Incidental Mutation 'R5913:Celf2'
| ID |
461088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Celf2
|
| Ensembl Gene |
ENSMUSG00000002107 |
| Gene Name |
CUGBP, Elav-like family member 2 |
| Synonyms |
Cugbp2, B230345P09Rik, Napor-2, ETR-3 |
| MMRRC Submission |
044110-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.462)
|
| Stock # |
R5913 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
6544505-7401345 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 7085969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138764
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002176]
[ENSMUST00000114923]
[ENSMUST00000137733]
[ENSMUST00000182404]
[ENSMUST00000182706]
[ENSMUST00000183209]
|
| AlphaFold |
Q9Z0H4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002176
|
| SMART Domains |
Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
95 |
1.29e-17 |
SMART |
|
RRM
|
109 |
184 |
4.22e-22 |
SMART |
|
low complexity region
|
194 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
281 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
392 |
N/A |
INTRINSIC |
|
RRM
|
400 |
473 |
3.2e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083890
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114923
AA Change: M1K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000110573
Gene: ENSMUSG00000002107
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
41 |
120 |
1.6e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137733
|
| SMART Domains |
Protein: ENSMUSP00000138694
Gene: ENSMUSG00000002107
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
95 |
1.29e-17 |
SMART |
|
internal_repeat_1
|
109 |
134 |
2.62e-5 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182404
|
| SMART Domains |
Protein: ENSMUSP00000138769
Gene: ENSMUSG00000002107
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
22 |
97 |
4.22e-22 |
SMART |
|
low complexity region
|
107 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
194 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000182706
AA Change: M1K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
53 |
131 |
1.29e-17 |
SMART |
|
RRM
|
145 |
220 |
4.22e-22 |
SMART |
|
low complexity region
|
230 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
428 |
N/A |
INTRINSIC |
|
RRM
|
436 |
509 |
3.2e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182749
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183209
AA Change: M1K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
53 |
131 |
1.29e-17 |
SMART |
|
RRM
|
145 |
220 |
4.22e-22 |
SMART |
|
low complexity region
|
230 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
315 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
|
RRM
|
378 |
461 |
4.92e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.8531 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
97% (75/77) |
| 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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2cl |
A |
T |
9: 110,718,773 (GRCm39) |
|
probably null |
Het |
| Arhgef19 |
A |
T |
4: 140,976,609 (GRCm39) |
H457L |
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,314,858 (GRCm39) |
Y856C |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,187,612 (GRCm39) |
V1585D |
probably benign |
Het |
| Bhlhe40 |
T |
G |
6: 108,642,154 (GRCm39) |
M366R |
possibly damaging |
Het |
| Bora |
C |
T |
14: 99,305,948 (GRCm39) |
S439L |
probably benign |
Het |
| Cacnb4 |
G |
A |
2: 52,324,796 (GRCm39) |
|
probably benign |
Het |
| Carm1 |
T |
C |
9: 21,498,848 (GRCm39) |
S529P |
probably benign |
Het |
| Cd200r1 |
A |
G |
16: 44,610,034 (GRCm39) |
I84M |
possibly damaging |
Het |
| Cd209a |
A |
G |
8: 3,798,742 (GRCm39) |
S22P |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,648,514 (GRCm39) |
T783A |
probably damaging |
Het |
| Cep95 |
T |
C |
11: 106,709,335 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,131,760 (GRCm39) |
R366K |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,445,781 (GRCm39) |
K3284E |
probably benign |
Het |
| Csn3 |
T |
A |
5: 88,075,470 (GRCm39) |
L12Q |
probably damaging |
Het |
| Ctdnep1 |
T |
C |
11: 69,879,691 (GRCm39) |
L39P |
probably damaging |
Het |
| Cxcl17 |
C |
T |
7: 25,101,671 (GRCm39) |
W55* |
probably null |
Het |
| Cyp2u1 |
G |
A |
3: 131,096,860 (GRCm39) |
|
probably benign |
Het |
| Dmgdh |
A |
T |
13: 93,888,831 (GRCm39) |
E823V |
possibly damaging |
Het |
| Dnah2 |
T |
C |
11: 69,339,256 (GRCm39) |
I3078V |
probably damaging |
Het |
| Dpp10 |
A |
C |
1: 123,312,018 (GRCm39) |
Y446D |
probably damaging |
Het |
| Eif2s3y |
T |
C |
Y: 1,017,365 (GRCm39) |
V290A |
probably benign |
Homo |
| Fktn |
G |
A |
4: 53,735,035 (GRCm39) |
W224* |
probably null |
Het |
| Gm37240 |
T |
C |
3: 84,874,905 (GRCm39) |
|
probably benign |
Het |
| Gpr3 |
A |
G |
4: 132,938,489 (GRCm39) |
V61A |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,237,470 (GRCm39) |
|
probably null |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,462,037 (GRCm39) |
I968K |
possibly damaging |
Het |
| Hmox2 |
G |
T |
16: 4,582,732 (GRCm39) |
R155L |
probably damaging |
Het |
| Ifnlr1 |
C |
A |
4: 135,432,580 (GRCm39) |
Q339K |
probably damaging |
Het |
| Ifnlr1 |
A |
T |
4: 135,432,581 (GRCm39) |
Q339L |
probably damaging |
Het |
| Irf4 |
T |
A |
13: 30,941,741 (GRCm39) |
S365T |
probably benign |
Het |
| Klrb1a |
T |
G |
6: 128,595,472 (GRCm39) |
D124A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,832 (GRCm39) |
I78N |
probably damaging |
Het |
| Mctp1 |
G |
T |
13: 76,907,944 (GRCm39) |
|
probably null |
Het |
| Muc21 |
C |
T |
17: 35,934,123 (GRCm39) |
|
probably benign |
Het |
| Mxra8 |
A |
T |
4: 155,927,760 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
A |
7: 5,327,902 (GRCm39) |
|
probably null |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| P2ry13 |
T |
C |
3: 59,116,786 (GRCm39) |
T331A |
probably benign |
Het |
| Padi2 |
G |
A |
4: 140,644,952 (GRCm39) |
R62H |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,607,707 (GRCm39) |
Q313L |
probably benign |
Het |
| Pcdhga11 |
A |
G |
18: 37,889,045 (GRCm39) |
I18V |
probably benign |
Het |
| Pcdhga11 |
A |
G |
18: 37,891,142 (GRCm39) |
R717G |
probably benign |
Het |
| Pcif1 |
C |
A |
2: 164,726,412 (GRCm39) |
|
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,813,849 (GRCm39) |
T1501A |
probably benign |
Het |
| Plekhg2 |
C |
A |
7: 28,064,027 (GRCm39) |
R473L |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,307,152 (GRCm39) |
Y466C |
probably damaging |
Het |
| Sec22c |
A |
G |
9: 121,519,368 (GRCm39) |
S83P |
possibly damaging |
Het |
| Sgcz |
T |
A |
8: 37,993,425 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Slc27a1 |
C |
T |
8: 72,036,907 (GRCm39) |
P381L |
probably benign |
Het |
| Slc8a1 |
T |
A |
17: 81,955,431 (GRCm39) |
I536F |
probably damaging |
Het |
| Src |
T |
A |
2: 157,307,950 (GRCm39) |
|
probably null |
Het |
| Sybu |
T |
A |
15: 44,651,017 (GRCm39) |
T96S |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,235,929 (GRCm39) |
Y363H |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,939,302 (GRCm39) |
E582G |
possibly damaging |
Het |
| Tmem131 |
C |
A |
1: 36,858,209 (GRCm39) |
V713L |
probably benign |
Het |
| Tnfsf13b |
T |
A |
8: 10,056,988 (GRCm39) |
L49Q |
probably damaging |
Het |
| Trem2 |
T |
A |
17: 48,653,661 (GRCm39) |
|
probably benign |
Het |
| Tspyl3 |
T |
A |
2: 153,066,636 (GRCm39) |
M201L |
probably benign |
Het |
| Ttl |
A |
G |
2: 128,917,961 (GRCm39) |
D141G |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,951,889 (GRCm39) |
V153A |
possibly damaging |
Het |
| Ubr3 |
A |
G |
2: 69,851,559 (GRCm39) |
Y1842C |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,086,229 (GRCm39) |
V656A |
probably damaging |
Het |
| Vmn2r74 |
G |
A |
7: 85,601,098 (GRCm39) |
R847C |
probably damaging |
Het |
| Vmo1 |
A |
T |
11: 70,405,241 (GRCm39) |
V63D |
probably damaging |
Het |
| Zcwpw1 |
T |
A |
5: 137,798,269 (GRCm39) |
D155E |
probably benign |
Het |
| Zeb1 |
T |
G |
18: 5,766,765 (GRCm39) |
S425R |
possibly damaging |
Het |
|
| Other mutations in Celf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00925:Celf2
|
APN |
2 |
6,726,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01974:Celf2
|
APN |
2 |
6,608,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02159:Celf2
|
APN |
2 |
6,608,988 (GRCm39) |
nonsense |
probably null |
|
|
LCD18:Celf2
|
UTSW |
2 |
6,779,076 (GRCm38) |
intron |
probably benign |
|
|
R0113:Celf2
|
UTSW |
2 |
6,629,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Celf2
|
UTSW |
2 |
6,608,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Celf2
|
UTSW |
2 |
6,726,226 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1755:Celf2
|
UTSW |
2 |
6,889,769 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
|
R1802:Celf2
|
UTSW |
2 |
6,554,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Celf2
|
UTSW |
2 |
6,608,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Celf2
|
UTSW |
2 |
6,620,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Celf2
|
UTSW |
2 |
6,558,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2848:Celf2
|
UTSW |
2 |
6,608,936 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2849:Celf2
|
UTSW |
2 |
6,608,936 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3708:Celf2
|
UTSW |
2 |
6,629,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4295:Celf2
|
UTSW |
2 |
6,608,875 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4601:Celf2
|
UTSW |
2 |
6,590,831 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4602:Celf2
|
UTSW |
2 |
6,590,831 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4610:Celf2
|
UTSW |
2 |
6,590,831 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4611:Celf2
|
UTSW |
2 |
6,590,831 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4667:Celf2
|
UTSW |
2 |
6,726,339 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4668:Celf2
|
UTSW |
2 |
6,726,339 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4669:Celf2
|
UTSW |
2 |
6,726,339 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4790:Celf2
|
UTSW |
2 |
6,554,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Celf2
|
UTSW |
2 |
6,612,658 (GRCm39) |
intron |
probably benign |
|
|
R5369:Celf2
|
UTSW |
2 |
7,085,892 (GRCm39) |
intron |
probably benign |
|
|
R5540:Celf2
|
UTSW |
2 |
6,558,743 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5805:Celf2
|
UTSW |
2 |
6,558,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6330:Celf2
|
UTSW |
2 |
6,889,766 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7505:Celf2
|
UTSW |
2 |
6,629,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Celf2
|
UTSW |
2 |
6,558,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Celf2
|
UTSW |
2 |
6,551,914 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8437:Celf2
|
UTSW |
2 |
6,551,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8860:Celf2
|
UTSW |
2 |
6,565,468 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9170:Celf2
|
UTSW |
2 |
6,554,646 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9373:Celf2
|
UTSW |
2 |
6,551,915 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9374:Celf2
|
UTSW |
2 |
6,590,886 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9382:Celf2
|
UTSW |
2 |
6,726,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9623:Celf2
|
UTSW |
2 |
6,620,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Celf2
|
UTSW |
2 |
6,590,835 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9718:Celf2
|
UTSW |
2 |
6,726,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Celf2
|
UTSW |
2 |
6,558,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACACTTGGGCCATGTTGG -3'
(R):5'- GAGCACACGATTGATTCAGGGG -3'
Sequencing Primer
(F):5'- GTTGGCTTGTCACTTAAACCCAAAG -3'
(R):5'- ACGATTGATTCAGGGGGTGGAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation