Mutagenetix > Incidental Mutation

Incidental Mutation 'R4533:Pabir3'

333222

Institutional Source

Beutler Lab

Gene Symbol

Pabir3

Ensembl Gene

ENSMUSG00000036013

Gene Name

PABIR family member 3

Synonyms

4930432H15Rik, Fam122c, 4930527G05Rik

MMRRC Submission

041773-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4533 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

52362301-52420062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52382376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 94 (R94H)

Ref Sequence

ENSEMBL: ENSMUSP00000139776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114835] [ENSMUST00000124137] [ENSMUST00000186314]

AlphaFold

Q9D5J5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114835
AA Change: R94H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000124137
AA Change: R94H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186314
AA Change: R94H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,062,761 (GRCm39)	Y405C	probably damaging	Het
Ago3	A	T	4: 126,239,356 (GRCm39)	S832T	probably damaging	Het
Akap9	T	A	5: 4,093,948 (GRCm39)	F2157I	probably damaging	Het
Anapc5	T	C	5: 122,929,798 (GRCm39)	E561G	possibly damaging	Het
Art5	T	C	7: 101,747,545 (GRCm39)	H78R	probably benign	Het
Blvra	T	A	2: 126,932,304 (GRCm39)		probably null	Het
Ccdc171	A	G	4: 83,575,579 (GRCm39)	T488A	possibly damaging	Het
Crtc3	A	T	7: 80,239,543 (GRCm39)	M603K	probably damaging	Het
Csmd1	T	C	8: 15,981,037 (GRCm39)		probably null	Het
Dbh	C	A	2: 27,067,343 (GRCm39)	H409Q	possibly damaging	Het
Gm12185	T	C	11: 48,798,747 (GRCm39)	Y582C	probably damaging	Het
Gm12185	T	C	11: 48,798,921 (GRCm39)	N524S	possibly damaging	Het
Gm7356	A	C	17: 14,221,672 (GRCm39)	I119R	probably damaging	Het
Heatr1	T	A	13: 12,449,392 (GRCm39)	D1963E	probably benign	Het
Ighv1-37	A	T	12: 114,860,147 (GRCm39)	V21D	probably damaging	Het
Itga3	T	G	11: 94,948,119 (GRCm39)	Q602P	probably benign	Het
Kcmf1	G	A	6: 72,826,574 (GRCm39)	R152C	probably damaging	Het
Lin54	T	C	5: 100,633,262 (GRCm39)	I141V	possibly damaging	Het
Mast1	T	A	8: 85,647,990 (GRCm39)	H497L	probably damaging	Het
Mrpl44	T	C	1: 79,753,971 (GRCm39)	F41S	possibly damaging	Het
Myo18b	T	C	5: 112,840,891 (GRCm39)	R2301G	probably damaging	Het
Nek1	A	T	8: 61,460,247 (GRCm39)	M58L	possibly damaging	Het
Or4k15c	T	C	14: 50,321,156 (GRCm39)		probably null	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
P3h3	A	G	6: 124,831,371 (GRCm39)	V338A	possibly damaging	Het
Pcdha7	T	C	18: 37,108,460 (GRCm39)	V495A	possibly damaging	Het
Plcb3	T	C	19: 6,933,640 (GRCm39)	E895G	probably benign	Het
Plekha5	A	G	6: 140,516,057 (GRCm39)	E770G	probably damaging	Het
Ptchd3	C	T	11: 121,727,257 (GRCm39)	S377F	probably damaging	Het
Ptprj	C	T	2: 90,270,299 (GRCm39)	D1266N	probably damaging	Het
Raly	A	T	2: 154,707,853 (GRCm39)	E291V	probably damaging	Het
Rnf217	C	A	10: 31,484,759 (GRCm39)	C141F	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc12a3	A	G	8: 95,083,714 (GRCm39)	M914V	probably null	Het
Tbc1d9	A	G	8: 83,997,547 (GRCm39)	T1035A	probably damaging	Het
Tex14	C	T	11: 87,427,655 (GRCm39)	R36*	probably null	Het
Tiparp	A	G	3: 65,453,768 (GRCm39)	D172G	probably benign	Het
Ttc3	T	A	16: 94,267,736 (GRCm39)		probably benign	Het
Uap1	A	T	1: 169,970,994 (GRCm39)	I466N	probably damaging	Het
Ubr1	T	C	2: 120,772,963 (GRCm39)	T426A	possibly damaging	Het
Vmn1r77	T	A	7: 11,775,756 (GRCm39)	H177Q	probably benign	Het
Vmn2r72	T	A	7: 85,401,134 (GRCm39)	H95L	probably benign	Het
Vwc2l	G	A	1: 70,921,298 (GRCm39)	C151Y	probably damaging	Het
Wdr12	T	C	1: 60,117,354 (GRCm39)	Y414C	probably benign	Het
Zfp609	A	C	9: 65,610,890 (GRCm39)	V691G	probably benign	Het
Zmiz1	T	C	14: 25,646,084 (GRCm39)	Y254H	probably damaging	Het

Other mutations in Pabir3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4198:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4199:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4361:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4515:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4517:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4518:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4519:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4522:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4523:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4529:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4530:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94
R4532:Pabir3	UTSW	X	52,382,376 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ATGCCATTGCTGCTGTACACTC -3'
(R):5'- GTAATCGGCTATGACTGCTTTTAG -3'

Sequencing Primer
(F):5'- GCCATTGCTGCTGTACACTCAATAAG -3'
(R):5'- AAGCCTCCTGATGATGACCTG -3'

Posted On

2015-08-18