Incidental Mutation 'R8269:Dmtf1'
ID |
639487 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dmtf1
|
Ensembl Gene |
ENSMUSG00000042508 |
Gene Name |
cyclin D binding myb like transcription factor 1 |
Synonyms |
Dmp1 |
MMRRC Submission |
067693-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.542)
|
Stock # |
R8269 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 9182500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 211
(Y211*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000183448]
[ENSMUST00000183525]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184159]
[ENSMUST00000184372]
[ENSMUST00000184401]
[ENSMUST00000184620]
[ENSMUST00000184888]
[ENSMUST00000196029]
|
AlphaFold |
Q8CE22 |
Predicted Effect |
probably null
Transcript: ENSMUST00000071921
AA Change: Y211*
|
SMART Domains |
Protein: ENSMUSP00000071815 Gene: ENSMUSG00000042508 AA Change: Y211*
Domain | Start | End | E-Value | Type |
SANT
|
223 |
270 |
2.52e-10 |
SMART |
SANT
|
272 |
331 |
6.05e-13 |
SMART |
SANT
|
335 |
390 |
5.36e-5 |
SMART |
low complexity region
|
522 |
542 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000095017
AA Change: Y211*
|
SMART Domains |
Protein: ENSMUSP00000092627 Gene: ENSMUSG00000042508 AA Change: Y211*
Domain | Start | End | E-Value | Type |
SANT
|
223 |
270 |
2.52e-10 |
SMART |
SANT
|
272 |
331 |
6.05e-13 |
SMART |
SANT
|
335 |
390 |
5.36e-5 |
SMART |
low complexity region
|
452 |
472 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183448
AA Change: Y211*
|
SMART Domains |
Protein: ENSMUSP00000139042 Gene: ENSMUSG00000042508 AA Change: Y211*
Domain | Start | End | E-Value | Type |
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183525
|
SMART Domains |
Protein: ENSMUSP00000139339 Gene: ENSMUSG00000042508
Domain | Start | End | E-Value | Type |
Blast:SANT
|
152 |
191 |
2e-20 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183973
AA Change: Y123*
|
SMART Domains |
Protein: ENSMUSP00000139361 Gene: ENSMUSG00000042508 AA Change: Y123*
Domain | Start | End | E-Value | Type |
SANT
|
135 |
182 |
2.52e-10 |
SMART |
SANT
|
184 |
243 |
6.05e-13 |
SMART |
SANT
|
247 |
302 |
5.36e-5 |
SMART |
low complexity region
|
434 |
454 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184120
AA Change: Y211*
|
SMART Domains |
Protein: ENSMUSP00000138861 Gene: ENSMUSG00000042508 AA Change: Y211*
Domain | Start | End | E-Value | Type |
Blast:SANT
|
152 |
226 |
6e-48 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184159
AA Change: Y170*
|
SMART Domains |
Protein: ENSMUSP00000139231 Gene: ENSMUSG00000042508 AA Change: Y170*
Domain | Start | End | E-Value | Type |
SANT
|
182 |
229 |
2.52e-10 |
SMART |
SANT
|
231 |
290 |
6.05e-13 |
SMART |
SANT
|
294 |
349 |
5.36e-5 |
SMART |
low complexity region
|
391 |
406 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184372
AA Change: Y211*
|
SMART Domains |
Protein: ENSMUSP00000139191 Gene: ENSMUSG00000042508 AA Change: Y211*
Domain | Start | End | E-Value | Type |
Blast:SANT
|
152 |
226 |
7e-49 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184401
AA Change: Y211*
|
SMART Domains |
Protein: ENSMUSP00000139281 Gene: ENSMUSG00000042508 AA Change: Y211*
Domain | Start | End | E-Value | Type |
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184620
AA Change: Y170*
|
SMART Domains |
Protein: ENSMUSP00000138816 Gene: ENSMUSG00000042508 AA Change: Y170*
Domain | Start | End | E-Value | Type |
Blast:SANT
|
111 |
185 |
4e-48 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184888
AA Change: Y211*
|
SMART Domains |
Protein: ENSMUSP00000139164 Gene: ENSMUSG00000042508 AA Change: Y211*
Domain | Start | End | E-Value | Type |
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196029
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (51/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that contains a cyclin D-binding domain, three central Myb-like repeats, and two flanking acidic transactivation domains at the N- and C-termini. The encoded protein is induced by the oncogenic Ras signaling pathway and functions as a tumor suppressor by activating the transcription of ARF and thus the ARF-p53 pathway to arrest cell growth or induce apoptosis. It also activates the transcription of aminopeptidase N and may play a role in hematopoietic cell differentiation. The transcriptional activity of this protein is regulated by binding of D-cyclins. This gene is hemizygously deleted in approximately 40% of human non-small-cell lung cancer and is a potential prognostic and gene-therapy target for non-small-cell lung cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] PHENOTYPE: Homozygous mutants exhibit partial postnatal lethality, small size, and decreased thymocyte number. Some mutants exhibit seizures and/or obstructive uropathy. Males have dilated seminal vesicles. Mice develop spontaneous tumors in the second year of life, and are susceptible to induced tumors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
T |
C |
14: 8,246,325 (GRCm38) |
T489A |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,121,079 (GRCm39) |
C850S |
probably damaging |
Het |
Ago3 |
T |
A |
4: 126,270,721 (GRCm39) |
K258* |
probably null |
Het |
Akap11 |
G |
A |
14: 78,750,818 (GRCm39) |
T523I |
|
Het |
Amigo2 |
G |
T |
15: 97,144,112 (GRCm39) |
N103K |
possibly damaging |
Het |
Arfgap3 |
A |
C |
15: 83,194,542 (GRCm39) |
S377A |
probably benign |
Het |
Arhgap39 |
G |
T |
15: 76,635,942 (GRCm39) |
Q98K |
probably benign |
Het |
Atp1a4 |
T |
C |
1: 172,059,892 (GRCm39) |
D779G |
probably damaging |
Het |
Bckdhb |
T |
C |
9: 84,004,417 (GRCm39) |
I388T |
probably benign |
Het |
Ccpg1 |
G |
A |
9: 72,913,001 (GRCm39) |
R179H |
probably damaging |
Het |
Cd109 |
A |
G |
9: 78,572,964 (GRCm39) |
K496R |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,478,389 (GRCm39) |
F979L |
probably damaging |
Het |
Cyb5r1 |
T |
A |
1: 134,334,803 (GRCm39) |
|
probably benign |
Het |
D130040H23Rik |
T |
A |
8: 69,755,800 (GRCm39) |
S402T |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,145,810 (GRCm39) |
|
probably null |
Het |
Emc10 |
G |
T |
7: 44,141,408 (GRCm39) |
Q227K |
possibly damaging |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Exosc4 |
A |
T |
15: 76,211,732 (GRCm39) |
I14L |
probably benign |
Het |
Fat2 |
T |
C |
11: 55,173,535 (GRCm39) |
T2393A |
possibly damaging |
Het |
Flg2 |
A |
T |
3: 93,109,187 (GRCm39) |
H405L |
possibly damaging |
Het |
Gin1 |
T |
A |
1: 97,710,929 (GRCm39) |
M204K |
probably damaging |
Het |
Gm57858 |
A |
T |
3: 36,100,862 (GRCm39) |
N103K |
possibly damaging |
Het |
Gnal |
A |
G |
18: 67,268,693 (GRCm39) |
D193G |
possibly damaging |
Het |
Itpr3 |
G |
T |
17: 27,312,258 (GRCm39) |
R554L |
possibly damaging |
Het |
Lipc |
A |
G |
9: 70,727,655 (GRCm39) |
L149P |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,388,724 (GRCm39) |
Y2234H |
unknown |
Het |
Lsm14b |
T |
C |
2: 179,674,407 (GRCm39) |
S317P |
probably damaging |
Het |
Mapk4 |
G |
C |
18: 74,063,622 (GRCm39) |
F533L |
probably damaging |
Het |
Mgll |
T |
A |
6: 88,790,930 (GRCm39) |
Y183* |
probably null |
Het |
Mrrf |
T |
A |
2: 36,037,973 (GRCm39) |
D81E |
possibly damaging |
Het |
Ncan |
T |
A |
8: 70,560,330 (GRCm39) |
Q879L |
probably benign |
Het |
Nox4 |
T |
G |
7: 86,955,930 (GRCm39) |
|
probably benign |
Het |
Or4p18 |
A |
T |
2: 88,232,381 (GRCm39) |
V299D |
probably damaging |
Het |
Or5p67 |
A |
T |
7: 107,922,776 (GRCm39) |
C36S |
probably benign |
Het |
Pcdhb10 |
A |
G |
18: 37,547,062 (GRCm39) |
K713E |
probably benign |
Het |
Phkb |
A |
G |
8: 86,756,211 (GRCm39) |
D835G |
probably benign |
Het |
Pld1 |
A |
G |
3: 28,079,388 (GRCm39) |
N63D |
probably benign |
Het |
Pls1 |
G |
T |
9: 95,644,023 (GRCm39) |
T491K |
probably damaging |
Het |
Plscr1 |
A |
G |
9: 92,145,095 (GRCm39) |
D35G |
unknown |
Het |
Slc28a2b |
C |
T |
2: 122,352,169 (GRCm39) |
H336Y |
probably damaging |
Het |
Slc3a1 |
A |
G |
17: 85,339,982 (GRCm39) |
K180R |
probably benign |
Het |
Suv39h1 |
G |
T |
X: 7,937,270 (GRCm39) |
Q129K |
probably benign |
Het |
Tbc1d8 |
A |
G |
1: 39,465,169 (GRCm39) |
V73A |
probably benign |
Het |
Tmem161a |
T |
A |
8: 70,634,608 (GRCm39) |
V421E |
probably benign |
Het |
Topbp1 |
C |
A |
9: 103,205,792 (GRCm39) |
P810Q |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,425,325 (GRCm39) |
V1717M |
probably benign |
Het |
Vmn2r55 |
T |
A |
7: 12,404,585 (GRCm39) |
T273S |
possibly damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,423,188 (GRCm39) |
D1062G |
probably damaging |
Het |
Zcrb1 |
A |
G |
15: 93,295,056 (GRCm39) |
Y27H |
probably benign |
Het |
Zfp128 |
G |
A |
7: 12,624,663 (GRCm39) |
G344R |
probably damaging |
Het |
|
Other mutations in Dmtf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02215:Dmtf1
|
APN |
5 |
9,186,070 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02323:Dmtf1
|
APN |
5 |
9,170,056 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02652:Dmtf1
|
APN |
5 |
9,171,853 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02680:Dmtf1
|
APN |
5 |
9,180,381 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02732:Dmtf1
|
APN |
5 |
9,186,098 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL03002:Dmtf1
|
APN |
5 |
9,190,474 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03074:Dmtf1
|
APN |
5 |
9,174,435 (GRCm39) |
intron |
probably benign |
|
R0149:Dmtf1
|
UTSW |
5 |
9,182,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R0466:Dmtf1
|
UTSW |
5 |
9,182,454 (GRCm39) |
critical splice donor site |
probably null |
|
R0825:Dmtf1
|
UTSW |
5 |
9,180,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R0973:Dmtf1
|
UTSW |
5 |
9,177,987 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0973:Dmtf1
|
UTSW |
5 |
9,177,987 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0974:Dmtf1
|
UTSW |
5 |
9,177,987 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1068:Dmtf1
|
UTSW |
5 |
9,186,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R1293:Dmtf1
|
UTSW |
5 |
9,190,383 (GRCm39) |
splice site |
probably null |
|
R1478:Dmtf1
|
UTSW |
5 |
9,171,404 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1515:Dmtf1
|
UTSW |
5 |
9,190,384 (GRCm39) |
critical splice donor site |
probably null |
|
R1861:Dmtf1
|
UTSW |
5 |
9,170,347 (GRCm39) |
splice site |
probably null |
|
R1898:Dmtf1
|
UTSW |
5 |
9,178,091 (GRCm39) |
missense |
probably damaging |
0.99 |
R1970:Dmtf1
|
UTSW |
5 |
9,198,989 (GRCm39) |
missense |
probably benign |
0.01 |
R1971:Dmtf1
|
UTSW |
5 |
9,198,989 (GRCm39) |
missense |
probably benign |
0.01 |
R2519:Dmtf1
|
UTSW |
5 |
9,179,323 (GRCm39) |
missense |
possibly damaging |
0.71 |
R3053:Dmtf1
|
UTSW |
5 |
9,179,316 (GRCm39) |
missense |
probably damaging |
0.99 |
R3195:Dmtf1
|
UTSW |
5 |
9,182,454 (GRCm39) |
intron |
probably benign |
|
R4467:Dmtf1
|
UTSW |
5 |
9,186,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R4490:Dmtf1
|
UTSW |
5 |
9,190,379 (GRCm39) |
intron |
probably benign |
|
R4491:Dmtf1
|
UTSW |
5 |
9,190,379 (GRCm39) |
intron |
probably benign |
|
R5007:Dmtf1
|
UTSW |
5 |
9,172,439 (GRCm39) |
unclassified |
probably benign |
|
R5173:Dmtf1
|
UTSW |
5 |
9,190,356 (GRCm39) |
intron |
probably benign |
|
R5184:Dmtf1
|
UTSW |
5 |
9,176,641 (GRCm39) |
missense |
probably benign |
0.36 |
R5646:Dmtf1
|
UTSW |
5 |
9,174,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5958:Dmtf1
|
UTSW |
5 |
9,172,415 (GRCm39) |
unclassified |
probably benign |
|
R5977:Dmtf1
|
UTSW |
5 |
9,190,451 (GRCm39) |
missense |
probably damaging |
0.99 |
R6184:Dmtf1
|
UTSW |
5 |
9,176,656 (GRCm39) |
missense |
probably benign |
|
R6887:Dmtf1
|
UTSW |
5 |
9,187,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R6921:Dmtf1
|
UTSW |
5 |
9,180,654 (GRCm39) |
intron |
probably benign |
|
R7242:Dmtf1
|
UTSW |
5 |
9,199,016 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7706:Dmtf1
|
UTSW |
5 |
9,174,489 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7721:Dmtf1
|
UTSW |
5 |
9,176,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R7739:Dmtf1
|
UTSW |
5 |
9,190,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R7742:Dmtf1
|
UTSW |
5 |
9,172,457 (GRCm39) |
unclassified |
probably benign |
|
R7859:Dmtf1
|
UTSW |
5 |
9,178,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R7883:Dmtf1
|
UTSW |
5 |
9,190,397 (GRCm39) |
missense |
probably benign |
0.35 |
R7975:Dmtf1
|
UTSW |
5 |
9,179,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R8479:Dmtf1
|
UTSW |
5 |
9,170,428 (GRCm39) |
missense |
probably damaging |
0.97 |
R8782:Dmtf1
|
UTSW |
5 |
9,179,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R9296:Dmtf1
|
UTSW |
5 |
9,190,467 (GRCm39) |
missense |
probably benign |
0.01 |
R9359:Dmtf1
|
UTSW |
5 |
9,171,927 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9372:Dmtf1
|
UTSW |
5 |
9,190,399 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9403:Dmtf1
|
UTSW |
5 |
9,171,927 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCACACAACCTGTTACTAGC -3'
(R):5'- GCATTAGAGTCTCTCAATGTCATTG -3'
Sequencing Primer
(F):5'- GGTTTCATTTAAAGTCAAACGACGTC -3'
(R):5'- AGAGTCTCTCAATGTCATTGTTGACC -3'
|
Posted On |
2020-07-28 |