Incidental Mutation 'R7505:Celf2'
| ID |
581703 |
| 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 |
045578-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.462)
|
| Stock # |
R7505 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
6544505-7401345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6629511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 136
(M136K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002176]
[ENSMUST00000100429]
[ENSMUST00000114924]
[ENSMUST00000114927]
[ENSMUST00000114934]
[ENSMUST00000123142]
[ENSMUST00000137733]
[ENSMUST00000142941]
[ENSMUST00000150624]
[ENSMUST00000170438]
[ENSMUST00000182404]
[ENSMUST00000182706]
[ENSMUST00000182851]
[ENSMUST00000182879]
[ENSMUST00000183091]
[ENSMUST00000183209]
[ENSMUST00000183984]
|
| AlphaFold |
Q9Z0H4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002176
AA Change: M94K
PolyPhen 2
Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107
AA Change: M94K
| 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 |
possibly damaging
Transcript: ENSMUST00000100429
AA Change: M94K
PolyPhen 2
Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097996
Gene: ENSMUSG00000002107
AA Change: M94K
| 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: M136K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110574
Gene: ENSMUSG00000002107
AA Change: M136K
| 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: ENSMUST00000114927
AA Change: M94K
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110577
Gene: ENSMUSG00000002107
AA Change: M94K
| 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: M136K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110584
Gene: ENSMUSG00000002107
AA Change: M136K
| 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: ENSMUST00000123142
|
| SMART Domains |
Protein: ENSMUSP00000138666
Gene: ENSMUSG00000002107
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
91 |
1.58e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000137733
AA Change: M94K
PolyPhen 2
Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138694
Gene: ENSMUSG00000002107
AA Change: M94K
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
95 |
1.29e-17 |
SMART |
|
internal_repeat_1
|
109 |
134 |
2.62e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142941
AA Change: M94K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120459
Gene: ENSMUSG00000002107
AA Change: M94K
| 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 benign
Transcript: ENSMUST00000150624
AA Change: M94K
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138297
Gene: ENSMUSG00000002107
AA Change: M94K
| 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: ENSMUST00000170438
AA Change: M136K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130829
Gene: ENSMUSG00000002107
AA Change: M136K
| 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: ENSMUST00000182404
AA Change: M7K
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138769
Gene: ENSMUSG00000002107
AA Change: M7K
| 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 damaging
Transcript: ENSMUST00000182706
AA Change: M130K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107
AA Change: M130K
| 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 |
possibly damaging
Transcript: ENSMUST00000182851
AA Change: M118K
PolyPhen 2
Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138363
Gene: ENSMUSG00000002107
AA Change: M118K
| 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: M94K
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138359
Gene: ENSMUSG00000002107
AA Change: M94K
| 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: M118K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138795
Gene: ENSMUSG00000002107
AA Change: M118K
| 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 |
possibly damaging
Transcript: ENSMUST00000183209
AA Change: M130K
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107
AA Change: M130K
| 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: ENSMUST00000183984
AA Change: M181K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138974
Gene: ENSMUSG00000002107
AA Change: M181K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
A |
15: 91,033,260 (GRCm39) |
N719Y |
possibly damaging |
Het |
| Adamts2 |
T |
C |
11: 50,687,347 (GRCm39) |
I1058T |
probably benign |
Het |
| Alb |
T |
A |
5: 90,617,368 (GRCm39) |
Y356N |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,225,924 (GRCm39) |
N971D |
probably damaging |
Het |
| Atp6v1c2 |
A |
G |
12: 17,347,724 (GRCm39) |
|
probably null |
Het |
| Atp6v1h |
A |
T |
1: 5,194,561 (GRCm39) |
I247L |
probably benign |
Het |
| Cacna1s |
C |
T |
1: 136,013,187 (GRCm39) |
R593* |
probably null |
Het |
| Cacna2d3 |
C |
T |
14: 28,767,501 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,575,231 (GRCm39) |
G2D |
probably benign |
Het |
| Cebpe |
G |
T |
14: 54,948,113 (GRCm39) |
N243K |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,352,127 (GRCm39) |
I778V |
probably benign |
Het |
| Col22a1 |
A |
T |
15: 71,671,248 (GRCm39) |
C1592* |
probably null |
Het |
| Cpne2 |
A |
T |
8: 95,275,094 (GRCm39) |
N34I |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,219,240 (GRCm39) |
N860S |
probably benign |
Het |
| Disp2 |
T |
G |
2: 118,621,569 (GRCm39) |
L767R |
probably damaging |
Het |
| Eif1ad19 |
A |
T |
12: 87,740,270 (GRCm39) |
N96K |
probably benign |
Het |
| Evpl |
A |
G |
11: 116,117,813 (GRCm39) |
|
probably null |
Het |
| F7 |
A |
T |
8: 13,078,745 (GRCm39) |
N59Y |
possibly damaging |
Het |
| Fam98a |
A |
T |
17: 75,845,233 (GRCm39) |
H504Q |
unknown |
Het |
| Fbxo4 |
G |
A |
15: 4,000,903 (GRCm39) |
R270C |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,789,099 (GRCm39) |
V555A |
probably damaging |
Het |
| Fgf4 |
T |
C |
7: 144,415,498 (GRCm39) |
V86A |
possibly damaging |
Het |
| Fpgt |
G |
T |
3: 154,792,413 (GRCm39) |
A538D |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,029,162 (GRCm39) |
T181A |
probably benign |
Het |
| Gask1a |
G |
C |
9: 121,805,483 (GRCm39) |
G425R |
probably benign |
Het |
| Gbx2 |
A |
G |
1: 89,856,455 (GRCm39) |
S312P |
probably benign |
Het |
| Gm29735 |
C |
T |
7: 141,710,327 (GRCm39) |
C175Y |
unknown |
Het |
| Gm7995 |
A |
G |
14: 42,132,314 (GRCm39) |
T49A |
|
Het |
| Hnrnpk |
A |
G |
13: 58,547,783 (GRCm39) |
M27T |
probably benign |
Het |
| Idh3b |
A |
G |
2: 130,126,147 (GRCm39) |
S20P |
probably benign |
Het |
| Idh3b |
G |
C |
2: 130,126,153 (GRCm39) |
R18G |
probably benign |
Het |
| Ighg2b |
T |
A |
12: 113,268,600 (GRCm39) |
T354S |
|
Het |
| Lrfn2 |
T |
A |
17: 49,403,479 (GRCm39) |
M534K |
probably benign |
Het |
| Mcpt8 |
G |
A |
14: 56,320,548 (GRCm39) |
A127V |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,304,743 (GRCm39) |
N176K |
possibly damaging |
Het |
| Mtr |
G |
T |
13: 12,236,362 (GRCm39) |
D621E |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,106,925 (GRCm39) |
I63N |
probably benign |
Het |
| Nol6 |
T |
C |
4: 41,120,352 (GRCm39) |
D455G |
probably damaging |
Het |
| Nrde2 |
A |
T |
12: 100,098,757 (GRCm39) |
S637T |
probably benign |
Het |
| Ntn4 |
G |
T |
10: 93,543,146 (GRCm39) |
G291W |
probably damaging |
Het |
| Or13a28 |
C |
A |
7: 140,217,965 (GRCm39) |
T117K |
probably damaging |
Het |
| Or4d10 |
T |
A |
19: 12,051,969 (GRCm39) |
E9V |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,528,364 (GRCm39) |
T1865S |
probably benign |
Het |
| Plec |
A |
T |
15: 76,065,394 (GRCm39) |
S1559T |
unknown |
Het |
| Plekhm1 |
C |
T |
11: 103,270,855 (GRCm39) |
|
probably null |
Het |
| Plin4 |
T |
A |
17: 56,416,357 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Polrmt |
A |
G |
10: 79,573,717 (GRCm39) |
F995L |
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,579,010 (GRCm39) |
|
probably null |
Het |
| Pramel16 |
A |
G |
4: 143,676,273 (GRCm39) |
I277T |
possibly damaging |
Het |
| Pramel28 |
C |
T |
4: 143,691,556 (GRCm39) |
C389Y |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,573,077 (GRCm39) |
T375A |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,542,774 (GRCm39) |
M3145K |
probably damaging |
Het |
| S100a11 |
A |
G |
3: 93,433,339 (GRCm39) |
K61R |
probably benign |
Het |
| Sar1a |
A |
G |
10: 61,527,073 (GRCm39) |
T164A |
probably benign |
Het |
| Sec31b |
C |
T |
19: 44,532,146 (GRCm39) |
A25T |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,363,350 (GRCm39) |
V371A |
probably benign |
Het |
| Speer1g |
T |
A |
5: 11,181,135 (GRCm39) |
Y141N |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,905,832 (GRCm39) |
L1271* |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,115,862 (GRCm39) |
T944A |
possibly damaging |
Het |
| Taf6 |
A |
T |
5: 138,178,207 (GRCm39) |
C431* |
probably null |
Het |
| Tdrd6 |
A |
G |
17: 43,938,570 (GRCm39) |
V826A |
not run |
Het |
| Tent4a |
G |
T |
13: 69,655,047 (GRCm39) |
P476T |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,836,037 (GRCm39) |
V831A |
probably damaging |
Het |
| Tnfrsf8 |
T |
G |
4: 144,995,685 (GRCm39) |
D458A |
probably damaging |
Het |
| Trpv5 |
A |
G |
6: 41,651,590 (GRCm39) |
I196T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,608,898 (GRCm39) |
D17706V |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,223,444 (GRCm39) |
Y276C |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,236,276 (GRCm39) |
I988K |
probably damaging |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,279 (GRCm39) |
R356* |
probably null |
Het |
| Wdr37 |
A |
T |
13: 8,869,971 (GRCm39) |
H429Q |
probably damaging |
Het |
| Wwc2 |
A |
T |
8: 48,333,185 (GRCm39) |
L277Q |
probably damaging |
Het |
| Zscan12 |
T |
A |
13: 21,552,756 (GRCm39) |
N193K |
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 |
|
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 |
|
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'- CGTGGAGGATTATCCCTTGC -3'
(R):5'- CTGTTCCCGGCTTGAAGGTTAG -3'
Sequencing Primer
(F):5'- TGGAGGATTATCCCTTGCCACAG -3'
(R):5'- GTTCCTGAACATAAAACTGAGGAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation