Mutagenetix > Incidental Mutation

Incidental Mutation 'R8419:Pygo1'

653097

Institutional Source

Beutler Lab

Gene Symbol

Pygo1

Ensembl Gene

ENSMUSG00000034910

Gene Name

pygopus 1

Synonyms

MMRRC Submission

067772-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8419 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72925645-72952181 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72945098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 189 (P189L)

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: P189L

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

SMART Domains

Protein: ENSMUSP00000044368
Gene: ENSMUSG00000034910
AA Change: P189L

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	T	7: 28,143,921	G745C	probably damaging	Het
9930111J21Rik2	A	T	11: 49,019,485	I707N	probably damaging	Het
Abca14	A	G	7: 120,216,266	I246V	probably benign	Het
Adam19	G	A	11: 46,125,023	A337T	possibly damaging	Het
Ankrd40	G	T	11: 94,334,836	G231V	probably damaging	Het
Arhgap5	G	A	12: 52,518,789	V848I	probably damaging	Het
Bmpr2	G	A	1: 59,867,356	R536H	probably damaging	Het
Casz1	T	A	4: 148,948,583	S1310T	probably benign	Het
Chil1	A	T	1: 134,189,542	D367V	probably damaging	Het
Cltc	A	G	11: 86,707,566	V990A	probably benign	Het
Col6a3	A	T	1: 90,802,213	S1790R	probably damaging	Het
Comt	C	T	16: 18,411,887	W24*	probably null	Het
Cyp2c70	T	C	19: 40,160,580	E374G	possibly damaging	Het
Dach1	T	C	14: 98,168,640	T224A	probably damaging	Het
Dapk1	G	A	13: 60,740,097	E656K	probably benign	Het
Dicer1	A	G	12: 104,702,677	S1249P	probably benign	Het
Dpp8	A	C	9: 65,080,755	I861L	probably benign	Het
Enam	C	T	5: 88,503,350	S906L	possibly damaging	Het
Eral1	A	T	11: 78,074,080	I429N	possibly damaging	Het
Fbxo10	C	A	4: 45,041,809	G807C	possibly damaging	Het
Fsip2	G	C	2: 82,978,619	E1761Q	probably damaging	Het
Ggnbp2	C	T	11: 84,837,989		probably null	Het
Gm10696	T	C	3: 94,175,614	I297V	probably benign	Het
Gm13088	A	G	4: 143,656,427	I74T	probably damaging	Het
Gm4353	G	A	7: 116,083,549	P266S	probably benign	Het
Gpr84	T	C	15: 103,309,536	N38S	probably damaging	Het
Guca1a	A	T	17: 47,395,555	I115N	probably damaging	Het
Hic1	C	T	11: 75,166,270	V598M	possibly damaging	Het
Itga1	A	T	13: 115,007,068	I309N	probably damaging	Het
Itga11	T	C	9: 62,755,178	S478P	possibly damaging	Het
Kctd8	T	C	5: 69,340,370	D311G	probably damaging	Het
Klhl32	T	C	4: 24,682,203	E127G	possibly damaging	Het
Lama2	T	A	10: 27,422,563	Y179F	probably benign	Het
Lamb2	G	T	9: 108,488,364	R1382L	probably benign	Het
Mrpl1	C	G	5: 96,226,367	A167G	probably benign	Het
Muc3	A	T	5: 137,146,722	N33K		Het
Myt1	A	T	2: 181,782,606	R31*	probably null	Het
Nectin2	T	C	7: 19,717,721	T463A	probably benign	Het
Nectin2	A	T	7: 19,738,078	Y129N	probably damaging	Het
Olfr103	A	G	17: 37,336,575	I219T	possibly damaging	Het
Olfr1297	A	T	2: 111,621,504	M190K	probably benign	Het
Papolb	T	A	5: 142,528,541	N449I	possibly damaging	Het
Parn	T	C	16: 13,648,474	K236R	probably benign	Het
Prelid1	G	A	13: 55,322,885	R42Q	probably damaging	Het
Prelp	A	G	1: 133,915,282	F42L	probably benign	Het
Rimbp3	T	A	16: 17,213,022	S1437T	probably damaging	Het
Slc37a2	T	A	9: 37,237,430	D252V	probably benign	Het
Socs7	A	G	11: 97,363,339	K233R	probably benign	Het
Stat4	A	G	1: 52,098,478	D476G	possibly damaging	Het
Tesmin	A	G	19: 3,389,077	D43G	probably benign	Het
Thap1	C	A	8: 26,158,474	Y8*	probably null	Het
Tln1	A	G	4: 43,536,397	L1965P	probably damaging	Het
Tmprss11d	A	G	5: 86,309,306	S303P	probably damaging	Het
Tomm40	C	T	7: 19,701,834	V324M	probably damaging	Het
Vmn1r202	A	T	13: 22,501,815	I144K	probably damaging	Het

Other mutations in Pygo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01561:Pygo1	APN	9	72945288	missense	probably damaging	1.00
IGL02033:Pygo1	APN	9	72945401	missense	possibly damaging	0.59
IGL02445:Pygo1	APN	9	72925940	missense	probably benign	0.12
IGL02751:Pygo1	APN	9	72945037	missense	probably benign	0.09
IGL02938:Pygo1	APN	9	72944738	missense	probably damaging	1.00
R1809:Pygo1	UTSW	9	72944796	missense	probably damaging	1.00
R2190:Pygo1	UTSW	9	72945247	nonsense	probably null
R5037:Pygo1	UTSW	9	72944917	missense	probably damaging	0.98
R5523:Pygo1	UTSW	9	72944984	missense	possibly damaging	0.68
R5539:Pygo1	UTSW	9	72944779	missense	probably damaging	1.00
R6163:Pygo1	UTSW	9	72944698	missense	probably damaging	1.00
R6340:Pygo1	UTSW	9	72945429	missense	probably damaging	1.00
R6803:Pygo1	UTSW	9	72942985	missense	probably damaging	1.00
R7716:Pygo1	UTSW	9	72942926	missense	probably damaging	1.00
R8137:Pygo1	UTSW	9	72944858	missense	probably damaging	1.00
R8774:Pygo1	UTSW	9	72945154	missense	possibly damaging	0.76
R8774-TAIL:Pygo1	UTSW	9	72945154	missense	possibly damaging	0.76
R9140:Pygo1	UTSW	9	72945706	missense	probably benign	0.01
R9153:Pygo1	UTSW	9	72944861	missense	possibly damaging	0.93
R9456:Pygo1	UTSW	9	72925774	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGAATCCGTTGGGCATGG -3'
(R):5'- TGGATCCTCCATATTTAGGTGAGG -3'

Sequencing Primer
(F):5'- ATGGGCTTTAACCGGCCTC -3'
(R):5'- GTGAGTGGACGAATTCTGATTC -3'

Posted On

2020-10-20