Incidental Mutation 'R8709:Cwf19l2'
ID |
669444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cwf19l2
|
Ensembl Gene |
ENSMUSG00000025898 |
Gene Name |
CWF19 like cell cycle control factor 2 |
Synonyms |
3230401L03Rik |
MMRRC Submission |
068563-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.934)
|
Stock # |
R8709 (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 A
at 3430723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 352
(Q352K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027027
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027027]
|
AlphaFold |
Q8BG79 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027027
AA Change: Q352K
PolyPhen 2
Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000027027 Gene: ENSMUSG00000025898 AA Change: Q352K
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
96% (55/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
A |
G |
4: 124,504,316 (GRCm39) |
S79P |
unknown |
Het |
Aadacl4fm2 |
C |
G |
4: 144,281,863 (GRCm39) |
A310P |
probably damaging |
Het |
Adamts20 |
T |
A |
15: 94,238,947 (GRCm39) |
D757V |
probably damaging |
Het |
Adamts9 |
C |
T |
6: 92,784,144 (GRCm39) |
G1570D |
probably damaging |
Het |
Adamtsl3 |
A |
G |
7: 82,077,642 (GRCm39) |
Y109C |
possibly damaging |
Het |
Agl |
G |
A |
3: 116,566,121 (GRCm39) |
R335C |
|
Het |
Ankfy1 |
C |
A |
11: 72,646,532 (GRCm39) |
T805K |
possibly damaging |
Het |
Cast |
A |
T |
13: 74,892,780 (GRCm39) |
V96E |
probably damaging |
Het |
Cdh17 |
G |
T |
4: 11,795,685 (GRCm39) |
E422* |
probably null |
Het |
Cox4i1 |
T |
A |
8: 121,396,110 (GRCm39) |
L21H |
possibly damaging |
Het |
Cwc22 |
T |
C |
2: 77,726,694 (GRCm39) |
E795G |
probably benign |
Het |
Cyp2d9 |
T |
C |
15: 82,339,276 (GRCm39) |
V226A |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,414,757 (GRCm39) |
I53V |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,674,476 (GRCm39) |
I434V |
probably benign |
Het |
Dock8 |
C |
T |
19: 25,055,448 (GRCm39) |
Q137* |
probably null |
Het |
Eif4b |
T |
G |
15: 102,002,116 (GRCm39) |
V515G |
unknown |
Het |
Far2 |
T |
A |
6: 148,067,133 (GRCm39) |
N339K |
probably benign |
Het |
Gpr22 |
T |
C |
12: 31,759,829 (GRCm39) |
T98A |
probably damaging |
Het |
Hamp2 |
A |
G |
7: 30,621,974 (GRCm39) |
C72R |
probably damaging |
Het |
Hmgn1 |
G |
A |
16: 95,928,540 (GRCm39) |
P16S |
possibly damaging |
Het |
Hspd1 |
A |
G |
1: 55,120,922 (GRCm39) |
S256P |
probably benign |
Het |
Iqcn |
T |
C |
8: 71,162,372 (GRCm39) |
C522R |
possibly damaging |
Het |
Iqgap2 |
T |
C |
13: 95,796,713 (GRCm39) |
H1147R |
probably damaging |
Het |
Itgb1 |
T |
A |
8: 129,439,887 (GRCm39) |
|
probably benign |
Het |
Klhl29 |
A |
T |
12: 5,140,681 (GRCm39) |
W654R |
probably damaging |
Het |
Krtap22-2 |
T |
A |
16: 88,807,514 (GRCm39) |
Y28F |
unknown |
Het |
Lcp2 |
T |
A |
11: 34,004,354 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
T |
G |
7: 141,370,663 (GRCm39) |
L3225R |
possibly damaging |
Het |
Myom3 |
A |
G |
4: 135,523,607 (GRCm39) |
E908G |
possibly damaging |
Het |
Nup54 |
A |
G |
5: 92,570,267 (GRCm39) |
|
probably benign |
Het |
Or1p1 |
T |
A |
11: 74,180,054 (GRCm39) |
I194N |
possibly damaging |
Het |
Or4a74 |
C |
T |
2: 89,440,366 (GRCm39) |
V27I |
probably benign |
Het |
Or51af1 |
T |
C |
7: 103,141,519 (GRCm39) |
T189A |
probably benign |
Het |
Or5ae1 |
T |
A |
7: 84,565,671 (GRCm39) |
I228N |
probably damaging |
Het |
Pak4 |
A |
C |
7: 28,261,969 (GRCm39) |
D453E |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,805,567 (GRCm39) |
T2120A |
|
Het |
Pkhd1l1 |
T |
A |
15: 44,381,570 (GRCm39) |
S1099T |
probably benign |
Het |
Pld2 |
C |
T |
11: 70,444,275 (GRCm39) |
R524W |
probably damaging |
Het |
Polr1a |
T |
A |
6: 71,951,832 (GRCm39) |
D1466E |
probably benign |
Het |
Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
Rp1l1 |
A |
C |
14: 64,269,295 (GRCm39) |
D1627A |
probably damaging |
Het |
Sephs1 |
T |
C |
2: 4,889,402 (GRCm39) |
V60A |
probably benign |
Het |
Sipa1 |
C |
T |
19: 5,710,980 (GRCm39) |
R10Q |
probably damaging |
Het |
Sp4 |
T |
C |
12: 118,263,189 (GRCm39) |
T286A |
possibly damaging |
Het |
Spag5 |
T |
A |
11: 78,192,738 (GRCm39) |
S23R |
probably benign |
Het |
Spag9 |
T |
A |
11: 93,958,916 (GRCm39) |
N313K |
probably benign |
Het |
Stag1 |
T |
A |
9: 100,772,975 (GRCm39) |
|
probably benign |
Het |
Stkld1 |
T |
A |
2: 26,835,817 (GRCm39) |
H217Q |
probably benign |
Het |
Stxbp2 |
T |
A |
8: 3,683,914 (GRCm39) |
F104I |
possibly damaging |
Het |
Tcf12 |
A |
G |
9: 71,765,787 (GRCm39) |
V575A |
possibly damaging |
Het |
Tcf12 |
A |
T |
9: 71,830,069 (GRCm39) |
S131T |
probably benign |
Het |
Tg |
T |
A |
15: 66,553,786 (GRCm39) |
S400R |
probably benign |
Het |
Tomm40 |
T |
C |
7: 19,444,703 (GRCm39) |
T200A |
possibly damaging |
Het |
Trio |
T |
C |
15: 27,919,323 (GRCm39) |
E71G |
unknown |
Het |
Zfp292 |
A |
T |
4: 34,805,982 (GRCm39) |
V2359E |
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 |
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 |
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'- ACGGTGGAGAAAGCCTACATATTC -3'
(R):5'- ATCGACTGCAGGATGCTGAAC -3'
Sequencing Primer
(F):5'- TTCAGATAGAGCACAGTGTAGTC -3'
(R):5'- GACTGCAGGATGCTGAACTTTCTTC -3'
|
Posted On |
2021-04-30 |