Incidental Mutation 'IGL02454:Ccnl1'
| ID |
293757 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccnl1
|
| Ensembl Gene |
ENSMUSG00000027829 |
| Gene Name |
cyclin L1 |
| Synonyms |
ania-6a, 2610030E23Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.712)
|
| Stock # |
IGL02454
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
65853572-65865670 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 65864318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 122
(D122E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029416]
[ENSMUST00000129002]
[ENSMUST00000135719]
[ENSMUST00000154585]
|
| AlphaFold |
Q52KE7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029416
AA Change: D154E
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029416
Gene: ENSMUSG00000027829
AA Change: D154E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
45 |
N/A |
INTRINSIC |
|
CYCLIN
|
94 |
196 |
3.55e-11 |
SMART |
|
Cyclin_C
|
205 |
320 |
7.79e-5 |
SMART |
|
CYCLIN
|
209 |
293 |
9.01e-13 |
SMART |
|
low complexity region
|
386 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
532 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122919
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129002
AA Change: D154E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118377
Gene: ENSMUSG00000027829
AA Change: D154E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
45 |
N/A |
INTRINSIC |
|
CYCLIN
|
94 |
174 |
3.93e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135719
AA Change: D122E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118394
Gene: ENSMUSG00000027829
AA Change: D122E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
CYCLIN
|
62 |
142 |
3.93e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142153
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144810
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145186
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154585
AA Change: D154E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119229
Gene: ENSMUSG00000027829
AA Change: D154E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
45 |
N/A |
INTRINSIC |
|
CYCLIN
|
94 |
174 |
3.93e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148623
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195714
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amz2 |
T |
G |
11: 109,324,887 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,051,560 (GRCm39) |
F1104S |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,579,141 (GRCm39) |
N1610S |
probably damaging |
Het |
| Crtc2 |
G |
A |
3: 90,166,474 (GRCm39) |
G65S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,971,593 (GRCm39) |
T2160A |
probably damaging |
Het |
| Fads3 |
T |
G |
19: 10,032,483 (GRCm39) |
L278R |
probably damaging |
Het |
| Foxp4 |
A |
T |
17: 48,186,507 (GRCm39) |
L424* |
probably null |
Het |
| Gm10392 |
A |
T |
11: 77,409,216 (GRCm39) |
E310V |
probably damaging |
Het |
| Gm11554 |
T |
A |
11: 99,694,815 (GRCm39) |
S133C |
unknown |
Het |
| Hacd2 |
T |
A |
16: 34,926,761 (GRCm39) |
F253L |
probably benign |
Het |
| Il3ra |
T |
C |
14: 14,351,113 (GRCm38) |
S212P |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,694,674 (GRCm39) |
|
probably null |
Het |
| Mtfr1l |
A |
T |
4: 134,257,696 (GRCm39) |
L111H |
probably damaging |
Het |
| Mysm1 |
A |
G |
4: 94,858,741 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
C |
A |
1: 173,098,507 (GRCm39) |
S255Y |
probably damaging |
Het |
| Or52d1 |
T |
C |
7: 103,755,819 (GRCm39) |
V111A |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,075,231 (GRCm39) |
F357I |
probably damaging |
Het |
| Polr3a |
C |
A |
14: 24,525,891 (GRCm39) |
V450L |
possibly damaging |
Het |
| Prkd1 |
T |
C |
12: 50,411,456 (GRCm39) |
K764R |
probably benign |
Het |
| Pxn |
C |
T |
5: 115,690,325 (GRCm39) |
P256S |
probably damaging |
Het |
| Rbm25 |
T |
A |
12: 83,707,096 (GRCm39) |
F247L |
probably benign |
Het |
| Rfx4 |
C |
T |
10: 84,675,970 (GRCm39) |
T62M |
possibly damaging |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,499 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
A |
G |
9: 119,587,610 (GRCm39) |
I1378T |
probably benign |
Het |
| Siglecg |
T |
C |
7: 43,058,319 (GRCm39) |
S69P |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,503,605 (GRCm39) |
Y61C |
probably damaging |
Het |
| Tex55 |
T |
A |
16: 38,648,309 (GRCm39) |
T267S |
probably benign |
Het |
| Tnks |
C |
T |
8: 35,298,882 (GRCm39) |
|
probably benign |
Het |
| Tpr |
A |
G |
1: 150,306,943 (GRCm39) |
S1587G |
probably benign |
Het |
| Trappc6b |
A |
G |
12: 59,090,433 (GRCm39) |
*97Q |
probably null |
Het |
| Usf3 |
T |
C |
16: 44,037,545 (GRCm39) |
V675A |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,929,299 (GRCm39) |
T1045M |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,552,254 (GRCm39) |
C618S |
probably benign |
Het |
| Zfp398 |
T |
C |
6: 47,817,301 (GRCm39) |
V47A |
possibly damaging |
Het |
| Zzz3 |
A |
G |
3: 152,134,211 (GRCm39) |
N423S |
probably benign |
Het |
|
| Other mutations in Ccnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01969:Ccnl1
|
APN |
3 |
65,855,908 (GRCm39) |
splice site |
probably benign |
|
|
IGL02353:Ccnl1
|
APN |
3 |
65,856,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02360:Ccnl1
|
APN |
3 |
65,856,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Ccnl1
|
UTSW |
3 |
65,854,191 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1903:Ccnl1
|
UTSW |
3 |
65,854,332 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2392:Ccnl1
|
UTSW |
3 |
65,856,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3879:Ccnl1
|
UTSW |
3 |
65,856,179 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4607:Ccnl1
|
UTSW |
3 |
65,854,131 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4608:Ccnl1
|
UTSW |
3 |
65,854,131 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4739:Ccnl1
|
UTSW |
3 |
65,854,092 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4885:Ccnl1
|
UTSW |
3 |
65,864,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5833:Ccnl1
|
UTSW |
3 |
65,855,922 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5933:Ccnl1
|
UTSW |
3 |
65,855,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6933:Ccnl1
|
UTSW |
3 |
65,855,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7425:Ccnl1
|
UTSW |
3 |
65,856,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Ccnl1
|
UTSW |
3 |
65,864,326 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7988:Ccnl1
|
UTSW |
3 |
65,865,282 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7990:Ccnl1
|
UTSW |
3 |
65,854,314 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8137:Ccnl1
|
UTSW |
3 |
65,865,291 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8690:Ccnl1
|
UTSW |
3 |
65,855,165 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8736:Ccnl1
|
UTSW |
3 |
65,865,447 (GRCm39) |
missense |
unknown |
|
|
R8865:Ccnl1
|
UTSW |
3 |
65,854,269 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8914:Ccnl1
|
UTSW |
3 |
65,854,080 (GRCm39) |
missense |
unknown |
|
|
R9186:Ccnl1
|
UTSW |
3 |
65,865,426 (GRCm39) |
missense |
unknown |
|
|
R9612:Ccnl1
|
UTSW |
3 |
65,865,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation