Incidental Mutation 'R4574:Cdk12'
| ID |
342348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk12
|
| Ensembl Gene |
ENSMUSG00000003119 |
| Gene Name |
cyclin dependent kinase 12 |
| Synonyms |
Crkrs, Crk7, D11Ertd752e, 1810022J16Rik |
| MMRRC Submission |
041797-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98093885-98169330 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 98111814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103163
(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 |
probably benign
Transcript: ENSMUST00000107538
|
| SMART Domains |
Protein: ENSMUSP00000103162
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 |
|
low complexity region
|
1252 |
1276 |
N/A |
INTRINSIC |
|
low complexity region
|
1467 |
1483 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107539
|
| SMART Domains |
Protein: ENSMUSP00000103163
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 |
|
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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (63/65) |
| 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 |
|---|
| Adam1b |
A |
C |
5: 121,638,856 (GRCm39) |
S730A |
probably benign |
Het |
| Adamts9 |
G |
A |
6: 92,856,940 (GRCm39) |
R319* |
probably null |
Het |
| Anapc1 |
G |
T |
2: 128,469,115 (GRCm39) |
S1575R |
probably damaging |
Het |
| Appbp2 |
A |
T |
11: 85,100,764 (GRCm39) |
|
probably null |
Het |
| Bcas2 |
C |
T |
3: 103,081,666 (GRCm39) |
P90S |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cd101 |
T |
C |
3: 100,920,469 (GRCm39) |
N477D |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,290,804 (GRCm39) |
E634G |
probably benign |
Het |
| Cltb |
C |
T |
13: 54,746,574 (GRCm39) |
R64H |
probably damaging |
Het |
| Cpt1b |
G |
T |
15: 89,308,247 (GRCm39) |
|
probably null |
Het |
| Ctf2 |
T |
G |
7: 127,318,556 (GRCm39) |
T148P |
possibly damaging |
Het |
| Ddx23 |
G |
A |
15: 98,545,505 (GRCm39) |
T601I |
probably damaging |
Het |
| Dlx6 |
G |
T |
6: 6,865,305 (GRCm39) |
|
probably benign |
Het |
| Dmrtb1 |
A |
T |
4: 107,534,265 (GRCm39) |
N183K |
possibly damaging |
Het |
| Dnah11 |
A |
G |
12: 117,975,990 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
C |
T |
15: 28,367,909 (GRCm39) |
P2765S |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,063,164 (GRCm39) |
N2698I |
probably damaging |
Het |
| Fpr-rs6 |
T |
A |
17: 20,403,359 (GRCm39) |
M1L |
probably damaging |
Het |
| Gm4841 |
T |
C |
18: 60,402,998 (GRCm39) |
N365S |
probably benign |
Het |
| Gsdmc2 |
C |
T |
15: 63,699,872 (GRCm39) |
|
probably null |
Het |
| Irx5 |
G |
A |
8: 93,084,890 (GRCm39) |
V27I |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,697,405 (GRCm39) |
V101D |
possibly damaging |
Het |
| Maip1 |
A |
C |
1: 57,452,404 (GRCm39) |
K219Q |
possibly damaging |
Het |
| Mpp7 |
G |
T |
18: 7,353,228 (GRCm39) |
R493S |
probably benign |
Het |
| Ms4a14 |
T |
C |
19: 11,281,335 (GRCm39) |
T408A |
probably benign |
Het |
| Mthfr |
A |
G |
4: 148,127,998 (GRCm39) |
N117S |
possibly damaging |
Het |
| Mtres1 |
T |
A |
10: 43,409,006 (GRCm39) |
S46C |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,176,893 (GRCm39) |
I613V |
probably benign |
Het |
| Neurl1b |
A |
G |
17: 26,650,860 (GRCm39) |
Q44R |
probably benign |
Het |
| Nup54 |
T |
A |
5: 92,573,641 (GRCm39) |
N187I |
probably benign |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or5ak22 |
C |
A |
2: 85,230,370 (GRCm39) |
C169F |
probably damaging |
Het |
| Pate2 |
C |
A |
9: 35,596,969 (GRCm39) |
|
probably benign |
Het |
| Pccb |
T |
C |
9: 100,867,252 (GRCm39) |
S445G |
probably damaging |
Het |
| Pex3 |
G |
A |
10: 13,411,315 (GRCm39) |
Q188* |
probably null |
Het |
| Pikfyve |
T |
A |
1: 65,231,351 (GRCm39) |
W74R |
probably damaging |
Het |
| Plcl2 |
T |
C |
17: 50,914,874 (GRCm39) |
S628P |
probably damaging |
Het |
| Pnldc1 |
T |
C |
17: 13,111,669 (GRCm39) |
H346R |
probably benign |
Het |
| Pom121l2 |
T |
A |
13: 22,168,572 (GRCm39) |
C948S |
probably benign |
Het |
| Pspc1 |
A |
T |
14: 56,999,404 (GRCm39) |
M284K |
possibly damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,277,919 (GRCm39) |
L414S |
probably damaging |
Het |
| Rgs13 |
T |
A |
1: 144,016,583 (GRCm39) |
K53N |
probably damaging |
Het |
| Rorc |
T |
C |
3: 94,296,291 (GRCm39) |
S163P |
probably benign |
Het |
| Rpl3l |
A |
C |
17: 24,952,984 (GRCm39) |
T315P |
possibly damaging |
Het |
| Rsph3b |
A |
G |
17: 7,172,438 (GRCm39) |
V487A |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,416,080 (GRCm39) |
E462G |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,576,344 (GRCm39) |
T838A |
probably damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,008,561 (GRCm39) |
Y236H |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,442,457 (GRCm39) |
R1984H |
probably damaging |
Het |
| Steap3 |
G |
T |
1: 120,169,186 (GRCm39) |
D370E |
probably benign |
Het |
| Sumf1 |
A |
G |
6: 108,085,393 (GRCm39) |
|
probably benign |
Het |
| Telo2 |
T |
C |
17: 25,320,647 (GRCm39) |
E754G |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,972,353 (GRCm39) |
F604L |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,639,131 (GRCm39) |
D1734E |
probably benign |
Het |
| Tsfm |
A |
C |
10: 126,864,242 (GRCm39) |
Y158D |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,197,591 (GRCm39) |
|
probably benign |
Het |
| Upk3a |
G |
T |
15: 84,904,752 (GRCm39) |
V167F |
possibly damaging |
Het |
| Vmn2r19 |
C |
T |
6: 123,292,939 (GRCm39) |
S327L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,858,965 (GRCm39) |
I2805N |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,673,534 (GRCm39) |
D166G |
possibly 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 |
|
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'- TTTAGTGAACACTTACACACCTCTC -3'
(R):5'- GATGGCCAATTTATTCTTTTGGAAC -3'
Sequencing Primer
(F):5'- CCACTACCTTGTACCTTTGAAGC -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation