Incidental Mutation 'R3879:Ccnl1'
| ID |
308668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccnl1
|
| Ensembl Gene |
ENSMUSG00000027829 |
| Gene Name |
cyclin L1 |
| Synonyms |
ania-6a, 2610030E23Rik |
| MMRRC Submission |
040793-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.669)
|
| Stock # |
R3879 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
65853572-65865670 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65856179 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 242
(V242A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029416]
[ENSMUST00000129002]
[ENSMUST00000135719]
[ENSMUST00000154585]
|
| AlphaFold |
Q52KE7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029416
AA Change: V242A
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029416
Gene: ENSMUSG00000027829
AA Change: V242A
| 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: ENSMUST00000150304
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148623
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149160
|
| 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
|
| Meta Mutation Damage Score |
0.1256 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
T |
C |
3: 89,970,561 (GRCm39) |
|
probably benign |
Het |
| Aass |
G |
A |
6: 23,122,520 (GRCm39) |
H68Y |
probably damaging |
Het |
| Abcc8 |
T |
A |
7: 45,754,051 (GRCm39) |
K1588N |
possibly damaging |
Het |
| Calcoco1 |
T |
C |
15: 102,615,823 (GRCm39) |
D601G |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,182,792 (GRCm39) |
R409I |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,029 (GRCm39) |
F705L |
probably damaging |
Het |
| Cyp46a1 |
A |
G |
12: 108,324,389 (GRCm39) |
T389A |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,360 (GRCm39) |
|
probably benign |
Het |
| Gm9894 |
T |
C |
13: 67,912,916 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,837,436 (GRCm39) |
V1262E |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,092,780 (GRCm39) |
T1245A |
probably damaging |
Het |
| Or10ad1b |
C |
T |
15: 98,125,085 (GRCm39) |
C147Y |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,613 (GRCm39) |
Y236C |
probably damaging |
Het |
| Pcif1 |
G |
A |
2: 164,727,878 (GRCm39) |
G189D |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,375,594 (GRCm39) |
S1514P |
probably damaging |
Het |
| Pigu |
A |
T |
2: 155,141,063 (GRCm39) |
F276I |
probably damaging |
Het |
| Pramex1 |
T |
C |
X: 134,514,194 (GRCm39) |
H365R |
probably benign |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Rasgrp2 |
A |
T |
19: 6,463,920 (GRCm39) |
Q539H |
probably benign |
Het |
| Rgs22 |
T |
G |
15: 36,107,051 (GRCm39) |
I112L |
possibly damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,696,969 (GRCm39) |
T786S |
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,192,752 (GRCm39) |
|
probably benign |
Het |
| St7l |
G |
A |
3: 104,833,763 (GRCm39) |
V475I |
probably damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Top3a |
A |
G |
11: 60,634,765 (GRCm39) |
V713A |
possibly damaging |
Het |
| Trim16 |
G |
A |
11: 62,731,433 (GRCm39) |
G348S |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,962 (GRCm39) |
Q984* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,566,406 (GRCm39) |
|
probably null |
Het |
| Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
A |
T |
4: 62,109,572 (GRCm39) |
Y497* |
probably null |
Het |
| Zfp462 |
G |
A |
4: 55,060,095 (GRCm39) |
C1207Y |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,403,476 (GRCm39) |
E644G |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTTCTGTGGTACCAAACAG -3'
(R):5'- GCGGCTTTGGGAGTAAGATC -3'
Sequencing Primer
(F):5'- TTCTGTGGTACCAAACAGAAGAAAC -3'
(R):5'- AGAATTACTTAAAGTGCTGTGGGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation