Mutagenetix > Incidental Mutation

Incidental Mutation 'R6994:Pagr1a'

544050

Institutional Source

Beutler Lab

Gene Symbol

Pagr1a

Ensembl Gene

ENSMUSG00000030680

Gene Name

PAXIP1 associated glutamate rich protein 1A

Synonyms

PA1, C77040, 2900092E17Rik

MMRRC Submission

045100-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R6994 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126614223-126616524 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 126615613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144243 (fasta)

Gene Model

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

AlphaFold

Q99L02

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

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 null
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

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 null
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

Predicted Effect

probably null
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: ENSMUST00000206416

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (82/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	G	4: 144,349,849 (GRCm39)	W369G	probably damaging	Het
Abhd16b	C	T	2: 181,135,461 (GRCm39)	T121M	possibly damaging	Het
Adam5	A	T	8: 25,276,262 (GRCm39)	C468*	probably null	Het
Aim2	C	T	1: 173,283,152 (GRCm39)	A78V	possibly damaging	Het
Alg9	G	A	9: 50,703,422 (GRCm39)	W254*	probably null	Het
Ankrd55	G	C	13: 112,504,834 (GRCm39)	E499Q	probably benign	Het
Atp6v0a2	T	C	5: 124,791,209 (GRCm39)	F546S	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Bpi	A	T	2: 158,100,164 (GRCm39)		probably benign	Het
Bves	A	G	10: 45,215,514 (GRCm39)	H63R	probably benign	Het
Ccdc183	T	C	2: 25,507,057 (GRCm39)	M45V	probably benign	Het
Cfhr4	T	A	1: 139,664,668 (GRCm39)	I464L	possibly damaging	Het
Cmklr1	T	C	5: 113,752,983 (GRCm39)	Y6C	probably damaging	Het
Colgalt1	C	T	8: 72,076,165 (GRCm39)	R539C	probably damaging	Het
Ctsm	T	A	13: 61,687,698 (GRCm39)	E53D	probably damaging	Het
Cyp2a22	A	G	7: 26,638,606 (GRCm39)		probably null	Het
Ddx10	A	G	9: 53,115,411 (GRCm39)	V641A	probably damaging	Het
Ddx6	T	C	9: 44,540,020 (GRCm39)	V316A	probably damaging	Het
Dhx34	T	C	7: 15,937,799 (GRCm39)	D767G	probably benign	Het
Dnaaf6rt	T	C	1: 31,261,990 (GRCm39)		probably benign	Het
Dtnbp1	T	A	13: 45,155,405 (GRCm39)	D15V	probably damaging	Het
Dtx3l	C	T	16: 35,751,742 (GRCm39)		probably null	Het
Entpd8	T	C	2: 24,973,321 (GRCm39)	I162T	probably damaging	Het
Fam186a	G	T	15: 99,840,347 (GRCm39)	Q1966K	probably benign	Het
Fbxo27	A	C	7: 28,392,785 (GRCm39)	D22A	probably damaging	Het
Fermt3	A	T	19: 6,977,095 (GRCm39)	I577N	probably damaging	Het
Frmd8	A	T	19: 5,923,209 (GRCm39)	S81T	probably damaging	Het
Gm5108	T	A	5: 68,102,012 (GRCm39)		probably benign	Het
Gm9195	T	C	14: 72,718,271 (GRCm39)	Y135C	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Kcnh8	A	T	17: 53,284,723 (GRCm39)	I898F	probably benign	Het
Kri1	C	T	9: 21,199,083 (GRCm39)		probably benign	Het
Krt32	T	A	11: 99,977,271 (GRCm39)	I210F	probably damaging	Het
Lama1	G	A	17: 68,060,820 (GRCm39)	C716Y		Het
Lamc2	G	A	1: 153,012,508 (GRCm39)	T722M	probably benign	Het
Lpin3	C	T	2: 160,746,803 (GRCm39)	P766L	probably damaging	Het
Macroh2a1	T	C	13: 56,237,643 (GRCm39)	N206D	probably benign	Het
Marf1	T	C	16: 13,946,721 (GRCm39)	T1169A	probably damaging	Het
Morc1	G	A	16: 48,385,984 (GRCm39)	V536M	probably benign	Het
Morc1	A	T	16: 48,438,909 (GRCm39)	H768L	probably benign	Het
Mpped2	T	A	2: 106,529,878 (GRCm39)	H42Q	possibly damaging	Het
Nfatc1	G	T	18: 80,696,779 (GRCm39)		probably null	Het
Nfkbid	G	A	7: 30,125,192 (GRCm39)	S263N	probably benign	Het
Npas3	C	A	12: 54,115,576 (GRCm39)	Q802K	probably damaging	Het
Or52s1b	T	C	7: 102,822,119 (GRCm39)	T242A	probably damaging	Het
Or5ac20	T	G	16: 59,104,453 (GRCm39)	M136L	possibly damaging	Het
Or5p67	T	A	7: 107,922,101 (GRCm39)	I261F	possibly damaging	Het
Pabpc4l	C	A	3: 46,401,345 (GRCm39)	V100L	possibly damaging	Het
Pcdh1	A	T	18: 38,331,553 (GRCm39)	N483K	probably damaging	Het
Pikfyve	C	A	1: 65,291,689 (GRCm39)	P1303T	probably damaging	Het
Plekhh3	T	A	11: 101,056,519 (GRCm39)		probably null	Het
Pnkd	T	A	1: 74,332,335 (GRCm39)		probably null	Het
Pparg	A	T	6: 115,428,011 (GRCm39)	Q166L	probably benign	Het
Psenen	A	G	7: 30,262,932 (GRCm39)		probably null	Het
Rab4a	T	C	8: 124,557,105 (GRCm39)	S142P	probably damaging	Het
Reg3a	T	C	6: 78,358,132 (GRCm39)	V21A	probably benign	Het
Relt	A	C	7: 100,502,321 (GRCm39)		probably benign	Het
Rftn1	T	A	17: 50,344,019 (GRCm39)	T90S	possibly damaging	Het
Ripor3	T	G	2: 167,839,186 (GRCm39)	D105A	probably damaging	Het
Rnase10	T	A	14: 51,247,138 (GRCm39)	I135N	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rttn	A	G	18: 89,047,023 (GRCm39)	E895G	probably damaging	Het
Serpina3a	G	A	12: 104,079,089 (GRCm39)		probably null	Het
Slco5a1	C	T	1: 12,951,617 (GRCm39)	C562Y	probably damaging	Het
Spen	T	C	4: 141,220,770 (GRCm39)	T396A	unknown	Het
Tgfbr3	A	G	5: 107,280,892 (GRCm39)	S623P	probably damaging	Het
Tmem8b	A	G	4: 43,690,192 (GRCm39)	I876V	probably damaging	Het
Tmod3	T	C	9: 75,416,669 (GRCm39)	K221R	probably damaging	Het
Tomm40	G	T	7: 19,436,831 (GRCm39)	D40E	probably damaging	Het
Trav6d-4	G	T	14: 52,991,048 (GRCm39)	G28V	probably damaging	Het
Trav8d-2	G	T	14: 53,279,933 (GRCm39)	A17S	probably benign	Het
Triml2	T	C	8: 43,643,115 (GRCm39)	C158R	possibly damaging	Het
Trip10	A	G	17: 57,562,331 (GRCm39)	E283G	probably damaging	Het
Tubb2b	T	C	13: 34,311,518 (GRCm39)	Y425C	probably damaging	Het
Ubr1	T	C	2: 120,794,074 (GRCm39)	T37A	probably benign	Het
Unc13b	A	G	4: 43,171,403 (GRCm39)		probably benign	Het
Unc13b	A	G	4: 43,173,203 (GRCm39)		probably benign	Het
Vcan	A	T	13: 89,841,526 (GRCm39)	D379E	possibly damaging	Het
Vmn1r44	T	A	6: 89,871,140 (GRCm39)	H295Q	probably benign	Het
Vmn2r16	A	T	5: 109,487,969 (GRCm39)	S281C	probably damaging	Het
Vmn2r84	C	T	10: 130,226,876 (GRCm39)	A321T	possibly damaging	Het
Vsig10l	A	T	7: 43,114,491 (GRCm39)	H271L	possibly damaging	Het
Vwa8	A	T	14: 79,145,596 (GRCm39)	H91L	possibly damaging	Het
Zfp957	T	A	14: 79,451,130 (GRCm39)	E223V	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
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

Predicted Primers

PCR Primer
(F):5'- AAGTCAAATTCTGTAGGCATGTGC -3'
(R):5'- TGAGGAGGCACTAGAAGCTC -3'

Sequencing Primer
(F):5'- CATGTGCGGCCTGAAACAG -3'
(R):5'- AATGGGCAGTCCTGGATGC -3'

Posted On

2019-05-13