Incidental Mutation 'R0924:Cwf19l2'
| ID |
83089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwf19l2
|
| Ensembl Gene |
ENSMUSG00000025898 |
| Gene Name |
CWF19 like cell cycle control factor 2 |
| Synonyms |
3230401L03Rik |
| MMRRC Submission |
039071-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R0924 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
3403592-3479236 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 3441047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027027]
|
| AlphaFold |
Q8BG79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027027
|
| SMART Domains |
Protein: ENSMUSP00000027027
Gene: ENSMUSG00000025898
| 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: ENSMUST00000212101
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
97% (69/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
T |
8: 114,432,028 (GRCm39) |
|
probably null |
Het |
| Ahcyl2 |
A |
C |
6: 29,870,627 (GRCm39) |
|
probably null |
Het |
| Ajap1 |
T |
A |
4: 153,470,929 (GRCm39) |
I293F |
probably damaging |
Het |
| Akap10 |
T |
C |
11: 61,795,689 (GRCm39) |
|
probably benign |
Het |
| Aldh3b2 |
T |
C |
19: 4,029,350 (GRCm39) |
V241A |
probably benign |
Het |
| Anxa6 |
A |
T |
11: 54,885,214 (GRCm39) |
|
probably null |
Het |
| Atpaf1 |
T |
A |
4: 115,652,635 (GRCm39) |
V12D |
probably damaging |
Het |
| Aurkb |
C |
A |
11: 68,936,822 (GRCm39) |
Y12* |
probably null |
Het |
| Bicdl1 |
A |
G |
5: 115,799,587 (GRCm39) |
|
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,628,156 (GRCm39) |
|
probably benign |
Het |
| Bpi |
A |
G |
2: 158,103,346 (GRCm39) |
I114V |
possibly damaging |
Het |
| Cacna1c |
A |
T |
6: 118,652,857 (GRCm39) |
I772N |
probably damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,570,860 (GRCm39) |
N1045D |
possibly damaging |
Het |
| Ccrl2 |
A |
G |
9: 110,885,036 (GRCm39) |
V154A |
probably benign |
Het |
| Celsr3 |
C |
A |
9: 108,723,224 (GRCm39) |
Q2831K |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,280,554 (GRCm39) |
|
probably benign |
Het |
| Cul3 |
A |
T |
1: 80,267,835 (GRCm39) |
M102K |
probably damaging |
Het |
| Dlg5 |
G |
A |
14: 24,185,645 (GRCm39) |
P1920L |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,312,134 (GRCm39) |
H4393R |
probably damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,938,775 (GRCm39) |
V408D |
possibly damaging |
Het |
| Eml3 |
T |
C |
19: 8,910,675 (GRCm39) |
|
probably null |
Het |
| Enpp2 |
T |
C |
15: 54,770,355 (GRCm39) |
|
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,839,555 (GRCm39) |
Y456F |
probably damaging |
Het |
| Gm14178 |
T |
A |
11: 99,638,326 (GRCm39) |
T18S |
|
Het |
| H2bc12 |
G |
A |
13: 22,220,210 (GRCm39) |
D52N |
probably damaging |
Het |
| H2-M11 |
A |
G |
17: 36,860,106 (GRCm39) |
M324V |
probably benign |
Het |
| H2-T13 |
A |
T |
17: 36,394,824 (GRCm39) |
V33E |
probably damaging |
Het |
| Hdac10 |
T |
C |
15: 89,010,065 (GRCm39) |
T298A |
probably benign |
Het |
| Hepacam |
A |
C |
9: 37,295,224 (GRCm39) |
|
probably benign |
Het |
| Hmx3 |
A |
T |
7: 131,144,813 (GRCm39) |
H41L |
probably benign |
Het |
| Ifi27l2a |
A |
G |
12: 103,408,639 (GRCm39) |
V68A |
probably damaging |
Het |
| Itga11 |
A |
G |
9: 62,683,956 (GRCm39) |
E1079G |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,599,235 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,862 (GRCm39) |
N686D |
probably damaging |
Het |
| Lrrtm2 |
G |
A |
18: 35,346,808 (GRCm39) |
R165C |
probably damaging |
Het |
| Macf1 |
G |
T |
4: 123,279,271 (GRCm39) |
A3910E |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,361,252 (GRCm39) |
Y1521F |
possibly damaging |
Het |
| Myo7a |
A |
T |
7: 97,747,463 (GRCm39) |
I129N |
probably damaging |
Het |
| Ncam1 |
A |
T |
9: 49,473,476 (GRCm39) |
|
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,384,593 (GRCm39) |
C114S |
probably benign |
Het |
| Nf1 |
T |
G |
11: 79,344,692 (GRCm39) |
W1260G |
probably damaging |
Het |
| Or3a1d |
T |
C |
11: 74,237,624 (GRCm39) |
Y262C |
probably damaging |
Het |
| Or6b2b |
A |
G |
1: 92,419,127 (GRCm39) |
S117P |
possibly damaging |
Het |
| Or6c76b |
A |
T |
10: 129,692,515 (GRCm39) |
I43F |
probably damaging |
Het |
| Oxtr |
A |
T |
6: 112,466,598 (GRCm39) |
|
probably null |
Het |
| Pabpc4 |
C |
T |
4: 123,188,458 (GRCm39) |
R356C |
possibly damaging |
Het |
| Pcbp2 |
T |
A |
15: 102,398,197 (GRCm39) |
D182E |
probably damaging |
Het |
| Pgm2 |
A |
T |
5: 64,269,490 (GRCm39) |
I526F |
possibly damaging |
Het |
| Rab43 |
A |
T |
6: 87,769,752 (GRCm39) |
Y151* |
probably null |
Het |
| Rbm19 |
A |
G |
5: 120,264,269 (GRCm39) |
E343G |
probably benign |
Het |
| Rel |
A |
T |
11: 23,692,439 (GRCm39) |
D531E |
probably benign |
Het |
| Rfx4 |
T |
A |
10: 84,704,291 (GRCm39) |
V262E |
probably damaging |
Het |
| Rnf31 |
T |
C |
14: 55,830,459 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
T |
A |
9: 37,340,778 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,672,178 (GRCm39) |
L1431P |
probably damaging |
Het |
| Sema3d |
A |
C |
5: 12,513,183 (GRCm39) |
D51A |
possibly damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,559 (GRCm39) |
L996P |
probably damaging |
Het |
| Sh2d4a |
T |
A |
8: 68,787,775 (GRCm39) |
F294I |
probably damaging |
Het |
| Sorl1 |
T |
A |
9: 41,919,470 (GRCm39) |
|
probably benign |
Het |
| Sox1ot |
G |
T |
8: 12,480,455 (GRCm39) |
|
noncoding transcript |
Het |
| Spsb3 |
A |
T |
17: 25,110,358 (GRCm39) |
N395I |
probably damaging |
Het |
| Sptan1 |
A |
G |
2: 29,906,040 (GRCm39) |
N1662S |
probably damaging |
Het |
| Srd5a2 |
G |
T |
17: 74,331,516 (GRCm39) |
N160K |
probably damaging |
Het |
| Sting1 |
A |
G |
18: 35,868,154 (GRCm39) |
|
probably null |
Het |
| Tmem132d |
G |
A |
5: 128,061,503 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,549,800 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,524,443 (GRCm39) |
T146A |
probably benign |
Het |
| Wdr19 |
A |
G |
5: 65,413,782 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
C |
T |
7: 127,482,982 (GRCm39) |
Q1500* |
probably null |
Het |
| Zfp683 |
T |
C |
4: 133,783,138 (GRCm39) |
Y201H |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTGAAGTGTAGTTCACCCTAGAATGC -3'
(R):5'- AGATTCCTAGCTTTGCTACTCTGCCA -3'
Sequencing Primer
(F):5'- AGCTAATGCATGAGGTTGCT -3'
(R):5'- GGGAGACAGCACATATATTTCTCTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation