Incidental Mutation 'R5750:Cpeb1'
| ID |
445967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpeb1
|
| Ensembl Gene |
ENSMUSG00000025586 |
| Gene Name |
cytoplasmic polyadenylation element binding protein 1 |
| Synonyms |
|
| MMRRC Submission |
043356-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5750 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80996774-81105207 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81086099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 9
(D9E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098331]
[ENSMUST00000130310]
[ENSMUST00000178892]
|
| AlphaFold |
P70166 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098331
AA Change: D14E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000095936
Gene: ENSMUSG00000025586
AA Change: D14E
| 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 |
noncoding transcript
Transcript: ENSMUST00000124937
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130310
AA Change: D9E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000120139
Gene: ENSMUSG00000025586
AA Change: D9E
| 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 |
probably benign
Transcript: ENSMUST00000178892
AA Change: D14E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000137079
Gene: ENSMUSG00000025586
AA Change: D14E
| 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 |
|
| Meta Mutation Damage Score |
0.0706 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agmat |
G |
A |
4: 141,476,998 (GRCm39) |
V135I |
probably benign |
Het |
| Agr3 |
T |
C |
12: 35,996,941 (GRCm39) |
Y72H |
probably benign |
Het |
| Ankhd1 |
T |
A |
18: 36,757,955 (GRCm39) |
M883K |
probably benign |
Het |
| Creb3l1 |
C |
T |
2: 91,816,608 (GRCm39) |
V386M |
possibly damaging |
Het |
| Dnlz |
C |
T |
2: 26,241,423 (GRCm39) |
V102M |
probably damaging |
Het |
| Esp4 |
C |
T |
17: 40,913,286 (GRCm39) |
T51M |
probably benign |
Het |
| Fap |
C |
A |
2: 62,359,058 (GRCm39) |
C443F |
probably damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fpr1 |
T |
A |
17: 18,097,525 (GRCm39) |
I155F |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,669 (GRCm39) |
L336F |
probably benign |
Het |
| Gna15 |
G |
A |
10: 81,345,230 (GRCm39) |
Q212* |
probably null |
Het |
| Hk1 |
A |
G |
10: 62,110,245 (GRCm39) |
F785L |
possibly damaging |
Het |
| Ints8 |
T |
A |
4: 11,241,654 (GRCm39) |
Q263L |
possibly damaging |
Het |
| Itgax |
T |
C |
7: 127,743,878 (GRCm39) |
F880L |
probably benign |
Het |
| Kcnq4 |
A |
C |
4: 120,572,246 (GRCm39) |
V327G |
probably damaging |
Het |
| Kdm4a |
A |
G |
4: 117,999,396 (GRCm39) |
|
probably benign |
Het |
| Leng8 |
C |
T |
7: 4,145,119 (GRCm39) |
S173L |
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,348,923 (GRCm39) |
D2591N |
unknown |
Het |
| Macrod2 |
T |
A |
2: 141,357,240 (GRCm39) |
S179T |
probably benign |
Het |
| Map4k2 |
T |
A |
19: 6,401,367 (GRCm39) |
S612R |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,166,086 (GRCm39) |
|
probably benign |
Het |
| Micall2 |
C |
T |
5: 139,701,456 (GRCm39) |
|
probably null |
Het |
| Miga2 |
T |
A |
2: 30,261,577 (GRCm39) |
W191R |
probably damaging |
Het |
| Mterf1b |
T |
C |
5: 4,246,683 (GRCm39) |
I108T |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,082,254 (GRCm39) |
I1319V |
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,809,450 (GRCm39) |
E234G |
probably benign |
Het |
| Ncoa4 |
T |
A |
14: 31,899,264 (GRCm39) |
C602* |
probably null |
Het |
| Ntrk2 |
C |
A |
13: 58,956,736 (GRCm39) |
P65Q |
probably benign |
Het |
| Or52z15 |
G |
A |
7: 103,332,362 (GRCm39) |
V136I |
possibly damaging |
Het |
| Or6c215 |
C |
T |
10: 129,637,489 (GRCm39) |
V302M |
probably benign |
Het |
| P3h1 |
A |
T |
4: 119,095,863 (GRCm39) |
I324F |
probably damaging |
Het |
| Peli2 |
G |
T |
14: 48,493,632 (GRCm39) |
V285L |
possibly damaging |
Het |
| Qser1 |
A |
G |
2: 104,619,268 (GRCm39) |
S515P |
probably damaging |
Het |
| Rnf31 |
C |
T |
14: 55,836,143 (GRCm39) |
R721C |
probably damaging |
Het |
| Rps5 |
A |
G |
7: 12,659,334 (GRCm39) |
K42E |
probably damaging |
Het |
| Rufy4 |
A |
T |
1: 74,172,068 (GRCm39) |
T264S |
probably benign |
Het |
| Shq1 |
A |
T |
6: 100,588,775 (GRCm39) |
V259D |
possibly damaging |
Het |
| Slc22a3 |
T |
C |
17: 12,652,395 (GRCm39) |
I410V |
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,732,501 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,289,209 (GRCm39) |
H1430Q |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,623,642 (GRCm39) |
Q1421* |
probably null |
Het |
| Tmem126b |
A |
C |
7: 90,118,865 (GRCm39) |
V141G |
probably damaging |
Het |
| Trim52 |
C |
A |
14: 106,344,932 (GRCm39) |
Q197K |
probably benign |
Het |
| Tshz1 |
A |
G |
18: 84,032,086 (GRCm39) |
L774P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,602,031 (GRCm39) |
S10217G |
possibly damaging |
Het |
| Unc45a |
A |
G |
7: 79,984,571 (GRCm39) |
V228A |
probably benign |
Het |
| Unc93a2 |
C |
T |
17: 7,637,130 (GRCm39) |
V133I |
probably benign |
Het |
| Vwa2 |
G |
T |
19: 56,897,663 (GRCm39) |
G656V |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,529,556 (GRCm39) |
|
probably null |
Het |
| Zeb2 |
T |
A |
2: 44,887,530 (GRCm39) |
Q494L |
probably 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 |
|
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 |
|
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'- GTTCTGTACAAGCCCTGTGC -3'
(R):5'- ATGTGCTGCTAGACTAGGAGG -3'
Sequencing Primer
(F):5'- TGTACAAGCCCTGTGCATCCG -3'
(R):5'- CTGCTAGACTAGGAGGTTCTTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation