Incidental Mutation 'IGL02193:Celf5'
| ID |
283963 |
| 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: 0.121)
|
| Stock # |
IGL02193
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81295061-81318543 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81306507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 52
(I52T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118763]
[ENSMUST00000119060]
[ENSMUST00000120508]
[ENSMUST00000120856]
[ENSMUST00000147524]
|
| AlphaFold |
A0A5F8MPH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118763
AA Change: I122T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113675
Gene: ENSMUSG00000034818
AA Change: I122T
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
84 |
7.41e-18 |
SMART |
|
RRM
|
97 |
172 |
3.23e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119060
AA Change: I46T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113546
Gene: ENSMUSG00000034818
AA Change: I46T
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
21 |
96 |
3.23e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120508
AA Change: I121T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113592
Gene: ENSMUSG00000034818
AA Change: I121T
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
84 |
7.41e-18 |
SMART |
|
RRM
|
96 |
171 |
3.23e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120856
AA Change: I45T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113784
Gene: ENSMUSG00000034818
AA Change: I45T
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
20 |
95 |
3.23e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145375
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147524
AA Change: I52T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117430
Gene: ENSMUSG00000034818
AA Change: I52T
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
27 |
92 |
6.87e-13 |
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 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
G |
3: 116,572,815 (GRCm39) |
L812P |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,808,767 (GRCm39) |
F714I |
probably benign |
Het |
| Armh3 |
G |
T |
19: 45,961,323 (GRCm39) |
T118K |
probably benign |
Het |
| Clstn1 |
T |
C |
4: 149,729,809 (GRCm39) |
V771A |
probably benign |
Het |
| Enpep |
G |
T |
3: 129,075,336 (GRCm39) |
L661I |
possibly damaging |
Het |
| Faxc |
A |
G |
4: 21,993,486 (GRCm39) |
N377D |
possibly damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,442,264 (GRCm39) |
E190G |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,425,302 (GRCm39) |
M285I |
probably benign |
Het |
| Gm5900 |
A |
C |
7: 104,599,231 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6133 |
A |
G |
18: 78,393,308 (GRCm39) |
N101D |
probably benign |
Het |
| Gtse1 |
A |
G |
15: 85,746,531 (GRCm39) |
K116E |
probably benign |
Het |
| H2-D1 |
T |
G |
17: 35,484,785 (GRCm39) |
H215Q |
possibly damaging |
Het |
| Hdc |
A |
T |
2: 126,443,700 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
T |
C |
10: 62,853,056 (GRCm39) |
H195R |
probably damaging |
Het |
| Ipo8 |
T |
C |
6: 148,678,782 (GRCm39) |
T939A |
probably damaging |
Het |
| Irag1 |
A |
T |
7: 110,498,162 (GRCm39) |
L411Q |
probably damaging |
Het |
| Krt79 |
G |
T |
15: 101,848,340 (GRCm39) |
P104T |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,918,670 (GRCm39) |
M384L |
probably benign |
Het |
| Lamb2 |
T |
G |
9: 108,366,559 (GRCm39) |
D1590E |
probably benign |
Het |
| Ly6i |
A |
T |
15: 74,854,879 (GRCm39) |
C10* |
probably null |
Het |
| Mamdc4 |
G |
A |
2: 25,454,458 (GRCm39) |
A1082V |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,159,117 (GRCm39) |
L799H |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Or2y13 |
C |
T |
11: 49,414,571 (GRCm39) |
T7I |
possibly damaging |
Het |
| Or5al6 |
A |
T |
2: 85,977,059 (GRCm39) |
N6K |
probably benign |
Het |
| Or6b1 |
T |
C |
6: 42,815,753 (GRCm39) |
|
probably benign |
Het |
| Otud6b |
T |
C |
4: 14,812,543 (GRCm39) |
H268R |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,927 (GRCm39) |
E138G |
probably damaging |
Het |
| Phactr1 |
T |
C |
13: 42,863,176 (GRCm39) |
|
probably benign |
Het |
| Psmf1 |
A |
G |
2: 151,562,733 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
T |
C |
10: 10,422,199 (GRCm39) |
|
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 111,999,647 (GRCm39) |
|
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,828,913 (GRCm39) |
T191A |
probably benign |
Het |
| Slc25a3 |
A |
G |
10: 90,953,977 (GRCm39) |
V245A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Thoc1 |
A |
G |
18: 9,992,863 (GRCm39) |
D545G |
probably benign |
Het |
| Tpst1 |
T |
A |
5: 130,130,737 (GRCm39) |
M69K |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,196,344 (GRCm39) |
V1456A |
probably benign |
Het |
| Trappc6a |
T |
A |
7: 19,249,144 (GRCm39) |
C124S |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,367,628 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02199:Celf5
|
APN |
10 |
81,318,318 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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