Incidental Mutation 'R0190:Cdk12'
| ID |
23180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk12
|
| Ensembl Gene |
ENSMUSG00000003119 |
| Gene Name |
cyclin dependent kinase 12 |
| Synonyms |
Crkrs, Crk7, D11Ertd752e, 1810022J16Rik |
| MMRRC Submission |
038451-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0190 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
98093885-98169330 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 98132657 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 null
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 null
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 null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147441
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184250
|
| Meta Mutation Damage Score |
0.9500 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 91.6%
- 20x: 72.5%
|
| Validation Efficiency |
75% (45/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl1 |
T |
C |
8: 46,966,429 (GRCm39) |
|
probably null |
Het |
| Aff2 |
CA |
CAAA |
X: 68,892,711 (GRCm39) |
|
probably null |
Het |
| Ankrd34a |
A |
G |
3: 96,505,105 (GRCm39) |
D103G |
probably damaging |
Het |
| Atp1b2 |
T |
C |
11: 69,492,388 (GRCm39) |
D224G |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,220,730 (GRCm39) |
D22G |
possibly damaging |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| Caskin1 |
C |
T |
17: 24,723,596 (GRCm39) |
L795F |
possibly damaging |
Het |
| Crtc2 |
A |
G |
3: 90,166,716 (GRCm39) |
H91R |
probably damaging |
Het |
| Dbt |
A |
G |
3: 116,332,736 (GRCm39) |
|
probably null |
Het |
| Dda1 |
C |
A |
8: 71,924,877 (GRCm39) |
Y41* |
probably null |
Het |
| Dnah2 |
T |
A |
11: 69,326,075 (GRCm39) |
D3692V |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,927,447 (GRCm39) |
T334A |
probably benign |
Het |
| Enthd1 |
C |
T |
15: 80,418,695 (GRCm39) |
|
probably null |
Het |
| Fpr-rs6 |
T |
A |
17: 20,402,741 (GRCm39) |
I207F |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,815,521 (GRCm39) |
S3751R |
possibly damaging |
Het |
| Gigyf2 |
A |
T |
1: 87,356,410 (GRCm39) |
|
probably benign |
Het |
| Gtf3c4 |
C |
A |
2: 28,730,140 (GRCm39) |
D34Y |
probably benign |
Het |
| Iftap |
G |
A |
2: 101,416,775 (GRCm39) |
S58L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,889,790 (GRCm39) |
V2419E |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,386,647 (GRCm39) |
I79L |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,098,957 (GRCm39) |
H1415R |
probably benign |
Het |
| Mad2l1 |
T |
C |
6: 66,516,862 (GRCm39) |
S185P |
possibly damaging |
Het |
| Mettl18 |
A |
G |
1: 163,823,991 (GRCm39) |
E104G |
probably damaging |
Het |
| Mrgprb2 |
G |
A |
7: 48,202,525 (GRCm39) |
H67Y |
possibly damaging |
Het |
| Mrgprd |
G |
A |
7: 144,875,439 (GRCm39) |
M103I |
probably benign |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Npc1 |
G |
A |
18: 12,324,887 (GRCm39) |
T1202I |
probably damaging |
Het |
| Nucks1 |
A |
G |
1: 131,852,329 (GRCm39) |
D60G |
probably damaging |
Het |
| Or10g7 |
A |
G |
9: 39,905,840 (GRCm39) |
I245V |
probably benign |
Het |
| Or13f5 |
G |
C |
4: 52,825,613 (GRCm39) |
W72S |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,302 (GRCm39) |
Y256F |
probably damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,271 (GRCm39) |
T142A |
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,796,843 (GRCm39) |
S119P |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,914,671 (GRCm39) |
D560G |
probably benign |
Het |
| Ppm1b |
T |
A |
17: 85,301,531 (GRCm39) |
V137E |
probably damaging |
Het |
| Ppp1r16b |
A |
C |
2: 158,537,983 (GRCm39) |
K35Q |
probably damaging |
Het |
| Prkd2 |
A |
T |
7: 16,603,815 (GRCm39) |
E832V |
probably damaging |
Het |
| Rab34 |
G |
T |
11: 78,082,232 (GRCm39) |
K191N |
possibly damaging |
Het |
| Rad51ap2 |
A |
C |
12: 11,508,540 (GRCm39) |
T821P |
probably benign |
Het |
| Rbm19 |
A |
G |
5: 120,282,111 (GRCm39) |
T823A |
probably benign |
Het |
| Rpf2 |
T |
G |
10: 40,103,597 (GRCm39) |
H106P |
probably damaging |
Het |
| Schip1 |
A |
G |
3: 68,533,177 (GRCm39) |
M453V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,920 (GRCm39) |
N310K |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,029,465 (GRCm39) |
D1179G |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,473,729 (GRCm39) |
T4S |
possibly damaging |
Het |
| Slc22a5 |
A |
T |
11: 53,760,241 (GRCm39) |
Y358* |
probably null |
Het |
| Slc34a1 |
T |
C |
13: 55,556,914 (GRCm39) |
M251T |
probably benign |
Het |
| Slc44a5 |
A |
G |
3: 153,944,755 (GRCm39) |
D124G |
probably null |
Het |
| Slc9b1 |
G |
A |
3: 135,063,434 (GRCm39) |
E73K |
unknown |
Het |
| Ssbp2 |
T |
C |
13: 91,817,829 (GRCm39) |
L156P |
probably damaging |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Trim47 |
A |
G |
11: 115,997,053 (GRCm39) |
V568A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,718,324 (GRCm39) |
|
probably benign |
Het |
| Ttpa |
A |
T |
4: 20,021,260 (GRCm39) |
I74F |
probably damaging |
Het |
| Vmn2r52 |
T |
C |
7: 9,905,315 (GRCm39) |
I175V |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,731,011 (GRCm39) |
C1350Y |
probably benign |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp422 |
A |
T |
6: 116,603,572 (GRCm39) |
D142E |
probably damaging |
Het |
| Zfp473 |
A |
T |
7: 44,382,612 (GRCm39) |
C574S |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,905,946 (GRCm39) |
M37K |
probably damaging |
Het |
| Zfp976 |
C |
A |
7: 42,291,948 (GRCm39) |
|
probably benign |
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 |
|
|
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'- TCATGCCTTAGAGCTGTTGCTCAC -3'
(R):5'- TGACCCTTACTGACCTGACACTGAC -3'
Sequencing Primer
(F):5'- CTTAGAGCTGTTGCTCACATTAG -3'
(R):5'- AGAACTGTTCTTTCAGTGTGAGAAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation