Incidental Mutation 'R0015:Cwf19l2'
ID |
64901 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cwf19l2
|
Ensembl Gene |
ENSMUSG00000025898 |
Gene Name |
CWF19 like cell cycle control factor 2 |
Synonyms |
3230401L03Rik |
MMRRC Submission |
038310-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.932)
|
Stock # |
R0015 (G1)
|
Quality Score |
177 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
3403592-3479236 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3454666 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 660
(S660G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027027]
|
AlphaFold |
Q8BG79 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027027
AA Change: S660G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000027027 Gene: ENSMUSG00000025898 AA Change: S660G
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 |
0.1057 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
Validation Efficiency |
97% (71/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130050O07Rik |
A |
G |
1: 137,856,394 (GRCm39) |
Y23C |
unknown |
Het |
Adcy3 |
G |
A |
12: 4,245,260 (GRCm39) |
|
probably null |
Het |
Aldh6a1 |
G |
A |
12: 84,488,554 (GRCm39) |
L86F |
probably damaging |
Het |
Arl10 |
G |
T |
13: 54,723,770 (GRCm39) |
|
probably benign |
Het |
Armc3 |
A |
G |
2: 19,301,132 (GRCm39) |
|
probably null |
Het |
Astn2 |
T |
G |
4: 66,184,619 (GRCm39) |
|
probably null |
Het |
Cacna1d |
G |
A |
14: 29,836,928 (GRCm39) |
T804I |
probably benign |
Het |
Ccny |
A |
C |
18: 9,316,682 (GRCm39) |
|
probably benign |
Het |
Cdh5 |
C |
T |
8: 104,867,559 (GRCm39) |
T612I |
probably benign |
Het |
Cfap58 |
A |
G |
19: 48,017,539 (GRCm39) |
M800V |
probably benign |
Het |
Clrn1 |
A |
T |
3: 58,753,848 (GRCm39) |
I171K |
probably damaging |
Het |
Cnp |
T |
A |
11: 100,469,734 (GRCm39) |
|
probably null |
Het |
Col12a1 |
T |
C |
9: 79,558,667 (GRCm39) |
T1933A |
probably damaging |
Het |
Cplane1 |
G |
A |
15: 8,215,668 (GRCm39) |
R408H |
probably damaging |
Het |
Dync1i2 |
C |
A |
2: 71,044,828 (GRCm39) |
R13S |
probably damaging |
Het |
Eps8l1 |
A |
T |
7: 4,480,556 (GRCm39) |
|
probably benign |
Het |
Espn |
T |
C |
4: 152,223,609 (GRCm39) |
T188A |
possibly damaging |
Het |
F2 |
T |
C |
2: 91,460,952 (GRCm39) |
E260G |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,036,652 (GRCm39) |
S3435T |
probably damaging |
Het |
Fchsd1 |
A |
G |
18: 38,096,012 (GRCm39) |
C533R |
probably benign |
Het |
Fstl5 |
G |
A |
3: 76,229,498 (GRCm39) |
V100M |
probably damaging |
Het |
Gls2 |
T |
G |
10: 128,045,219 (GRCm39) |
L572R |
probably damaging |
Het |
Gm20939 |
A |
T |
17: 95,184,196 (GRCm39) |
E281D |
probably benign |
Het |
Gpr35 |
T |
G |
1: 92,910,954 (GRCm39) |
L222W |
probably damaging |
Het |
Hsf5 |
C |
A |
11: 87,548,161 (GRCm39) |
H615N |
probably benign |
Het |
Id2 |
C |
T |
12: 25,145,802 (GRCm39) |
D70N |
probably damaging |
Het |
Ints2 |
T |
C |
11: 86,140,113 (GRCm39) |
T240A |
probably damaging |
Het |
Kcnn3 |
A |
C |
3: 89,570,080 (GRCm39) |
D631A |
probably damaging |
Het |
Klhdc8a |
A |
G |
1: 132,230,743 (GRCm39) |
T203A |
probably damaging |
Het |
Lama4 |
C |
T |
10: 38,951,432 (GRCm39) |
T1059M |
possibly damaging |
Het |
Lgals8 |
A |
G |
13: 12,462,179 (GRCm39) |
L226P |
probably damaging |
Het |
Lifr |
T |
A |
15: 7,217,667 (GRCm39) |
|
probably null |
Het |
Lonp1 |
T |
A |
17: 56,925,406 (GRCm39) |
Q462L |
probably benign |
Het |
Lypd1 |
A |
G |
1: 125,838,175 (GRCm39) |
V48A |
possibly damaging |
Het |
Mapkapk2 |
A |
G |
1: 131,025,063 (GRCm39) |
I67T |
possibly damaging |
Het |
Mbd3l1 |
A |
T |
9: 18,396,154 (GRCm39) |
D93V |
probably benign |
Het |
Mdh1b |
T |
C |
1: 63,760,959 (GRCm39) |
|
probably benign |
Het |
Myh7b |
C |
T |
2: 155,464,206 (GRCm39) |
P569L |
probably damaging |
Het |
Ncapd3 |
C |
A |
9: 26,963,105 (GRCm39) |
A470E |
probably damaging |
Het |
Ndrg2 |
A |
G |
14: 52,147,902 (GRCm39) |
|
probably benign |
Het |
Nprl2 |
A |
T |
9: 107,421,618 (GRCm39) |
I209F |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,699,057 (GRCm39) |
|
probably benign |
Het |
Olfm2 |
T |
C |
9: 20,580,037 (GRCm39) |
E268G |
probably damaging |
Het |
Or8b37 |
T |
A |
9: 37,958,963 (GRCm39) |
Y148* |
probably null |
Het |
Pcf11 |
T |
A |
7: 92,307,525 (GRCm39) |
H881L |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,196,029 (GRCm39) |
D640G |
probably damaging |
Het |
Pde9a |
G |
A |
17: 31,605,330 (GRCm39) |
|
probably null |
Het |
Pianp |
G |
T |
6: 124,978,503 (GRCm39) |
G236V |
probably damaging |
Het |
Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,717,660 (GRCm39) |
S1085P |
possibly damaging |
Het |
Pter |
G |
A |
2: 13,005,811 (GRCm39) |
G328D |
probably damaging |
Het |
Rad51 |
T |
A |
2: 118,946,808 (GRCm39) |
M5K |
probably benign |
Het |
Rbm43 |
T |
A |
2: 51,815,679 (GRCm39) |
I181F |
probably benign |
Het |
Rgs12 |
T |
C |
5: 35,180,120 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
A |
C |
11: 119,332,432 (GRCm39) |
D2547A |
possibly damaging |
Het |
Slc20a2 |
C |
A |
8: 23,025,361 (GRCm39) |
A21E |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,679,481 (GRCm39) |
S2503P |
probably benign |
Het |
Sv2b |
A |
T |
7: 74,775,389 (GRCm39) |
F479L |
probably damaging |
Het |
Sybu |
T |
C |
15: 44,536,896 (GRCm39) |
R349G |
probably damaging |
Het |
Tead3 |
T |
C |
17: 28,560,325 (GRCm39) |
Y2C |
probably damaging |
Het |
Tnrc6c |
T |
A |
11: 117,612,284 (GRCm39) |
N307K |
probably damaging |
Het |
Ubxn11 |
C |
G |
4: 133,843,336 (GRCm39) |
|
probably null |
Het |
Ust |
T |
C |
10: 8,205,829 (GRCm39) |
|
probably benign |
Het |
Vmn2r116 |
T |
A |
17: 23,620,823 (GRCm39) |
N852K |
probably benign |
Het |
Zgrf1 |
T |
C |
3: 127,349,046 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGACTCTCGGATGCCACTATCAAC -3'
(R):5'- GAAGCTAAAAGACTTGGCAAATGACCC -3'
Sequencing Primer
(F):5'- GATGCCACTATCAACAAAGTATTAAC -3'
(R):5'- CGGTCATAAAGTTTGACAACAGTAG -3'
|
Posted On |
2013-08-06 |