Incidental Mutation 'R2422:Celf2'
| ID |
249344 |
| 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 |
040384-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.449)
|
| Stock # |
R2422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
6544505-7401345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6558700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 364
(T364I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002176]
[ENSMUST00000100429]
[ENSMUST00000114924]
[ENSMUST00000114927]
[ENSMUST00000114934]
[ENSMUST00000142941]
[ENSMUST00000150624]
[ENSMUST00000170438]
[ENSMUST00000182851]
[ENSMUST00000182879]
[ENSMUST00000183091]
[ENSMUST00000183209]
[ENSMUST00000182706]
[ENSMUST00000182404]
[ENSMUST00000183984]
|
| AlphaFold |
Q9Z0H4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002176
AA Change: T360I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107
AA Change: T360I
| 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 |
probably damaging
Transcript: ENSMUST00000100429
AA Change: T360I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097996
Gene: ENSMUSG00000002107
AA Change: T360I
| 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
|
341 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
398 |
N/A |
INTRINSIC |
|
RRM
|
406 |
479 |
3.2e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114924
AA Change: T402I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110574
Gene: ENSMUSG00000002107
AA Change: T402I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
59 |
137 |
1.29e-17 |
SMART |
|
RRM
|
151 |
226 |
4.22e-22 |
SMART |
|
low complexity region
|
236 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
434 |
N/A |
INTRINSIC |
|
RRM
|
442 |
515 |
3.2e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114927
AA Change: T364I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110577
Gene: ENSMUSG00000002107
AA Change: T364I
| 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
|
341 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
RRM
|
404 |
477 |
3.2e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114934
AA Change: T402I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110584
Gene: ENSMUSG00000002107
AA Change: T402I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
59 |
137 |
1.29e-17 |
SMART |
|
RRM
|
151 |
226 |
4.22e-22 |
SMART |
|
low complexity region
|
236 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
434 |
N/A |
INTRINSIC |
|
RRM
|
442 |
515 |
3.2e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142941
AA Change: T366I
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000120459
Gene: ENSMUSG00000002107
AA Change: T366I
| 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
|
341 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
398 |
N/A |
INTRINSIC |
|
RRM
|
406 |
479 |
3.2e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150624
AA Change: T364I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138297
Gene: ENSMUSG00000002107
AA Change: T364I
| 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
|
341 |
359 |
N/A |
INTRINSIC |
|
low complexity region
|
383 |
396 |
N/A |
INTRINSIC |
|
RRM
|
404 |
477 |
3.2e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182355
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170438
AA Change: T402I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130829
Gene: ENSMUSG00000002107
AA Change: T402I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
59 |
137 |
1.29e-17 |
SMART |
|
RRM
|
151 |
226 |
4.22e-22 |
SMART |
|
low complexity region
|
236 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
RRM
|
384 |
467 |
4.92e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182851
AA Change: T384I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138363
Gene: ENSMUSG00000002107
AA Change: T384I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
41 |
119 |
1.29e-17 |
SMART |
|
RRM
|
133 |
208 |
4.22e-22 |
SMART |
|
low complexity region
|
218 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
379 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
RRM
|
424 |
497 |
3.2e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182879
AA Change: T364I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138359
Gene: ENSMUSG00000002107
AA Change: T364I
| 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 |
|
RRM
|
346 |
429 |
4.92e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183091
AA Change: T384I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138795
Gene: ENSMUSG00000002107
AA Change: T384I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
41 |
119 |
1.29e-17 |
SMART |
|
RRM
|
133 |
208 |
4.22e-22 |
SMART |
|
low complexity region
|
218 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
317 |
N/A |
INTRINSIC |
|
RRM
|
366 |
449 |
4.92e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183209
AA Change: T396I
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107
AA Change: T396I
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182706
AA Change: T396I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107
AA Change: T396I
| 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 |
silent
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 benign
Transcript: ENSMUST00000183984
|
| SMART Domains |
Protein: ENSMUSP00000138974
Gene: ENSMUSG00000002107
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
54 |
N/A |
INTRINSIC |
|
RRM
|
104 |
182 |
1.29e-17 |
SMART |
|
RRM
|
196 |
271 |
4.22e-22 |
SMART |
|
low complexity region
|
281 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
380 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0772 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
99% (77/78) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
T |
2: 68,421,864 (GRCm39) |
N47I |
probably benign |
Het |
| Actr5 |
T |
C |
2: 158,478,001 (GRCm39) |
F457S |
probably damaging |
Het |
| Adamts3 |
A |
G |
5: 89,831,034 (GRCm39) |
S1007P |
probably damaging |
Het |
| Adck2 |
C |
T |
6: 39,560,932 (GRCm39) |
A440V |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,967,609 (GRCm39) |
L301Q |
probably damaging |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,502,984 (GRCm39) |
V240D |
probably damaging |
Het |
| Ccdc18 |
A |
C |
5: 108,376,454 (GRCm39) |
E1298D |
probably damaging |
Het |
| Ccdc77 |
A |
G |
6: 120,316,120 (GRCm39) |
C186R |
probably benign |
Het |
| Cdk12 |
T |
G |
11: 98,109,900 (GRCm39) |
S640R |
probably benign |
Het |
| Cdv3 |
T |
C |
9: 103,242,317 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
C |
A |
8: 110,949,413 (GRCm39) |
S574R |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,313,318 (GRCm39) |
L56P |
unknown |
Het |
| Cracdl |
C |
A |
1: 37,652,556 (GRCm39) |
V1084L |
probably benign |
Het |
| Dctn1 |
C |
T |
6: 83,176,782 (GRCm39) |
L1241F |
possibly damaging |
Het |
| Depdc5 |
T |
C |
5: 33,148,379 (GRCm39) |
F1505S |
probably damaging |
Het |
| Dhcr24 |
G |
T |
4: 106,418,291 (GRCm39) |
|
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,462,021 (GRCm39) |
S127P |
probably benign |
Het |
| Entpd7 |
A |
T |
19: 43,716,527 (GRCm39) |
Y507F |
possibly damaging |
Het |
| Fbp1 |
T |
C |
13: 63,019,120 (GRCm39) |
K24E |
probably benign |
Het |
| Galr1 |
A |
T |
18: 82,424,048 (GRCm39) |
N76K |
probably damaging |
Het |
| Glrb |
A |
G |
3: 80,767,542 (GRCm39) |
I226T |
probably damaging |
Het |
| Gm17421 |
T |
A |
12: 113,333,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4950 |
T |
A |
18: 51,998,856 (GRCm39) |
Q33L |
probably benign |
Het |
| Gnat2 |
A |
T |
3: 108,002,855 (GRCm39) |
M88L |
probably damaging |
Het |
| Gpr183 |
A |
G |
14: 122,191,589 (GRCm39) |
Y311H |
probably damaging |
Het |
| H2-M10.5 |
A |
G |
17: 37,085,891 (GRCm39) |
I308V |
probably benign |
Het |
| Hipk3 |
C |
T |
2: 104,301,830 (GRCm39) |
G121R |
probably benign |
Het |
| Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
| Homez |
C |
A |
14: 55,095,031 (GRCm39) |
V226F |
probably benign |
Het |
| Inf2 |
C |
A |
12: 112,577,258 (GRCm39) |
A1034D |
unknown |
Het |
| Kcnc4 |
G |
T |
3: 107,352,863 (GRCm39) |
P572T |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,760,147 (GRCm39) |
E1037G |
unknown |
Het |
| Krt78 |
T |
C |
15: 101,855,699 (GRCm39) |
E704G |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,057,548 (GRCm39) |
M541L |
probably benign |
Het |
| Lmbrd2 |
C |
T |
15: 9,194,852 (GRCm39) |
T618M |
possibly damaging |
Het |
| Ly6g6e |
G |
A |
17: 35,297,122 (GRCm39) |
R121Q |
probably benign |
Het |
| Mettl22 |
T |
C |
16: 8,305,225 (GRCm39) |
F293L |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,751,906 (GRCm39) |
S263P |
probably damaging |
Het |
| Ndufaf1 |
T |
C |
2: 119,486,218 (GRCm39) |
E298G |
probably damaging |
Het |
| Nek1 |
T |
C |
8: 61,472,935 (GRCm39) |
V152A |
probably damaging |
Het |
| Nlrp4d |
T |
A |
7: 10,096,872 (GRCm39) |
D876V |
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,824 (GRCm39) |
L81P |
possibly damaging |
Het |
| Or11g7 |
T |
C |
14: 50,690,893 (GRCm39) |
L128P |
probably damaging |
Het |
| Or5an11 |
A |
T |
19: 12,246,283 (GRCm39) |
T230S |
probably damaging |
Het |
| Or5k15 |
T |
C |
16: 58,710,328 (GRCm39) |
E85G |
probably benign |
Het |
| Pcdha11 |
G |
T |
18: 37,140,325 (GRCm39) |
L651F |
probably damaging |
Het |
| Plekhg1 |
G |
A |
10: 3,908,048 (GRCm39) |
M988I |
probably benign |
Het |
| Plxnb1 |
G |
A |
9: 108,937,506 (GRCm39) |
R1169H |
probably benign |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,912 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
A |
T |
12: 8,798,931 (GRCm39) |
Q930L |
possibly damaging |
Het |
| Rbp4 |
T |
C |
19: 38,112,792 (GRCm39) |
E67G |
probably damaging |
Het |
| Rgs9 |
C |
A |
11: 109,116,603 (GRCm39) |
|
probably null |
Het |
| Semp2l1 |
C |
T |
1: 32,584,942 (GRCm39) |
A323T |
possibly damaging |
Het |
| Sipa1 |
A |
T |
19: 5,702,140 (GRCm39) |
D923E |
possibly damaging |
Het |
| Smc1a |
A |
G |
X: 150,830,971 (GRCm39) |
|
probably benign |
Het |
| Snx33 |
C |
A |
9: 56,825,822 (GRCm39) |
M546I |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,934,935 (GRCm39) |
W714R |
probably benign |
Het |
| Spata2 |
C |
T |
2: 167,326,126 (GRCm39) |
R231Q |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,530,765 (GRCm39) |
R2341C |
probably benign |
Het |
| Tas2r116 |
A |
T |
6: 132,832,557 (GRCm39) |
I53F |
possibly damaging |
Het |
| Tlk1 |
T |
C |
2: 70,600,349 (GRCm39) |
E110G |
probably damaging |
Het |
| Tmem102 |
T |
A |
11: 69,695,363 (GRCm39) |
E203V |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
A |
G |
1: 57,435,907 (GRCm39) |
I82T |
possibly damaging |
Het |
| Uba6 |
A |
G |
5: 86,280,475 (GRCm39) |
|
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,838,829 (GRCm39) |
Y674C |
probably damaging |
Het |
| Vmn2r105 |
T |
A |
17: 20,448,097 (GRCm39) |
R242S |
probably benign |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,398 (GRCm39) |
Y605H |
probably benign |
Het |
| Wdr77 |
A |
T |
3: 105,867,337 (GRCm39) |
K62* |
probably null |
Het |
| Zfhx4 |
C |
A |
3: 5,455,465 (GRCm39) |
A1153E |
probably benign |
Het |
| Zfp266 |
C |
A |
9: 20,410,558 (GRCm39) |
V540L |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,943,421 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,785,110 (GRCm39) |
M479T |
possibly damaging |
Het |
| Zfp951 |
G |
A |
5: 104,963,143 (GRCm39) |
T141I |
probably benign |
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 |
|
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 |
|
R5913:Celf2
|
UTSW |
2 |
7,085,969 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
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'- GTTCAAATCACCATCTTTCAGGC -3'
(R):5'- GTGTGAGCTGCATGCACTTG -3'
Sequencing Primer
(F):5'- CCATCTTTCAGGCATGGTCTAAAGG -3'
(R):5'- GCATGCACTTGCTGTTGTAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation