Incidental Mutation 'IGL03028:Cwf19l2'
| ID |
408301 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cwf19l2
|
| Ensembl Gene |
ENSMUSG00000025898 |
| Gene Name |
CWF19 like cell cycle control factor 2 |
| Synonyms |
3230401L03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
IGL03028
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
3403592-3479236 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3430622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 318
(E318G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027027]
|
| AlphaFold |
Q8BG79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027027
AA Change: E318G
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027027
Gene: ENSMUSG00000025898
AA Change: E318G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212128
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
A |
C |
9: 53,506,062 (GRCm39) |
V86G |
probably benign |
Het |
| Adgra3 |
A |
T |
5: 50,174,194 (GRCm39) |
W115R |
probably benign |
Het |
| Ahr |
G |
A |
12: 35,554,709 (GRCm39) |
A470V |
probably benign |
Het |
| Aoah |
A |
T |
13: 21,000,752 (GRCm39) |
Q62L |
possibly damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,937,524 (GRCm39) |
D100E |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,570,038 (GRCm39) |
N120D |
probably benign |
Het |
| Atp2b2 |
A |
G |
6: 113,736,103 (GRCm39) |
L988P |
probably damaging |
Het |
| Atxn2 |
T |
A |
5: 121,948,972 (GRCm39) |
H789Q |
probably damaging |
Het |
| Clk1 |
G |
T |
1: 58,460,261 (GRCm39) |
S123* |
probably null |
Het |
| Col10a1 |
C |
T |
10: 34,271,012 (GRCm39) |
A328V |
probably benign |
Het |
| Col26a1 |
G |
T |
5: 136,771,972 (GRCm39) |
D415E |
possibly damaging |
Het |
| Ctla2a |
A |
G |
13: 61,083,273 (GRCm39) |
|
probably benign |
Het |
| Dnajc16 |
C |
T |
4: 141,495,043 (GRCm39) |
W523* |
probably null |
Het |
| Ehhadh |
T |
C |
16: 21,581,144 (GRCm39) |
E616G |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,020,569 (GRCm39) |
K1015* |
probably null |
Het |
| Fam78a |
A |
G |
2: 31,972,894 (GRCm39) |
W9R |
possibly damaging |
Het |
| Frs2 |
A |
T |
10: 116,909,838 (GRCm39) |
M508K |
possibly damaging |
Het |
| Gm3164 |
A |
T |
14: 4,440,111 (GRCm38) |
M200L |
probably benign |
Het |
| Gm44511 |
T |
C |
6: 128,757,358 (GRCm39) |
S179G |
probably damaging |
Het |
| Gpr25 |
G |
A |
1: 136,188,550 (GRCm39) |
S21L |
probably benign |
Het |
| Hsdl2 |
A |
G |
4: 59,594,471 (GRCm39) |
D34G |
probably damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,799,215 (GRCm39) |
|
probably null |
Het |
| Kl |
A |
G |
5: 150,915,015 (GRCm39) |
Y914C |
probably damaging |
Het |
| Map3k3 |
T |
G |
11: 106,001,577 (GRCm39) |
V45G |
probably damaging |
Het |
| Mppe1 |
A |
C |
18: 67,360,755 (GRCm39) |
C261W |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,082,044 (GRCm39) |
T1640A |
probably benign |
Het |
| Or51a8 |
T |
A |
7: 102,550,036 (GRCm39) |
I154N |
possibly damaging |
Het |
| Or51ac3 |
A |
G |
7: 103,213,796 (GRCm39) |
|
probably null |
Het |
| Or5c1 |
C |
T |
2: 37,221,968 (GRCm39) |
L70F |
probably damaging |
Het |
| Or5p59 |
T |
A |
7: 107,703,380 (GRCm39) |
M288K |
probably damaging |
Het |
| Or7g26 |
A |
T |
9: 19,230,664 (GRCm39) |
Y284F |
probably damaging |
Het |
| Oxr1 |
A |
G |
15: 41,680,559 (GRCm39) |
N166D |
probably damaging |
Het |
| Pank4 |
T |
A |
4: 155,054,442 (GRCm39) |
|
probably benign |
Het |
| Pgd |
A |
G |
4: 149,246,084 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
C |
T |
13: 6,624,429 (GRCm39) |
H831Y |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Rad51 |
A |
C |
2: 118,946,795 (GRCm39) |
M1L |
possibly damaging |
Het |
| Recql5 |
G |
T |
11: 115,785,257 (GRCm39) |
S746R |
possibly damaging |
Het |
| Rhbdl3 |
C |
T |
11: 80,214,287 (GRCm39) |
Q133* |
probably null |
Het |
| Rpp40 |
A |
T |
13: 36,088,494 (GRCm39) |
L59Q |
probably damaging |
Het |
| Rtca |
C |
A |
3: 116,286,741 (GRCm39) |
|
probably benign |
Het |
| Rtkn |
C |
T |
6: 83,124,853 (GRCm39) |
Q108* |
probably null |
Het |
| Shoc1 |
A |
C |
4: 59,094,274 (GRCm39) |
I150S |
possibly damaging |
Het |
| Sirt6 |
C |
T |
10: 81,463,375 (GRCm39) |
|
probably benign |
Het |
| Slc9a4 |
G |
A |
1: 40,649,537 (GRCm39) |
V517M |
probably benign |
Het |
| Smarca2 |
G |
T |
19: 26,655,712 (GRCm39) |
|
probably benign |
Het |
| Snx33 |
A |
T |
9: 56,833,735 (GRCm39) |
D111E |
probably benign |
Het |
| Tgfb1 |
T |
C |
7: 25,403,621 (GRCm39) |
I311T |
probably damaging |
Het |
| Tgfb2 |
C |
T |
1: 186,362,806 (GRCm39) |
|
probably null |
Het |
| Tmem232 |
T |
C |
17: 65,563,384 (GRCm39) |
T670A |
probably benign |
Het |
| Tnfsf4 |
T |
C |
1: 161,223,213 (GRCm39) |
F21L |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,047,837 (GRCm39) |
T47A |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,139,785 (GRCm39) |
V2515A |
possibly damaging |
Het |
| Utp6 |
T |
C |
11: 79,844,450 (GRCm39) |
K192E |
probably damaging |
Het |
| Vmn2r102 |
T |
C |
17: 19,914,328 (GRCm39) |
F631S |
possibly damaging |
Het |
| Zfp516 |
A |
C |
18: 82,974,038 (GRCm39) |
I79L |
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 |
|
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 |
|
R7900:Cwf19l2
|
UTSW |
9 |
3,460,107 (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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation