Incidental Mutation 'R5851:Celf3'
| ID |
454656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Celf3
|
| Ensembl Gene |
ENSMUSG00000028137 |
| Gene Name |
CUGBP, Elav-like family member 3 |
| Synonyms |
BRUNOL1, Tnrc4, CAGH4, ERDA4, 4930415M08Rik |
| MMRRC Submission |
044067-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R5851 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94385602-94399505 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 94386433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 7
(I7N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029784]
[ENSMUST00000197558]
[ENSMUST00000198316]
[ENSMUST00000199775]
[ENSMUST00000200342]
[ENSMUST00000199884]
|
| AlphaFold |
Q8CIN6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029784
AA Change: I7N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029784
Gene: ENSMUSG00000028137
AA Change: I7N
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
84 |
4.32e-19 |
SMART |
|
RRM
|
95 |
170 |
2.02e-19 |
SMART |
|
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
373 |
N/A |
INTRINSIC |
|
RRM
|
381 |
454 |
8.83e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197558
|
| SMART Domains |
Protein: ENSMUSP00000143733
Gene: ENSMUSG00000028137
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
19 |
94 |
8.9e-22 |
SMART |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
199 |
N/A |
INTRINSIC |
|
RRM
|
286 |
359 |
3.7e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197699
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198067
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198316
|
| SMART Domains |
Protein: ENSMUSP00000142412
Gene: ENSMUSG00000028137
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
19 |
94 |
8.7e-22 |
SMART |
|
low complexity region
|
132 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
297 |
N/A |
INTRINSIC |
|
RRM
|
305 |
378 |
3.6e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199159
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199775
AA Change: I7N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143532
Gene: ENSMUSG00000028137
AA Change: I7N
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
84 |
1.9e-21 |
SMART |
|
RRM
|
96 |
171 |
8.9e-22 |
SMART |
|
low complexity region
|
209 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
324 |
N/A |
INTRINSIC |
|
RRM
|
332 |
405 |
3.7e-27 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200342
AA Change: I7N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143344
Gene: ENSMUSG00000028137
AA Change: I7N
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
84 |
4.32e-19 |
SMART |
|
RRM
|
96 |
171 |
2.02e-19 |
SMART |
|
low complexity region
|
209 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
402 |
N/A |
INTRINSIC |
|
RRM
|
410 |
483 |
8.83e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199884
|
| Meta Mutation Damage Score |
0.8299 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (75/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Male mice homozygous for a null mutation display reduced sperm counts and motility but are fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,332,322 (GRCm39) |
N1452D |
possibly damaging |
Het |
| Abhd15 |
T |
C |
11: 77,409,273 (GRCm39) |
L329P |
probably benign |
Het |
| Add3 |
T |
C |
19: 53,225,205 (GRCm39) |
S442P |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,484,980 (GRCm39) |
F228L |
probably damaging |
Het |
| Bptf |
A |
T |
11: 107,001,688 (GRCm39) |
Y475N |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,518,612 (GRCm39) |
N1257S |
probably null |
Het |
| Cdkl1 |
A |
T |
12: 69,803,338 (GRCm39) |
Y179* |
probably null |
Het |
| Ceacam1 |
T |
C |
7: 25,174,025 (GRCm39) |
N210S |
possibly damaging |
Het |
| Clxn |
T |
A |
16: 14,738,300 (GRCm39) |
L155H |
probably damaging |
Het |
| Cmpk1 |
A |
G |
4: 114,844,167 (GRCm39) |
V55A |
possibly damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,802,144 (GRCm39) |
G305D |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,638,585 (GRCm39) |
S1266P |
possibly damaging |
Het |
| Edc4 |
T |
C |
8: 106,617,499 (GRCm39) |
L1077P |
probably damaging |
Het |
| Fam174a |
G |
A |
1: 95,252,868 (GRCm39) |
G157S |
probably damaging |
Het |
| Fubp3 |
T |
A |
2: 31,488,622 (GRCm39) |
D159E |
probably benign |
Het |
| Garem2 |
C |
T |
5: 30,319,288 (GRCm39) |
T250M |
probably damaging |
Het |
| H2-Eb1 |
C |
T |
17: 34,528,745 (GRCm39) |
P92L |
probably benign |
Het |
| Ifnl3 |
G |
T |
7: 28,222,936 (GRCm39) |
C69F |
probably damaging |
Het |
| Itga2b |
C |
A |
11: 102,348,427 (GRCm39) |
|
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,130,335 (GRCm39) |
D386E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Loricrin |
G |
A |
3: 91,987,846 (GRCm39) |
A480V |
unknown |
Het |
| Msh3 |
G |
T |
13: 92,352,030 (GRCm39) |
Q1041K |
probably benign |
Het |
| Mtrex |
G |
A |
13: 113,045,486 (GRCm39) |
R349W |
probably damaging |
Het |
| Myo1e |
G |
A |
9: 70,291,086 (GRCm39) |
G959E |
probably benign |
Het |
| Nfat5 |
G |
T |
8: 108,074,359 (GRCm39) |
V338L |
probably damaging |
Het |
| Nrf1 |
A |
G |
6: 30,089,975 (GRCm39) |
H18R |
possibly damaging |
Het |
| Nup160 |
A |
G |
2: 90,537,382 (GRCm39) |
D752G |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,885,526 (GRCm39) |
L2489* |
probably null |
Het |
| Or4p22 |
A |
G |
2: 88,317,204 (GRCm39) |
I43V |
possibly damaging |
Het |
| Or51q1c |
A |
G |
7: 103,652,659 (GRCm39) |
E59G |
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,577,301 (GRCm39) |
S215P |
possibly damaging |
Het |
| Pate2 |
T |
A |
9: 35,581,797 (GRCm39) |
Y26* |
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,545,811 (GRCm39) |
I296V |
probably benign |
Het |
| Pdzph1 |
T |
G |
17: 59,280,741 (GRCm39) |
T514P |
probably benign |
Het |
| Pnlip |
G |
A |
19: 58,662,224 (GRCm39) |
W123* |
probably null |
Het |
| Prmt2 |
C |
A |
10: 76,072,574 (GRCm39) |
C9F |
possibly damaging |
Het |
| Rbl1 |
T |
A |
2: 157,009,245 (GRCm39) |
K763N |
probably benign |
Het |
| Rfk |
C |
T |
19: 17,372,562 (GRCm39) |
A28V |
probably damaging |
Het |
| Scart1 |
C |
T |
7: 139,807,940 (GRCm39) |
P704S |
possibly damaging |
Het |
| Sdk1 |
G |
A |
5: 141,948,424 (GRCm39) |
V590I |
probably benign |
Het |
| Sele |
A |
G |
1: 163,877,143 (GRCm39) |
K140E |
probably benign |
Het |
| Sla |
G |
A |
15: 66,655,572 (GRCm39) |
T189I |
probably damaging |
Het |
| Slc46a2 |
A |
G |
4: 59,913,906 (GRCm39) |
V339A |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,742,797 (GRCm39) |
F432L |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,839,859 (GRCm39) |
F141S |
possibly damaging |
Het |
| Tas2r123 |
T |
C |
6: 132,824,271 (GRCm39) |
L56S |
probably damaging |
Het |
| Tektip1 |
A |
T |
10: 81,200,711 (GRCm39) |
|
probably null |
Het |
| Tmem245 |
T |
C |
4: 56,916,770 (GRCm39) |
I53V |
probably benign |
Het |
| Tor2a |
A |
T |
2: 32,651,619 (GRCm39) |
Q278L |
probably benign |
Het |
| Trav6-3 |
A |
G |
14: 53,667,572 (GRCm39) |
M15V |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,383,335 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
G |
A |
4: 41,206,268 (GRCm39) |
Q534* |
probably null |
Het |
| Yju2 |
C |
T |
17: 56,274,582 (GRCm39) |
S298F |
probably damaging |
Het |
| Zfp954 |
C |
A |
7: 7,118,624 (GRCm39) |
E307* |
probably null |
Het |
| Zscan21 |
A |
G |
5: 138,124,740 (GRCm39) |
K219E |
probably benign |
Het |
|
| Other mutations in Celf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01348:Celf3
|
APN |
3 |
94,395,535 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02103:Celf3
|
APN |
3 |
94,394,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03007:Celf3
|
APN |
3 |
94,394,444 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0180:Celf3
|
UTSW |
3 |
94,392,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0670:Celf3
|
UTSW |
3 |
94,395,537 (GRCm39) |
small deletion |
probably benign |
|
|
R1965:Celf3
|
UTSW |
3 |
94,392,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Celf3
|
UTSW |
3 |
94,387,566 (GRCm39) |
splice site |
probably null |
|
|
R2566:Celf3
|
UTSW |
3 |
94,395,537 (GRCm39) |
small deletion |
probably benign |
|
|
R3546:Celf3
|
UTSW |
3 |
94,395,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3547:Celf3
|
UTSW |
3 |
94,395,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3548:Celf3
|
UTSW |
3 |
94,395,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4015:Celf3
|
UTSW |
3 |
94,394,505 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4471:Celf3
|
UTSW |
3 |
94,395,585 (GRCm39) |
splice site |
probably null |
|
|
R4698:Celf3
|
UTSW |
3 |
94,392,174 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4816:Celf3
|
UTSW |
3 |
94,386,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Celf3
|
UTSW |
3 |
94,395,537 (GRCm39) |
small deletion |
probably benign |
|
|
R6277:Celf3
|
UTSW |
3 |
94,392,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6400:Celf3
|
UTSW |
3 |
94,387,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Celf3
|
UTSW |
3 |
94,395,024 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7357:Celf3
|
UTSW |
3 |
94,387,637 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7556:Celf3
|
UTSW |
3 |
94,387,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8141:Celf3
|
UTSW |
3 |
94,395,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Celf3
|
UTSW |
3 |
94,386,489 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8978:Celf3
|
UTSW |
3 |
94,392,667 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9255:Celf3
|
UTSW |
3 |
94,392,594 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9636:Celf3
|
UTSW |
3 |
94,394,580 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGTGTGAAGAGCCCTCC -3'
(R):5'- TCCAAATCAGCCCTTTCCAG -3'
Sequencing Primer
(F):5'- AGCCCTCCTCTGCTCAG -3'
(R):5'- CATCCTTCTTGCCTAGCAGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation