Mutagenetix > Incidental Mutation

Incidental Mutation 'T0722:Pabpc1l'

67328

Institutional Source

Beutler Lab

Gene Symbol

Pabpc1l

Ensembl Gene

ENSMUSG00000054582

Gene Name

poly(A) binding protein, cytoplasmic 1-like

Synonyms

1810053B01Rik, ePAB

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

T0722 (G3) of strain 711

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

163867370-163892458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 163884340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 359 (G359D)

Ref Sequence

ENSEMBL: ENSMUSP00000096701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067715]

AlphaFold

A2A5N3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067715
AA Change: G359D

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582
AA Change: G359D

Domain	Start	End	E-Value	Type
RRM	12	85	2.3e-23	SMART
RRM	100	171	1.84e-22	SMART
RRM	192	264	2.31e-28	SMART
RRM	295	366	7.07e-24	SMART
SCOP:d1g9la_	425	478	1e-6	SMART
PolyA	535	598	8.33e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156087

Meta Mutation Damage Score

0.1793

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

95% (42/44)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired oocyte maturation and female infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	G	12: 113,453,197 (GRCm39)	T5A	possibly damaging	Het
Adam6b	T	A	12: 113,454,888 (GRCm39)	D568E	probably benign	Het
Ago3	C	T	4: 126,298,056 (GRCm39)	V155I	probably benign	Het
Ago3	G	A	4: 126,298,103 (GRCm39)	A139V	probably benign	Het
Ago3	C	T	4: 126,298,098 (GRCm39)	A141T	probably benign	Het
Ago3	T	G	4: 126,298,089 (GRCm39)	T144P	probably benign	Het
Ahdc1	ACCTCCT	ACCTCCTCCT	4: 132,790,065 (GRCm39)		probably benign	Het
Atp6v1g3	T	A	1: 138,201,591 (GRCm39)		probably benign	Het
Azin2	A	G	4: 128,839,927 (GRCm39)	Y222H	probably benign	Het
Bicd2	C	A	13: 49,533,127 (GRCm39)	P571Q	probably benign	Het
Camta2	A	G	11: 70,574,831 (GRCm39)	I75T	probably damaging	Het
Casp1	A	T	9: 5,299,851 (GRCm39)	H108L	probably benign	Het
Cdk5r1	G	T	11: 80,368,707 (GRCm39)	V125F	probably benign	Het
Cherp	TTGGACCTGGACCTGGACCTGGACCTGGA	TTGGACCTGGACCTGGACCTGGA	8: 73,215,878 (GRCm39)		probably benign	Het
Cngb1	A	G	8: 96,023,278 (GRCm39)	M240T	probably benign	Het
Cngb1	G	A	8: 96,030,342 (GRCm39)		probably benign	Het
Cngb1	T	C	8: 96,030,324 (GRCm39)		probably benign	Het
Cngb1	G	T	8: 96,024,447 (GRCm39)	Q205K	probably damaging	Het
Cog8	G	T	8: 107,775,625 (GRCm39)	L580I	probably benign	Het
Copa	A	G	1: 171,939,515 (GRCm39)	E593G	possibly damaging	Het
Ctrc	T	TA	4: 141,572,507 (GRCm39)		probably null	Het
Cwf19l2	T	C	9: 3,456,755 (GRCm39)	F696S	probably benign	Het
Ddi2	G	A	4: 141,440,784 (GRCm39)		probably benign	Het
Eml5	T	C	12: 98,807,841 (GRCm39)	D984G	probably null	Het
Fam135b	T	G	15: 71,335,734 (GRCm39)	T487P	probably damaging	Het
Fstl3	A	G	10: 79,615,997 (GRCm39)	Y161C	probably damaging	Het
Gja4	G	C	4: 127,206,024 (GRCm39)	H246Q	probably benign	Het
Gm8186	C	T	17: 26,318,101 (GRCm39)	R32Q	probably benign	Het
Jakmip1	C	A	5: 37,276,247 (GRCm39)	A519D	probably damaging	Het
Jcad	G	T	18: 4,675,531 (GRCm39)	A1098S	probably benign	Het
Klhl14	T	C	18: 21,691,192 (GRCm39)	Y446C	probably damaging	Het
Lims1	A	G	10: 58,254,277 (GRCm39)	N344D	probably benign	Het
Marco	A	T	1: 120,402,441 (GRCm39)	W502R	probably damaging	Het
Mmp13	G	T	9: 7,280,857 (GRCm39)	M413I	possibly damaging	Het
Mmp25	G	A	17: 23,850,192 (GRCm39)	A456V	possibly damaging	Het
Msi2	A	T	11: 88,285,423 (GRCm39)	M207K	probably damaging	Het
Myh8	G	A	11: 67,195,262 (GRCm39)	R1692Q	probably benign	Het
Nbas	A	G	12: 13,402,809 (GRCm39)	I788V	probably benign	Het
Nup188	A	G	2: 30,212,693 (GRCm39)	D632G	probably damaging	Het
Opa1	T	C	16: 29,429,748 (GRCm39)		probably null	Het
Or12k7	T	G	2: 36,958,449 (GRCm39)	L44R	probably damaging	Het
Or1n2	T	C	2: 36,797,582 (GRCm39)	V208A	probably benign	Het
Or4c114	A	G	2: 88,905,303 (GRCm39)	V44A	probably benign	Het
Or5w17	T	A	2: 87,583,467 (GRCm39)	Y290F	probably damaging	Het
Plekhm2	TTCCTCCTCCT	TTCCTCCT	4: 141,359,292 (GRCm39)		probably benign	Het
Pomgnt1	C	T	4: 115,994,624 (GRCm39)		probably benign	Het
Psma5-ps	A	G	10: 85,149,457 (GRCm39)		noncoding transcript	Het
Qser1	A	G	2: 104,617,177 (GRCm39)	C1122R	possibly damaging	Het
Rfx8	A	G	1: 39,722,772 (GRCm39)	S282P	probably damaging	Het
Sec14l2	C	T	11: 4,053,673 (GRCm39)		probably null	Het
Sim2	C	A	16: 93,910,281 (GRCm39)	H228N	probably benign	Het
Slc15a2	A	G	16: 36,772,445 (GRCm38)	M179T	probably benign	Het
Slc30a6	T	A	17: 74,719,319 (GRCm39)		probably null	Het
Smarcc1	G	A	9: 110,035,153 (GRCm39)	E859K	possibly damaging	Het
Snx1	CTT	CTTGTT	9: 66,012,209 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,201,664 (GRCm39)	V2321A	probably benign	Het
Spta1	A	G	1: 174,018,632 (GRCm39)		probably benign	Het
Sytl1	C	A	4: 132,984,162 (GRCm39)		probably benign	Het
Sytl1	A	G	4: 132,984,164 (GRCm39)		probably benign	Het
Tent4a	G	A	13: 69,655,074 (GRCm39)	R224*	probably null	Het
Terf2	T	C	8: 107,803,306 (GRCm39)	K425E	probably benign	Het
Tmem26	A	G	10: 68,614,548 (GRCm39)	E321G	probably benign	Het
Toe1	T	C	4: 116,663,290 (GRCm39)	I62M	probably benign	Het
Uck2	A	T	1: 167,062,280 (GRCm39)	D149E	probably benign	Het
Wnt5a	G	A	14: 28,233,882 (GRCm39)	A17T	probably benign	Het
Yif1b	T	C	7: 28,938,038 (GRCm39)		probably null	Het
Zbtb8a	T	C	4: 129,254,005 (GRCm39)	H163R	probably benign	Het
Zbtb8a	GG	GGATG	4: 129,253,812 (GRCm39)		probably benign	Het
Zkscan4	AGAGGAG	AGAG	13: 21,663,370 (GRCm39)		probably benign	Het
Zmym1	A	C	4: 126,943,466 (GRCm39)	H307Q	probably benign	Het
Zmym1	C	T	4: 126,941,740 (GRCm39)	D785N	probably benign	Het
Zmym1	C	T	4: 126,942,043 (GRCm39)	V684I	probably benign	Het

Other mutations in Pabpc1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Pabpc1l	APN	2	163,884,237 (GRCm39)	missense	probably damaging	1.00
IGL00911:Pabpc1l	APN	2	163,884,343 (GRCm39)	missense	probably damaging	1.00
IGL02096:Pabpc1l	APN	2	163,886,267 (GRCm39)	missense	probably benign	0.00
IGL02198:Pabpc1l	APN	2	163,869,536 (GRCm39)	missense	probably damaging	0.97
IGL02534:Pabpc1l	APN	2	163,869,410 (GRCm39)	missense	probably damaging	1.00
IGL02684:Pabpc1l	APN	2	163,873,197 (GRCm39)	missense	probably benign
R0371:Pabpc1l	UTSW	2	163,877,192 (GRCm39)	missense	probably benign	0.08
R0799:Pabpc1l	UTSW	2	163,873,134 (GRCm39)	missense	probably benign
R1202:Pabpc1l	UTSW	2	163,879,091 (GRCm39)	missense	possibly damaging	0.74
R1203:Pabpc1l	UTSW	2	163,879,091 (GRCm39)	missense	possibly damaging	0.74
R1548:Pabpc1l	UTSW	2	163,879,091 (GRCm39)	missense	possibly damaging	0.74
R1549:Pabpc1l	UTSW	2	163,879,091 (GRCm39)	missense	possibly damaging	0.74
R1687:Pabpc1l	UTSW	2	163,886,226 (GRCm39)	missense	probably benign	0.00
R1928:Pabpc1l	UTSW	2	163,874,174 (GRCm39)	missense	possibly damaging	0.70
R2698:Pabpc1l	UTSW	2	163,886,302 (GRCm39)	critical splice donor site	probably null
R3925:Pabpc1l	UTSW	2	163,869,596 (GRCm39)	splice site	probably benign
R3944:Pabpc1l	UTSW	2	163,884,247 (GRCm39)	missense	probably damaging	1.00
R4052:Pabpc1l	UTSW	2	163,885,533 (GRCm39)	missense	probably benign	0.20
R4793:Pabpc1l	UTSW	2	163,869,542 (GRCm39)	missense	possibly damaging	0.94
R5001:Pabpc1l	UTSW	2	163,884,438 (GRCm39)	missense	probably benign	0.00
R5104:Pabpc1l	UTSW	2	163,885,507 (GRCm39)	missense	probably benign	0.00
R5456:Pabpc1l	UTSW	2	163,869,580 (GRCm39)	missense	probably damaging	1.00
R5569:Pabpc1l	UTSW	2	163,885,474 (GRCm39)	missense	probably benign	0.00
R5853:Pabpc1l	UTSW	2	163,891,438 (GRCm39)	missense	probably benign	0.00
R5857:Pabpc1l	UTSW	2	163,886,175 (GRCm39)	splice site	probably null
R7107:Pabpc1l	UTSW	2	163,884,399 (GRCm39)	missense	probably damaging	0.99
R7650:Pabpc1l	UTSW	2	163,891,510 (GRCm39)	missense	probably benign	0.28
R8330:Pabpc1l	UTSW	2	163,869,568 (GRCm39)	missense	probably damaging	1.00
R8336:Pabpc1l	UTSW	2	163,874,204 (GRCm39)	missense	probably benign	0.07
R9179:Pabpc1l	UTSW	2	163,873,140 (GRCm39)	missense	probably damaging	0.96
R9355:Pabpc1l	UTSW	2	163,884,469 (GRCm39)	missense	probably benign	0.00
R9381:Pabpc1l	UTSW	2	163,867,423 (GRCm39)	missense	probably benign
Z1088:Pabpc1l	UTSW	2	163,874,244 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGTGCCACAAAGGCTCATGAAG -3'
(R):5'- TGGAGCTGTAGACACACTGTCACC -3'

Sequencing Primer
(F):5'- aggctcatgaagtgtgtgac -3'
(R):5'- TGTCACCTGGGGTACAGC -3'

Posted On

2013-09-03