Incidental Mutation 'R7506:Cwf19l2'
| ID |
581793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cwf19l2
|
| Ensembl Gene |
ENSMUSG00000025898 |
| Gene Name |
CWF19 like cell cycle control factor 2 |
| Synonyms |
3230401L03Rik |
| MMRRC Submission |
045579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
R7506 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
3403592-3479236 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3456775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 703
(H703Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027027]
|
| AlphaFold |
Q8BG79 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027027
AA Change: H703Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027027
Gene: ENSMUSG00000025898
AA Change: H703Y
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
C |
T |
9: 15,209,202 (GRCm39) |
V31I |
probably benign |
Het |
| 4933430I17Rik |
T |
C |
4: 62,450,498 (GRCm39) |
V24A |
possibly damaging |
Het |
| Adamtsl3 |
A |
T |
7: 82,164,186 (GRCm39) |
R334W |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,088,562 (GRCm39) |
C116Y |
probably damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,561,740 (GRCm39) |
I74N |
probably damaging |
Het |
| Bicra |
C |
T |
7: 15,722,138 (GRCm39) |
V460M |
possibly damaging |
Het |
| Ccdc18 |
G |
A |
5: 108,311,605 (GRCm39) |
C437Y |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,034,396 (GRCm39) |
S755P |
probably damaging |
Het |
| Crtc2 |
G |
T |
3: 90,166,519 (GRCm39) |
A165S |
probably damaging |
Het |
| Cyc1 |
C |
A |
15: 76,227,885 (GRCm39) |
T41K |
probably benign |
Het |
| Defb28 |
A |
T |
2: 152,360,221 (GRCm39) |
H12L |
possibly damaging |
Het |
| Dsg3 |
T |
A |
18: 20,666,521 (GRCm39) |
C577S |
probably benign |
Het |
| Ggt6 |
G |
T |
11: 72,328,724 (GRCm39) |
C408F |
possibly damaging |
Het |
| Gm3278 |
T |
A |
14: 16,080,479 (GRCm39) |
Y97N |
probably damaging |
Het |
| Gpr155 |
A |
G |
2: 73,198,683 (GRCm39) |
L412P |
probably damaging |
Het |
| Gucd1 |
T |
C |
10: 75,347,019 (GRCm39) |
H77R |
probably benign |
Het |
| H2bc8 |
G |
A |
13: 23,755,658 (GRCm39) |
A18T |
unknown |
Het |
| Hat1 |
T |
A |
2: 71,250,691 (GRCm39) |
I158N |
probably damaging |
Het |
| Hhla1 |
C |
T |
15: 65,808,231 (GRCm39) |
W271* |
probably null |
Het |
| Igsf10 |
T |
A |
3: 59,226,775 (GRCm39) |
L2299F |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,644,891 (GRCm39) |
S914P |
probably damaging |
Het |
| Iqsec1 |
G |
T |
6: 90,639,788 (GRCm39) |
H983Q |
possibly damaging |
Het |
| Irx2 |
G |
T |
13: 72,777,328 (GRCm39) |
G50C |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,357,064 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,157,045 (GRCm39) |
E1405G |
unknown |
Het |
| Mdm2 |
T |
C |
10: 117,526,596 (GRCm39) |
D330G |
possibly damaging |
Het |
| Mgat5 |
A |
C |
1: 127,294,192 (GRCm39) |
D178A |
probably benign |
Het |
| Mier2 |
C |
A |
10: 79,386,176 (GRCm39) |
R25L |
probably benign |
Het |
| Mlip |
T |
C |
9: 77,072,085 (GRCm39) |
K257E |
probably damaging |
Het |
| Mtfr2 |
T |
C |
10: 20,229,131 (GRCm39) |
S80P |
probably benign |
Het |
| Ndst2 |
A |
G |
14: 20,780,153 (GRCm39) |
V29A |
probably benign |
Het |
| Negr1 |
T |
G |
3: 156,774,870 (GRCm39) |
Y195* |
probably null |
Het |
| Nptn |
T |
C |
9: 58,526,156 (GRCm39) |
L101P |
probably damaging |
Het |
| Nrip1 |
G |
A |
16: 76,091,347 (GRCm39) |
T70I |
probably damaging |
Het |
| Nrtn |
C |
T |
17: 57,058,633 (GRCm39) |
V123M |
probably damaging |
Het |
| Onecut1 |
T |
A |
9: 74,770,522 (GRCm39) |
F315Y |
possibly damaging |
Het |
| Or1p1 |
A |
T |
11: 74,179,949 (GRCm39) |
H159L |
possibly damaging |
Het |
| P4htm |
A |
G |
9: 108,460,878 (GRCm39) |
L198S |
probably damaging |
Het |
| Pappa |
A |
C |
4: 65,149,419 (GRCm39) |
I920L |
probably benign |
Het |
| Pcdhgb5 |
A |
C |
18: 37,865,525 (GRCm39) |
D440A |
probably damaging |
Het |
| Ppard |
A |
T |
17: 28,517,735 (GRCm39) |
N268Y |
possibly damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,526,997 (GRCm39) |
S563T |
probably benign |
Het |
| Rtn3 |
T |
A |
19: 7,407,118 (GRCm39) |
E949D |
probably benign |
Het |
| Sf3a1 |
T |
C |
11: 4,127,561 (GRCm39) |
M629T |
probably benign |
Het |
| Slc39a8 |
T |
C |
3: 135,590,067 (GRCm39) |
I319T |
probably benign |
Het |
| Sorcs1 |
C |
T |
19: 50,171,112 (GRCm39) |
W925* |
probably null |
Het |
| Spag9 |
G |
A |
11: 93,999,290 (GRCm39) |
D1069N |
probably damaging |
Het |
| Taar7a |
A |
G |
10: 23,868,892 (GRCm39) |
V163A |
possibly damaging |
Het |
| Tmem150a |
G |
A |
6: 72,333,753 (GRCm39) |
|
probably null |
Het |
| Tnxb |
G |
A |
17: 34,934,665 (GRCm39) |
V2425I |
possibly damaging |
Het |
| Tppp2 |
A |
G |
14: 52,158,058 (GRCm39) |
K168E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,719,812 (GRCm39) |
D7099V |
unknown |
Het |
| Vmn1r41 |
A |
T |
6: 89,724,159 (GRCm39) |
R50* |
probably null |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,861 (GRCm39) |
K80E |
|
Het |
| Vmn2r18 |
A |
G |
5: 151,508,485 (GRCm39) |
F213S |
possibly damaging |
Het |
| Vmn2r26 |
G |
A |
6: 124,016,700 (GRCm39) |
S388N |
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,576,391 (GRCm39) |
F474Y |
probably damaging |
Het |
| Zc3hav1 |
G |
A |
6: 38,309,875 (GRCm39) |
R316* |
probably null |
Het |
| Zfp654 |
A |
T |
16: 64,612,211 (GRCm39) |
I225N |
probably damaging |
Het |
| Zfp97 |
A |
G |
17: 17,365,542 (GRCm39) |
E347G |
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 |
|
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 |
|
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 |
|
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'- GACGTCTTAGTCTGTAATATCTCTCTG -3'
(R):5'- AAAGCCAGAGCGCACTATG -3'
Sequencing Primer
(F):5'- CCATGATCTCACTACTGTGG -3'
(R):5'- AAACGGTAACTGCTGCCTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation