Mutagenetix > Incidental Mutation

Incidental Mutation 'R5769:Pabpc6'

446462

Institutional Source

Beutler Lab

Gene Symbol

Pabpc6

Ensembl Gene

ENSMUSG00000046173

Gene Name

poly(A) binding protein, cytoplasmic 6

Synonyms

4932702K14Rik

MMRRC Submission

043369-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R5769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9885426-9888633 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 9886772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 593 (L593*)

Ref Sequence

ENSEMBL: ENSMUSP00000050792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057190]

AlphaFold

Q9D4E6

Predicted Effect

probably null
Transcript: ENSMUST00000057190
AA Change: L593*

SMART Domains

Protein: ENSMUSP00000050792
Gene: ENSMUSG00000046173
AA Change: L593*

Domain	Start	End	E-Value	Type
RRM	12	85	1.78e-20	SMART
RRM	100	171	2.54e-25	SMART
RRM	192	264	1.08e-28	SMART
RRM	305	376	7.57e-24	SMART
low complexity region	500	511	N/A	INTRINSIC
PolyA	561	624	3.28e-34	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,644,595 (GRCm39)	V160E	possibly damaging	Het
Abcb1a	A	C	5: 8,733,426 (GRCm39)	E106A	probably benign	Het
Acap3	A	T	4: 155,986,857 (GRCm39)	D371V	probably damaging	Het
Ahi1	T	C	10: 20,835,981 (GRCm39)		probably null	Het
Coq8a	A	G	1: 180,006,681 (GRCm39)	Y69H	probably damaging	Het
Defb33	T	A	8: 21,387,543 (GRCm39)	F27I	possibly damaging	Het
Dhx29	T	A	13: 113,090,251 (GRCm39)	L776Q	probably damaging	Het
Dnah3	G	A	7: 119,689,175 (GRCm39)	R80*	probably null	Het
Dtna	A	T	18: 23,784,611 (GRCm39)	D646V	probably benign	Het
Eml5	T	A	12: 98,756,878 (GRCm39)	D1964V	probably damaging	Het
Fbn2	A	T	18: 58,238,271 (GRCm39)	N575K	probably damaging	Het
Fbxo38	G	A	18: 62,648,036 (GRCm39)	P834L	probably benign	Het
Fyb2	G	T	4: 104,870,518 (GRCm39)	K706N	probably damaging	Het
Fyb2	T	A	4: 104,872,841 (GRCm39)	V738E	probably damaging	Het
Gcm1	A	G	9: 77,972,249 (GRCm39)	T397A	probably benign	Het
Gins1	A	T	2: 150,767,918 (GRCm39)	E149D	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Grin2a	C	T	16: 9,579,390 (GRCm39)	R291K	possibly damaging	Het
Hdac10	T	C	15: 89,007,819 (GRCm39)	M646V	probably benign	Het
Hes6	G	T	1: 91,340,671 (GRCm39)	R38S	probably damaging	Het
Hipk3	G	A	2: 104,265,298 (GRCm39)	P667S	possibly damaging	Het
Jrk	T	C	15: 74,577,917 (GRCm39)	Q456R	probably benign	Het
Klf18	A	C	4: 117,586,162 (GRCm39)		probably benign	Het
Loxl3	A	G	6: 83,027,581 (GRCm39)	T708A	probably damaging	Het
Lyg1	T	C	1: 37,989,831 (GRCm39)	S19G	unknown	Het
Magel2	T	A	7: 62,027,861 (GRCm39)	M255K	probably benign	Het
Mctp1	A	G	13: 76,907,927 (GRCm39)	D242G	probably damaging	Het
Med13	A	T	11: 86,236,829 (GRCm39)	N109K	probably benign	Het
Mms19	A	G	19: 41,952,825 (GRCm39)	F95L	probably damaging	Het
Nav1	A	G	1: 135,379,995 (GRCm39)	L1569P	probably damaging	Het
Nup188	A	G	2: 30,220,747 (GRCm39)	E940G	probably benign	Het
Oas1d	T	C	5: 121,054,917 (GRCm39)	F163S	probably benign	Het
Odf2l	A	G	3: 144,841,492 (GRCm39)	K304R	possibly damaging	Het
Otud3	T	A	4: 138,625,421 (GRCm39)	N211I	possibly damaging	Het
Pdcd11	T	A	19: 47,091,076 (GRCm39)	L350Q	possibly damaging	Het
Pdia4	A	G	6: 47,792,446 (GRCm39)		probably benign	Het
Pik3cb	G	A	9: 98,975,212 (GRCm39)	Q223*	probably null	Het
Plb1	G	A	5: 32,474,866 (GRCm39)	V696M	probably benign	Het
Ppp2r5a	T	C	1: 191,104,863 (GRCm39)	D61G	probably benign	Het
Preb	G	T	5: 31,115,635 (GRCm39)	Y87*	probably null	Het
Rdh16f2	A	T	10: 127,712,758 (GRCm39)	N252I	probably benign	Het
Rida	T	C	15: 34,484,704 (GRCm39)		probably benign	Het
Rxrb	T	C	17: 34,251,821 (GRCm39)		probably benign	Het
Sis	T	A	3: 72,835,568 (GRCm39)	K931N	probably damaging	Het
Srcap	T	A	7: 127,158,994 (GRCm39)		probably benign	Het
Srp68	A	G	11: 116,137,495 (GRCm39)	S525P	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Synj1	A	G	16: 90,735,141 (GRCm39)		probably benign	Het
Syt12	T	C	19: 4,501,072 (GRCm39)	Y326C	probably damaging	Het
Tesk2	A	G	4: 116,659,512 (GRCm39)		probably null	Het
Tmem41b	G	A	7: 109,577,945 (GRCm39)	T113I	possibly damaging	Het
Tmtc2	T	C	10: 105,205,907 (GRCm39)	I463V	probably benign	Het
Trak1	A	T	9: 121,277,904 (GRCm39)	D320V	probably damaging	Het
Ushbp1	A	T	8: 71,838,863 (GRCm39)	N570K	probably benign	Het
Vmn1r33	T	A	6: 66,588,817 (GRCm39)	I246F	possibly damaging	Het
Vmn2r54	A	C	7: 12,349,209 (GRCm39)	L791R	possibly damaging	Het
Washc1	A	T	17: 66,425,111 (GRCm39)	T372S	probably benign	Het
Zfp1005	A	G	2: 150,110,198 (GRCm39)	E296G	possibly damaging	Het

Other mutations in Pabpc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Pabpc6	APN	17	9,887,427 (GRCm39)	missense	possibly damaging	0.80
IGL00984:Pabpc6	APN	17	9,887,618 (GRCm39)	missense	probably damaging	1.00
IGL01123:Pabpc6	APN	17	9,887,076 (GRCm39)	missense	probably benign	0.01
IGL01301:Pabpc6	APN	17	9,886,899 (GRCm39)	missense	probably benign
IGL02347:Pabpc6	APN	17	9,887,993 (GRCm39)	missense	probably benign	0.03
ANU18:Pabpc6	UTSW	17	9,886,899 (GRCm39)	missense	probably benign
R0022:Pabpc6	UTSW	17	9,888,145 (GRCm39)	missense	probably benign	0.19
R0022:Pabpc6	UTSW	17	9,888,145 (GRCm39)	missense	probably benign	0.19
R1593:Pabpc6	UTSW	17	9,886,742 (GRCm39)	missense	probably damaging	0.98
R1695:Pabpc6	UTSW	17	9,887,003 (GRCm39)	missense	probably benign	0.01
R3897:Pabpc6	UTSW	17	9,888,056 (GRCm39)	missense	probably benign	0.38
R3903:Pabpc6	UTSW	17	9,888,083 (GRCm39)	missense	probably benign	0.16
R4585:Pabpc6	UTSW	17	9,888,002 (GRCm39)	missense	probably damaging	1.00
R5009:Pabpc6	UTSW	17	9,887,489 (GRCm39)	missense	probably damaging	1.00
R5112:Pabpc6	UTSW	17	9,888,540 (GRCm39)	missense	probably damaging	1.00
R6174:Pabpc6	UTSW	17	9,887,084 (GRCm39)	missense	probably benign
R6488:Pabpc6	UTSW	17	9,888,528 (GRCm39)	missense	probably damaging	1.00
R7140:Pabpc6	UTSW	17	9,887,357 (GRCm39)	missense	possibly damaging	0.46
R7586:Pabpc6	UTSW	17	9,887,611 (GRCm39)	missense	probably damaging	1.00
R8001:Pabpc6	UTSW	17	9,888,302 (GRCm39)	missense	probably damaging	1.00
R8129:Pabpc6	UTSW	17	9,887,427 (GRCm39)	missense	possibly damaging	0.80
R8211:Pabpc6	UTSW	17	9,888,386 (GRCm39)	missense	probably damaging	1.00
R8393:Pabpc6	UTSW	17	9,887,435 (GRCm39)	missense	probably damaging	1.00
R8792:Pabpc6	UTSW	17	9,888,332 (GRCm39)	missense	probably damaging	1.00
R9036:Pabpc6	UTSW	17	9,888,281 (GRCm39)	missense	probably damaging	1.00
R9147:Pabpc6	UTSW	17	9,886,937 (GRCm39)	missense	probably benign
R9148:Pabpc6	UTSW	17	9,886,937 (GRCm39)	missense	probably benign
R9255:Pabpc6	UTSW	17	9,886,769 (GRCm39)	missense	probably damaging	1.00
R9799:Pabpc6	UTSW	17	9,888,114 (GRCm39)	missense	probably damaging	1.00
RF038:Pabpc6	UTSW	17	9,887,044 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTCTTCAGTGAAGCAGGGG -3'
(R):5'- TACTGCTGGAGTCCGAAATCC -3'

Sequencing Primer
(F):5'- AAGCAGGGGTTTTTATGCATTCACC -3'
(R):5'- TGGAGTCCGAAATCCCCCTC -3'

Posted On

2016-11-21