Mutagenetix > Incidental Mutations

Incidental Mutation 'R1593:Pabpc6'

175643

Institutional Source

Beutler Lab

Gene Symbol

Pabpc6

Ensembl Gene

ENSMUSG00000046173

Gene Name

poly(A) binding protein, cytoplasmic 6

Synonyms

4932702K14Rik

MMRRC Submission

039630-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R1593 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9666497-9669704 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9667813 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 603 (M603K)

Ref Sequence

ENSEMBL: ENSMUSP00000050792 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000057190
AA Change: M603K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050792
Gene: ENSMUSG00000046173
AA Change: M603K

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	T	11: 100,481,755	I902N	possibly damaging	Het
Acsl6	A	G	11: 54,323,308	D88G	probably damaging	Het
Adam1a	A	C	5: 121,519,643	I529S	probably benign	Het
Ap3b1	T	C	13: 94,501,927	V838A	unknown	Het
Arrdc2	T	C	8: 70,837,120	Y280C	probably damaging	Het
Atg10	T	C	13: 91,154,261	T53A	probably benign	Het
Ccdc136	T	C	6: 29,415,584	S699P	probably damaging	Het
Cdc23	C	A	18: 34,636,326	V462L	possibly damaging	Het
Clcn6	C	T	4: 148,014,594	A431T	probably benign	Het
Cntn6	T	G	6: 104,832,580	H525Q	possibly damaging	Het
Ctr9	T	C	7: 111,042,853	F296S	possibly damaging	Het
Ctsq	T	A	13: 61,036,172		probably null	Het
Ehd1	A	G	19: 6,298,300	D436G	probably benign	Het
Epha6	A	T	16: 60,424,904	F311I	probably damaging	Het
Esrrg	A	T	1: 188,066,385	T150S	possibly damaging	Het
Exoc2	C	A	13: 30,856,761	R758L	possibly damaging	Het
Exosc7	G	C	9: 123,131,993	V242L	probably benign	Het
Fcho2	T	C	13: 98,784,807	D190G	possibly damaging	Het
Fgd6	T	C	10: 94,045,032	S583P	probably damaging	Het
Frmd4a	A	G	2: 4,473,188	Y60C	probably damaging	Het
Gldc	A	T	19: 30,113,750	I815N	probably damaging	Het
Grm2	A	T	9: 106,650,914	L257Q	probably damaging	Het
Hectd3	C	A	4: 116,997,020	T289K	possibly damaging	Het
Itgb4	T	C	11: 115,980,991	V207A	probably damaging	Het
Lamb3	A	G	1: 193,330,796	E443G	probably damaging	Het
Meis2	T	A	2: 116,000,264	D256V	probably damaging	Het
Muc4	A	G	16: 32,754,686	N1520S	probably benign	Het
Nckap1l	A	G	15: 103,478,854	R719G	probably null	Het
Olfr800	A	T	10: 129,660,225	R140*	probably null	Het
Pcnx2	C	A	8: 125,759,273	R1862L	probably benign	Het
Pon2	T	C	6: 5,273,003	D122G	probably benign	Het
Ppig	T	A	2: 69,749,081	W378R	unknown	Het
Ralgapa1	T	A	12: 55,770,703	E389D	probably damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rarg	A	G	15: 102,239,941	F233L	probably damaging	Het
Rasgrp2	T	C	19: 6,403,460	F90L	possibly damaging	Het
Rrp12	T	A	19: 41,863,241	H1285L	probably benign	Het
Slc16a13	C	A	11: 70,219,082	A198S	probably benign	Het
Spag9	A	G	11: 94,097,233	D441G	probably damaging	Het
Stxbp5l	A	G	16: 37,116,052	F1099S	probably damaging	Het
Tex19.1	T	A	11: 121,147,253	W146R	probably damaging	Het
Tmem8	T	A	17: 26,118,407	I399N	possibly damaging	Het
Tmod3	T	C	9: 75,511,163	D197G	probably benign	Het
Tpp2	A	G	1: 43,975,433	H644R	probably benign	Het
Trpm2	A	G	10: 77,943,076	V352A	possibly damaging	Het
Tulp1	T	C	17: 28,362,701	K233E	probably damaging	Het
Vsir	A	G	10: 60,357,958	T67A	possibly damaging	Het
Wdr49	T	C	3: 75,396,941	N487S	probably benign	Het
Zbtb20	A	G	16: 43,609,423	N99S	probably damaging	Het
Zfp583	C	T	7: 6,317,009	G335S	probably benign	Het
Zgrf1	T	A	3: 127,561,026	V98E	possibly damaging	Het

Other mutations in Pabpc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Pabpc6	APN	17	9668498	missense	possibly damaging	0.80
IGL00984:Pabpc6	APN	17	9668689	missense	probably damaging	1.00
IGL01123:Pabpc6	APN	17	9668147	missense	probably benign	0.01
IGL01301:Pabpc6	APN	17	9667970	missense	probably benign
IGL02347:Pabpc6	APN	17	9669064	missense	probably benign	0.03
ANU18:Pabpc6	UTSW	17	9667970	missense	probably benign
R0022:Pabpc6	UTSW	17	9669216	missense	probably benign	0.19
R0022:Pabpc6	UTSW	17	9669216	missense	probably benign	0.19
R1695:Pabpc6	UTSW	17	9668074	missense	probably benign	0.01
R3897:Pabpc6	UTSW	17	9669127	missense	probably benign	0.38
R3903:Pabpc6	UTSW	17	9669154	missense	probably benign	0.16
R4585:Pabpc6	UTSW	17	9669073	missense	probably damaging	1.00
R5009:Pabpc6	UTSW	17	9668560	missense	probably damaging	1.00
R5112:Pabpc6	UTSW	17	9669611	missense	probably damaging	1.00
R5769:Pabpc6	UTSW	17	9667843	nonsense	probably null
R6174:Pabpc6	UTSW	17	9668155	missense	probably benign
R6488:Pabpc6	UTSW	17	9669599	missense	probably damaging	1.00
R7140:Pabpc6	UTSW	17	9668428	missense	possibly damaging	0.46
R7586:Pabpc6	UTSW	17	9668682	missense	probably damaging	1.00
R8001:Pabpc6	UTSW	17	9669373	missense	probably damaging	1.00
R8129:Pabpc6	UTSW	17	9668498	missense	possibly damaging	0.80
R8211:Pabpc6	UTSW	17	9669457	missense	probably damaging	1.00
R8393:Pabpc6	UTSW	17	9668506	missense	probably damaging	1.00
RF038:Pabpc6	UTSW	17	9668115	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTAGACCTGACTCTGACTTGGCAC -3'
(R):5'- AGCACATCCACACAGATGATGGGC -3'

Sequencing Primer
(F):5'- GACTTGGCACAGGAGATTATAAGTTC -3'
(R):5'- TACTGCTGGAGTCCGAAATC -3'

Posted On

2014-04-24