Incidental Mutation 'R5779:Cdk12'
ID |
501513 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdk12
|
Ensembl Gene |
ENSMUSG00000003119 |
Gene Name |
cyclin dependent kinase 12 |
Synonyms |
Crkrs, Crk7, D11Ertd752e, 1810022J16Rik |
MMRRC Submission |
043377-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5779 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
98093885-98169330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98109900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 640
(S640R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003203]
[ENSMUST00000107538]
[ENSMUST00000107539]
|
AlphaFold |
Q14AX6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003203
AA Change: S640R
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000003203 Gene: ENSMUSG00000003119 AA Change: S640R
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
AA Change: S640R
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103162 Gene: ENSMUSG00000003119 AA Change: S640R
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
AA Change: S640R
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103163 Gene: ENSMUSG00000003119 AA Change: S640R
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: ENSMUST00000145113
|
Meta Mutation Damage Score |
0.0720 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
88% (52/59) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,075,496 (GRCm39) |
M1332V |
probably benign |
Het |
Acsbg3 |
A |
T |
17: 57,188,061 (GRCm39) |
N190Y |
probably benign |
Het |
Afg3l2 |
T |
C |
18: 67,573,513 (GRCm39) |
K132R |
probably null |
Het |
Antkmt |
A |
G |
17: 26,009,631 (GRCm39) |
V194A |
probably benign |
Het |
Arap3 |
T |
C |
18: 38,117,418 (GRCm39) |
D886G |
probably damaging |
Het |
B3gntl1 |
G |
T |
11: 121,542,502 (GRCm39) |
|
probably null |
Het |
Ceacam12 |
C |
A |
7: 17,803,079 (GRCm39) |
P162T |
probably benign |
Het |
Chrna5 |
C |
A |
9: 54,905,388 (GRCm39) |
H67N |
probably benign |
Het |
Copb1 |
T |
A |
7: 113,818,807 (GRCm39) |
D837V |
probably damaging |
Het |
Dcaf5 |
C |
T |
12: 80,385,606 (GRCm39) |
R840H |
probably benign |
Het |
Ect2l |
T |
A |
10: 18,039,186 (GRCm39) |
Q324L |
probably benign |
Het |
Eef1e1 |
T |
C |
13: 38,830,249 (GRCm39) |
N141S |
probably damaging |
Het |
Eif2ak4 |
A |
C |
2: 118,243,444 (GRCm39) |
N208T |
possibly damaging |
Het |
Ext1 |
A |
G |
15: 53,207,949 (GRCm39) |
Y271H |
probably damaging |
Het |
Fbxo5 |
G |
A |
10: 5,750,303 (GRCm39) |
R323C |
possibly damaging |
Het |
Fpr-rs3 |
C |
A |
17: 20,844,488 (GRCm39) |
A218S |
possibly damaging |
Het |
Gm20499 |
G |
A |
5: 114,955,082 (GRCm39) |
|
probably benign |
Het |
Gm57859 |
A |
G |
11: 113,578,818 (GRCm39) |
D71G |
probably benign |
Het |
Gucy1b2 |
C |
A |
14: 62,651,750 (GRCm39) |
L400F |
possibly damaging |
Het |
Hgd |
T |
A |
16: 37,413,733 (GRCm39) |
L24H |
probably benign |
Het |
Hmx3 |
C |
A |
7: 131,146,057 (GRCm39) |
S255* |
probably null |
Het |
Ifrd1 |
A |
T |
12: 40,253,369 (GRCm39) |
F448I |
probably damaging |
Het |
Igfn1 |
T |
A |
1: 135,894,578 (GRCm39) |
E1996V |
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,329,104 (GRCm39) |
G173R |
probably damaging |
Het |
Kbtbd8 |
T |
C |
6: 95,095,515 (GRCm39) |
S26P |
probably benign |
Het |
Kctd17 |
A |
T |
15: 78,321,333 (GRCm39) |
|
probably benign |
Het |
Matr3 |
T |
C |
18: 35,717,575 (GRCm39) |
S258P |
possibly damaging |
Het |
Mpp4 |
G |
A |
1: 59,190,825 (GRCm39) |
A90V |
probably benign |
Het |
Mrpl20 |
G |
A |
4: 155,891,378 (GRCm39) |
R34Q |
probably damaging |
Het |
Neb |
A |
T |
2: 52,135,313 (GRCm39) |
S3266T |
probably damaging |
Het |
Nipal3 |
A |
G |
4: 135,179,650 (GRCm39) |
|
probably benign |
Het |
Npas2 |
A |
T |
1: 39,326,652 (GRCm39) |
T46S |
possibly damaging |
Het |
Nsd3 |
G |
T |
8: 26,172,685 (GRCm39) |
E815* |
probably null |
Het |
Nup98 |
C |
A |
7: 101,801,568 (GRCm39) |
V786L |
probably benign |
Het |
Or4k2 |
A |
T |
14: 50,424,203 (GRCm39) |
M157K |
possibly damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,434,520 (GRCm39) |
V162A |
probably benign |
Het |
Pcgf2 |
G |
A |
11: 97,581,117 (GRCm39) |
P58L |
probably damaging |
Het |
Penk |
A |
G |
4: 4,134,318 (GRCm39) |
F110L |
probably damaging |
Het |
Relch |
T |
G |
1: 105,615,072 (GRCm39) |
N246K |
probably damaging |
Het |
Scfd1 |
A |
G |
12: 51,478,312 (GRCm39) |
N508S |
probably benign |
Het |
Scn2a |
T |
C |
2: 65,594,827 (GRCm39) |
V1892A |
probably benign |
Het |
Sema6a |
G |
A |
18: 47,381,893 (GRCm39) |
R885C |
probably damaging |
Het |
Sik2 |
T |
C |
9: 50,807,145 (GRCm39) |
H755R |
probably benign |
Het |
Slc36a3 |
A |
T |
11: 55,026,094 (GRCm39) |
Y241* |
probably null |
Het |
Smg5 |
T |
C |
3: 88,258,925 (GRCm39) |
|
probably benign |
Het |
Spag9 |
A |
G |
11: 94,005,079 (GRCm39) |
T1049A |
probably benign |
Het |
Tas2r103 |
T |
C |
6: 133,013,908 (GRCm39) |
M53V |
probably benign |
Het |
Tpr |
C |
T |
1: 150,299,292 (GRCm39) |
A1090V |
probably damaging |
Het |
Traf5 |
T |
A |
1: 191,729,633 (GRCm39) |
R473W |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,175,707 (GRCm39) |
|
probably null |
Het |
Vit |
A |
G |
17: 78,853,855 (GRCm39) |
T34A |
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 |
|
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 |
|
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'- TGTCAGGTGTTCCATAGAGTTTT -3'
(R):5'- CATCCTGTTAAACTTACTTTGGTCT -3'
Sequencing Primer
(F):5'- ATCCCACTATAGATGGCTGTGAGC -3'
(R):5'- CTCTTTTTATATGGTTGTTGAGGTGG -3'
|
Posted On |
2017-12-01 |