Incidental Mutation 'IGL01969:Ccnl1'
| ID |
181642 |
| 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: 0.669)
|
| Stock # |
IGL01969
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
65853572-65865670 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 65855908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029416]
[ENSMUST00000129002]
[ENSMUST00000135719]
[ENSMUST00000154585]
|
| AlphaFold |
Q52KE7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029416
|
| SMART Domains |
Protein: ENSMUSP00000029416
Gene: ENSMUSG00000027829
| 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 benign
Transcript: ENSMUST00000129002
|
| SMART Domains |
Protein: ENSMUSP00000118377
Gene: ENSMUSG00000027829
| 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: ENSMUST00000132998
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135719
|
| SMART Domains |
Protein: ENSMUSP00000118394
Gene: ENSMUSG00000027829
| 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: ENSMUST00000154585
|
| SMART Domains |
Protein: ENSMUSP00000119229
Gene: ENSMUSG00000027829
| 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: ENSMUST00000149729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148623
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149160
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145186
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
A |
8: 124,207,170 (GRCm39) |
P74H |
probably damaging |
Het |
| Aire |
T |
A |
10: 77,878,816 (GRCm39) |
D77V |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,746,872 (GRCm39) |
H571L |
possibly damaging |
Het |
| Apol10b |
T |
C |
15: 77,472,885 (GRCm39) |
|
probably null |
Het |
| Cacna2d2 |
A |
T |
9: 107,386,415 (GRCm39) |
M181L |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,760,138 (GRCm39) |
E1961G |
possibly damaging |
Het |
| Dnajc12 |
C |
A |
10: 63,231,609 (GRCm39) |
H42N |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,753,409 (GRCm39) |
V248A |
possibly damaging |
Het |
| Epha10 |
A |
C |
4: 124,779,670 (GRCm39) |
K172T |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,636 (GRCm39) |
Y796H |
probably damaging |
Het |
| Gpr176 |
A |
C |
2: 118,110,118 (GRCm39) |
F380L |
probably damaging |
Het |
| Guca1a |
A |
T |
17: 47,711,268 (GRCm39) |
M26K |
probably damaging |
Het |
| Gucy2g |
T |
G |
19: 55,215,870 (GRCm39) |
M501L |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,835,579 (GRCm39) |
|
probably benign |
Het |
| Itgav |
A |
G |
2: 83,633,627 (GRCm39) |
E1028G |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,354,652 (GRCm39) |
T179A |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,538,502 (GRCm39) |
T383A |
probably benign |
Het |
| Midn |
A |
G |
10: 79,991,093 (GRCm39) |
T325A |
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,276,961 (GRCm39) |
Y788H |
probably damaging |
Het |
| Muc1 |
A |
T |
3: 89,139,313 (GRCm39) |
D571V |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,302,499 (GRCm39) |
H316L |
probably benign |
Het |
| Nagpa |
T |
C |
16: 5,013,753 (GRCm39) |
K362E |
probably benign |
Het |
| Ola1 |
G |
A |
2: 72,930,490 (GRCm39) |
A266V |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,435 (GRCm39) |
N172S |
possibly damaging |
Het |
| Or4a47 |
A |
G |
2: 89,666,064 (GRCm39) |
I75T |
probably benign |
Het |
| Or5b97 |
C |
A |
19: 12,878,416 (GRCm39) |
A243S |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,539,827 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
C |
16: 17,196,347 (GRCm39) |
V105G |
probably benign |
Het |
| Plppr4 |
G |
T |
3: 117,122,008 (GRCm39) |
T190K |
probably damaging |
Het |
| Pnpla3 |
G |
A |
15: 84,063,425 (GRCm39) |
A268T |
probably benign |
Het |
| Ppp6r2 |
C |
T |
15: 89,159,713 (GRCm39) |
H467Y |
probably damaging |
Het |
| Prkd2 |
C |
T |
7: 16,599,682 (GRCm39) |
T715M |
probably damaging |
Het |
| Rusc2 |
A |
G |
4: 43,415,738 (GRCm39) |
N348S |
probably benign |
Het |
| Ska3 |
A |
G |
14: 58,049,119 (GRCm39) |
V284A |
probably benign |
Het |
| Slc23a1 |
A |
T |
18: 35,757,807 (GRCm39) |
V199D |
possibly damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,312,601 (GRCm39) |
L445P |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,755,171 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
A |
G |
1: 36,864,541 (GRCm39) |
L564S |
possibly damaging |
Het |
| Ttc23l |
G |
A |
15: 10,551,520 (GRCm39) |
Q69* |
probably null |
Het |
|
| Other mutations in Ccnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02454:Ccnl1
|
APN |
3 |
65,864,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-05-07 |
Incidental Mutation