Incidental Mutation 'IGL01916:Cwf19l2'
| ID |
179966 |
| 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: 0.932)
|
| Stock # |
IGL01916
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
3403592-3479236 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3477869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 858
(I858T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027027]
|
| AlphaFold |
Q8BG79 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027027
AA Change: I858T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027027
Gene: ENSMUSG00000025898
AA Change: I858T
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,684,937 (GRCm39) |
T187A |
probably damaging |
Het |
| A430005L14Rik |
C |
A |
4: 154,045,997 (GRCm39) |
F214L |
possibly damaging |
Het |
| A830018L16Rik |
C |
A |
1: 11,818,331 (GRCm39) |
|
probably benign |
Het |
| Adgrd1 |
T |
C |
5: 129,209,902 (GRCm39) |
S342P |
probably benign |
Het |
| Aldh4a1 |
A |
G |
4: 139,371,457 (GRCm39) |
Y457C |
probably damaging |
Het |
| Ankrd7 |
A |
T |
6: 18,868,250 (GRCm39) |
E124V |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,003,665 (GRCm39) |
|
probably null |
Het |
| Card14 |
T |
C |
11: 119,233,971 (GRCm39) |
Y854H |
probably benign |
Het |
| Ccdc85c |
T |
C |
12: 108,174,103 (GRCm39) |
H355R |
probably damaging |
Het |
| Ccr3 |
T |
A |
9: 123,829,589 (GRCm39) |
V308D |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,567,476 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
C |
A |
8: 110,948,580 (GRCm39) |
Q297K |
probably benign |
Het |
| Col19a1 |
A |
C |
1: 24,573,322 (GRCm39) |
L150R |
unknown |
Het |
| Cyp39a1 |
C |
T |
17: 44,041,941 (GRCm39) |
P383S |
probably damaging |
Het |
| Ddi2 |
C |
T |
4: 141,422,709 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
T |
G |
11: 118,016,114 (GRCm39) |
I342L |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,048,973 (GRCm39) |
I462T |
probably damaging |
Het |
| Ephx4 |
A |
T |
5: 107,553,896 (GRCm39) |
|
probably null |
Het |
| Fam193b |
A |
G |
13: 55,698,031 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,157,366 (GRCm39) |
N2306D |
possibly damaging |
Het |
| Folr1 |
A |
T |
7: 101,507,947 (GRCm39) |
H164Q |
probably benign |
Het |
| Fut10 |
T |
C |
8: 31,725,734 (GRCm39) |
V163A |
probably benign |
Het |
| Gal3st4 |
G |
A |
5: 138,269,197 (GRCm39) |
R83C |
probably damaging |
Het |
| Galnt16 |
T |
C |
12: 80,639,264 (GRCm39) |
|
probably null |
Het |
| Gata5 |
G |
A |
2: 179,968,734 (GRCm39) |
S380F |
possibly damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm4787 |
A |
T |
12: 81,424,218 (GRCm39) |
L647M |
probably benign |
Het |
| Gvin3 |
T |
G |
7: 106,201,033 (GRCm39) |
H737P |
probably benign |
Het |
| Hcfc2 |
A |
G |
10: 82,570,217 (GRCm39) |
K523E |
possibly damaging |
Het |
| Ift70a1 |
C |
A |
2: 75,811,223 (GRCm39) |
V287L |
probably damaging |
Het |
| Igkv6-15 |
A |
T |
6: 70,383,458 (GRCm39) |
Y114* |
probably null |
Het |
| Il10ra |
A |
T |
9: 45,167,444 (GRCm39) |
L369Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,616,606 (GRCm39) |
K51R |
possibly damaging |
Het |
| Kif26a |
C |
T |
12: 112,143,328 (GRCm39) |
P1194L |
possibly damaging |
Het |
| Kntc1 |
T |
G |
5: 123,939,976 (GRCm39) |
L1590R |
probably damaging |
Het |
| Lipo3 |
G |
T |
19: 33,762,182 (GRCm39) |
A105E |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,335,423 (GRCm39) |
S4382C |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,369,830 (GRCm39) |
E79K |
probably damaging |
Het |
| Nmnat2 |
T |
C |
1: 152,969,792 (GRCm39) |
I195T |
probably damaging |
Het |
| Or11g25 |
A |
G |
14: 50,722,950 (GRCm39) |
T12A |
probably benign |
Het |
| Pcdhb13 |
A |
G |
18: 37,576,914 (GRCm39) |
T431A |
possibly damaging |
Het |
| Pcgf3 |
G |
A |
5: 108,634,045 (GRCm39) |
G101D |
probably benign |
Het |
| Phip |
T |
C |
9: 82,772,522 (GRCm39) |
D1070G |
possibly damaging |
Het |
| Ren1 |
A |
G |
1: 133,286,150 (GRCm39) |
H231R |
probably benign |
Het |
| Sox9 |
C |
A |
11: 112,675,500 (GRCm39) |
Q230K |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,498,497 (GRCm39) |
Y154N |
probably damaging |
Het |
| Thnsl1 |
A |
T |
2: 21,217,476 (GRCm39) |
N410I |
possibly damaging |
Het |
| Tnfrsf21 |
A |
T |
17: 43,350,694 (GRCm39) |
E286V |
probably benign |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,246 (GRCm39) |
R60G |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wrn |
T |
A |
8: 33,747,252 (GRCm39) |
I1110F |
possibly damaging |
Het |
| Zfp777 |
G |
T |
6: 48,002,276 (GRCm39) |
R649S |
probably damaging |
Het |
| Zmym6 |
T |
A |
4: 127,017,549 (GRCm39) |
I1110N |
probably 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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation