Mutagenetix > Incidental Mutation

Incidental Mutation 'R0799:Pabpc1l'

76513

Institutional Source

Beutler Lab

Gene Symbol

Pabpc1l

Ensembl Gene

ENSMUSG00000054582

Gene Name

poly(A) binding protein, cytoplasmic 1-like

Synonyms

1810053B01Rik, ePAB

MMRRC Submission

038979-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0799 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

163867370-163892458 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 163873134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 135 (H135N)

Ref Sequence

ENSEMBL: ENSMUSP00000096701 (fasta)

Gene Model

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

AlphaFold

A2A5N3

Predicted Effect

probably benign
Transcript: ENSMUST00000067715
AA Change: H135N

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

SMART Domains

Protein: ENSMUSP00000096701
Gene: ENSMUSG00000054582
AA Change: H135N

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: ENSMUST00000141671

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	G	A	4: 103,100,101 (GRCm39)	T33I	possibly damaging	Het
4930555F03Rik	A	G	8: 49,948,474 (GRCm39)		noncoding transcript	Het
Abcf3	T	C	16: 20,378,084 (GRCm39)	L538P	probably damaging	Het
Adamts6	T	C	13: 104,450,779 (GRCm39)	S321P	probably damaging	Het
Adgra2	G	A	8: 27,602,523 (GRCm39)	R362H	probably damaging	Het
AI597479	T	G	1: 43,150,330 (GRCm39)	S147A	probably benign	Het
Ajm1	A	G	2: 25,468,574 (GRCm39)	S446P	possibly damaging	Het
Ampd3	T	C	7: 110,399,904 (GRCm39)	F340L	probably damaging	Het
Atad3a	A	G	4: 155,831,927 (GRCm39)	V449A	probably damaging	Het
Bmal2	T	C	6: 146,724,751 (GRCm39)		probably benign	Het
Bpifa6	A	T	2: 153,834,192 (GRCm39)	D328V	probably benign	Het
Brca2	T	C	5: 150,483,658 (GRCm39)	S2903P	probably damaging	Het
Cct3	A	T	3: 88,206,652 (GRCm39)		probably null	Het
Cdk4	A	G	10: 126,900,863 (GRCm39)	T172A	probably damaging	Het
Chd5	A	G	4: 152,468,616 (GRCm39)	D1760G	probably damaging	Het
Chd7	A	G	4: 8,801,310 (GRCm39)		probably benign	Het
Crybb2	T	C	5: 113,210,037 (GRCm39)	I109V	probably benign	Het
Csmd3	A	G	15: 48,048,780 (GRCm39)		probably benign	Het
Dach1	G	T	14: 98,406,051 (GRCm39)	T232K	possibly damaging	Het
Dnlz	A	G	2: 26,241,485 (GRCm39)	V81A	possibly damaging	Het
Epb41l4b	A	G	4: 57,086,003 (GRCm39)	S191P	probably damaging	Het
Eps15l1	C	T	8: 73,099,929 (GRCm39)	D821N	probably damaging	Het
Fam186a	G	A	15: 99,839,893 (GRCm39)	P2117L	probably damaging	Het
Fam83d	T	A	2: 158,621,808 (GRCm39)	F173Y	probably damaging	Het
Gm9116	A	T	3: 93,817,772 (GRCm39)	R214S	probably benign	Het
Gtpbp1	A	G	15: 79,600,401 (GRCm39)	I445V	probably damaging	Het
H2-M2	G	A	17: 37,793,640 (GRCm39)	T122I	probably damaging	Het
Hgd	C	T	16: 37,448,971 (GRCm39)		probably benign	Het
Hip1r	A	G	5: 124,135,004 (GRCm39)	Y380C	probably benign	Het
Hspa8	G	A	9: 40,715,137 (GRCm39)	G389R	probably damaging	Het
Htt	C	A	5: 34,975,097 (GRCm39)	D622E	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kdm4a	A	G	4: 118,004,189 (GRCm39)		probably null	Het
Map3k9	G	A	12: 81,769,043 (GRCm39)	P1025S	probably benign	Het
Or8b47	G	A	9: 38,435,437 (GRCm39)	M136I	probably benign	Het
Pacsin2	A	T	15: 83,263,998 (GRCm39)	S346R	probably benign	Het
Pcdhb20	A	G	18: 37,638,938 (GRCm39)	Y488C	probably damaging	Het
Pkdcc	G	A	17: 83,531,347 (GRCm39)	C452Y	probably damaging	Het
Poglut1	T	C	16: 38,355,083 (GRCm39)		probably null	Het
Prss59	A	G	6: 40,905,533 (GRCm39)	M41T	probably damaging	Het
Pxk	T	C	14: 8,148,123 (GRCm38)	F409L	probably benign	Het
Pygm	G	A	19: 6,436,048 (GRCm39)		probably benign	Het
Rabep2	T	C	7: 126,037,896 (GRCm39)	S223P	probably damaging	Het
Rpp40	C	T	13: 36,086,034 (GRCm39)	R109H	probably benign	Het
Sbf2	T	C	7: 109,940,562 (GRCm39)	Y1266C	possibly damaging	Het
Slc5a4a	T	C	10: 76,012,368 (GRCm39)	V346A	probably benign	Het
Smpd3	G	T	8: 106,991,421 (GRCm39)	H377Q	possibly damaging	Het
Sppl2a	C	A	2: 126,762,227 (GRCm39)		probably benign	Het
Tas2r134	T	C	2: 51,518,385 (GRCm39)	I288T	probably benign	Het
Trim35	T	A	14: 66,546,650 (GRCm39)	H472Q	probably damaging	Het
Trpm5	C	A	7: 142,632,088 (GRCm39)	R907L	probably damaging	Het
Ube2e2	G	T	14: 18,630,393 (GRCm38)	S56*	probably null	Het
Vmn2r88	A	C	14: 51,651,959 (GRCm39)	R432S	possibly damaging	Het
Wdr24	A	G	17: 26,045,102 (GRCm39)	Y279C	probably damaging	Het
Wdr90	A	G	17: 26,079,104 (GRCm39)	V246A	probably benign	Het
Xrn2	T	A	2: 146,871,818 (GRCm39)	N385K	probably benign	Het
Zfp28	T	A	7: 6,387,182 (GRCm39)	S73T	possibly damaging	Het
Zfp345	T	C	2: 150,314,271 (GRCm39)	E422G	probably benign	Het
Zhx2	A	G	15: 57,684,709 (GRCm39)	E26G	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
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
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'- GCTGTCACCTCAAGCAAGTAGACTG -3'
(R):5'- CCTAAGGTTACACACCAAGGAAGGC -3'

Sequencing Primer
(F):5'- CTCAAGCAAGTAGACTGGCTTTTC -3'
(R):5'- GCCTGCCGACCACTAGAC -3'

Posted On

2013-10-16