Incidental Mutation 'R9623:Celf2'
| ID |
724918 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.449)
|
| Stock # |
R9623 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
6544505-7401345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6620522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 183
(R183Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110574
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002176]
[ENSMUST00000100429]
[ENSMUST00000114924]
[ENSMUST00000114927]
[ENSMUST00000114934]
[ENSMUST00000137733]
[ENSMUST00000142941]
[ENSMUST00000150624]
[ENSMUST00000170438]
[ENSMUST00000182404]
[ENSMUST00000182706]
[ENSMUST00000182851]
[ENSMUST00000182879]
[ENSMUST00000183091]
[ENSMUST00000183209]
[ENSMUST00000183984]
|
| AlphaFold |
Q9Z0H4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002176
AA Change: R141Q
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002176
Gene: ENSMUSG00000002107
AA Change: R141Q
| 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: R141Q
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097996
Gene: ENSMUSG00000002107
AA Change: R141Q
| 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: R183Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110574
Gene: ENSMUSG00000002107
AA Change: R183Q
| 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: R141Q
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110577
Gene: ENSMUSG00000002107
AA Change: R141Q
| 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: R183Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110584
Gene: ENSMUSG00000002107
AA Change: R183Q
| 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: 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 |
probably damaging
Transcript: ENSMUST00000142941
AA Change: R141Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120459
Gene: ENSMUSG00000002107
AA Change: R141Q
| 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: R141Q
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138297
Gene: ENSMUSG00000002107
AA Change: R141Q
| 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: R183Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130829
Gene: ENSMUSG00000002107
AA Change: R183Q
| 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: R54Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138769
Gene: ENSMUSG00000002107
AA Change: R54Q
| 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: R177Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138764
Gene: ENSMUSG00000002107
AA Change: R177Q
| 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 |
probably damaging
Transcript: ENSMUST00000182851
AA Change: R165Q
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000138363
Gene: ENSMUSG00000002107
AA Change: R165Q
| 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: R141Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138359
Gene: ENSMUSG00000002107
AA Change: R141Q
| 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: R165Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138795
Gene: ENSMUSG00000002107
AA Change: R165Q
| 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: R177Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138355
Gene: ENSMUSG00000002107
AA Change: R177Q
| 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: R228Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138974
Gene: ENSMUSG00000002107
AA Change: R228Q
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
A |
T |
7: 119,181,975 (GRCm39) |
Y408F |
probably benign |
Het |
| Adamts9 |
G |
T |
6: 92,857,661 (GRCm39) |
P876T |
probably benign |
Het |
| Afap1l2 |
T |
A |
19: 56,906,462 (GRCm39) |
D479V |
probably damaging |
Het |
| Aire |
T |
C |
10: 77,873,809 (GRCm39) |
E300G |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,402,307 (GRCm39) |
E428G |
probably damaging |
Het |
| Apaf1 |
A |
T |
10: 90,913,463 (GRCm39) |
Y153* |
probably null |
Het |
| Arhgap10 |
T |
C |
8: 77,985,786 (GRCm39) |
T694A |
probably benign |
Het |
| Arhgef39 |
A |
G |
4: 43,496,819 (GRCm39) |
|
probably null |
Het |
| Arhgef5 |
T |
C |
6: 43,251,736 (GRCm39) |
V829A |
possibly damaging |
Het |
| Arrdc4 |
A |
G |
7: 68,390,741 (GRCm39) |
M333T |
|
Het |
| Boc |
G |
T |
16: 44,322,018 (GRCm39) |
R215S |
|
Het |
| Capn2 |
G |
A |
1: 182,344,795 (GRCm39) |
A42V |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,405,939 (GRCm39) |
M95K |
probably benign |
Het |
| Ccdc183 |
A |
T |
2: 25,499,520 (GRCm39) |
Y438N |
probably benign |
Het |
| Ccnf |
C |
A |
17: 24,468,367 (GRCm39) |
R10M |
probably damaging |
Het |
| Cd19 |
A |
G |
7: 126,011,284 (GRCm39) |
F300S |
probably damaging |
Het |
| Cdkl3 |
G |
T |
11: 51,895,816 (GRCm39) |
C21F |
probably damaging |
Het |
| Clca3a1 |
T |
G |
3: 144,719,698 (GRCm39) |
D424A |
probably benign |
Het |
| Clec3a |
A |
G |
8: 115,144,887 (GRCm39) |
D21G |
probably benign |
Het |
| Clec4e |
T |
C |
6: 123,263,306 (GRCm39) |
N78S |
probably benign |
Het |
| Clpb |
A |
T |
7: 101,313,399 (GRCm39) |
S128C |
possibly damaging |
Het |
| Cntnap5a |
T |
A |
1: 116,369,985 (GRCm39) |
Y867* |
probably null |
Het |
| Dgkg |
G |
C |
16: 22,385,194 (GRCm39) |
N437K |
|
Het |
| Dnhd1 |
A |
G |
7: 105,335,773 (GRCm39) |
E1139G |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,344,134 (GRCm39) |
R1826H |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,052 (GRCm39) |
H1413R |
|
Het |
| Fibp |
T |
A |
19: 5,513,850 (GRCm39) |
V271D |
possibly damaging |
Het |
| Gabra4 |
G |
T |
5: 71,791,023 (GRCm39) |
T273K |
probably damaging |
Het |
| Gan |
G |
A |
8: 117,914,219 (GRCm39) |
D206N |
probably damaging |
Het |
| Gstz1 |
A |
T |
12: 87,206,923 (GRCm39) |
I106F |
probably damaging |
Het |
| Hivep2 |
T |
G |
10: 14,006,546 (GRCm39) |
L1048R |
probably damaging |
Het |
| Htr6 |
A |
T |
4: 138,801,750 (GRCm39) |
M108K |
probably damaging |
Het |
| Hycc1 |
A |
C |
5: 24,170,255 (GRCm39) |
S365A |
probably benign |
Het |
| Itgad |
A |
G |
7: 127,803,723 (GRCm39) |
E1134G |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,366,648 (GRCm39) |
G657S |
|
Het |
| Lrp2 |
T |
C |
2: 69,307,423 (GRCm39) |
I2879V |
probably benign |
Het |
| Lyst |
G |
T |
13: 13,852,587 (GRCm39) |
V2196L |
probably benign |
Het |
| Mettl5 |
T |
A |
2: 69,711,717 (GRCm39) |
I50F |
possibly damaging |
Het |
| Mmadhc |
A |
G |
2: 50,186,341 (GRCm39) |
|
probably benign |
Het |
| Msantd1 |
G |
A |
5: 35,075,076 (GRCm39) |
W46* |
probably null |
Het |
| Mto1 |
T |
C |
9: 78,364,712 (GRCm39) |
I317T |
probably damaging |
Het |
| Myef2 |
T |
G |
2: 124,957,377 (GRCm39) |
D126A |
probably damaging |
Het |
| Net1 |
A |
G |
13: 3,937,569 (GRCm39) |
|
probably null |
Het |
| Nnmt |
A |
T |
9: 48,503,660 (GRCm39) |
M122K |
probably benign |
Het |
| Nos1 |
A |
G |
5: 118,087,849 (GRCm39) |
K1371E |
probably benign |
Het |
| Nrcam |
G |
C |
12: 44,636,931 (GRCm39) |
W1121C |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,877,409 (GRCm39) |
S511P |
|
Het |
| Or10w1 |
C |
A |
19: 13,632,414 (GRCm39) |
A207E |
probably damaging |
Het |
| Or1j17 |
G |
T |
2: 36,578,778 (GRCm39) |
V255F |
probably benign |
Het |
| Or2k2 |
T |
C |
4: 58,785,585 (GRCm39) |
I46V |
possibly damaging |
Het |
| Or4a73 |
A |
G |
2: 89,421,261 (GRCm39) |
F66S |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,790,860 (GRCm39) |
K66E |
probably damaging |
Het |
| Paqr4 |
A |
G |
17: 23,956,656 (GRCm39) |
W236R |
probably damaging |
Het |
| Parm1 |
A |
G |
5: 91,760,923 (GRCm39) |
Y265C |
probably damaging |
Het |
| Pcbp2 |
T |
C |
15: 102,392,628 (GRCm39) |
Y178H |
probably damaging |
Het |
| Pidd1 |
G |
A |
7: 141,021,678 (GRCm39) |
P261S |
probably damaging |
Het |
| Pik3r6 |
T |
C |
11: 68,442,159 (GRCm39) |
V705A |
possibly damaging |
Het |
| Pla2g15 |
G |
T |
8: 106,887,275 (GRCm39) |
V156F |
possibly damaging |
Het |
| Prpf6 |
G |
A |
2: 181,289,137 (GRCm39) |
V609M |
possibly damaging |
Het |
| Resf1 |
A |
G |
6: 149,226,965 (GRCm39) |
N4D |
possibly damaging |
Het |
| Rprd2 |
A |
G |
3: 95,679,505 (GRCm39) |
V491A |
probably benign |
Het |
| Rtp3 |
T |
A |
9: 110,818,600 (GRCm39) |
H27L |
probably damaging |
Het |
| Sema5b |
G |
A |
16: 35,443,121 (GRCm39) |
R42Q |
possibly damaging |
Het |
| Serpina3f |
A |
G |
12: 104,183,743 (GRCm39) |
K202E |
probably damaging |
Het |
| Slc25a33 |
T |
G |
4: 149,833,767 (GRCm39) |
M168L |
probably benign |
Het |
| Slc7a8 |
A |
G |
14: 54,964,341 (GRCm39) |
C371R |
probably damaging |
Het |
| Smyd1 |
T |
C |
6: 71,192,808 (GRCm39) |
N467S |
probably benign |
Het |
| Sptbn4 |
A |
G |
7: 27,107,807 (GRCm39) |
W872R |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,152,009 (GRCm39) |
I5766N |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,986,760 (GRCm39) |
S1699G |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,908,047 (GRCm39) |
D423G |
possibly damaging |
Het |
| Tcf19 |
A |
T |
17: 35,825,792 (GRCm39) |
F122I |
probably damaging |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,221 (GRCm39) |
T173S |
probably benign |
Het |
| Trappc8 |
T |
A |
18: 20,983,975 (GRCm39) |
H681L |
possibly damaging |
Het |
| Trim36 |
A |
G |
18: 46,308,623 (GRCm39) |
F413S |
probably benign |
Het |
| Tsks |
A |
G |
7: 44,605,931 (GRCm39) |
T466A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,820 (GRCm39) |
I545V |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,159,024 (GRCm39) |
E1170G |
probably benign |
Het |
| Usp29 |
A |
G |
7: 6,964,396 (GRCm39) |
R80G |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,282,225 (GRCm39) |
R3258H |
probably damaging |
Het |
| Vmn1r13 |
T |
G |
6: 57,187,549 (GRCm39) |
V236G |
probably benign |
Het |
| Vmn1r33 |
T |
A |
6: 66,589,002 (GRCm39) |
D184V |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,315,794 (GRCm39) |
N91D |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,774,644 (GRCm39) |
|
probably null |
Het |
| Zan |
G |
A |
5: 137,461,636 (GRCm39) |
P1181L |
unknown |
Het |
| Zbtb47 |
C |
A |
9: 121,591,990 (GRCm39) |
Y103* |
probably null |
Het |
| Zfc3h1 |
C |
A |
10: 115,259,362 (GRCm39) |
L1645I |
possibly damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,302,191 (GRCm39) |
P1931Q |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,113,128 (GRCm39) |
K423E |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,780,515 (GRCm39) |
H512Q |
|
Het |
| Zfp7 |
G |
A |
15: 76,774,531 (GRCm39) |
R191H |
probably benign |
Het |
| Zfp771 |
A |
T |
7: 126,844,301 (GRCm39) |
K46* |
probably null |
Het |
| Zkscan8 |
T |
C |
13: 21,704,763 (GRCm39) |
E392G |
probably 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 |
|
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 |
|
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'- CCTTTTCACCTGGACATGTAAGAC -3'
(R):5'- AGCTTAGCCTGGTGTGGTAAC -3'
Sequencing Primer
(F):5'- GTAAGACATGATCATTCTGGTTACAG -3'
(R):5'- AGCCTGGTGTGGTAACGAATG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation