Incidental Mutation 'R5235:Dek'
| ID |
398320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dek
|
| Ensembl Gene |
ENSMUSG00000021377 |
| Gene Name |
DEK proto-oncogene |
| Synonyms |
DEK proto-oncogene (DNA binding), D13H6S231E, 1810019E15Rik |
| MMRRC Submission |
042807-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.684)
|
| Stock # |
R5235 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
47238251-47259677 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1883 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 47239955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021807]
[ENSMUST00000037025]
[ENSMUST00000135278]
[ENSMUST00000224150]
|
| AlphaFold |
Q7TNV0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021807
AA Change: Y359*
|
| SMART Domains |
Protein: ENSMUSP00000021807
Gene: ENSMUSG00000021377
AA Change: Y359*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
SAP
|
153 |
187 |
2.97e-8 |
SMART |
|
low complexity region
|
190 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
315 |
N/A |
INTRINSIC |
|
Pfam:DEK_C
|
327 |
379 |
3.4e-19 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000037025
|
| SMART Domains |
Protein: ENSMUSP00000038373
Gene: ENSMUSG00000038080
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-CW
|
138 |
191 |
2.6e-13 |
PFAM |
|
low complexity region
|
235 |
253 |
N/A |
INTRINSIC |
|
Pfam:SWIRM
|
286 |
369 |
6e-12 |
PFAM |
|
Pfam:Pyr_redox_2
|
368 |
490 |
3.1e-8 |
PFAM |
|
Pfam:Thi4
|
375 |
446 |
2.2e-10 |
PFAM |
|
Pfam:FAD_binding_3
|
388 |
423 |
4.1e-7 |
PFAM |
|
Pfam:HI0933_like
|
389 |
428 |
1.6e-7 |
PFAM |
|
Pfam:FAD_binding_2
|
390 |
428 |
1.6e-6 |
PFAM |
|
Pfam:Pyr_redox
|
390 |
438 |
8e-8 |
PFAM |
|
Pfam:NAD_binding_8
|
393 |
460 |
1.6e-13 |
PFAM |
|
Pfam:Amino_oxidase
|
398 |
824 |
3.7e-86 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128977
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135278
|
| SMART Domains |
Protein: ENSMUSP00000121663
Gene: ENSMUSG00000021377
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
69 |
N/A |
INTRINSIC |
|
SAP
|
153 |
187 |
2.97e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138401
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143518
|
| SMART Domains |
Protein: ENSMUSP00000114999
Gene: ENSMUSG00000038080
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIRM
|
3 |
86 |
1.1e-12 |
PFAM |
|
Pfam:Thi4
|
91 |
163 |
3.5e-10 |
PFAM |
|
Pfam:FAD_binding_3
|
105 |
140 |
3.5e-7 |
PFAM |
|
Pfam:HI0933_like
|
106 |
145 |
1.7e-7 |
PFAM |
|
Pfam:Pyr_redox_2
|
106 |
251 |
1.5e-10 |
PFAM |
|
Pfam:FAD_binding_2
|
107 |
150 |
5.7e-7 |
PFAM |
|
Pfam:Pyr_redox
|
107 |
158 |
6.4e-8 |
PFAM |
|
Pfam:Pyr_redox_3
|
109 |
288 |
1.2e-13 |
PFAM |
|
Pfam:NAD_binding_8
|
110 |
177 |
2.3e-13 |
PFAM |
|
Pfam:Amino_oxidase
|
115 |
181 |
8.6e-19 |
PFAM |
|
Pfam:Amino_oxidase
|
178 |
441 |
4.5e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224150
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit delayed development of DMBA- and TPA-induced papillomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
A |
7: 41,274,256 (GRCm39) |
H126Q |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Aga |
A |
G |
8: 53,967,361 (GRCm39) |
H124R |
probably damaging |
Het |
| Ank1 |
G |
A |
8: 23,572,212 (GRCm39) |
G49R |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,096,714 (GRCm39) |
V270L |
possibly damaging |
Het |
| Arfrp1 |
T |
C |
2: 181,001,298 (GRCm39) |
H145R |
probably benign |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Atg3 |
A |
G |
16: 44,979,520 (GRCm39) |
T20A |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,881 (GRCm39) |
L112P |
probably damaging |
Het |
| Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,492,674 (GRCm39) |
T3156A |
probably benign |
Het |
| Dag1 |
T |
C |
9: 108,084,897 (GRCm39) |
Y748C |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,748,609 (GRCm39) |
V695M |
probably benign |
Het |
| Gpx7 |
A |
G |
4: 108,258,189 (GRCm39) |
S135P |
probably damaging |
Het |
| Ido2 |
A |
T |
8: 25,037,202 (GRCm39) |
I168N |
probably damaging |
Het |
| Lca5 |
A |
T |
9: 83,305,107 (GRCm39) |
L233* |
probably null |
Het |
| Liph |
A |
C |
16: 21,802,785 (GRCm39) |
L95V |
probably damaging |
Het |
| Mast1 |
A |
T |
8: 85,640,068 (GRCm39) |
L1113Q |
probably damaging |
Het |
| Nlrx1 |
C |
T |
9: 44,175,047 (GRCm39) |
G243D |
probably damaging |
Het |
| Or4ac1-ps1 |
G |
A |
2: 88,370,769 (GRCm39) |
|
noncoding transcript |
Het |
| Or5d40 |
T |
A |
2: 88,015,912 (GRCm39) |
D230E |
probably benign |
Het |
| Otoa |
T |
C |
7: 120,755,693 (GRCm39) |
L1033P |
probably damaging |
Het |
| Ovol3 |
A |
T |
7: 29,932,899 (GRCm39) |
Y179N |
possibly damaging |
Het |
| Papss2 |
A |
G |
19: 32,616,619 (GRCm39) |
N215S |
probably benign |
Het |
| Pcdhga8 |
T |
C |
18: 37,860,488 (GRCm39) |
Y515H |
probably damaging |
Het |
| Phlda1 |
CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC |
CCAGCCCCAACCTCAGCCCCAACC |
10: 111,343,252 (GRCm39) |
|
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,582,355 (GRCm39) |
N1568Y |
probably damaging |
Het |
| Sec16b |
A |
T |
1: 157,362,334 (GRCm39) |
I251F |
probably benign |
Het |
| Slc29a4 |
T |
A |
5: 142,704,523 (GRCm39) |
I355N |
probably damaging |
Het |
| Snx29 |
G |
T |
16: 11,231,110 (GRCm39) |
C39F |
possibly damaging |
Het |
| Spata16 |
A |
G |
3: 26,721,781 (GRCm39) |
M101V |
probably benign |
Het |
| Stat2 |
T |
C |
10: 128,126,901 (GRCm39) |
|
probably null |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,393 (GRCm39) |
D137G |
probably damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,993,802 (GRCm39) |
E97G |
probably damaging |
Het |
| Ugt8a |
A |
C |
3: 125,661,129 (GRCm39) |
H454Q |
probably damaging |
Het |
| Vmn2r27 |
T |
A |
6: 124,169,013 (GRCm39) |
I706L |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 101,994,972 (GRCm39) |
I3256V |
probably null |
Het |
|
| Other mutations in Dek |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01930:Dek
|
APN |
13 |
47,241,611 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1438:Dek
|
UTSW |
13 |
47,241,647 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4118:Dek
|
UTSW |
13 |
47,242,076 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5847:Dek
|
UTSW |
13 |
47,255,077 (GRCm39) |
unclassified |
probably benign |
|
|
R6285:Dek
|
UTSW |
13 |
47,252,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Dek
|
UTSW |
13 |
47,252,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6903:Dek
|
UTSW |
13 |
47,251,663 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7120:Dek
|
UTSW |
13 |
47,253,659 (GRCm39) |
missense |
unknown |
|
|
R7359:Dek
|
UTSW |
13 |
47,259,065 (GRCm39) |
missense |
unknown |
|
|
R7372:Dek
|
UTSW |
13 |
47,259,053 (GRCm39) |
missense |
unknown |
|
|
R7504:Dek
|
UTSW |
13 |
47,241,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Dek
|
UTSW |
13 |
47,252,930 (GRCm39) |
missense |
unknown |
|
|
RF016:Dek
|
UTSW |
13 |
47,251,662 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Dek
|
UTSW |
13 |
47,259,102 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCTACCATGTGTACTATGAACC -3'
(R):5'- AGCACTAAGAATGTCAGGTGAC -3'
Sequencing Primer
(F):5'- TCCTCATCCATATTAACTCTGAGATG -3'
(R):5'- AGAATGTCAGGTGACTTTATTGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation