Incidental Mutation 'R0124:Cdk12'
| ID |
21232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk12
|
| Ensembl Gene |
ENSMUSG00000003119 |
| Gene Name |
cyclin dependent kinase 12 |
| Synonyms |
Crkrs, Crk7, D11Ertd752e, 1810022J16Rik |
| MMRRC Submission |
038409-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
98093885-98169330 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 98102073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103163
(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 |
probably benign
Transcript: ENSMUST00000107538
|
| SMART Domains |
Protein: ENSMUSP00000103162
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 |
|
low complexity region
|
1252 |
1276 |
N/A |
INTRINSIC |
|
low complexity region
|
1467 |
1483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107539
|
| SMART Domains |
Protein: ENSMUSP00000103163
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 |
|
low complexity region
|
1253 |
1267 |
N/A |
INTRINSIC |
|
low complexity region
|
1458 |
1474 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.3%
- 10x: 95.7%
- 20x: 89.8%
|
| Validation Efficiency |
100% (67/67) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,138,656 (GRCm39) |
T194A |
probably benign |
Het |
| Afap1 |
C |
T |
5: 36,102,553 (GRCm39) |
P82S |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,449,698 (GRCm39) |
Y481H |
probably damaging |
Het |
| Arid1b |
C |
T |
17: 5,389,605 (GRCm39) |
T1717I |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,002,676 (GRCm39) |
K348R |
probably benign |
Het |
| Bcl3 |
C |
T |
7: 19,543,576 (GRCm39) |
V5M |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,118,725 (GRCm39) |
E2321G |
probably benign |
Het |
| Casq1 |
C |
T |
1: 172,037,992 (GRCm39) |
V380M |
probably damaging |
Het |
| Cd209e |
T |
A |
8: 3,901,274 (GRCm39) |
T127S |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,143,835 (GRCm39) |
Y2921* |
probably null |
Het |
| Cdh6 |
A |
G |
15: 13,034,410 (GRCm39) |
L750P |
probably damaging |
Het |
| Ces5a |
T |
C |
8: 94,255,183 (GRCm39) |
E170G |
probably damaging |
Het |
| Clec4f |
A |
G |
6: 83,629,335 (GRCm39) |
|
probably null |
Het |
| Col19a1 |
T |
C |
1: 24,565,539 (GRCm39) |
N264S |
unknown |
Het |
| Col2a1 |
T |
A |
15: 97,896,743 (GRCm39) |
I43F |
unknown |
Het |
| Col4a2 |
A |
G |
8: 11,458,871 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,454,112 (GRCm39) |
D3578V |
probably damaging |
Het |
| Cyp2c37 |
T |
C |
19: 39,982,546 (GRCm39) |
L128P |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,141,718 (GRCm39) |
S132P |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,042,084 (GRCm39) |
|
probably benign |
Het |
| Eml1 |
T |
C |
12: 108,472,867 (GRCm39) |
V225A |
probably benign |
Het |
| Eml1 |
A |
G |
12: 108,475,437 (GRCm39) |
Y256C |
probably damaging |
Het |
| Epb41l5 |
T |
A |
1: 119,561,370 (GRCm39) |
K64* |
probably null |
Het |
| Fat2 |
A |
G |
11: 55,174,504 (GRCm39) |
F2070L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,520,583 (GRCm39) |
H259N |
probably benign |
Het |
| Gm10764 |
A |
T |
10: 87,126,610 (GRCm39) |
T6S |
unknown |
Het |
| Gm14412 |
A |
G |
2: 177,007,705 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,133,646 (GRCm39) |
|
probably benign |
Het |
| Hid1 |
T |
C |
11: 115,247,649 (GRCm39) |
T250A |
probably damaging |
Het |
| Hnf4g |
A |
G |
3: 3,708,142 (GRCm39) |
|
probably benign |
Het |
| Ifnar1 |
C |
T |
16: 91,296,425 (GRCm39) |
Q309* |
probably null |
Het |
| Lrriq1 |
C |
T |
10: 103,006,281 (GRCm39) |
|
probably null |
Het |
| Map3k13 |
A |
G |
16: 21,722,506 (GRCm39) |
T223A |
possibly damaging |
Het |
| Matn2 |
C |
T |
15: 34,426,297 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,215,056 (GRCm39) |
E1253G |
probably damaging |
Het |
| Nomo1 |
G |
T |
7: 45,732,652 (GRCm39) |
|
probably benign |
Het |
| Or1ak2 |
A |
T |
2: 36,827,268 (GRCm39) |
I46F |
possibly damaging |
Het |
| Or4c116 |
A |
T |
2: 88,942,088 (GRCm39) |
I256K |
possibly damaging |
Het |
| Or8a1b |
A |
G |
9: 37,622,759 (GRCm39) |
V272A |
possibly damaging |
Het |
| Papolg |
C |
T |
11: 23,817,535 (GRCm39) |
A582T |
probably benign |
Het |
| Plekhm3 |
C |
T |
1: 64,960,910 (GRCm39) |
E449K |
probably damaging |
Het |
| Pole |
T |
G |
5: 110,451,858 (GRCm39) |
M900R |
probably damaging |
Het |
| Ppp1cb |
T |
A |
5: 32,640,822 (GRCm39) |
|
probably benign |
Het |
| Pramel17 |
A |
G |
4: 101,692,570 (GRCm39) |
*477Q |
probably null |
Het |
| Pros1 |
A |
G |
16: 62,734,309 (GRCm39) |
T372A |
possibly damaging |
Het |
| Scara3 |
A |
T |
14: 66,168,670 (GRCm39) |
S316T |
probably benign |
Het |
| Stau2 |
C |
T |
1: 16,533,352 (GRCm39) |
A61T |
probably damaging |
Het |
| Stx3 |
T |
C |
19: 11,769,163 (GRCm39) |
E54G |
possibly damaging |
Het |
| Sun1 |
T |
C |
5: 139,232,434 (GRCm39) |
|
probably benign |
Het |
| Swt1 |
A |
T |
1: 151,267,280 (GRCm39) |
C634S |
probably damaging |
Het |
| Syt6 |
A |
G |
3: 103,494,842 (GRCm39) |
Y269C |
probably damaging |
Het |
| Tfap2a |
G |
A |
13: 40,870,887 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,481,640 (GRCm39) |
|
probably null |
Het |
| Ttc39d |
T |
C |
17: 80,524,375 (GRCm39) |
C345R |
probably damaging |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,233 (GRCm39) |
Y257C |
probably damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,208,578 (GRCm39) |
T56S |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,576,674 (GRCm39) |
|
probably null |
Het |
| Wdr17 |
A |
G |
8: 55,088,526 (GRCm39) |
S1175P |
probably damaging |
Het |
| Wsb2 |
T |
C |
5: 117,501,823 (GRCm39) |
F63L |
probably benign |
Het |
| Zfp142 |
A |
G |
1: 74,607,782 (GRCm39) |
Y1561H |
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 |
|
|
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 |
|
|
R5151:Cdk12
|
UTSW |
11 |
98,140,749 (GRCm39) |
unclassified |
probably benign |
|
|
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'- CCTGTAGCACCGAAAGAGGTGATTG -3'
(R):5'- CAGTGAGTGTAACAAGACCCCATCC -3'
Sequencing Primer
(F):5'- AACCACCATTTAGTCAAGTTCCTG -3'
(R):5'- tgccaccaagcctaatgac -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation