Incidental Mutation 'R2422:Cdk12'
ID |
249385 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdk12
|
Ensembl Gene |
ENSMUSG00000003119 |
Gene Name |
cyclin dependent kinase 12 |
Synonyms |
Crkrs, Crk7, D11Ertd752e, 1810022J16Rik |
MMRRC Submission |
040384-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2422 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
98093885-98169330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
99% (77/78) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
T |
2: 68,421,864 (GRCm39) |
N47I |
probably benign |
Het |
Actr5 |
T |
C |
2: 158,478,001 (GRCm39) |
F457S |
probably damaging |
Het |
Adamts3 |
A |
G |
5: 89,831,034 (GRCm39) |
S1007P |
probably damaging |
Het |
Adck2 |
C |
T |
6: 39,560,932 (GRCm39) |
A440V |
possibly damaging |
Het |
Birc6 |
T |
A |
17: 74,967,609 (GRCm39) |
L301Q |
probably damaging |
Het |
Ccdc121rt3 |
A |
T |
5: 112,502,984 (GRCm39) |
V240D |
probably damaging |
Het |
Ccdc18 |
A |
C |
5: 108,376,454 (GRCm39) |
E1298D |
probably damaging |
Het |
Ccdc77 |
A |
G |
6: 120,316,120 (GRCm39) |
C186R |
probably benign |
Het |
Cdv3 |
T |
C |
9: 103,242,317 (GRCm39) |
|
probably benign |
Het |
Celf2 |
G |
A |
2: 6,558,700 (GRCm39) |
T364I |
probably damaging |
Het |
Cmtr2 |
C |
A |
8: 110,949,413 (GRCm39) |
S574R |
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,313,318 (GRCm39) |
L56P |
unknown |
Het |
Cracdl |
C |
A |
1: 37,652,556 (GRCm39) |
V1084L |
probably benign |
Het |
Dctn1 |
C |
T |
6: 83,176,782 (GRCm39) |
L1241F |
possibly damaging |
Het |
Depdc5 |
T |
C |
5: 33,148,379 (GRCm39) |
F1505S |
probably damaging |
Het |
Dhcr24 |
G |
T |
4: 106,418,291 (GRCm39) |
|
probably benign |
Het |
Dnajc21 |
A |
G |
15: 10,462,021 (GRCm39) |
S127P |
probably benign |
Het |
Entpd7 |
A |
T |
19: 43,716,527 (GRCm39) |
Y507F |
possibly damaging |
Het |
Fbp1 |
T |
C |
13: 63,019,120 (GRCm39) |
K24E |
probably benign |
Het |
Galr1 |
A |
T |
18: 82,424,048 (GRCm39) |
N76K |
probably damaging |
Het |
Glrb |
A |
G |
3: 80,767,542 (GRCm39) |
I226T |
probably damaging |
Het |
Gm17421 |
T |
A |
12: 113,333,107 (GRCm39) |
|
noncoding transcript |
Het |
Gm4950 |
T |
A |
18: 51,998,856 (GRCm39) |
Q33L |
probably benign |
Het |
Gnat2 |
A |
T |
3: 108,002,855 (GRCm39) |
M88L |
probably damaging |
Het |
Gpr183 |
A |
G |
14: 122,191,589 (GRCm39) |
Y311H |
probably damaging |
Het |
H2-M10.5 |
A |
G |
17: 37,085,891 (GRCm39) |
I308V |
probably benign |
Het |
Hipk3 |
C |
T |
2: 104,301,830 (GRCm39) |
G121R |
probably benign |
Het |
Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
Homez |
C |
A |
14: 55,095,031 (GRCm39) |
V226F |
probably benign |
Het |
Inf2 |
C |
A |
12: 112,577,258 (GRCm39) |
A1034D |
unknown |
Het |
Kcnc4 |
G |
T |
3: 107,352,863 (GRCm39) |
P572T |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,760,147 (GRCm39) |
E1037G |
unknown |
Het |
Krt78 |
T |
C |
15: 101,855,699 (GRCm39) |
E704G |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,057,548 (GRCm39) |
M541L |
probably benign |
Het |
Lmbrd2 |
C |
T |
15: 9,194,852 (GRCm39) |
T618M |
possibly damaging |
Het |
Ly6g6e |
G |
A |
17: 35,297,122 (GRCm39) |
R121Q |
probably benign |
Het |
Mettl22 |
T |
C |
16: 8,305,225 (GRCm39) |
F293L |
probably damaging |
Het |
Mib1 |
T |
C |
18: 10,751,906 (GRCm39) |
S263P |
probably damaging |
Het |
Ndufaf1 |
T |
C |
2: 119,486,218 (GRCm39) |
E298G |
probably damaging |
Het |
Nek1 |
T |
C |
8: 61,472,935 (GRCm39) |
V152A |
probably damaging |
Het |
Nlrp4d |
T |
A |
7: 10,096,872 (GRCm39) |
D876V |
probably benign |
Het |
Or10d5 |
A |
G |
9: 39,861,824 (GRCm39) |
L81P |
possibly damaging |
Het |
Or11g7 |
T |
C |
14: 50,690,893 (GRCm39) |
L128P |
probably damaging |
Het |
Or5an11 |
A |
T |
19: 12,246,283 (GRCm39) |
T230S |
probably damaging |
Het |
Or5k15 |
T |
C |
16: 58,710,328 (GRCm39) |
E85G |
probably benign |
Het |
Pcdha11 |
G |
T |
18: 37,140,325 (GRCm39) |
L651F |
probably damaging |
Het |
Plekhg1 |
G |
A |
10: 3,908,048 (GRCm39) |
M988I |
probably benign |
Het |
Plxnb1 |
G |
A |
9: 108,937,506 (GRCm39) |
R1169H |
probably benign |
Het |
Ppp4r3a |
A |
G |
12: 101,008,912 (GRCm39) |
|
probably benign |
Het |
Pum2 |
A |
T |
12: 8,798,931 (GRCm39) |
Q930L |
possibly damaging |
Het |
Rbp4 |
T |
C |
19: 38,112,792 (GRCm39) |
E67G |
probably damaging |
Het |
Rgs9 |
C |
A |
11: 109,116,603 (GRCm39) |
|
probably null |
Het |
Semp2l1 |
C |
T |
1: 32,584,942 (GRCm39) |
A323T |
possibly damaging |
Het |
Sipa1 |
A |
T |
19: 5,702,140 (GRCm39) |
D923E |
possibly damaging |
Het |
Smc1a |
A |
G |
X: 150,830,971 (GRCm39) |
|
probably benign |
Het |
Snx33 |
C |
A |
9: 56,825,822 (GRCm39) |
M546I |
probably benign |
Het |
Spag17 |
T |
A |
3: 99,934,935 (GRCm39) |
W714R |
probably benign |
Het |
Spata2 |
C |
T |
2: 167,326,126 (GRCm39) |
R231Q |
probably damaging |
Het |
Stard9 |
C |
T |
2: 120,530,765 (GRCm39) |
R2341C |
probably benign |
Het |
Tas2r116 |
A |
T |
6: 132,832,557 (GRCm39) |
I53F |
possibly damaging |
Het |
Tlk1 |
T |
C |
2: 70,600,349 (GRCm39) |
E110G |
probably damaging |
Het |
Tmem102 |
T |
A |
11: 69,695,363 (GRCm39) |
E203V |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Tyw5 |
A |
G |
1: 57,435,907 (GRCm39) |
I82T |
possibly damaging |
Het |
Uba6 |
A |
G |
5: 86,280,475 (GRCm39) |
|
probably null |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,838,829 (GRCm39) |
Y674C |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,448,097 (GRCm39) |
R242S |
probably benign |
Het |
Vmn2r12 |
A |
G |
5: 109,234,398 (GRCm39) |
Y605H |
probably benign |
Het |
Wdr77 |
A |
T |
3: 105,867,337 (GRCm39) |
K62* |
probably null |
Het |
Zfhx4 |
C |
A |
3: 5,455,465 (GRCm39) |
A1153E |
probably benign |
Het |
Zfp266 |
C |
A |
9: 20,410,558 (GRCm39) |
V540L |
possibly damaging |
Het |
Zfp638 |
C |
A |
6: 83,943,421 (GRCm39) |
|
probably benign |
Het |
Zfp644 |
A |
G |
5: 106,785,110 (GRCm39) |
M479T |
possibly damaging |
Het |
Zfp951 |
G |
A |
5: 104,963,143 (GRCm39) |
T141I |
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 |
|
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'- TGTCAGGTGTTCCATAGAGTTTT -3'
(R):5'- CACATCCTGTTAAACTTACTTTGGT -3'
Sequencing Primer
(F):5'- ATCCCACTATAGATGGCTGTGAGC -3'
(R):5'- GGTCTCTTTTTATATGGTTGTTGAGG -3'
|
Posted On |
2014-11-12 |