Incidental Mutation 'IGL02199:Celf5'
| ID |
284220 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Celf5
|
| Ensembl Gene |
ENSMUSG00000034818 |
| Gene Name |
CUGBP, Elav-like family member 5 |
| Synonyms |
4930565A21Rik, Brunol5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
IGL02199
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81295061-81318543 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 81318318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 41
(D41V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020463]
[ENSMUST00000118498]
[ENSMUST00000118763]
[ENSMUST00000120508]
[ENSMUST00000124437]
|
| AlphaFold |
A0A5F8MPH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020463
|
| SMART Domains |
Protein: ENSMUSP00000020463
Gene: ENSMUSG00000020238
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
172 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M28
|
205 |
421 |
1.8e-13 |
PFAM |
|
Pfam:Nicastrin
|
217 |
411 |
2.1e-9 |
PFAM |
|
transmembrane domain
|
521 |
543 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118498
|
| SMART Domains |
Protein: ENSMUSP00000112744
Gene: ENSMUSG00000020238
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
172 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M28
|
217 |
395 |
3.9e-12 |
PFAM |
|
Pfam:Nicastrin
|
217 |
411 |
1.5e-10 |
PFAM |
|
transmembrane domain
|
520 |
542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118763
AA Change: D41V
PolyPhen 2
Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113675
Gene: ENSMUSG00000034818
AA Change: D41V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
84 |
7.41e-18 |
SMART |
|
RRM
|
97 |
172 |
3.23e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120508
AA Change: D41V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000113592
Gene: ENSMUSG00000034818
AA Change: D41V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
84 |
7.41e-18 |
SMART |
|
RRM
|
96 |
171 |
3.23e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124437
|
| SMART Domains |
Protein: ENSMUSP00000115235
Gene: ENSMUSG00000020238
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151701
|
| 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 the CELF/BRUNOL protein family, which 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. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Aspg |
T |
C |
12: 112,087,426 (GRCm39) |
V294A |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,907,957 (GRCm39) |
|
probably benign |
Het |
| Clcn3 |
T |
A |
8: 61,386,126 (GRCm39) |
K282* |
probably null |
Het |
| Clcn3 |
T |
A |
8: 61,380,308 (GRCm39) |
T543S |
possibly damaging |
Het |
| Ctsj |
T |
A |
13: 61,150,351 (GRCm39) |
N216I |
probably damaging |
Het |
| Dusp28 |
A |
G |
1: 92,835,280 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
A |
G |
13: 63,015,193 (GRCm39) |
I262T |
probably damaging |
Het |
| Gata4 |
A |
G |
14: 63,437,912 (GRCm39) |
V413A |
possibly damaging |
Het |
| Glb1 |
A |
G |
9: 114,303,015 (GRCm39) |
N617S |
probably benign |
Het |
| Gm454 |
T |
A |
5: 138,202,285 (GRCm39) |
|
noncoding transcript |
Het |
| Hesx1 |
A |
G |
14: 26,723,481 (GRCm39) |
S104G |
probably benign |
Het |
| Igf2bp3 |
T |
C |
6: 49,065,458 (GRCm39) |
N478S |
probably benign |
Het |
| Klrk1 |
T |
C |
6: 129,598,207 (GRCm39) |
|
probably null |
Het |
| Lamb2 |
A |
G |
9: 108,357,824 (GRCm39) |
T116A |
possibly damaging |
Het |
| Mbd2 |
T |
C |
18: 70,726,371 (GRCm39) |
V270A |
probably damaging |
Het |
| Meis2 |
C |
T |
2: 115,830,737 (GRCm39) |
V259I |
probably benign |
Het |
| Mtcl2 |
A |
T |
2: 156,872,865 (GRCm39) |
L882Q |
probably damaging |
Het |
| Ngly1 |
T |
A |
14: 16,290,844 (GRCm38) |
I442K |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 90,344,686 (GRCm39) |
L409P |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,926,775 (GRCm39) |
V1175I |
possibly damaging |
Het |
| Parp12 |
C |
T |
6: 39,073,524 (GRCm39) |
A434T |
probably benign |
Het |
| Prrt3 |
G |
A |
6: 113,471,770 (GRCm39) |
P801S |
probably damaging |
Het |
| Rps6ka2 |
G |
T |
17: 7,521,852 (GRCm39) |
|
probably benign |
Het |
| Slc18a1 |
C |
A |
8: 69,496,632 (GRCm39) |
V344L |
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,890,034 (GRCm39) |
T2103S |
probably damaging |
Het |
| Stoml2 |
A |
G |
4: 43,029,366 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
G |
12: 91,505,057 (GRCm39) |
L73R |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,080,779 (GRCm39) |
Q786* |
probably null |
Het |
|
| Other mutations in Celf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01295:Celf5
|
APN |
10 |
81,302,914 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02193:Celf5
|
APN |
10 |
81,306,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0012:Celf5
|
UTSW |
10 |
81,305,346 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0207:Celf5
|
UTSW |
10 |
81,306,532 (GRCm39) |
missense |
probably null |
1.00 |
|
R0242:Celf5
|
UTSW |
10 |
81,300,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Celf5
|
UTSW |
10 |
81,300,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0607:Celf5
|
UTSW |
10 |
81,301,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1165:Celf5
|
UTSW |
10 |
81,307,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Celf5
|
UTSW |
10 |
81,303,138 (GRCm39) |
unclassified |
probably benign |
|
|
R1796:Celf5
|
UTSW |
10 |
81,303,053 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2291:Celf5
|
UTSW |
10 |
81,302,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4812:Celf5
|
UTSW |
10 |
81,306,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5367:Celf5
|
UTSW |
10 |
81,303,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6323:Celf5
|
UTSW |
10 |
81,305,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7033:Celf5
|
UTSW |
10 |
81,298,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7226:Celf5
|
UTSW |
10 |
81,303,863 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7454:Celf5
|
UTSW |
10 |
81,318,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Celf5
|
UTSW |
10 |
81,303,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Celf5
|
UTSW |
10 |
81,302,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation