Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01301:Pabpc6'

73251

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pabpc6

Ensembl Gene

ENSMUSG00000046173

Gene Name

poly(A) binding protein, cytoplasmic 6

Synonyms

4932702K14Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01301

Quality Score

Status

Chromosome

Chromosomal Location

9885426-9888633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9886899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 551 (S551P)

Ref Sequence

ENSEMBL: ENSMUSP00000050792 (fasta)

Gene Model

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

AlphaFold

Q9D4E6

Predicted Effect

probably benign
Transcript: ENSMUST00000057190
AA Change: S551P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050792
Gene: ENSMUSG00000046173
AA Change: S551P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 15,164,181 (GRCm39)		probably null	Het
Acacb	A	T	5: 114,384,559 (GRCm39)	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,358,710 (GRCm39)	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,551,425 (GRCm39)	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,005,648 (GRCm39)	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,151,154 (GRCm39)		probably null	Het
Chst3	T	C	10: 60,021,654 (GRCm39)	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625 (GRCm39)	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,375,652 (GRCm39)	L45P	probably damaging	Het
Defb21	A	G	2: 152,416,671 (GRCm39)	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,313,645 (GRCm39)	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,890,793 (GRCm39)	S325P	probably benign	Het
Fam91a1	T	C	15: 58,314,720 (GRCm39)	F534L	probably damaging	Het
Fermt2	T	C	14: 45,702,320 (GRCm39)	E488G	probably damaging	Het
Filip1	T	C	9: 79,726,462 (GRCm39)	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,281,013 (GRCm39)		noncoding transcript	Het
Glra3	C	A	8: 56,393,997 (GRCm39)	A36E	probably benign	Het
Gm9884	T	A	1: 25,869,729 (GRCm39)		probably benign	Het
Hectd2	T	C	19: 36,546,770 (GRCm39)		probably benign	Het
Hnrnpm	C	T	17: 33,888,142 (GRCm39)		probably null	Het
Lrrk2	T	A	15: 91,651,542 (GRCm39)	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,195,701 (GRCm39)	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,588,750 (GRCm39)	Y164*	probably null	Het
Msra	T	C	14: 64,447,884 (GRCm39)	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,342,565 (GRCm39)	A749T	probably damaging	Het
Ngdn	G	T	14: 55,254,571 (GRCm39)	A41S	probably benign	Het
Nlrp12	A	T	7: 3,288,722 (GRCm39)	S597T	probably damaging	Het
Or5b99	A	T	19: 12,976,781 (GRCm39)	I144F	probably damaging	Het
Plekhg5	C	T	4: 152,197,010 (GRCm39)	A752V	probably benign	Het
Prpf4b	T	C	13: 35,068,274 (GRCm39)	S368P	probably benign	Het
Pus7	A	G	5: 23,951,422 (GRCm39)		probably null	Het
Rad23b	T	C	4: 55,366,774 (GRCm39)		probably benign	Het
Rgs13	T	C	1: 144,047,152 (GRCm39)		probably benign	Het
Sfpq	T	C	4: 126,920,553 (GRCm39)		probably benign	Het
Slc9a9	T	A	9: 94,937,512 (GRCm39)	S455T	probably benign	Het
Slco1a1	A	G	6: 141,878,256 (GRCm39)		probably benign	Het
Tmem26	A	T	10: 68,614,436 (GRCm39)	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,211,250 (GRCm39)	I232V	probably benign	Het
Trpm2	A	G	10: 77,759,818 (GRCm39)	L1106P	probably damaging	Het
Vmn1r18	T	C	6: 57,366,652 (GRCm39)		probably benign	Het
Zfp213	G	T	17: 23,780,391 (GRCm39)	A43D	probably benign	Het
Zfp365	A	G	10: 67,745,184 (GRCm39)	V198A	probably damaging	Het
Zfp395	T	A	14: 65,632,200 (GRCm39)		probably null	Het
Zfp618	G	A	4: 63,051,063 (GRCm39)	V615M	probably 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
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
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

2013-10-07