Incidental Mutation 'R9793:Cdk12'
ID |
734766 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdk12
|
Ensembl Gene |
ENSMUSG00000003119 |
Gene Name |
cyclin dependent kinase 12 |
Synonyms |
Crkrs, Crk7, D11Ertd752e, 1810022J16Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9793 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
98093885-98169330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98102051 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 636
(D636E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103162
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003203]
[ENSMUST00000107538]
[ENSMUST00000107539]
|
AlphaFold |
Q14AX6 |
Predicted Effect |
unknown
Transcript: ENSMUST00000003203
AA Change: D636E
|
SMART Domains |
Protein: ENSMUSP00000003203 Gene: ENSMUSG00000003119 AA Change: D636E
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: D636E
|
SMART Domains |
Protein: ENSMUSP00000103162 Gene: ENSMUSG00000003119 AA Change: D636E
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: D636E
|
SMART Domains |
Protein: ENSMUSP00000103163 Gene: ENSMUSG00000003119 AA Change: D636E
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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add2 |
A |
T |
6: 86,078,135 (GRCm39) |
|
probably null |
Het |
Afap1l1 |
T |
C |
18: 61,874,822 (GRCm39) |
D453G |
possibly damaging |
Het |
Agrn |
A |
G |
4: 156,261,129 (GRCm39) |
V656A |
probably benign |
Het |
Aldh3a1 |
T |
C |
11: 61,108,927 (GRCm39) |
Y443H |
probably damaging |
Het |
Alpk3 |
T |
C |
7: 80,750,881 (GRCm39) |
|
probably null |
Het |
Ano1 |
A |
T |
7: 144,175,434 (GRCm39) |
W495R |
probably damaging |
Het |
Apc |
T |
A |
18: 34,447,628 (GRCm39) |
L1508Q |
probably damaging |
Het |
Cald1 |
A |
T |
6: 34,723,071 (GRCm39) |
M52L |
|
Het |
Ccdc9b |
T |
C |
2: 118,587,784 (GRCm39) |
S517G |
unknown |
Het |
Cdk11b |
T |
A |
4: 155,732,378 (GRCm39) |
H510Q |
unknown |
Het |
Cfap53 |
A |
G |
18: 74,438,741 (GRCm39) |
D306G |
probably benign |
Het |
Cntln |
C |
T |
4: 84,985,798 (GRCm39) |
L951F |
probably benign |
Het |
Cntnap4 |
T |
C |
8: 113,608,357 (GRCm39) |
V1259A |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,409,192 (GRCm39) |
T477S |
probably benign |
Het |
Cyp4a30b |
A |
G |
4: 115,316,167 (GRCm39) |
T298A |
probably benign |
Het |
Dop1b |
T |
A |
16: 93,598,503 (GRCm39) |
D2006E |
probably benign |
Het |
Ermard |
T |
C |
17: 15,281,441 (GRCm39) |
L617P |
probably damaging |
Het |
Glipr1l2 |
A |
G |
10: 111,942,905 (GRCm39) |
I253M |
probably benign |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Grik3 |
A |
G |
4: 125,526,315 (GRCm39) |
T183A |
probably damaging |
Het |
Hao1 |
T |
A |
2: 134,372,552 (GRCm39) |
Y152F |
possibly damaging |
Het |
Hdac7 |
T |
C |
15: 97,698,671 (GRCm39) |
T629A |
possibly damaging |
Het |
Hmcn1 |
G |
A |
1: 150,608,689 (GRCm39) |
P1498S |
possibly damaging |
Het |
Iqcf3 |
T |
A |
9: 106,434,714 (GRCm39) |
K41N |
probably benign |
Het |
Kif26a |
C |
T |
12: 112,142,887 (GRCm39) |
A1047V |
probably damaging |
Het |
Lrriq3 |
T |
C |
3: 154,893,313 (GRCm39) |
M338T |
probably benign |
Het |
Map1a |
T |
C |
2: 121,121,304 (GRCm39) |
|
probably null |
Het |
Ncoa2 |
G |
T |
1: 13,260,355 (GRCm39) |
Q107K |
possibly damaging |
Het |
Nsd2 |
A |
G |
5: 34,003,489 (GRCm39) |
D213G |
possibly damaging |
Het |
Nuggc |
T |
C |
14: 65,847,345 (GRCm39) |
S131P |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,964,232 (GRCm39) |
E1272G |
probably damaging |
Het |
Or2y1 |
A |
T |
11: 49,385,882 (GRCm39) |
N174I |
probably damaging |
Het |
Or4a78 |
T |
C |
2: 89,497,811 (GRCm39) |
I140V |
probably benign |
Het |
Or4f14c |
T |
C |
2: 111,941,330 (GRCm39) |
H89R |
probably benign |
Het |
Or52m1 |
G |
A |
7: 102,289,788 (GRCm39) |
V112I |
probably benign |
Het |
Or5b113 |
A |
T |
19: 13,342,514 (GRCm39) |
H174L |
probably damaging |
Het |
Or8h9 |
T |
A |
2: 86,789,119 (GRCm39) |
I228F |
probably damaging |
Het |
Otud7a |
C |
T |
7: 63,378,845 (GRCm39) |
R232W |
probably damaging |
Het |
Pacsin3 |
C |
A |
2: 91,094,160 (GRCm39) |
A363D |
probably benign |
Het |
Pcdh17 |
C |
T |
14: 84,770,350 (GRCm39) |
R943* |
probably null |
Het |
Pkd1 |
A |
G |
17: 24,800,172 (GRCm39) |
T2978A |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,406,983 (GRCm39) |
S2407P |
probably benign |
Het |
Ppip5k2 |
A |
T |
1: 97,671,822 (GRCm39) |
Y489* |
probably null |
Het |
Rasgrp1 |
T |
C |
2: 117,118,429 (GRCm39) |
D520G |
probably benign |
Het |
Rbm20 |
C |
A |
19: 53,852,551 (GRCm39) |
T1177K |
probably benign |
Het |
Rex2 |
A |
C |
4: 147,142,039 (GRCm39) |
N176H |
probably damaging |
Het |
Rsl1d1 |
T |
C |
16: 11,017,300 (GRCm39) |
N194S |
possibly damaging |
Het |
Sel1l3 |
C |
A |
5: 53,329,924 (GRCm39) |
R477L |
probably benign |
Het |
Sidt2 |
A |
G |
9: 45,850,563 (GRCm39) |
Y851H |
probably damaging |
Het |
Sirpb1b |
G |
A |
3: 15,640,074 (GRCm39) |
|
probably benign |
Het |
Slc6a7 |
C |
A |
18: 61,138,866 (GRCm39) |
R214L |
probably benign |
Het |
Srrt |
G |
C |
5: 137,294,835 (GRCm39) |
I739M |
probably benign |
Het |
Tbc1d22a |
T |
C |
15: 86,119,839 (GRCm39) |
L81P |
probably damaging |
Het |
Trim42 |
A |
G |
9: 97,245,429 (GRCm39) |
I457T |
probably damaging |
Het |
Ttc23l |
T |
A |
15: 10,537,731 (GRCm39) |
I180F |
probably benign |
Het |
Usp9y |
T |
C |
Y: 1,364,679 (GRCm39) |
M1045V |
probably benign |
Het |
Vim |
A |
G |
2: 13,579,598 (GRCm39) |
D119G |
probably benign |
Het |
Vmn2r118 |
T |
C |
17: 55,899,496 (GRCm39) |
T803A |
probably damaging |
Het |
Vwa3a |
C |
A |
7: 120,383,307 (GRCm39) |
A636D |
probably damaging |
Het |
Wdr26 |
A |
G |
1: 181,036,812 (GRCm39) |
F143S |
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 |
|
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 |
|
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'- ACCACCATTTAGTCAAGTTCCTG -3'
(R):5'- GGTGTCCATCAAGAAATTCAGC -3'
Sequencing Primer
(F):5'- AGTCAAGTTCCTGTTTCAAGTACTTC -3'
(R):5'- GCCTAATGACTGATACCTGGGATC -3'
|
Posted On |
2022-11-14 |