Incidental Mutation 'IGL02353:Ccnl1'
| ID |
289566 |
| 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 # |
IGL02353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
65853572-65865670 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 65856141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 255
(C255G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029416]
[ENSMUST00000129002]
[ENSMUST00000135719]
[ENSMUST00000154585]
|
| AlphaFold |
Q52KE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029416
AA Change: C255G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029416
Gene: ENSMUSG00000027829
AA Change: C255G
| 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 |
noncoding transcript
Transcript: ENSMUST00000149729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148623
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146284
|
| 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 |
probably benign
Transcript: ENSMUST00000145186
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
A |
T |
19: 40,566,364 (GRCm39) |
V102D |
probably damaging |
Het |
| Car4 |
C |
T |
11: 84,856,593 (GRCm39) |
P294S |
probably damaging |
Het |
| Casp6 |
C |
T |
3: 129,704,175 (GRCm39) |
S87L |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,190 (GRCm39) |
E254G |
possibly damaging |
Het |
| Celf4 |
T |
C |
18: 25,619,955 (GRCm39) |
I485M |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,087 (GRCm39) |
R769G |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,387 (GRCm39) |
|
probably benign |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,171 (GRCm39) |
V360A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,824,324 (GRCm39) |
E1068G |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,433,684 (GRCm39) |
N607S |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,279,909 (GRCm39) |
I383V |
probably damaging |
Het |
| Fgd6 |
C |
T |
10: 93,974,258 (GRCm39) |
T1333I |
possibly damaging |
Het |
| Got1 |
A |
G |
19: 43,512,882 (GRCm39) |
S5P |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,764,560 (GRCm39) |
N995K |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,641,681 (GRCm39) |
F159S |
probably damaging |
Het |
| Krt87 |
T |
C |
15: 101,383,339 (GRCm39) |
S456G |
probably benign |
Het |
| Lhb |
T |
C |
7: 45,070,718 (GRCm39) |
V32A |
possibly damaging |
Het |
| Mau2 |
A |
T |
8: 70,472,288 (GRCm39) |
V602E |
probably damaging |
Het |
| Mpst |
C |
T |
15: 78,294,285 (GRCm39) |
L6F |
probably damaging |
Het |
| Nlrp2 |
G |
A |
7: 5,340,598 (GRCm39) |
T72I |
probably damaging |
Het |
| Or8g20 |
A |
G |
9: 39,396,444 (GRCm39) |
I32T |
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,569,142 (GRCm39) |
Y1239C |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,585,619 (GRCm39) |
F328S |
possibly damaging |
Het |
| Spns1 |
C |
T |
7: 125,974,312 (GRCm39) |
R94Q |
probably damaging |
Het |
| Sult2a3 |
G |
A |
7: 13,855,575 (GRCm39) |
R94* |
probably null |
Het |
| Syt16 |
A |
G |
12: 74,176,245 (GRCm39) |
N38S |
probably damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,414,179 (GRCm39) |
R180Q |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,460,635 (GRCm39) |
I2632T |
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,909,543 (GRCm39) |
I595F |
possibly damaging |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation