Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03305:Cpeb1'

416371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpeb1

Ensembl Gene

ENSMUSG00000025586

Gene Name

cytoplasmic polyadenylation element binding protein 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03305

Quality Score

Status

Chromosome

Chromosomal Location

80996774-81105207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81011464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 159 (K159R)

Ref Sequence

ENSEMBL: ENSMUSP00000137079 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098331] [ENSMUST00000130310] [ENSMUST00000178892]

AlphaFold

P70166

Predicted Effect

probably benign
Transcript: ENSMUST00000098331
AA Change: K158R

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000095936
Gene: ENSMUSG00000025586
AA Change: K158R

Domain	Start	End	E-Value	Type
low complexity region	112	126	N/A	INTRINSIC
low complexity region	176	195	N/A	INTRINSIC
RRM	311	386	2.6e-4	SMART
RRM_2	430	506	2.7e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130310
AA Change: K153R

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120139
Gene: ENSMUSG00000025586
AA Change: K153R

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC
low complexity region	171	190	N/A	INTRINSIC
RRM	306	376	1.35e-1	SMART
RRM	420	496	6.36e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153419

Predicted Effect

probably benign
Transcript: ENSMUST00000178892
AA Change: K159R

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137079
Gene: ENSMUSG00000025586
AA Change: K159R

Domain	Start	End	E-Value	Type
Pfam:CEBP1_N	1	307	2.5e-153	PFAM
RRM	312	387	6.25e-2	SMART
RRM	431	507	6.36e-1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3' untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3' untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a null allele are viable and overtly normal but display a developmental arrest of both female and male germ cells at the pachytene stage, defective synaptonemal complex formation, and impaired neuronal synaptic plasticity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	T	A	8: 100,146,462 (GRCm39)		probably benign	Het
Akap3	G	A	6: 126,841,728 (GRCm39)	V116I	probably benign	Het
B4galt5	T	C	2: 167,147,703 (GRCm39)	D224G	probably damaging	Het
Bmpr1b	G	T	3: 141,548,785 (GRCm39)		probably benign	Het
Chmp2a	T	C	7: 12,766,082 (GRCm39)	K137E	possibly damaging	Het
Dhx36	G	A	3: 62,408,257 (GRCm39)	Q194*	probably null	Het
Gm4922	T	A	10: 18,659,232 (GRCm39)	K497*	probably null	Het
Grid1	A	G	14: 34,973,664 (GRCm39)	N247S	probably damaging	Het
Npy6r	A	G	18: 44,408,921 (GRCm39)	Y114C	probably damaging	Het
Ppl	A	G	16: 4,911,097 (GRCm39)	V785A	possibly damaging	Het
Tmprss11d	T	C	5: 86,474,279 (GRCm39)	H88R	probably damaging	Het
Wdr64	G	A	1: 175,583,152 (GRCm39)	V373M	possibly damaging	Het

Other mutations in Cpeb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Cpeb1	APN	7	81,021,929 (GRCm39)	missense	probably benign
IGL01598:Cpeb1	APN	7	81,011,549 (GRCm39)	missense	probably benign
IGL02214:Cpeb1	APN	7	81,021,805 (GRCm39)	missense	possibly damaging	0.89
IGL02527:Cpeb1	APN	7	81,009,635 (GRCm39)	missense	probably damaging	1.00
IGL02878:Cpeb1	APN	7	81,007,074 (GRCm39)	missense	probably damaging	1.00
IGL03065:Cpeb1	APN	7	81,086,038 (GRCm39)	missense	probably benign	0.39
PIT4458001:Cpeb1	UTSW	7	80,998,180 (GRCm39)	missense	probably damaging	1.00
R0391:Cpeb1	UTSW	7	81,011,473 (GRCm39)	missense	possibly damaging	0.89
R0711:Cpeb1	UTSW	7	81,001,618 (GRCm39)	missense	probably benign	0.01
R1626:Cpeb1	UTSW	7	81,085,995 (GRCm39)	missense	probably damaging	1.00
R1723:Cpeb1	UTSW	7	81,085,974 (GRCm39)	missense	probably benign	0.29
R1902:Cpeb1	UTSW	7	81,021,867 (GRCm39)	missense	probably benign	0.03
R4614:Cpeb1	UTSW	7	81,086,018 (GRCm39)	missense	possibly damaging	0.46
R4773:Cpeb1	UTSW	7	81,005,695 (GRCm39)	missense	probably benign
R5256:Cpeb1	UTSW	7	81,001,587 (GRCm39)	missense	probably damaging	1.00
R5750:Cpeb1	UTSW	7	81,086,099 (GRCm39)	missense	probably benign	0.01
R5927:Cpeb1	UTSW	7	81,011,428 (GRCm39)	missense	possibly damaging	0.69
R6000:Cpeb1	UTSW	7	81,011,428 (GRCm39)	missense	possibly damaging	0.69
R6526:Cpeb1	UTSW	7	81,011,417 (GRCm39)	missense	probably benign
R8150:Cpeb1	UTSW	7	81,007,152 (GRCm39)	missense	probably damaging	0.99
R9608:Cpeb1	UTSW	7	81,021,758 (GRCm39)	critical splice donor site	probably null
RF005:Cpeb1	UTSW	7	81,011,554 (GRCm39)	missense	possibly damaging	0.79
X0067:Cpeb1	UTSW	7	81,009,475 (GRCm39)	critical splice donor site	probably null
Z1176:Cpeb1	UTSW	7	81,009,476 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02