Incidental Mutation 'R8862:Cdk14'
| ID |
675702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk14
|
| Ensembl Gene |
ENSMUSG00000028926 |
| Gene Name |
cyclin dependent kinase 14 |
| Synonyms |
Pftk1 |
| MMRRC Submission |
068741-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8862 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
4853384-5430251 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 5060862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 338
(I338L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030763]
[ENSMUST00000115450]
[ENSMUST00000115451]
[ENSMUST00000115452]
|
| AlphaFold |
O35495 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030763
AA Change: I338L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000030763
Gene: ENSMUSG00000028926
AA Change: I338L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
127 |
N/A |
INTRINSIC |
|
S_TKc
|
135 |
419 |
3.63e-85 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115450
AA Change: I292L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000111110
Gene: ENSMUSG00000028926
AA Change: I292L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
81 |
N/A |
INTRINSIC |
|
S_TKc
|
89 |
373 |
3.63e-85 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115451
AA Change: I292L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000111111
Gene: ENSMUSG00000028926
AA Change: I292L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
81 |
N/A |
INTRINSIC |
|
S_TKc
|
89 |
373 |
3.63e-85 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115452
AA Change: I320L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000111112
Gene: ENSMUSG00000028926
AA Change: I320L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
101 |
109 |
N/A |
INTRINSIC |
|
S_TKc
|
117 |
401 |
3.63e-85 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
C |
T |
14: 54,901,172 (GRCm39) |
G685R |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,791,129 (GRCm39) |
F790S |
possibly damaging |
Het |
| Alg10b |
T |
C |
15: 90,109,893 (GRCm39) |
Y69H |
probably damaging |
Het |
| Amer3 |
A |
T |
1: 34,626,465 (GRCm39) |
S235C |
probably damaging |
Het |
| Ankfy1 |
G |
T |
11: 72,644,469 (GRCm39) |
S722I |
probably benign |
Het |
| Baz1a |
T |
C |
12: 55,032,624 (GRCm39) |
|
probably benign |
Het |
| Ccdc177 |
A |
G |
12: 80,804,208 (GRCm39) |
S689P |
unknown |
Het |
| Cdh24 |
C |
A |
14: 54,869,874 (GRCm39) |
R681L |
probably damaging |
Het |
| Clec2m |
T |
C |
6: 129,308,494 (GRCm39) |
T12A |
probably benign |
Het |
| Col18a1 |
G |
T |
10: 76,949,044 (GRCm39) |
S156* |
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,663,348 (GRCm39) |
Y63C |
probably damaging |
Het |
| Cytip |
G |
A |
2: 58,037,887 (GRCm39) |
T159M |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,459,502 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,855,927 (GRCm39) |
Y744C |
probably damaging |
Het |
| Dop1a |
T |
C |
9: 86,406,404 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
T |
10: 34,029,934 (GRCm39) |
D385E |
probably damaging |
Het |
| Efhc1 |
A |
C |
1: 21,037,573 (GRCm39) |
D250A |
|
Het |
| Epha3 |
T |
A |
16: 63,431,348 (GRCm39) |
T519S |
probably benign |
Het |
| Gas2l3 |
A |
G |
10: 89,250,282 (GRCm39) |
Y279H |
probably damaging |
Het |
| Gatd3a |
A |
G |
10: 78,005,461 (GRCm39) |
S35P |
probably damaging |
Het |
| Gemin6 |
G |
A |
17: 80,535,432 (GRCm39) |
V131I |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gnai2 |
C |
A |
9: 107,512,326 (GRCm39) |
A31S |
|
Het |
| Greb1l |
A |
G |
18: 10,555,042 (GRCm39) |
D1696G |
possibly damaging |
Het |
| Itfg2 |
T |
C |
6: 128,394,668 (GRCm39) |
E35G |
probably damaging |
Het |
| Kctd10 |
A |
G |
5: 114,503,921 (GRCm39) |
F244L |
probably damaging |
Het |
| Kif19b |
C |
A |
5: 140,472,534 (GRCm39) |
P686Q |
probably damaging |
Het |
| Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
G |
T |
11: 78,860,716 (GRCm39) |
|
probably benign |
Het |
| Lrriq4 |
A |
T |
3: 30,705,088 (GRCm39) |
N372I |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,910,574 (GRCm39) |
N248S |
probably damaging |
Het |
| Mipep |
T |
A |
14: 61,080,689 (GRCm39) |
C560* |
probably null |
Het |
| Myo1a |
G |
A |
10: 127,548,653 (GRCm39) |
V396M |
probably benign |
Het |
| Myod1 |
A |
G |
7: 46,026,487 (GRCm39) |
T131A |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,647,199 (GRCm39) |
D558V |
possibly damaging |
Het |
| Odf2l |
T |
A |
3: 144,833,758 (GRCm39) |
|
probably benign |
Het |
| Or6d13 |
G |
A |
6: 116,518,186 (GRCm39) |
M257I |
probably benign |
Het |
| Plbd2 |
A |
T |
5: 120,624,728 (GRCm39) |
M480K |
probably damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,631,235 (GRCm39) |
F465L |
possibly damaging |
Het |
| Ppp1r15b |
A |
T |
1: 133,064,506 (GRCm39) |
I659F |
probably damaging |
Het |
| Prune2 |
C |
T |
19: 17,097,510 (GRCm39) |
L1005F |
probably benign |
Het |
| Pter |
T |
C |
2: 12,985,341 (GRCm39) |
S224P |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,266,731 (GRCm39) |
I615T |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,191,715 (GRCm39) |
|
probably null |
Het |
| Rps2 |
A |
G |
17: 24,940,662 (GRCm39) |
T259A |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| S1pr4 |
G |
A |
10: 81,334,533 (GRCm39) |
R314C |
probably damaging |
Het |
| Sema4f |
A |
T |
6: 82,891,081 (GRCm39) |
H575Q |
probably benign |
Het |
| Son |
A |
G |
16: 91,453,734 (GRCm39) |
D827G |
probably damaging |
Het |
| Sox8 |
A |
T |
17: 25,787,045 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Spink2 |
C |
T |
5: 77,357,615 (GRCm39) |
D24N |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,534,099 (GRCm39) |
D3452G |
probably benign |
Het |
| Syngr2 |
G |
T |
11: 117,703,507 (GRCm39) |
D108Y |
probably damaging |
Het |
| Tardbp |
G |
A |
4: 148,702,755 (GRCm39) |
S403L |
possibly damaging |
Het |
| Tomm70a |
T |
C |
16: 56,942,546 (GRCm39) |
S108P |
probably benign |
Het |
| Ttc12 |
T |
C |
9: 49,351,515 (GRCm39) |
T661A |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 89,006,824 (GRCm39) |
V66A |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,235,207 (GRCm39) |
L477Q |
probably damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,776,060 (GRCm39) |
C279S |
probably benign |
Het |
| Vmn2r79 |
T |
C |
7: 86,645,712 (GRCm39) |
S14P |
probably benign |
Het |
| Zan |
T |
C |
5: 137,472,674 (GRCm39) |
T72A |
probably benign |
Het |
| Zcchc2 |
A |
G |
1: 105,958,998 (GRCm39) |
*1156W |
probably null |
Het |
| Zfp354c |
A |
T |
11: 50,708,718 (GRCm39) |
D26E |
probably benign |
Het |
|
| Other mutations in Cdk14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00678:Cdk14
|
APN |
5 |
5,299,237 (GRCm39) |
splice site |
probably benign |
|
|
IGL01376:Cdk14
|
APN |
5 |
5,060,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02102:Cdk14
|
APN |
5 |
5,430,083 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02179:Cdk14
|
APN |
5 |
5,153,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02423:Cdk14
|
APN |
5 |
4,938,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03081:Cdk14
|
APN |
5 |
4,999,527 (GRCm39) |
splice site |
probably benign |
|
|
IGL02988:Cdk14
|
UTSW |
5 |
5,086,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0465:Cdk14
|
UTSW |
5 |
5,143,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Cdk14
|
UTSW |
5 |
5,185,422 (GRCm39) |
splice site |
probably benign |
|
|
R1452:Cdk14
|
UTSW |
5 |
4,938,927 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1601:Cdk14
|
UTSW |
5 |
5,185,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1629:Cdk14
|
UTSW |
5 |
5,153,807 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1659:Cdk14
|
UTSW |
5 |
4,999,571 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1809:Cdk14
|
UTSW |
5 |
5,060,901 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2013:Cdk14
|
UTSW |
5 |
5,143,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Cdk14
|
UTSW |
5 |
5,430,082 (GRCm39) |
missense |
probably benign |
|
|
R2256:Cdk14
|
UTSW |
5 |
4,938,924 (GRCm39) |
missense |
probably benign |
|
|
R2257:Cdk14
|
UTSW |
5 |
4,938,924 (GRCm39) |
missense |
probably benign |
|
|
R2908:Cdk14
|
UTSW |
5 |
5,299,051 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4324:Cdk14
|
UTSW |
5 |
5,086,532 (GRCm39) |
nonsense |
probably null |
|
|
R4432:Cdk14
|
UTSW |
5 |
5,086,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4907:Cdk14
|
UTSW |
5 |
5,299,140 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5426:Cdk14
|
UTSW |
5 |
4,938,975 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5708:Cdk14
|
UTSW |
5 |
5,316,036 (GRCm39) |
intron |
probably benign |
|
|
R6006:Cdk14
|
UTSW |
5 |
5,299,211 (GRCm39) |
start codon destroyed |
probably null |
0.33 |
|
R6120:Cdk14
|
UTSW |
5 |
4,944,029 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7048:Cdk14
|
UTSW |
5 |
5,143,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7104:Cdk14
|
UTSW |
5 |
5,245,325 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7712:Cdk14
|
UTSW |
5 |
5,430,061 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8046:Cdk14
|
UTSW |
5 |
5,299,159 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8121:Cdk14
|
UTSW |
5 |
5,277,195 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8195:Cdk14
|
UTSW |
5 |
5,277,159 (GRCm39) |
splice site |
probably null |
|
|
R8279:Cdk14
|
UTSW |
5 |
5,316,125 (GRCm39) |
intron |
probably benign |
|
|
R8312:Cdk14
|
UTSW |
5 |
4,944,141 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8543:Cdk14
|
UTSW |
5 |
5,430,079 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8728:Cdk14
|
UTSW |
5 |
5,470,117 (GRCm39) |
synonymous |
silent |
|
|
R8914:Cdk14
|
UTSW |
5 |
5,086,515 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8956:Cdk14
|
UTSW |
5 |
5,277,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9111:Cdk14
|
UTSW |
5 |
5,315,985 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9649:Cdk14
|
UTSW |
5 |
5,423,477 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9796:Cdk14
|
UTSW |
5 |
5,316,012 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1176:Cdk14
|
UTSW |
5 |
5,185,322 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Cdk14
|
UTSW |
5 |
4,938,894 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTAGTCAATGAATTCCCTGCTTC -3'
(R):5'- TTTCAGGACCAGTGTGGCTG -3'
Sequencing Primer
(F):5'- GTCAATGAATTCCCTGCTTCATAAAG -3'
(R):5'- GTGTATCTCACAGCTTTGATTGATC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation