Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01433:Pagr1a'

84260

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pagr1a

Ensembl Gene

ENSMUSG00000030680

Gene Name

PAXIP1 associated glutamate rich protein 1A

Synonyms

PA1, C77040, 2900092E17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

IGL01433

Quality Score

Status

Chromosome

Chromosomal Location

126614223-126616524 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 126614647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146318 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000133172] [ENSMUST00000159916] [ENSMUST00000161931] [ENSMUST00000162069] [ENSMUST00000206416] [ENSMUST00000202798] [ENSMUST00000200948] [ENSMUST00000202045] [ENSMUST00000165096] [ENSMUST00000202624]

AlphaFold

Q99L02

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000032918

SMART Domains

Protein: ENSMUSP00000032918
Gene: ENSMUSG00000030680

Domain	Start	End	E-Value	Type
low complexity region	64	77	N/A	INTRINSIC
Pfam:PAXIP1_C	85	217	7.2e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133172

SMART Domains

Protein: ENSMUSP00000119213
Gene: ENSMUSG00000030681

Domain	Start	End	E-Value	Type
Pfam:Vault	25	64	3.3e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159916

SMART Domains

Protein: ENSMUSP00000124520
Gene: ENSMUSG00000045114

Domain	Start	End	E-Value	Type
low complexity region	69	82	N/A	INTRINSIC
low complexity region	91	112	N/A	INTRINSIC
low complexity region	146	169	N/A	INTRINSIC
Pfam:CD225	263	337	3.8e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161728

Predicted Effect

probably benign
Transcript: ENSMUST00000161931

SMART Domains

Protein: ENSMUSP00000143833
Gene: ENSMUSG00000045114

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162069

SMART Domains

Protein: ENSMUSP00000123889
Gene: ENSMUSG00000030680

Domain	Start	End	E-Value	Type
Pfam:PAXIP1_C	1	55	2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206416

Predicted Effect

probably benign
Transcript: ENSMUST00000172958

SMART Domains

Protein: ENSMUSP00000134420
Gene: ENSMUSG00000092534

Domain	Start	End	E-Value	Type
Pfam:PAXIP1_C	1	72	1.7e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202798

SMART Domains

Protein: ENSMUSP00000144243
Gene: ENSMUSG00000107068

Domain	Start	End	E-Value	Type
low complexity region	64	77	N/A	INTRINSIC
Pfam:PAXIP1_C	85	217	7.2e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200948

SMART Domains

Protein: ENSMUSP00000144469
Gene: ENSMUSG00000030680

Domain	Start	End	E-Value	Type
low complexity region	64	77	N/A	INTRINSIC
Pfam:PAXIP1_C	85	217	7.2e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202936

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201963

Predicted Effect

probably benign
Transcript: ENSMUST00000202045

SMART Domains

Protein: ENSMUSP00000144042
Gene: ENSMUSG00000045114

Domain	Start	End	E-Value	Type
Pfam:CD225	1	52	3.5e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165096

SMART Domains

Protein: ENSMUSP00000127250
Gene: ENSMUSG00000030681

Domain	Start	End	E-Value	Type
Pfam:Vault	122	163	5.4e-18	PFAM
Pfam:Vault	175	215	7.7e-16	PFAM
Pfam:Vault	228	271	7.9e-14	PFAM
Pfam:Vault	333	377	2.8e-16	PFAM
Pfam:MVP_shoulder	528	656	5.9e-55	PFAM
low complexity region	707	720	N/A	INTRINSIC
low complexity region	733	749	N/A	INTRINSIC
low complexity region	751	761	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201686

Predicted Effect

probably benign
Transcript: ENSMUST00000202624

SMART Domains

Protein: ENSMUSP00000144099
Gene: ENSMUSG00000107068

Domain	Start	End	E-Value	Type
low complexity region	64	77	N/A	INTRINSIC
Pfam:PAXIP1_C	85	176	5.9e-29	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C16ORF53 (PA1) is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM, May 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	C	T	3: 30,652,188 (GRCm39)	G302D	probably damaging	Het
Adam19	T	C	11: 46,003,610 (GRCm39)	L146P	probably damaging	Het
Adcy8	T	A	15: 64,609,263 (GRCm39)	Y852F	possibly damaging	Het
Arfgef1	T	C	1: 10,223,657 (GRCm39)	T1520A	probably damaging	Het
Atp8b1	C	T	18: 64,706,590 (GRCm39)	V199I	probably benign	Het
Avl9	A	G	6: 56,730,382 (GRCm39)	D575G	probably damaging	Het
Bcam	C	A	7: 19,494,107 (GRCm39)	V395L	possibly damaging	Het
Bltp1	T	G	3: 36,941,919 (GRCm39)	S241R	probably damaging	Het
Ccdc198	G	T	14: 49,473,341 (GRCm39)	T128K	probably benign	Het
Cgn	T	A	3: 94,686,769 (GRCm39)	N178Y	probably damaging	Het
D5Ertd579e	A	T	5: 36,776,098 (GRCm39)	D168E	probably damaging	Het
Dnah17	G	T	11: 117,940,760 (GRCm39)	T3288K	probably damaging	Het
Ednrb	A	T	14: 104,080,626 (GRCm39)	I96N	probably damaging	Het
Gdpd3	A	G	7: 126,370,356 (GRCm39)	I264V	possibly damaging	Het
Itih4	T	C	14: 30,617,405 (GRCm39)	V575A	probably benign	Het
Jhy	G	A	9: 40,828,512 (GRCm39)	R465C	possibly damaging	Het
Kcna4	C	T	2: 107,127,078 (GRCm39)	S604F	probably damaging	Het
Kcnj6	A	G	16: 94,633,814 (GRCm39)	V99A	probably benign	Het
Kdm2a	A	G	19: 4,392,888 (GRCm39)	I489T	possibly damaging	Het
Kif13a	A	G	13: 46,926,384 (GRCm39)	S241P	probably damaging	Het
Lax1	T	C	1: 133,608,137 (GRCm39)	I201M	probably benign	Het
Lzic	T	A	4: 149,572,604 (GRCm39)	S65T	probably benign	Het
Marchf9	T	C	10: 126,892,562 (GRCm39)	T309A	probably benign	Het
Ndufc1	T	C	3: 51,314,797 (GRCm39)	K70E	possibly damaging	Het
Optn	T	C	2: 5,031,955 (GRCm39)	K504R	probably benign	Het
Or51q1	A	T	7: 103,628,539 (GRCm39)	I53F	probably damaging	Het
Pold1	G	A	7: 44,192,656 (GRCm39)		probably benign	Het
Ptprq	A	G	10: 107,412,741 (GRCm39)	I1786T	probably damaging	Het
Rgs20	T	C	1: 5,140,300 (GRCm39)	D34G	possibly damaging	Het
Rnps1	T	C	17: 24,643,519 (GRCm39)		probably null	Het
Rpgrip1	T	C	14: 52,363,834 (GRCm39)	V261A	probably damaging	Het
Sfxn1	A	G	13: 54,247,935 (GRCm39)	N220S	probably benign	Het
Slc35f1	T	A	10: 52,949,542 (GRCm39)		probably benign	Het
Slc5a4b	T	C	10: 75,906,329 (GRCm39)		probably benign	Het
Snx19	A	G	9: 30,340,067 (GRCm39)	I402V	possibly damaging	Het
Spaca6	T	C	17: 18,051,429 (GRCm39)	V35A	probably benign	Het
Taar2	A	G	10: 23,816,657 (GRCm39)	T66A	probably benign	Het
Tanc2	C	T	11: 105,701,348 (GRCm39)	H288Y	possibly damaging	Het
Tbc1d31	A	G	15: 57,804,164 (GRCm39)	Q393R	probably benign	Het
Trpm1	A	G	7: 63,854,276 (GRCm39)	Y133C	probably damaging	Het
Vmn2r105	T	C	17: 20,448,817 (GRCm39)	D120G	probably benign	Het
Vmn2r56	C	A	7: 12,449,541 (GRCm39)	M232I	probably benign	Het
Vps35l	A	G	7: 118,373,274 (GRCm39)		probably null	Het
Zfp251	C	T	15: 76,738,755 (GRCm39)	V113I	probably benign	Het

Other mutations in Pagr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1440:Pagr1a	UTSW	7	126,615,469 (GRCm39)	splice site	probably benign
R4751:Pagr1a	UTSW	7	126,614,551 (GRCm39)	missense	probably damaging	1.00
R5579:Pagr1a	UTSW	7	126,614,614 (GRCm39)	missense	probably damaging	1.00
R6994:Pagr1a	UTSW	7	126,615,613 (GRCm39)	critical splice donor site	probably null
R7412:Pagr1a	UTSW	7	126,615,736 (GRCm39)	missense	probably benign
R9135:Pagr1a	UTSW	7	126,615,954 (GRCm39)	missense	probably benign	0.01
R9351:Pagr1a	UTSW	7	126,616,073 (GRCm39)	missense	probably damaging	0.98

Posted On

2013-11-11