Mutagenetix > Incidental Mutation

Incidental Mutation 'R9351:Pagr1a'

708067

Institutional Source

Beutler Lab

Gene Symbol

Pagr1a

Ensembl Gene

ENSMUSG00000030680

Gene Name

PAXIP1 associated glutamate rich protein 1A

Synonyms

PA1, C77040, 2900092E17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R9351 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

126614223-126616524 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126616073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 7 (H7Q)

Ref Sequence

ENSEMBL: ENSMUSP00000144469 (fasta)

Gene Model

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

AlphaFold

Q99L02

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

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: 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: 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 damaging
Transcript: ENSMUST00000200948
AA Change: H7Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144469
Gene: ENSMUSG00000030680
AA Change: H7Q

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: ENSMUST00000201686

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 damaging
Transcript: ENSMUST00000202624
AA Change: H7Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144099
Gene: ENSMUSG00000107068
AA Change: H7Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000202798
AA Change: H7Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144243
Gene: ENSMUSG00000107068
AA Change: H7Q

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 damaging
Transcript: ENSMUST00000206416
AA Change: H7Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (54/54)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,066,068 (GRCm39)	T84A	probably benign	Het
Abca17	G	A	17: 24,510,751 (GRCm39)	S909L	probably benign	Het
Adamtsl3	A	T	7: 82,169,929 (GRCm39)	Y371F	possibly damaging	Het
Adcy9	A	T	16: 4,236,228 (GRCm39)	S394R	probably damaging	Het
Ahcyl1	T	C	3: 107,575,011 (GRCm39)	N444S	probably damaging	Het
Ahnak	A	C	19: 8,985,232 (GRCm39)	D2172A	probably damaging	Het
Arhgef28	C	T	13: 98,130,576 (GRCm39)	D421N	probably benign	Het
Brd1	T	A	15: 88,614,307 (GRCm39)	E196V	possibly damaging	Het
Cabs1	A	G	5: 88,128,300 (GRCm39)	D317G	probably damaging	Het
Ccdc96	T	C	5: 36,642,069 (GRCm39)	I25T	unknown	Het
Clgn	A	G	8: 84,153,218 (GRCm39)	R607G	possibly damaging	Het
Clp1	T	C	2: 84,554,195 (GRCm39)	K325E	probably benign	Het
Dcun1d1	A	T	3: 35,975,185 (GRCm39)	I52K	probably benign	Het
Dync2h1	G	A	9: 7,176,911 (GRCm39)	T16I	probably damaging	Het
Eif4a3l1	A	T	6: 136,306,771 (GRCm39)	I411F	probably benign	Het
Epb41l5	A	G	1: 119,477,639 (GRCm39)	F711L	probably benign	Het
Esr1	G	A	10: 4,696,763 (GRCm39)	W204*	probably null	Het
Fat2	A	G	11: 55,172,127 (GRCm39)	L2862P	probably damaging	Het
Frmd3	A	G	4: 74,054,068 (GRCm39)	E159G	probably damaging	Het
Gsto2	T	A	19: 47,874,608 (GRCm39)	C243S	possibly damaging	Het
Heg1	A	G	16: 33,545,867 (GRCm39)	H206R	probably benign	Het
Ifi203	A	G	1: 173,750,133 (GRCm39)	V862A	probably benign	Het
Ippk	C	T	13: 49,615,107 (GRCm39)	H497Y	probably benign	Het
Irf5	A	T	6: 29,531,317 (GRCm39)	N61I	possibly damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kcnj12	C	T	11: 60,960,673 (GRCm39)	H324Y	probably damaging	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Lars2	A	G	9: 123,265,366 (GRCm39)	Q474R	probably benign	Het
Lctl	T	C	9: 64,040,473 (GRCm39)	F472S	possibly damaging	Het
Map4k2	T	C	19: 6,401,223 (GRCm39)	S590P	probably benign	Het
Mcf2l	G	T	8: 13,050,757 (GRCm39)	L337F	possibly damaging	Het
Mvp	A	G	7: 126,595,435 (GRCm39)	V225A	probably damaging	Het
Nfat5	T	A	8: 108,065,910 (GRCm39)	D241E	probably damaging	Het
Or6n2	T	A	1: 173,897,021 (GRCm39)	D52E	probably benign	Het
Parp8	G	T	13: 117,000,781 (GRCm39)	Q787K	probably damaging	Het
Pcdhb2	C	A	18: 37,429,369 (GRCm39)	N90K	probably damaging	Het
Pde6h	A	G	6: 136,936,332 (GRCm39)	K25R	probably benign	Het
Prr35	G	A	17: 26,166,118 (GRCm39)	Q390*	probably null	Het
Psd3	C	A	8: 68,413,301 (GRCm39)	A410S	probably benign	Het
Pus10	A	G	11: 23,617,311 (GRCm39)	N8S	probably benign	Het
Rnf115	T	C	3: 96,695,994 (GRCm39)	L260S	probably damaging	Het
Sdsl	A	T	5: 120,601,159 (GRCm39)	Y38N	probably benign	Het
Sf1	A	G	19: 6,415,694 (GRCm39)	D11G	probably damaging	Het
Stxbp5l	A	G	16: 36,936,047 (GRCm39)	Y1177H	probably damaging	Het
Taar2	G	A	10: 23,816,900 (GRCm39)	V147I	probably benign	Het
Tmed3	A	T	9: 89,584,980 (GRCm39)	F92I	possibly damaging	Het
Tmprss15	T	C	16: 78,832,086 (GRCm39)	T357A	probably damaging	Het
Trbv14	A	T	6: 41,112,428 (GRCm39)	D75V	probably damaging	Het
Vmn1r30	A	G	6: 58,412,262 (GRCm39)	V190A	probably benign	Het
Vmn2r115	A	T	17: 23,578,482 (GRCm39)	I652F	probably benign	Het
Vmn2r26	A	T	6: 124,016,333 (GRCm39)	M266L	probably benign	Het
Wdr17	T	C	8: 55,143,057 (GRCm39)	I198V	probably benign	Het
Wdr27	G	A	17: 15,128,833 (GRCm39)	A540V	possibly damaging	Het
Zfp26	A	C	9: 20,349,447 (GRCm39)	Y372*	probably null	Het
Zfp286	A	G	11: 62,670,801 (GRCm39)	V424A	probably damaging	Het

Other mutations in Pagr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Pagr1a	APN	7	126,614,647 (GRCm39)	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- AGCTTCTAGTGCCTCCTCAG -3'
(R):5'- AAAACAGGCCCTTCCCTTTC -3'

Sequencing Primer
(F):5'- TCAGGCCTGGATCCCTCAC -3'
(R):5'- AACGGCAGAATTCTGGGTCC -3'

Posted On

2022-04-18