Mutagenetix > Incidental Mutation

Incidental Mutation 'R2698:Pabpc1l'

251282

Institutional Source

Beutler Lab

Gene Symbol

Pabpc1l

Ensembl Gene

ENSMUSG00000054582

Gene Name

poly(A) binding protein, cytoplasmic 1-like

Synonyms

1810053B01Rik, ePAB

MMRRC Submission

040436-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2698 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163867370-163892458 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 163886302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096701 (fasta)

Gene Model

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

AlphaFold

A2A5N3

Predicted Effect

probably null
Transcript: ENSMUST00000067715

SMART Domains

Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582

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

probably null
Transcript: ENSMUST00000067715

SMART Domains

Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582

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

probably null
Transcript: ENSMUST00000067715

SMART Domains

Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582

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: ENSMUST00000150523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156087

Meta Mutation Damage Score

0.9497

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,578,862 (GRCm39)	R901G	possibly damaging	Het
Abhd18	T	A	3: 40,885,401 (GRCm39)	M262K	probably benign	Het
Ano2	C	A	6: 125,689,309 (GRCm39)	L145I	probably benign	Het
Ckap5	T	C	2: 91,408,426 (GRCm39)	W874R	probably damaging	Het
Cox4i1	G	T	8: 121,396,102 (GRCm39)		probably benign	Het
Cwc27	A	T	13: 104,943,259 (GRCm39)	N94K	probably damaging	Het
Dcaf11	T	C	14: 55,804,342 (GRCm39)	S372P	probably damaging	Het
Dpysl4	A	G	7: 138,676,681 (GRCm39)	N356S	probably damaging	Het
Dusp8	A	G	7: 141,635,701 (GRCm39)		probably benign	Het
Erc2	G	A	14: 27,993,662 (GRCm39)	V894M	probably benign	Het
Fbxo28	T	A	1: 182,144,719 (GRCm39)	I282F	probably benign	Het
Fsd2	T	C	7: 81,195,608 (GRCm39)	T434A	probably damaging	Het
Gabra4	T	C	5: 71,729,421 (GRCm39)	H453R	probably benign	Het
Glrx	T	A	13: 75,988,065 (GRCm39)		probably null	Het
Gm11541	A	T	11: 94,586,441 (GRCm39)	L102*	probably null	Het
Gm5113	T	A	7: 29,878,150 (GRCm39)	Y79*	probably null	Het
Gpr87	T	A	3: 59,086,587 (GRCm39)	N306I	probably damaging	Het
Hydin	T	A	8: 111,336,561 (GRCm39)	Y5113N	possibly damaging	Het
Iqsec3	C	T	6: 121,390,430 (GRCm39)		probably benign	Het
Kbtbd8	C	A	6: 95,103,570 (GRCm39)	Y406*	probably null	Het
Lamb1	G	T	12: 31,348,882 (GRCm39)	R590L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lnpk	T	C	2: 74,367,845 (GRCm39)	E165G	probably damaging	Het
Lrp4	C	T	2: 91,305,557 (GRCm39)	R276C	probably damaging	Het
Lrrc7	T	A	3: 157,841,028 (GRCm39)	T1384S	probably benign	Het
Mia2	T	C	12: 59,217,780 (GRCm39)		probably null	Het
Morc2a	T	C	11: 3,635,400 (GRCm39)	V797A	probably damaging	Het
Mrps23	T	C	11: 88,096,193 (GRCm39)		probably benign	Het
Muc17	A	T	5: 137,175,484 (GRCm39)	I62K	probably damaging	Het
Nlrp4g	T	A	9: 124,349,630 (GRCm38)		noncoding transcript	Het
Nptx1	A	T	11: 119,435,669 (GRCm39)		probably benign	Het
Or1j20	T	A	2: 36,760,208 (GRCm39)	I210K	possibly damaging	Het
Pdcd6ip	A	T	9: 113,503,575 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Plcxd1	A	G	5: 110,250,349 (GRCm39)	Q230R	probably benign	Het
Psme4	T	A	11: 30,824,282 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptch1	T	A	13: 63,690,038 (GRCm39)	N320Y	probably damaging	Het
Qars1	G	A	9: 108,385,642 (GRCm39)	V60I	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rhag	T	C	17: 41,147,367 (GRCm39)	S410P	probably damaging	Het
Rnf213	A	G	11: 119,300,970 (GRCm39)	K297E	probably benign	Het
Rps6ka4	T	C	19: 6,814,720 (GRCm39)	E294G	probably benign	Het
Scaf4	T	A	16: 90,041,244 (GRCm39)	I695F	unknown	Het
Scrn2	T	C	11: 96,923,122 (GRCm39)		probably benign	Het
Scx	T	A	15: 76,342,363 (GRCm39)	C188S	probably damaging	Het
Sdk1	G	T	5: 142,197,805 (GRCm39)	V1893L	possibly damaging	Het
Sema5a	C	A	15: 32,673,546 (GRCm39)	Q795K	probably damaging	Het
Slc24a3	A	G	2: 145,455,487 (GRCm39)	S459G	probably benign	Het
Smurf1	A	G	5: 144,820,372 (GRCm39)		probably benign	Het
Taar4	T	C	10: 23,837,328 (GRCm39)	Y313H	probably damaging	Het
Tmprss11c	A	G	5: 86,419,322 (GRCm39)	F79S	probably damaging	Het
Tnfaip8l2	T	A	3: 95,047,672 (GRCm39)	I64F	possibly damaging	Het
Trbv13-1	A	G	6: 41,093,372 (GRCm39)	T102A	probably damaging	Het
Trpa1	A	T	1: 14,976,222 (GRCm39)	N160K	probably damaging	Het
Ttc22	A	G	4: 106,496,435 (GRCm39)	Y495C	probably benign	Het
Usp50	A	G	2: 126,619,949 (GRCm39)	I121T	probably damaging	Het
Vmn2r117	A	G	17: 23,678,885 (GRCm39)	S780P	probably damaging	Het
Vmn2r66	A	T	7: 84,644,607 (GRCm39)	V601D	probably damaging	Het
Wapl	G	A	14: 34,413,734 (GRCm39)	A199T	probably benign	Het
Zfp658	A	G	7: 43,222,969 (GRCm39)	T415A	possibly damaging	Het
Zfp760	C	T	17: 21,939,935 (GRCm39)	T9I	probably damaging	Het
Zfp998	A	G	13: 66,581,495 (GRCm39)	S59P	probably damaging	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
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
T0722:Pabpc1l	UTSW	2	163,884,340 (GRCm39)	missense	possibly damaging	0.89
Z1088:Pabpc1l	UTSW	2	163,874,244 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GTGTGTGAATTTCTAGCTCATCTCC -3'
(R):5'- CTGGATGCCATGCTAACGTTTATG -3'

Sequencing Primer
(F):5'- CTTAGGACACAGTGTAGCACTTTG -3'
(R):5'- TTATGTTAACGGACATCCTCCAAAGC -3'

Posted On

2014-12-04