Incidental Mutation 'R7900:Cwf19l2'
ID |
609946 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cwf19l2
|
Ensembl Gene |
ENSMUSG00000025898 |
Gene Name |
CWF19 like cell cycle control factor 2 |
Synonyms |
3230401L03Rik |
MMRRC Submission |
045952-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.934)
|
Stock # |
R7900 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
3403592-3479236 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 3460107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 798
(L798F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027027]
|
AlphaFold |
Q8BG79 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027027
AA Change: L798F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000027027 Gene: ENSMUSG00000025898 AA Change: L798F
Domain | Start | End | E-Value | Type |
low complexity region
|
64 |
114 |
N/A |
INTRINSIC |
coiled coil region
|
165 |
196 |
N/A |
INTRINSIC |
low complexity region
|
403 |
418 |
N/A |
INTRINSIC |
coiled coil region
|
496 |
524 |
N/A |
INTRINSIC |
Pfam:CwfJ_C_1
|
655 |
779 |
1.8e-40 |
PFAM |
Pfam:CwfJ_C_2
|
788 |
882 |
4.6e-34 |
PFAM |
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
Adamtsl5 |
A |
G |
10: 80,177,735 (GRCm39) |
F309S |
probably damaging |
Het |
Ankle1 |
C |
T |
8: 71,860,061 (GRCm39) |
T213I |
probably damaging |
Het |
C4b |
A |
G |
17: 34,958,751 (GRCm39) |
S528P |
probably benign |
Het |
Camk2a |
A |
G |
18: 61,090,438 (GRCm39) |
Y222C |
probably damaging |
Het |
Cnst |
A |
G |
1: 179,450,453 (GRCm39) |
D639G |
probably damaging |
Het |
Ctbp2 |
A |
C |
7: 132,616,328 (GRCm39) |
S202R |
probably benign |
Het |
Cyp11a1 |
T |
A |
9: 57,923,667 (GRCm39) |
V124E |
possibly damaging |
Het |
Ddx3y |
C |
T |
Y: 1,266,594 (GRCm39) |
|
probably null |
Het |
Dlst |
G |
T |
12: 85,177,292 (GRCm39) |
R346L |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,409,254 (GRCm39) |
S375P |
probably damaging |
Het |
Dnm3 |
T |
A |
1: 162,182,940 (GRCm39) |
Y125F |
probably benign |
Het |
Dock9 |
C |
T |
14: 121,783,491 (GRCm39) |
A2011T |
possibly damaging |
Het |
Efr3a |
T |
A |
15: 65,719,984 (GRCm39) |
|
probably null |
Het |
Egln1 |
A |
T |
8: 125,640,879 (GRCm39) |
I319N |
possibly damaging |
Het |
Gata3 |
T |
A |
2: 9,863,461 (GRCm39) |
N351I |
probably damaging |
Het |
Gjd3 |
T |
C |
11: 102,690,920 (GRCm39) |
N361S |
probably benign |
Het |
Gpcpd1 |
T |
C |
2: 132,376,659 (GRCm39) |
T546A |
probably damaging |
Het |
Gpihbp1 |
T |
C |
15: 75,469,791 (GRCm39) |
F169L |
probably benign |
Het |
Gpnmb |
A |
T |
6: 49,027,400 (GRCm39) |
I375L |
possibly damaging |
Het |
Itpka |
A |
T |
2: 119,580,994 (GRCm39) |
T381S |
probably benign |
Het |
Lhx4 |
T |
C |
1: 155,617,709 (GRCm39) |
|
probably benign |
Het |
Lrguk |
T |
C |
6: 34,106,129 (GRCm39) |
L718P |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nr1d1 |
T |
A |
11: 98,660,537 (GRCm39) |
T477S |
probably benign |
Het |
Nxnl1 |
A |
T |
8: 72,019,170 (GRCm39) |
D18E |
probably damaging |
Het |
Onecut2 |
G |
T |
18: 64,474,658 (GRCm39) |
R403L |
probably damaging |
Het |
Or51v14 |
T |
C |
7: 103,260,900 (GRCm39) |
Y220C |
possibly damaging |
Het |
Or5an1 |
T |
A |
19: 12,260,705 (GRCm39) |
C98S |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,258,858 (GRCm39) |
T1177A |
possibly damaging |
Het |
Prkd2 |
T |
C |
7: 16,587,269 (GRCm39) |
V405A |
probably benign |
Het |
Ranbp1 |
T |
C |
16: 18,063,161 (GRCm39) |
T72A |
probably damaging |
Het |
Retnla |
A |
C |
16: 48,663,977 (GRCm39) |
R90S |
probably benign |
Het |
Sec31b |
A |
T |
19: 44,514,669 (GRCm39) |
I385N |
probably damaging |
Het |
Slc6a19 |
C |
T |
13: 73,848,583 (GRCm39) |
R57H |
probably damaging |
Het |
Smurf1 |
T |
C |
5: 144,836,183 (GRCm39) |
D110G |
probably damaging |
Het |
Specc1 |
A |
G |
11: 62,110,187 (GRCm39) |
Y975C |
probably damaging |
Het |
Tas2r136 |
T |
A |
6: 132,754,599 (GRCm39) |
N176I |
possibly damaging |
Het |
Tecrl |
A |
C |
5: 83,427,188 (GRCm39) |
V320G |
probably benign |
Het |
Tmem245 |
A |
G |
4: 56,924,973 (GRCm39) |
|
probably null |
Het |
Tpd52l1 |
T |
A |
10: 31,214,178 (GRCm39) |
|
probably null |
Het |
Trbv2 |
A |
G |
6: 41,024,908 (GRCm39) |
Y108C |
probably damaging |
Het |
Trpm7 |
T |
C |
2: 126,639,418 (GRCm39) |
M1689V |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,266,597 (GRCm39) |
Y1855C |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,384,354 (GRCm39) |
S721R |
possibly damaging |
Het |
Vwf |
G |
A |
6: 125,605,439 (GRCm39) |
|
probably null |
Het |
Washc4 |
T |
A |
10: 83,409,637 (GRCm39) |
|
probably null |
Het |
Yeats4 |
G |
A |
10: 117,056,464 (GRCm39) |
H71Y |
possibly damaging |
Het |
Zbtb38 |
A |
C |
9: 96,570,989 (GRCm39) |
L32V |
probably damaging |
Het |
Zfy1 |
T |
C |
Y: 725,519 (GRCm39) |
T749A |
possibly damaging |
Het |
|
Other mutations in Cwf19l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:Cwf19l2
|
APN |
9 |
3,409,990 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00573:Cwf19l2
|
APN |
9 |
3,450,161 (GRCm39) |
splice site |
probably benign |
|
IGL00757:Cwf19l2
|
APN |
9 |
3,460,054 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00803:Cwf19l2
|
APN |
9 |
3,430,810 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01916:Cwf19l2
|
APN |
9 |
3,477,869 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02315:Cwf19l2
|
APN |
9 |
3,410,030 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02419:Cwf19l2
|
APN |
9 |
3,418,777 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02427:Cwf19l2
|
APN |
9 |
3,456,817 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03026:Cwf19l2
|
APN |
9 |
3,428,777 (GRCm39) |
missense |
probably benign |
0.28 |
IGL03028:Cwf19l2
|
APN |
9 |
3,430,622 (GRCm39) |
missense |
probably benign |
0.26 |
IGL03199:Cwf19l2
|
APN |
9 |
3,477,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R0015:Cwf19l2
|
UTSW |
9 |
3,454,666 (GRCm39) |
missense |
probably benign |
0.00 |
R0015:Cwf19l2
|
UTSW |
9 |
3,454,666 (GRCm39) |
missense |
probably benign |
0.00 |
R0532:Cwf19l2
|
UTSW |
9 |
3,431,057 (GRCm39) |
missense |
probably benign |
0.38 |
R0724:Cwf19l2
|
UTSW |
9 |
3,421,377 (GRCm39) |
critical splice donor site |
probably null |
|
R0924:Cwf19l2
|
UTSW |
9 |
3,441,047 (GRCm39) |
splice site |
probably benign |
|
R0947:Cwf19l2
|
UTSW |
9 |
3,421,286 (GRCm39) |
missense |
probably benign |
0.16 |
R1210:Cwf19l2
|
UTSW |
9 |
3,430,810 (GRCm39) |
missense |
probably benign |
0.00 |
R1393:Cwf19l2
|
UTSW |
9 |
3,456,818 (GRCm39) |
missense |
probably benign |
0.01 |
R1541:Cwf19l2
|
UTSW |
9 |
3,456,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R1594:Cwf19l2
|
UTSW |
9 |
3,430,973 (GRCm39) |
missense |
probably benign |
|
R1870:Cwf19l2
|
UTSW |
9 |
3,458,802 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1950:Cwf19l2
|
UTSW |
9 |
3,418,674 (GRCm39) |
missense |
probably benign |
|
R1996:Cwf19l2
|
UTSW |
9 |
3,417,947 (GRCm39) |
missense |
probably benign |
0.01 |
R2005:Cwf19l2
|
UTSW |
9 |
3,430,720 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2246:Cwf19l2
|
UTSW |
9 |
3,430,661 (GRCm39) |
missense |
probably benign |
0.16 |
R2420:Cwf19l2
|
UTSW |
9 |
3,411,341 (GRCm39) |
missense |
possibly damaging |
0.80 |
R3051:Cwf19l2
|
UTSW |
9 |
3,410,006 (GRCm39) |
missense |
probably benign |
0.05 |
R3738:Cwf19l2
|
UTSW |
9 |
3,456,803 (GRCm39) |
missense |
probably benign |
0.01 |
R3915:Cwf19l2
|
UTSW |
9 |
3,456,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R4034:Cwf19l2
|
UTSW |
9 |
3,456,803 (GRCm39) |
missense |
probably benign |
0.01 |
R4035:Cwf19l2
|
UTSW |
9 |
3,456,803 (GRCm39) |
missense |
probably benign |
0.01 |
R4323:Cwf19l2
|
UTSW |
9 |
3,430,452 (GRCm39) |
missense |
probably damaging |
0.99 |
R4328:Cwf19l2
|
UTSW |
9 |
3,458,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R4329:Cwf19l2
|
UTSW |
9 |
3,458,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R4692:Cwf19l2
|
UTSW |
9 |
3,428,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Cwf19l2
|
UTSW |
9 |
3,430,973 (GRCm39) |
missense |
probably benign |
|
R4779:Cwf19l2
|
UTSW |
9 |
3,410,035 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4822:Cwf19l2
|
UTSW |
9 |
3,458,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R4833:Cwf19l2
|
UTSW |
9 |
3,430,783 (GRCm39) |
missense |
probably benign |
0.28 |
R5110:Cwf19l2
|
UTSW |
9 |
3,450,012 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5120:Cwf19l2
|
UTSW |
9 |
3,418,761 (GRCm39) |
nonsense |
probably null |
|
R5164:Cwf19l2
|
UTSW |
9 |
3,475,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R5440:Cwf19l2
|
UTSW |
9 |
3,475,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R5567:Cwf19l2
|
UTSW |
9 |
3,456,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R5594:Cwf19l2
|
UTSW |
9 |
3,418,773 (GRCm39) |
missense |
probably benign |
0.42 |
R5960:Cwf19l2
|
UTSW |
9 |
3,411,404 (GRCm39) |
missense |
probably benign |
0.43 |
R6222:Cwf19l2
|
UTSW |
9 |
3,454,569 (GRCm39) |
nonsense |
probably null |
|
R6259:Cwf19l2
|
UTSW |
9 |
3,458,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R6688:Cwf19l2
|
UTSW |
9 |
3,450,015 (GRCm39) |
missense |
probably benign |
0.00 |
R6983:Cwf19l2
|
UTSW |
9 |
3,477,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R7063:Cwf19l2
|
UTSW |
9 |
3,430,532 (GRCm39) |
missense |
probably benign |
0.03 |
R7506:Cwf19l2
|
UTSW |
9 |
3,456,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R7733:Cwf19l2
|
UTSW |
9 |
3,450,066 (GRCm39) |
missense |
probably benign |
0.19 |
R7846:Cwf19l2
|
UTSW |
9 |
3,477,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R8510:Cwf19l2
|
UTSW |
9 |
3,454,732 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8709:Cwf19l2
|
UTSW |
9 |
3,430,723 (GRCm39) |
missense |
probably benign |
0.26 |
R8900:Cwf19l2
|
UTSW |
9 |
3,447,245 (GRCm39) |
missense |
probably benign |
0.01 |
R9031:Cwf19l2
|
UTSW |
9 |
3,417,942 (GRCm39) |
missense |
probably benign |
0.00 |
R9373:Cwf19l2
|
UTSW |
9 |
3,454,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R9701:Cwf19l2
|
UTSW |
9 |
3,430,454 (GRCm39) |
missense |
probably damaging |
1.00 |
T0722:Cwf19l2
|
UTSW |
9 |
3,456,755 (GRCm39) |
missense |
probably benign |
0.00 |
X0003:Cwf19l2
|
UTSW |
9 |
3,456,755 (GRCm39) |
missense |
probably benign |
0.00 |
X0020:Cwf19l2
|
UTSW |
9 |
3,418,662 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Cwf19l2
|
UTSW |
9 |
3,428,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAGTCTATCCTATGCACTATACC -3'
(R):5'- CCCACCACATCTGATTTAGGG -3'
Sequencing Primer
(F):5'- ATCCTATGCACTATACCCAGCATTC -3'
(R):5'- CATCTGATTTAGGGATTAATAGGGC -3'
|
Posted On |
2019-12-20 |