Incidental Mutation 'PIT4458001:Cpeb1'
| ID |
555912 |
| Institutional Source |
Beutler Lab
|
| 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)
|
| Stock # |
PIT4458001 (G1)
|
| Quality Score |
151.008 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80996774-81105207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80998180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 533
(F533Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137079
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080813]
[ENSMUST00000098331]
[ENSMUST00000130310]
[ENSMUST00000178892]
|
| AlphaFold |
P70166 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080813
|
| SMART Domains |
Protein: ENSMUSP00000079628
Gene: ENSMUSG00000061787
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_S17e
|
1 |
119 |
9.7e-74 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098331
AA Change: F532Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095936
Gene: ENSMUSG00000025586
AA Change: F532Y
| 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 damaging
Transcript: ENSMUST00000130310
AA Change: F522Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120139
Gene: ENSMUSG00000025586
AA Change: F522Y
| 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 |
probably damaging
Transcript: ENSMUST00000178892
AA Change: F533Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137079
Gene: ENSMUSG00000025586
AA Change: F533Y
| 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 |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.3%
- 20x: 73.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,248,304 (GRCm39) |
V2684L |
probably benign |
Het |
| Adamts9 |
T |
A |
6: 92,866,886 (GRCm39) |
I718F |
probably damaging |
Het |
| Adcyap1r1 |
A |
G |
6: 55,455,067 (GRCm39) |
D110G |
probably benign |
Het |
| Adgrd1 |
G |
A |
5: 129,208,641 (GRCm39) |
G281D |
probably damaging |
Het |
| Afg1l |
A |
T |
10: 42,330,366 (GRCm39) |
C100* |
probably null |
Het |
| Atp2a2 |
G |
A |
5: 122,595,372 (GRCm39) |
Q993* |
probably null |
Het |
| Baz1a |
A |
G |
12: 54,977,095 (GRCm39) |
M389T |
probably benign |
Het |
| Btnl4 |
T |
A |
17: 34,693,242 (GRCm39) |
M58L |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ctnna1 |
T |
A |
18: 35,308,179 (GRCm39) |
N166K |
possibly damaging |
Het |
| Ecsit |
T |
C |
9: 21,987,580 (GRCm39) |
H153R |
probably damaging |
Het |
| Gbp8 |
T |
C |
5: 105,162,955 (GRCm39) |
K480E |
probably benign |
Het |
| Glyat |
A |
T |
19: 12,625,373 (GRCm39) |
T66S |
probably benign |
Het |
| Gm1110 |
T |
C |
9: 26,792,124 (GRCm39) |
Q632R |
probably benign |
Het |
| Gm12185 |
C |
T |
11: 48,798,738 (GRCm39) |
R585Q |
probably damaging |
Het |
| Gm17669 |
TAA |
TAAA |
18: 67,695,819 (GRCm39) |
|
probably null |
Het |
| Gm7489 |
A |
C |
15: 53,749,195 (GRCm39) |
E89A |
unknown |
Het |
| Grb7 |
C |
T |
11: 98,344,655 (GRCm39) |
Q353* |
probably null |
Het |
| Ifi207 |
G |
A |
1: 173,562,738 (GRCm39) |
T136I |
unknown |
Het |
| Ighv3-1 |
T |
C |
12: 113,928,224 (GRCm39) |
Y45C |
probably benign |
Het |
| Ing5 |
A |
G |
1: 93,739,668 (GRCm39) |
M92V |
possibly damaging |
Het |
| Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
| Kdm6b |
A |
T |
11: 69,290,778 (GRCm39) |
D1630E |
unknown |
Het |
| Lmo7 |
C |
T |
14: 102,124,923 (GRCm39) |
Q583* |
probably null |
Het |
| Lrrc37a |
T |
C |
11: 103,395,338 (GRCm39) |
D29G |
probably benign |
Het |
| Mpdz |
G |
T |
4: 81,337,263 (GRCm39) |
A10D |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,131,821 (GRCm39) |
M94V |
possibly damaging |
Het |
| Nectin2 |
A |
C |
7: 19,472,252 (GRCm39) |
L46V |
probably benign |
Het |
| Nynrin |
A |
T |
14: 56,101,425 (GRCm39) |
T365S |
probably benign |
Het |
| Or4c120 |
A |
T |
2: 89,000,977 (GRCm39) |
I193K |
probably benign |
Het |
| Pde4b |
A |
C |
4: 102,459,875 (GRCm39) |
E570A |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,855,622 (GRCm39) |
H988R |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,763,708 (GRCm39) |
K1234E |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,957,741 (GRCm39) |
M233K |
probably benign |
Het |
| Prp2 |
C |
T |
6: 132,577,510 (GRCm39) |
P266S |
unknown |
Het |
| Ralgds |
T |
C |
2: 28,432,486 (GRCm39) |
L160P |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,375,237 (GRCm39) |
M664K |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,570,334 (GRCm39) |
T4930A |
probably benign |
Het |
| Senp8 |
T |
C |
9: 59,644,763 (GRCm39) |
Y131C |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,635,837 (GRCm39) |
I547M |
probably benign |
Het |
| Spata20 |
A |
G |
11: 94,375,434 (GRCm39) |
M120T |
probably damaging |
Het |
| Spata31 |
A |
G |
13: 65,069,664 (GRCm39) |
H604R |
probably benign |
Het |
| Sycp1 |
A |
T |
3: 102,842,149 (GRCm39) |
S53T |
probably benign |
Het |
| Tgm1 |
T |
C |
14: 55,950,022 (GRCm39) |
D62G |
unknown |
Het |
| Trpm1 |
G |
C |
7: 63,918,309 (GRCm39) |
E1434Q |
possibly damaging |
Het |
| Tshb |
A |
T |
3: 102,685,480 (GRCm39) |
Y50N |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,126,614 (GRCm39) |
Y413* |
probably null |
Het |
| Zdhhc16 |
G |
A |
19: 41,926,209 (GRCm39) |
G55R |
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 |
|
IGL03305:Cpeb1
|
APN |
7 |
81,011,464 (GRCm39) |
missense |
probably benign |
0.16 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCCTTGTCTGCGCAAAG -3'
(R):5'- TGGGAAGCTACAAGGTCTCAC -3'
Sequencing Primer
(F):5'- AAAGCTAGCTCCCATGGCG -3'
(R):5'- GGAAGCTACAAGGTCTCACATGTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation