly damaging	Het
Sirpb1b	A	T	3: 15,613,725 (GRCm39)	V52E	probably damaging	Het
Tdrd7	T	A	4: 45,994,517 (GRCm39)	I305N	probably damaging	Het
Trav14-1	T	C	14: 53,791,955 (GRCm39)	S102P	probably damaging	Het
Tsga10	C	A	1: 37,874,266 (GRCm39)		probably benign	Het
Uso1	T	A	5: 92,347,711 (GRCm39)	H837Q	probably benign	Het
Vmn2r82	A	T	10: 79,231,727 (GRCm39)	R575S	probably benign	Het
Yae1d1	C	A	13: 18,167,861 (GRCm39)	A11S	probably benign	Het
Zfp277	A	G	12: 40,368,548 (GRCm39)	I459T	possibly 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
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
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'- AACAAGACTTCACTCAAGGGG -3'
(R):5'- CCAGTGCAGATGCGATGAAAC -3'

Sequencing Primer
(F):5'- GGCAACCAAAACCCCGAATCAG -3'
(R):5'- GATGCGATGAAACCACTTCTG -3'

Posted On

2018-04-27