Incidental Mutation 'R6323:Celf5'
| ID |
510209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Celf5
|
| Ensembl Gene |
ENSMUSG00000034818 |
| Gene Name |
CUGBP, Elav-like family member 5 |
| Synonyms |
4930565A21Rik, Brunol5 |
| MMRRC Submission |
044477-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6323 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81295061-81318543 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 81305337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 143
(S143P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118763]
[ENSMUST00000119060]
[ENSMUST00000120508]
[ENSMUST00000120856]
[ENSMUST00000147524]
|
| AlphaFold |
A0A5F8MPH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118763
AA Change: S144P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113675
Gene: ENSMUSG00000034818
AA Change: S144P
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
8 |
84 |
7.41e-18 |
SMART |
|
RRM
|
97 |
172 |
3.23e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119060
AA Change: S68P
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113546
Gene: ENSMUSG00000034818
AA Change: S68P
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
21 |
96 |
3.23e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120508
AA Change: S143P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113592
Gene: ENSMUSG00000034818
AA Change: S143P
| 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: S67P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113784
Gene: ENSMUSG00000034818
AA Change: S67P
| 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: S74P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117430
Gene: ENSMUSG00000034818
AA Change: S74P
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
27 |
92 |
6.87e-13 |
SMART |
|
| Meta Mutation Damage Score |
0.2266 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,436,568 (GRCm39) |
T171A |
unknown |
Het |
| Akr1c6 |
A |
G |
13: 4,497,017 (GRCm39) |
K153R |
possibly damaging |
Het |
| Ano1 |
T |
A |
7: 144,165,423 (GRCm39) |
I601F |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,676,404 (GRCm39) |
Y8C |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,962,286 (GRCm39) |
I1816V |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,263,577 (GRCm39) |
T1294S |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,026,161 (GRCm39) |
S952P |
possibly damaging |
Het |
| Cdc20 |
T |
C |
4: 118,292,761 (GRCm39) |
N329S |
probably damaging |
Het |
| Ceacam1 |
A |
C |
7: 25,174,076 (GRCm39) |
L193R |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,548,395 (GRCm39) |
D1342G |
possibly damaging |
Het |
| Chd5 |
C |
A |
4: 152,451,791 (GRCm39) |
T701K |
probably damaging |
Het |
| Cpt1b |
C |
A |
15: 89,303,266 (GRCm39) |
M596I |
probably benign |
Het |
| Ctrb1 |
A |
G |
8: 112,416,223 (GRCm39) |
V21A |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,203,889 (GRCm39) |
V579I |
probably benign |
Het |
| Dlc1 |
T |
C |
8: 37,405,537 (GRCm39) |
E84G |
possibly damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,325,390 (GRCm39) |
D254G |
probably damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Gstm1 |
A |
G |
3: 107,925,063 (GRCm39) |
V10A |
probably benign |
Het |
| Krt13 |
C |
A |
11: 100,011,976 (GRCm39) |
A116S |
probably damaging |
Het |
| Lars2 |
A |
T |
9: 123,270,659 (GRCm39) |
K584* |
probably null |
Het |
| Lrrc43 |
G |
T |
5: 123,641,949 (GRCm39) |
G600W |
probably damaging |
Het |
| Madd |
G |
T |
2: 90,991,783 (GRCm39) |
|
probably null |
Het |
| Mnat1 |
A |
G |
12: 73,214,878 (GRCm39) |
D65G |
probably damaging |
Het |
| Nsmf |
A |
G |
2: 24,945,063 (GRCm39) |
N42S |
possibly damaging |
Het |
| Or4k77 |
T |
C |
2: 111,199,046 (GRCm39) |
L23P |
possibly damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,645 (GRCm39) |
L48P |
probably damaging |
Het |
| Palld |
A |
T |
8: 62,173,727 (GRCm39) |
W311R |
probably damaging |
Het |
| Pax1 |
T |
A |
2: 147,210,321 (GRCm39) |
V352E |
probably damaging |
Het |
| Rnf2 |
T |
C |
1: 151,348,967 (GRCm39) |
K51R |
probably damaging |
Het |
| Rpl7l1 |
C |
A |
17: 47,093,564 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
G |
A |
10: 78,648,721 (GRCm39) |
G481S |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 23,998,969 (GRCm39) |
I121V |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,118,916 (GRCm39) |
T4698I |
probably benign |
Het |
| Trav6-1 |
T |
C |
14: 52,876,248 (GRCm39) |
V56A |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,650,522 (GRCm39) |
C103S |
probably benign |
Het |
| Wwp2 |
A |
T |
8: 108,267,303 (GRCm39) |
H305L |
probably damaging |
Het |
| Zfp593 |
A |
G |
4: 133,972,224 (GRCm39) |
V94A |
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 |
|
|
IGL02193:Celf5
|
APN |
10 |
81,306,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTCTGATCACAGCCTG -3'
(R):5'- TCTCTGGGCCTAGAAGATGTTG -3'
Sequencing Primer
(F):5'- CTGGGCTGCACATCCAG -3'
(R):5'- CCTAGAAGATGTTGGTGTATCCTATC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation