Incidental Mutation 'R5620:Cdk12'
| ID |
439800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk12
|
| Ensembl Gene |
ENSMUSG00000003119 |
| Gene Name |
cyclin dependent kinase 12 |
| Synonyms |
Crkrs, Crk7, D11Ertd752e, 1810022J16Rik |
| MMRRC Submission |
043160-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5620 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
98093885-98169330 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98101809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 556
(I556V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003203]
[ENSMUST00000107538]
[ENSMUST00000107539]
|
| AlphaFold |
Q14AX6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000003203
AA Change: I556V
|
| SMART Domains |
Protein: ENSMUSP00000003203
Gene: ENSMUSG00000003119
AA Change: I556V
| 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: I556V
|
| SMART Domains |
Protein: ENSMUSP00000103162
Gene: ENSMUSG00000003119
AA Change: I556V
| 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: I556V
|
| SMART Domains |
Protein: ENSMUSP00000103163
Gene: ENSMUSG00000003119
AA Change: I556V
| 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: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
C |
15: 102,246,826 (GRCm39) |
S511A |
probably benign |
Het |
| Abca3 |
C |
T |
17: 24,615,444 (GRCm39) |
T845I |
probably benign |
Het |
| Acaa2 |
G |
A |
18: 74,938,945 (GRCm39) |
A377T |
possibly damaging |
Het |
| Adcy4 |
C |
A |
14: 56,009,824 (GRCm39) |
E743* |
probably null |
Het |
| Ahnak |
T |
A |
19: 8,990,458 (GRCm39) |
L3914* |
probably null |
Het |
| Akap1 |
G |
T |
11: 88,736,343 (GRCm39) |
N106K |
possibly damaging |
Het |
| Arid2 |
C |
T |
15: 96,270,387 (GRCm39) |
T1500I |
probably benign |
Het |
| Atp6v0a2 |
T |
A |
5: 124,783,909 (GRCm39) |
Y252* |
probably null |
Het |
| C4bp |
A |
G |
1: 130,581,090 (GRCm39) |
S140P |
probably damaging |
Het |
| Cald1 |
A |
G |
6: 34,739,047 (GRCm39) |
I384M |
probably damaging |
Het |
| Chmp2a |
T |
C |
7: 12,766,237 (GRCm39) |
S174G |
probably benign |
Het |
| Clybl |
T |
A |
14: 122,548,755 (GRCm39) |
N52K |
probably damaging |
Het |
| Cyp4a29 |
C |
A |
4: 115,108,088 (GRCm39) |
S303R |
probably benign |
Het |
| Dab2 |
T |
A |
15: 6,447,796 (GRCm39) |
D59E |
probably damaging |
Het |
| Dag1 |
C |
A |
9: 108,086,214 (GRCm39) |
R309L |
probably damaging |
Het |
| Dync1i2 |
T |
A |
2: 71,088,483 (GRCm39) |
M505K |
probably benign |
Het |
| Eif2b1 |
A |
T |
5: 124,717,075 (GRCm39) |
M1K |
probably null |
Het |
| Epc1 |
A |
G |
18: 6,448,917 (GRCm39) |
S577P |
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,463,945 (GRCm39) |
I23N |
possibly damaging |
Het |
| Etl4 |
A |
G |
2: 20,535,037 (GRCm39) |
E164G |
probably damaging |
Het |
| Firrm |
C |
A |
1: 163,789,613 (GRCm39) |
G641* |
probably null |
Het |
| Gadl1 |
A |
T |
9: 115,766,230 (GRCm39) |
M1L |
probably benign |
Het |
| Gda |
T |
C |
19: 21,374,908 (GRCm39) |
D336G |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,527,645 (GRCm39) |
V413D |
probably damaging |
Het |
| Hnrnpll |
G |
T |
17: 80,346,051 (GRCm39) |
N403K |
probably damaging |
Het |
| Ifit1 |
T |
A |
19: 34,625,238 (GRCm39) |
F125I |
probably damaging |
Het |
| Igkv5-43 |
C |
T |
6: 69,800,892 (GRCm39) |
V2I |
probably benign |
Het |
| Kat5 |
A |
C |
19: 5,659,507 (GRCm39) |
Y44* |
probably null |
Het |
| Klc2 |
A |
G |
19: 5,162,884 (GRCm39) |
V205A |
probably damaging |
Het |
| Klrb1c |
T |
A |
6: 128,761,706 (GRCm39) |
T133S |
possibly damaging |
Het |
| Krt20 |
A |
G |
11: 99,326,283 (GRCm39) |
L157P |
probably damaging |
Het |
| Krt26 |
G |
T |
11: 99,228,597 (GRCm39) |
T45N |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 26,866,876 (GRCm39) |
D2873N |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,020,532 (GRCm39) |
C114S |
possibly damaging |
Het |
| Lonp1 |
G |
C |
17: 56,927,263 (GRCm39) |
A330G |
probably benign |
Het |
| Maml2 |
A |
T |
9: 13,608,616 (GRCm39) |
R21S |
probably damaging |
Het |
| Mrpl35 |
C |
T |
6: 71,794,720 (GRCm39) |
V83I |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,069,254 (GRCm39) |
R498G |
probably benign |
Het |
| Nup153 |
C |
A |
13: 46,837,482 (GRCm39) |
E1247* |
probably null |
Het |
| Or2t48 |
A |
T |
11: 58,420,557 (GRCm39) |
M85K |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,257 (GRCm39) |
N79S |
probably benign |
Het |
| Pcgf6 |
C |
T |
19: 47,036,406 (GRCm39) |
G221D |
probably damaging |
Het |
| Phf11b |
C |
T |
14: 59,558,953 (GRCm39) |
D260N |
probably benign |
Het |
| Pla2g5 |
T |
C |
4: 138,531,921 (GRCm39) |
M28V |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,395,927 (GRCm39) |
S1934P |
possibly damaging |
Het |
| Prr5 |
A |
G |
15: 84,640,570 (GRCm39) |
S140G |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,501,098 (GRCm39) |
D1235G |
probably damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,455,031 (GRCm39) |
S254P |
probably damaging |
Het |
| Rassf8 |
C |
T |
6: 145,765,907 (GRCm39) |
|
probably benign |
Het |
| Rgs20 |
T |
A |
1: 4,982,666 (GRCm39) |
E167D |
probably damaging |
Het |
| Rmnd1 |
G |
T |
10: 4,372,159 (GRCm39) |
A180E |
probably damaging |
Het |
| Rnf103 |
A |
G |
6: 71,486,992 (GRCm39) |
D541G |
probably benign |
Het |
| Rpl9 |
G |
T |
5: 65,546,468 (GRCm39) |
Q140K |
probably benign |
Het |
| Sfmbt1 |
T |
G |
14: 30,506,148 (GRCm39) |
|
probably null |
Het |
| Shank1 |
C |
A |
7: 43,962,160 (GRCm39) |
D10E |
unknown |
Het |
| Srrm4 |
G |
T |
5: 116,587,672 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
T |
A |
14: 73,832,836 (GRCm39) |
V447E |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,331,055 (GRCm39) |
D78G |
probably benign |
Het |
| Tcp1 |
T |
A |
17: 13,138,224 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
C |
A |
19: 40,597,361 (GRCm39) |
E230* |
probably null |
Het |
| Thsd7b |
G |
A |
1: 130,090,673 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
A |
G |
1: 180,797,811 (GRCm39) |
M621V |
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,936,504 (GRCm39) |
K2756* |
probably null |
Het |
| Trpm8 |
G |
A |
1: 88,287,373 (GRCm39) |
|
probably null |
Het |
| Txndc16 |
C |
A |
14: 45,373,335 (GRCm39) |
V764F |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,492,020 (GRCm39) |
D3103V |
possibly damaging |
Het |
| Usp22 |
A |
T |
11: 61,049,206 (GRCm39) |
I381N |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,013,464 (GRCm39) |
M1810K |
probably benign |
Het |
| Zfp64 |
T |
A |
2: 168,741,888 (GRCm39) |
M347L |
possibly damaging |
Het |
| Zfp69 |
T |
C |
4: 120,787,719 (GRCm39) |
D532G |
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 |
|
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'- GTTAAACCTGTAGCACCGAAAG -3'
(R):5'- TCATCTCCAGGTAATAGGGGAGG -3'
Sequencing Primer
(F):5'- CCGAAAGAGGTGATTGTTACTTC -3'
(R):5'- TCTTCAGATGTGGAATAGCAGC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation