Mutagenetix > Incidental Mutation

Incidental Mutation 'R8211:Pabpc6'

636189

Institutional Source

Beutler Lab

Gene Symbol

Pabpc6

Ensembl Gene

ENSMUSG00000046173

Gene Name

poly(A) binding protein, cytoplasmic 6

Synonyms

4932702K14Rik

MMRRC Submission

067634-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R8211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9885426-9888633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 9888386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 55 (A55E)

Ref Sequence

ENSEMBL: ENSMUSP00000050792 (fasta)

Gene Model

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

AlphaFold

Q9D4E6

Predicted Effect

probably damaging
Transcript: ENSMUST00000057190
AA Change: A55E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050792
Gene: ENSMUSG00000046173
AA Change: A55E

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: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330017A19Rik	A	G	17: 47,201,309 (GRCm39)		probably benign	Het
Adamtsl3	T	C	7: 82,172,371 (GRCm39)	S445P	probably damaging	Het
Afp	T	C	5: 90,649,345 (GRCm39)	I304T	possibly damaging	Het
Alk	G	A	17: 72,176,702 (GRCm39)	A1534V	probably benign	Het
Ank3	C	T	10: 69,703,228 (GRCm39)	P287L	unknown	Het
Appl1	T	C	14: 26,667,555 (GRCm39)	I367V	probably benign	Het
Arpin	T	A	7: 79,584,992 (GRCm39)	M1L	probably damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
B430203G13Rik	A	T	12: 17,974,540 (GRCm39)	H82L	noncoding transcript	Het
Bcl11a	T	A	11: 24,028,394 (GRCm39)	S2T	probably damaging	Het
Cfap299	A	G	5: 98,477,294 (GRCm39)	I28V	possibly damaging	Het
Cfap46	T	A	7: 139,213,220 (GRCm39)	M1605L	unknown	Het
Chga	C	A	12: 102,527,678 (GRCm39)	Q111K	possibly damaging	Het
Drc7	A	G	8: 95,782,707 (GRCm39)	E24G	unknown	Het
Dst	T	C	1: 34,251,532 (GRCm39)	L2195P	probably damaging	Het
Enpp5	G	A	17: 44,392,402 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,203,035 (GRCm39)	L13P	possibly damaging	Het
Grhl1	T	C	12: 24,636,151 (GRCm39)		probably null	Het
Ikbke	A	G	1: 131,199,515 (GRCm39)	I326T	probably damaging	Het
Krt26	C	T	11: 99,226,110 (GRCm39)	D195N	probably damaging	Het
Lamc2	A	T	1: 153,042,024 (GRCm39)	C37S	probably damaging	Het
Lrriq1	A	G	10: 103,006,408 (GRCm39)	L1239P	probably damaging	Het
Mrps5	T	A	2: 127,445,644 (GRCm39)	H390Q	probably benign	Het
Nphp3	T	A	9: 103,909,096 (GRCm39)	C769S	possibly damaging	Het
Obscn	A	G	11: 59,006,620 (GRCm39)	S1181P	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pcdha9	A	T	18: 37,131,912 (GRCm39)	E327V	possibly damaging	Het
Pds5b	A	G	5: 150,652,407 (GRCm39)	T225A	possibly damaging	Het
Pi4ka	A	C	16: 17,100,769 (GRCm39)	I1807S		Het
Pick1	T	A	15: 79,132,930 (GRCm39)	I330N	probably damaging	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rubcn	A	C	16: 32,656,913 (GRCm39)	C502W	possibly damaging	Het
Slc26a10	G	A	10: 127,009,834 (GRCm39)	R571C	probably benign	Het
Slc44a2	A	T	9: 21,259,434 (GRCm39)	N587Y	probably damaging	Het
Slfn2	T	G	11: 82,960,585 (GRCm39)	V188G	possibly damaging	Het
Smok2b	T	C	17: 13,454,680 (GRCm39)	V280A	probably benign	Het
Snx19	A	G	9: 30,348,761 (GRCm39)	E798G	probably benign	Het
Sspo	T	C	6: 48,469,543 (GRCm39)		probably null	Het
Ugt2b37	T	C	5: 87,390,235 (GRCm39)	I404V	probably benign	Het
Vmn1r160	T	C	7: 22,570,751 (GRCm39)	F35L	possibly damaging	Het
Vmn1r193	A	T	13: 22,403,286 (GRCm39)	Y235*	probably null	Het
Vmn2r53	T	C	7: 12,315,843 (GRCm39)	I659V	probably benign	Het
Vmn2r91	A	G	17: 18,326,762 (GRCm39)	D349G	probably damaging	Het
Zfp292	A	T	4: 34,806,163 (GRCm39)	S2299T	probably benign	Het
Zfp938	T	C	10: 82,062,419 (GRCm39)	N67S	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
R5769:Pabpc6	UTSW	17	9,886,772 (GRCm39)	nonsense	probably null
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
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'- TGGAGCCATTCTCATCACAC -3'
(R):5'- GCCTTTGCAGACATGAACCC -3'

Sequencing Primer
(F):5'- CAGCGTTTTACTGTCAATGGATC -3'
(R):5'- GCAGACATGAACCCCAGCG -3'

Posted On

2020-07-13