Incidental Mutation 'R5151:Cdk12'
| ID |
395385 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk12
|
| Ensembl Gene |
ENSMUSG00000003119 |
| Gene Name |
cyclin dependent kinase 12 |
| Synonyms |
Crkrs, Crk7, D11Ertd752e, 1810022J16Rik |
| MMRRC Submission |
042733-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5151 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98093885-98169330 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 98140749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003203]
[ENSMUST00000107538]
[ENSMUST00000107539]
|
| AlphaFold |
Q14AX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003203
|
| SMART Domains |
Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
684 |
N/A |
INTRINSIC |
|
S_TKc
|
723 |
1016 |
1.49e-95 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107538
AA Change: P1330L
|
| SMART Domains |
Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: P1330L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
684 |
N/A |
INTRINSIC |
|
S_TKc
|
723 |
1016 |
1.49e-95 |
SMART |
|
low complexity region
|
1252 |
1276 |
N/A |
INTRINSIC |
|
low complexity region
|
1467 |
1483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000107539
AA Change: P1321L
|
| SMART Domains |
Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: P1321L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
227 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
684 |
N/A |
INTRINSIC |
|
S_TKc
|
723 |
1016 |
1.49e-95 |
SMART |
|
low complexity region
|
1253 |
1267 |
N/A |
INTRINSIC |
|
low complexity region
|
1458 |
1474 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147441
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality between implantation and E6.5 with decreased proliferation and increased apoptosis in the inner cell mass. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
T |
A |
15: 101,108,651 (GRCm39) |
C476S |
probably damaging |
Het |
| Agpat2 |
A |
G |
2: 26,487,218 (GRCm39) |
M120T |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,994,933 (GRCm39) |
T5406A |
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,948,775 (GRCm39) |
F112L |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,642,667 (GRCm39) |
V1371D |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,514,059 (GRCm39) |
N286S |
probably damaging |
Het |
| Ate1 |
T |
C |
7: 130,109,394 (GRCm39) |
K202E |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,845,280 (GRCm39) |
T630A |
probably damaging |
Het |
| Ccdc187 |
G |
T |
2: 26,183,451 (GRCm39) |
T183N |
probably damaging |
Het |
| Ciita |
A |
G |
16: 10,341,594 (GRCm39) |
N978S |
probably damaging |
Het |
| Cit |
A |
T |
5: 116,117,894 (GRCm39) |
Q1268L |
probably damaging |
Het |
| Csf2rb |
C |
T |
15: 78,224,781 (GRCm39) |
R180W |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,918,293 (GRCm39) |
I4079V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,659,929 (GRCm39) |
V693A |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,931,269 (GRCm39) |
V1428E |
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,362,647 (GRCm39) |
Q3777K |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,815,582 (GRCm39) |
Y1666H |
probably damaging |
Het |
| Dpysl3 |
C |
T |
18: 43,571,145 (GRCm39) |
G43D |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,758,670 (GRCm39) |
|
probably null |
Het |
| Erich4 |
T |
C |
7: 25,315,292 (GRCm39) |
|
probably benign |
Het |
| Fah |
T |
A |
7: 84,250,259 (GRCm39) |
D99V |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,404,851 (GRCm39) |
V534A |
possibly damaging |
Het |
| Fgf21 |
G |
C |
7: 45,263,456 (GRCm39) |
S207R |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,792,969 (GRCm39) |
P967S |
probably damaging |
Het |
| H2-T23 |
T |
C |
17: 36,343,230 (GRCm39) |
D49G |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,279,455 (GRCm39) |
N1819S |
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,846,881 (GRCm39) |
I258V |
probably damaging |
Het |
| Ighv1-22 |
T |
A |
12: 114,709,928 (GRCm39) |
T106S |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,452,270 (GRCm39) |
T327A |
probably damaging |
Het |
| Iqgap3 |
G |
T |
3: 88,025,067 (GRCm39) |
M689I |
possibly damaging |
Het |
| Itga7 |
G |
A |
10: 128,780,380 (GRCm39) |
G559S |
possibly damaging |
Het |
| Kcnq1 |
G |
T |
7: 142,979,749 (GRCm39) |
V632L |
probably benign |
Het |
| Lsamp |
T |
C |
16: 41,954,792 (GRCm39) |
V230A |
probably damaging |
Het |
| Mfn2 |
A |
T |
4: 147,970,785 (GRCm39) |
S305T |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,516,883 (GRCm39) |
T818A |
probably benign |
Het |
| Nacc2 |
G |
A |
2: 25,980,365 (GRCm39) |
R24C |
probably damaging |
Het |
| Ntrk3 |
A |
C |
7: 77,897,048 (GRCm39) |
I663R |
probably damaging |
Het |
| Nyap1 |
A |
G |
5: 137,734,376 (GRCm39) |
V219A |
probably damaging |
Het |
| Obox3 |
A |
T |
7: 15,360,173 (GRCm39) |
N165K |
probably damaging |
Het |
| Or13a1 |
T |
A |
6: 116,470,765 (GRCm39) |
L65* |
probably null |
Het |
| Or13j1 |
A |
T |
4: 43,706,518 (GRCm39) |
F17I |
probably damaging |
Het |
| Or2y12 |
A |
G |
11: 49,426,242 (GRCm39) |
T77A |
possibly damaging |
Het |
| Or52e2 |
C |
A |
7: 102,804,593 (GRCm39) |
M120I |
probably damaging |
Het |
| Or55b4 |
G |
A |
7: 102,134,192 (GRCm39) |
T45I |
probably benign |
Het |
| Pask |
A |
T |
1: 93,262,350 (GRCm39) |
L170H |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,163,480 (GRCm39) |
I2146N |
possibly damaging |
Het |
| Pitpnm2 |
A |
T |
5: 124,274,449 (GRCm39) |
M220K |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,368,705 (GRCm39) |
D841G |
probably benign |
Het |
| Pla2g3 |
C |
T |
11: 3,440,827 (GRCm39) |
T264M |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,104,165 (GRCm39) |
Y278F |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,533,899 (GRCm39) |
L1579P |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,516 (GRCm39) |
N479K |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,044,155 (GRCm39) |
H966R |
probably damaging |
Het |
| Rbm27 |
A |
G |
18: 42,471,509 (GRCm39) |
D996G |
probably damaging |
Het |
| Rif1 |
A |
C |
2: 52,010,321 (GRCm39) |
K2337T |
probably damaging |
Het |
| Rpl13a |
G |
T |
7: 44,775,385 (GRCm39) |
N442K |
probably benign |
Het |
| Serpini2 |
T |
A |
3: 75,153,820 (GRCm39) |
T380S |
possibly damaging |
Het |
| Setbp1 |
A |
T |
18: 78,901,214 (GRCm39) |
W818R |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,542,869 (GRCm39) |
C185S |
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,572,659 (GRCm39) |
V674A |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,950,516 (GRCm39) |
M312K |
possibly damaging |
Het |
| Slc46a3 |
A |
G |
5: 147,823,566 (GRCm39) |
L92S |
probably damaging |
Het |
| Son |
T |
C |
16: 91,452,587 (GRCm39) |
S445P |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,090,484 (GRCm39) |
F351L |
probably benign |
Het |
| Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
| Tmem248 |
T |
A |
5: 130,269,238 (GRCm39) |
L277H |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,838,757 (GRCm39) |
H698L |
probably benign |
Het |
| Ushbp1 |
A |
G |
8: 71,847,799 (GRCm39) |
V24A |
possibly damaging |
Het |
| Usp24 |
G |
T |
4: 106,256,309 (GRCm39) |
|
probably null |
Het |
| Vmn2r50 |
T |
G |
7: 9,786,970 (GRCm39) |
I46L |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,365,208 (GRCm39) |
T423A |
probably benign |
Het |
| Zfp663 |
T |
A |
2: 165,195,113 (GRCm39) |
T369S |
probably benign |
Het |
| Zmynd11 |
T |
C |
13: 9,740,953 (GRCm39) |
T382A |
probably damaging |
Het |
|
| Other mutations in Cdk12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Cdk12
|
APN |
11 |
98,136,214 (GRCm39) |
missense |
unknown |
|
|
IGL00718:Cdk12
|
APN |
11 |
98,140,502 (GRCm39) |
intron |
probably benign |
|
|
IGL00850:Cdk12
|
APN |
11 |
98,113,491 (GRCm39) |
missense |
unknown |
|
|
IGL01299:Cdk12
|
APN |
11 |
98,101,272 (GRCm39) |
missense |
unknown |
|
|
IGL01443:Cdk12
|
APN |
11 |
98,136,295 (GRCm39) |
missense |
unknown |
|
|
IGL01597:Cdk12
|
APN |
11 |
98,141,090 (GRCm39) |
unclassified |
probably benign |
|
|
capsized
|
UTSW |
11 |
98,132,611 (GRCm39) |
missense |
unknown |
|
|
Listing
|
UTSW |
11 |
98,115,293 (GRCm39) |
nonsense |
probably null |
|
|
Torpedoed
|
UTSW |
11 |
98,111,928 (GRCm39) |
missense |
unknown |
|
|
R0124:Cdk12
|
UTSW |
11 |
98,102,073 (GRCm39) |
splice site |
probably benign |
|
|
R0157:Cdk12
|
UTSW |
11 |
98,140,602 (GRCm39) |
unclassified |
probably benign |
|
|
R0190:Cdk12
|
UTSW |
11 |
98,132,657 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0230:Cdk12
|
UTSW |
11 |
98,094,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0467:Cdk12
|
UTSW |
11 |
98,094,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0577:Cdk12
|
UTSW |
11 |
98,094,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0671:Cdk12
|
UTSW |
11 |
98,120,935 (GRCm39) |
splice site |
probably benign |
|
|
R0834:Cdk12
|
UTSW |
11 |
98,095,211 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1129:Cdk12
|
UTSW |
11 |
98,136,201 (GRCm39) |
missense |
unknown |
|
|
R1337:Cdk12
|
UTSW |
11 |
98,136,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1344:Cdk12
|
UTSW |
11 |
98,132,611 (GRCm39) |
missense |
unknown |
|
|
R1418:Cdk12
|
UTSW |
11 |
98,132,611 (GRCm39) |
missense |
unknown |
|
|
R1729:Cdk12
|
UTSW |
11 |
98,140,796 (GRCm39) |
unclassified |
probably benign |
|
|
R1756:Cdk12
|
UTSW |
11 |
98,132,587 (GRCm39) |
nonsense |
probably null |
|
|
R1784:Cdk12
|
UTSW |
11 |
98,140,796 (GRCm39) |
unclassified |
probably benign |
|
|
R1807:Cdk12
|
UTSW |
11 |
98,101,203 (GRCm39) |
missense |
unknown |
|
|
R1956:Cdk12
|
UTSW |
11 |
98,110,042 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1966:Cdk12
|
UTSW |
11 |
98,094,916 (GRCm39) |
nonsense |
probably null |
|
|
R2202:Cdk12
|
UTSW |
11 |
98,101,464 (GRCm39) |
missense |
unknown |
|
|
R2422:Cdk12
|
UTSW |
11 |
98,109,900 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2570:Cdk12
|
UTSW |
11 |
98,094,618 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4574:Cdk12
|
UTSW |
11 |
98,111,814 (GRCm39) |
intron |
probably benign |
|
|
R4614:Cdk12
|
UTSW |
11 |
98,140,603 (GRCm39) |
unclassified |
probably benign |
|
|
R4882:Cdk12
|
UTSW |
11 |
98,101,272 (GRCm39) |
missense |
unknown |
|
|
R4921:Cdk12
|
UTSW |
11 |
98,113,513 (GRCm39) |
missense |
unknown |
|
|
R5252:Cdk12
|
UTSW |
11 |
98,134,335 (GRCm39) |
missense |
unknown |
|
|
R5348:Cdk12
|
UTSW |
11 |
98,095,118 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5620:Cdk12
|
UTSW |
11 |
98,101,809 (GRCm39) |
missense |
unknown |
|
|
R5779:Cdk12
|
UTSW |
11 |
98,109,900 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6085:Cdk12
|
UTSW |
11 |
98,134,255 (GRCm39) |
missense |
unknown |
|
|
R6293:Cdk12
|
UTSW |
11 |
98,115,379 (GRCm39) |
missense |
unknown |
|
|
R6371:Cdk12
|
UTSW |
11 |
98,136,114 (GRCm39) |
missense |
unknown |
|
|
R6438:Cdk12
|
UTSW |
11 |
98,115,293 (GRCm39) |
nonsense |
probably null |
|
|
R6765:Cdk12
|
UTSW |
11 |
98,115,355 (GRCm39) |
missense |
unknown |
|
|
R6958:Cdk12
|
UTSW |
11 |
98,132,525 (GRCm39) |
missense |
unknown |
|
|
R7205:Cdk12
|
UTSW |
11 |
98,115,451 (GRCm39) |
missense |
unknown |
|
|
R7307:Cdk12
|
UTSW |
11 |
98,140,626 (GRCm39) |
nonsense |
probably null |
|
|
R7361:Cdk12
|
UTSW |
11 |
98,101,294 (GRCm39) |
nonsense |
probably null |
|
|
R7365:Cdk12
|
UTSW |
11 |
98,111,910 (GRCm39) |
missense |
unknown |
|
|
R7447:Cdk12
|
UTSW |
11 |
98,136,106 (GRCm39) |
missense |
unknown |
|
|
R7514:Cdk12
|
UTSW |
11 |
98,113,484 (GRCm39) |
missense |
unknown |
|
|
R7831:Cdk12
|
UTSW |
11 |
98,140,653 (GRCm39) |
missense |
unknown |
|
|
R7877:Cdk12
|
UTSW |
11 |
98,131,661 (GRCm39) |
missense |
unknown |
|
|
R7975:Cdk12
|
UTSW |
11 |
98,111,928 (GRCm39) |
missense |
unknown |
|
|
R8507:Cdk12
|
UTSW |
11 |
98,141,111 (GRCm39) |
missense |
unknown |
|
|
R8558:Cdk12
|
UTSW |
11 |
98,101,915 (GRCm39) |
missense |
unknown |
|
|
R8693:Cdk12
|
UTSW |
11 |
98,141,133 (GRCm39) |
missense |
unknown |
|
|
R9250:Cdk12
|
UTSW |
11 |
98,101,398 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9517:Cdk12
|
UTSW |
11 |
98,109,910 (GRCm39) |
missense |
unknown |
|
|
R9562:Cdk12
|
UTSW |
11 |
98,140,628 (GRCm39) |
missense |
unknown |
|
|
R9565:Cdk12
|
UTSW |
11 |
98,140,628 (GRCm39) |
missense |
unknown |
|
|
R9792:Cdk12
|
UTSW |
11 |
98,102,051 (GRCm39) |
missense |
unknown |
|
|
R9793:Cdk12
|
UTSW |
11 |
98,102,051 (GRCm39) |
missense |
unknown |
|
|
R9795:Cdk12
|
UTSW |
11 |
98,102,051 (GRCm39) |
missense |
unknown |
|
|
Z1176:Cdk12
|
UTSW |
11 |
98,094,767 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTTCCACCAGAGAAGAGGCC -3'
(R):5'- TAAAACGGAGGTCCTGGTCC -3'
Sequencing Primer
(F):5'- CAGAGAAGAGGCCCCCTGAG -3'
(R):5'- AACTGCACTGACCCTGTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation