Mutagenetix > Incidental Mutation

Incidental Mutation 'R0022:Pabpc6'

15211

Institutional Source

Beutler Lab

Gene Symbol

Pabpc6

Ensembl Gene

ENSMUSG00000046173

Gene Name

poly(A) binding protein, cytoplasmic 6

Synonyms

4932702K14Rik

MMRRC Submission

038317-MU

Accession Numbers

Essential gene?

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

Stock #

R0022 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

9885426-9888633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9888145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 135 (N135K)

Ref Sequence

ENSEMBL: ENSMUSP00000050792 (fasta)

Gene Model

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

AlphaFold

Q9D4E6

Predicted Effect

probably benign
Transcript: ENSMUST00000057190
AA Change: N135K

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050792
Gene: ENSMUSG00000046173
AA Change: N135K

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

0.1923

Coding Region Coverage

1x: 82.0%
3x: 74.9%
10x: 56.1%
20x: 37.0%

Validation Efficiency

97% (90/93)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aste1	T	A	9: 105,273,823 (GRCm39)	L21*	probably null	Het
Btbd10	G	A	7: 112,924,988 (GRCm39)	Q287*	probably null	Het
Cd244a	A	G	1: 171,401,330 (GRCm39)	D48G	probably benign	Het
Cdc20	T	A	4: 118,292,686 (GRCm39)	H354L	probably damaging	Het
Cdhr3	G	A	12: 33,132,263 (GRCm39)	T120I	probably damaging	Het
Chd8	A	T	14: 52,470,312 (GRCm39)	S433T	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col9a3	A	G	2: 180,261,549 (GRCm39)	D613G	probably damaging	Het
Coro7	C	T	16: 4,451,168 (GRCm39)	R507H	probably benign	Het
Cracdl	C	T	1: 37,667,326 (GRCm39)	R240Q	probably damaging	Het
Csf1	A	T	3: 107,661,178 (GRCm39)	V113E	probably damaging	Het
Dclre1b	G	T	3: 103,710,464 (GRCm39)	H482Q	probably benign	Het
Ephb6	T	C	6: 41,591,503 (GRCm39)	V220A	probably damaging	Het
Ggct	C	A	6: 54,962,887 (GRCm39)	E175*	probably null	Het
Gm5316	T	C	6: 122,877,354 (GRCm39)		noncoding transcript	Het
Gzmn	A	G	14: 56,404,382 (GRCm39)	S152P	probably damaging	Het
Hoxa7	T	C	6: 52,194,363 (GRCm39)	N8S	probably damaging	Het
Il12rb2	A	G	6: 67,275,903 (GRCm39)	F630S	probably damaging	Het
Kit	A	G	5: 75,783,657 (GRCm39)	N378S	probably benign	Het
Lrp1b	A	T	2: 40,888,050 (GRCm39)		probably benign	Het
Ltbp1	T	A	17: 75,671,355 (GRCm39)	V1194D	probably damaging	Het
Mc5r	T	G	18: 68,471,853 (GRCm39)	S71A	probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Naa25	C	A	5: 121,556,039 (GRCm39)	L276M	probably damaging	Het
Nlrp1b	T	G	11: 71,052,755 (GRCm39)	K888T	possibly damaging	Het
Pik3r2	A	G	8: 71,223,545 (GRCm39)	F346S	probably damaging	Het
Pkd1	T	C	17: 24,813,793 (GRCm39)	W4086R	probably damaging	Het
Pmfbp1	C	T	8: 110,252,039 (GRCm39)	R395W	probably damaging	Het
Ppp1ca	T	G	19: 4,244,580 (GRCm39)	V213G	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rapgef2	G	A	3: 78,995,207 (GRCm39)	R814C	probably damaging	Het
Rnasel	A	T	1: 153,636,521 (GRCm39)	I634F	probably damaging	Het
Rnf157	A	T	11: 116,240,276 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,471,011 (GRCm39)	S4567P	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Smcr8	T	A	11: 60,671,185 (GRCm39)	W778R	probably damaging	Het
Stat1	T	A	1: 52,179,789 (GRCm39)	L333Q	probably damaging	Het
Taar1	G	T	10: 23,796,625 (GRCm39)	A108S	probably benign	Het
Tro	C	G	X: 149,430,508 (GRCm39)		probably benign	Het
Ubr1	A	T	2: 120,791,654 (GRCm39)		probably benign	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
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
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

Posted On

2012-12-12