Incidental Mutation 'R4833:Cwf19l2'
| ID |
372994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwf19l2
|
| Ensembl Gene |
ENSMUSG00000025898 |
| Gene Name |
CWF19 like cell cycle control factor 2 |
| Synonyms |
3230401L03Rik |
| MMRRC Submission |
042449-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R4833 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
3403592-3479236 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3430783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 372
(S372P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027027]
|
| AlphaFold |
Q8BG79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027027
AA Change: S372P
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027027
Gene: ENSMUSG00000025898
AA Change: S372P
| 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
|
| Meta Mutation Damage Score |
0.0708 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,766,872 (GRCm39) |
T153K |
possibly damaging |
Het |
| Abca5 |
A |
C |
11: 110,170,142 (GRCm39) |
Y1318D |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,164,117 (GRCm39) |
I22T |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,708,963 (GRCm39) |
H1147L |
possibly damaging |
Het |
| Ankrd2 |
T |
C |
19: 42,032,296 (GRCm39) |
|
probably null |
Het |
| Bdkrb2 |
T |
C |
12: 105,557,917 (GRCm39) |
W53R |
probably benign |
Het |
| Blm |
T |
A |
7: 80,116,574 (GRCm39) |
I1111L |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,019,117 (GRCm39) |
I2007V |
probably damaging |
Het |
| Bmp3 |
T |
G |
5: 99,003,066 (GRCm39) |
L32R |
probably damaging |
Het |
| Cdh23 |
T |
G |
10: 60,220,817 (GRCm39) |
E1312A |
probably damaging |
Het |
| Ceacam5 |
C |
T |
7: 17,486,183 (GRCm39) |
T560M |
probably benign |
Het |
| Cimap1a |
T |
C |
7: 140,428,191 (GRCm39) |
M1T |
probably null |
Het |
| Cmtm8 |
C |
A |
9: 114,625,233 (GRCm39) |
R66I |
probably benign |
Het |
| Cnbd1 |
A |
G |
4: 18,862,120 (GRCm39) |
Y357H |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,507,323 (GRCm39) |
V252E |
unknown |
Het |
| Col6a4 |
A |
T |
9: 105,949,178 (GRCm39) |
M819K |
probably benign |
Het |
| Daam2 |
A |
T |
17: 49,797,173 (GRCm39) |
I204N |
possibly damaging |
Het |
| Dock6 |
T |
C |
9: 21,755,576 (GRCm39) |
D216G |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,253,750 (GRCm39) |
D548N |
possibly damaging |
Het |
| Erich2 |
T |
C |
2: 70,364,636 (GRCm39) |
Y311H |
possibly damaging |
Het |
| Gm3985 |
A |
G |
8: 33,380,505 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
A |
G |
4: 155,627,524 (GRCm39) |
T102A |
possibly damaging |
Het |
| Hcfc2 |
C |
T |
10: 82,544,980 (GRCm39) |
A204V |
probably null |
Het |
| Hnrnpu |
T |
C |
1: 178,161,459 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
G |
5: 35,009,569 (GRCm39) |
T1517A |
probably damaging |
Het |
| Klhl6 |
T |
A |
16: 19,775,889 (GRCm39) |
D223V |
probably damaging |
Het |
| Kpna6 |
A |
G |
4: 129,551,572 (GRCm39) |
S71P |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,574,188 (GRCm39) |
D590G |
probably benign |
Het |
| Lipt1 |
T |
G |
1: 37,914,610 (GRCm39) |
L222R |
probably damaging |
Het |
| Lrrc41 |
A |
G |
4: 115,950,374 (GRCm39) |
|
probably benign |
Het |
| Lrrc59 |
T |
C |
11: 94,525,498 (GRCm39) |
V98A |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,910,692 (GRCm39) |
|
probably null |
Het |
| Mdc1 |
C |
T |
17: 36,161,286 (GRCm39) |
S733F |
probably benign |
Het |
| Mknk1 |
C |
T |
4: 115,735,383 (GRCm39) |
|
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,043,505 (GRCm39) |
F141S |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,778,428 (GRCm39) |
D1G |
possibly damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,409 (GRCm39) |
L113F |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,628,540 (GRCm39) |
V183E |
probably damaging |
Het |
| Pola2 |
T |
C |
19: 6,003,892 (GRCm39) |
Y161C |
probably damaging |
Het |
| Psen1 |
G |
A |
12: 83,778,552 (GRCm39) |
V412I |
probably benign |
Het |
| Psmc4 |
C |
A |
7: 27,746,937 (GRCm39) |
G77V |
probably damaging |
Het |
| Psmd3 |
A |
G |
11: 98,578,586 (GRCm39) |
Y207C |
probably damaging |
Het |
| Pxk |
T |
A |
14: 8,130,653 (GRCm38) |
M84K |
probably damaging |
Het |
| Rab44 |
A |
C |
17: 29,355,311 (GRCm39) |
Q19P |
probably damaging |
Het |
| Rbks |
A |
G |
5: 31,781,859 (GRCm39) |
Y314H |
probably benign |
Het |
| Rftn2 |
T |
C |
1: 55,253,399 (GRCm39) |
D68G |
possibly damaging |
Het |
| Rims2 |
T |
A |
15: 39,399,310 (GRCm39) |
S838R |
probably damaging |
Het |
| Sdc4 |
A |
T |
2: 164,273,138 (GRCm39) |
D57E |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,169,982 (GRCm39) |
L554P |
probably damaging |
Het |
| Spink2 |
G |
T |
5: 77,353,239 (GRCm39) |
D83E |
possibly damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Taar8b |
A |
T |
10: 23,968,030 (GRCm39) |
S55T |
possibly damaging |
Het |
| Tbca |
A |
G |
13: 94,968,918 (GRCm39) |
E35G |
probably benign |
Het |
| Tmc5 |
C |
A |
7: 118,228,052 (GRCm39) |
H307Q |
probably benign |
Het |
| Tmem169 |
A |
G |
1: 72,337,311 (GRCm39) |
D82G |
probably benign |
Het |
| Tmem72 |
T |
C |
6: 116,675,319 (GRCm39) |
T58A |
probably benign |
Het |
| Ttc7 |
C |
T |
17: 87,641,749 (GRCm39) |
P449S |
probably damaging |
Het |
| Ttf2 |
T |
C |
3: 100,868,722 (GRCm39) |
E449G |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,129,857 (GRCm39) |
T659K |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,704,372 (GRCm39) |
Y98H |
probably damaging |
Het |
| Wfikkn2 |
A |
G |
11: 94,129,878 (GRCm39) |
Y88H |
probably benign |
Het |
| Zfp384 |
A |
T |
6: 125,007,811 (GRCm39) |
H247L |
probably damaging |
Het |
| Zfp526 |
C |
T |
7: 24,925,295 (GRCm39) |
A518V |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,296,992 (GRCm39) |
H47Q |
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 |
|
|
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 |
|
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'- AGTGGCACATCAGACTTAGTG -3'
(R):5'- AGCTCCAGGTTTCCAATGGC -3'
Sequencing Primer
(F):5'- TCTCTCAGAGGACAGACACCTGG -3'
(R):5'- CCAATGGCTTTTTATCTGAAGGC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation