Incidental Mutation 'R8693:Cdk12'
ID |
668517 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdk12
|
Ensembl Gene |
ENSMUSG00000003119 |
Gene Name |
cyclin dependent kinase 12 |
Synonyms |
Crkrs, Crk7, D11Ertd752e, 1810022J16Rik |
MMRRC Submission |
068547-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8693 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
98093885-98169330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 98141133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 1458
(P1458L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103162
(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 |
unknown
Transcript: ENSMUST00000107538
AA Change: P1458L
|
SMART Domains |
Protein: ENSMUSP00000103162 Gene: ENSMUSG00000003119 AA Change: P1458L
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: P1449L
|
SMART Domains |
Protein: ENSMUSP00000103163 Gene: ENSMUSG00000003119 AA Change: P1449L
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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 |
Abcc2 |
T |
C |
19: 43,810,474 (GRCm39) |
S924P |
probably benign |
Het |
Acacb |
A |
G |
5: 114,364,844 (GRCm39) |
H1508R |
probably damaging |
Het |
Adam34 |
T |
C |
8: 44,104,641 (GRCm39) |
M335V |
probably benign |
Het |
Akap8 |
A |
T |
17: 32,529,625 (GRCm39) |
N438K |
probably damaging |
Het |
Alpi |
C |
A |
1: 87,026,405 (GRCm39) |
G529C |
unknown |
Het |
Arhgap30 |
T |
C |
1: 171,225,094 (GRCm39) |
V50A |
probably damaging |
Het |
Armh1 |
T |
C |
4: 117,088,960 (GRCm39) |
E145G |
probably damaging |
Het |
Ccdc177 |
A |
G |
12: 80,804,582 (GRCm39) |
L564P |
unknown |
Het |
Chek1 |
A |
G |
9: 36,625,140 (GRCm39) |
F314L |
probably benign |
Het |
Cndp1 |
T |
C |
18: 84,646,938 (GRCm39) |
D250G |
probably damaging |
Het |
Cnot3 |
T |
C |
7: 3,656,522 (GRCm39) |
V239A |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,258,492 (GRCm39) |
M2246T |
probably benign |
Het |
Crhr2 |
A |
G |
6: 55,079,779 (GRCm39) |
F187S |
possibly damaging |
Het |
Dchs2 |
T |
A |
3: 83,192,631 (GRCm39) |
V1692D |
probably damaging |
Het |
Dctd |
T |
A |
8: 48,565,046 (GRCm39) |
I57N |
probably damaging |
Het |
Dennd5b |
A |
T |
6: 148,911,272 (GRCm39) |
L977* |
probably null |
Het |
Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
Dysf |
T |
C |
6: 84,088,952 (GRCm39) |
S865P |
probably damaging |
Het |
Eif2ak3 |
A |
T |
6: 70,858,535 (GRCm39) |
I275F |
possibly damaging |
Het |
Eif2ak4 |
T |
A |
2: 118,262,718 (GRCm39) |
I757N |
probably damaging |
Het |
Exog |
A |
G |
9: 119,276,108 (GRCm39) |
Q110R |
possibly damaging |
Het |
Fbxl4 |
T |
C |
4: 22,403,704 (GRCm39) |
C426R |
probably benign |
Het |
Fndc11 |
A |
C |
2: 180,863,864 (GRCm39) |
H223P |
probably damaging |
Het |
Frmd3 |
T |
A |
4: 74,080,286 (GRCm39) |
S334R |
probably damaging |
Het |
Galnt14 |
A |
T |
17: 73,833,257 (GRCm39) |
I239N |
probably damaging |
Het |
Gm5930 |
C |
T |
14: 44,576,015 (GRCm39) |
M1I |
probably null |
Het |
Igkv4-63 |
A |
G |
6: 69,355,051 (GRCm39) |
S77P |
probably benign |
Het |
Igkv5-48 |
G |
A |
6: 69,703,779 (GRCm39) |
S42F |
probably damaging |
Het |
Kalrn |
T |
A |
16: 33,854,884 (GRCm39) |
Y1992F |
probably damaging |
Het |
Kmt2a |
T |
C |
9: 44,721,981 (GRCm39) |
Y3788C |
unknown |
Het |
Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,700,066 (GRCm39) |
N525S |
probably benign |
Het |
Med1 |
T |
C |
11: 98,046,599 (GRCm39) |
H1399R |
unknown |
Het |
Mga |
T |
A |
2: 119,794,407 (GRCm39) |
V2697E |
possibly damaging |
Het |
Msto1 |
T |
C |
3: 88,819,184 (GRCm39) |
T188A |
probably benign |
Het |
Nrap |
T |
C |
19: 56,310,384 (GRCm39) |
H1456R |
probably damaging |
Het |
Or10d1 |
G |
T |
9: 39,483,800 (GRCm39) |
P252T |
probably damaging |
Het |
Pbld1 |
A |
T |
10: 62,910,890 (GRCm39) |
K248* |
probably null |
Het |
Pcdhb12 |
G |
A |
18: 37,570,474 (GRCm39) |
R540H |
probably benign |
Het |
Pcx |
G |
T |
19: 4,652,039 (GRCm39) |
A96S |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,094,696 (GRCm39) |
I174V |
probably benign |
Het |
Psme3 |
T |
C |
11: 101,211,422 (GRCm39) |
I193T |
probably damaging |
Het |
Pygl |
A |
T |
12: 70,244,180 (GRCm39) |
M587K |
probably benign |
Het |
Rph3a |
A |
T |
5: 121,100,501 (GRCm39) |
H132Q |
probably damaging |
Het |
Scrib |
C |
A |
15: 75,936,354 (GRCm39) |
D501Y |
probably damaging |
Het |
Sdad1 |
C |
A |
5: 92,452,857 (GRCm39) |
R127L |
probably benign |
Het |
Setdb1 |
T |
C |
3: 95,249,041 (GRCm39) |
T356A |
probably damaging |
Het |
Sh3bgrl3 |
T |
C |
4: 133,855,116 (GRCm39) |
D73G |
probably benign |
Het |
Sipa1l1 |
G |
T |
12: 82,216,517 (GRCm39) |
|
probably benign |
Het |
Slc17a8 |
G |
A |
10: 89,428,758 (GRCm39) |
A261V |
probably benign |
Het |
Sox6 |
T |
A |
7: 115,261,632 (GRCm39) |
I195F |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,090,928 (GRCm39) |
K809E |
possibly damaging |
Het |
Tmem30c |
G |
A |
16: 57,086,855 (GRCm39) |
T316M |
probably damaging |
Het |
Tnfrsf19 |
T |
C |
14: 61,208,451 (GRCm39) |
T357A |
probably benign |
Het |
Top2a |
T |
A |
11: 98,900,868 (GRCm39) |
T574S |
probably damaging |
Het |
Trappc3l |
G |
A |
10: 33,974,917 (GRCm39) |
C133Y |
probably damaging |
Het |
Unk |
C |
T |
11: 115,938,640 (GRCm39) |
T81I |
probably damaging |
Het |
Vamp1 |
G |
A |
6: 125,217,388 (GRCm39) |
R144K |
unknown |
Het |
Wnt9b |
T |
C |
11: 103,624,487 (GRCm39) |
N101S |
probably damaging |
Het |
Wwtr1 |
T |
A |
3: 57,369,945 (GRCm39) |
D390V |
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 |
|
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'- ACCAGGGTTCCCTTAGCATTAC -3'
(R):5'- TTGACTTGCCTGCTAGCAG -3'
Sequencing Primer
(F):5'- CATTACACTCAGTGGTTGGGCAAC -3'
(R):5'- GCCAAATGCAGATGATTACCTTGC -3'
|
Posted On |
2021-04-30 |