Incidental Mutation 'R9403:Dmtf1'
| ID |
711334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmtf1
|
| Ensembl Gene |
ENSMUSG00000042508 |
| Gene Name |
cyclin D binding myb-like transcription factor 1 |
| Synonyms |
Dmp1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.542)
|
| Stock # |
R9403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
9118801-9161776 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9121927 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 503
(L503S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000115365]
[ENSMUST00000183448]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184159]
[ENSMUST00000184401]
[ENSMUST00000184620]
[ENSMUST00000184888]
[ENSMUST00000196029]
[ENSMUST00000198935]
|
| AlphaFold |
Q8CE22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071921
AA Change: L503S
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: L503S
| 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 damaging
Transcript: ENSMUST00000095017
AA Change: L433S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: L433S
| 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 benign
Transcript: ENSMUST00000115365
|
| SMART Domains |
Protein: ENSMUSP00000111022
Gene: ENSMUSG00000079659
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2678
|
1 |
118 |
2.4e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183448
|
| SMART Domains |
Protein: ENSMUSP00000139042
Gene: ENSMUSG00000042508
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183973
AA Change: L415S
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: L415S
| 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 benign
Transcript: ENSMUST00000184120
|
| SMART Domains |
Protein: ENSMUSP00000138861
Gene: ENSMUSG00000042508
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
6e-48 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184159
|
| SMART Domains |
Protein: ENSMUSP00000139231
Gene: ENSMUSG00000042508
| 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 benign
Transcript: ENSMUST00000184370
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184401
|
| SMART Domains |
Protein: ENSMUSP00000139281
Gene: ENSMUSG00000042508
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184620
|
| SMART Domains |
Protein: ENSMUSP00000138816
Gene: ENSMUSG00000042508
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
111 |
185 |
4e-48 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184888
|
| SMART Domains |
Protein: ENSMUSP00000139164
Gene: ENSMUSG00000042508
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198935
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123L14Rik |
T |
G |
6: 96,165,299 (GRCm38) |
T255P |
probably benign |
Het |
| 4930444G20Rik |
C |
T |
10: 22,067,941 (GRCm38) |
D47N |
possibly damaging |
Het |
| Angpt4 |
C |
T |
2: 151,938,972 (GRCm38) |
T380M |
probably damaging |
Het |
| Apoa5 |
G |
C |
9: 46,270,646 (GRCm38) |
R340P |
probably damaging |
Het |
| Cyp3a41a |
T |
A |
5: 145,702,198 (GRCm38) |
Y320F |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 135,168,396 (GRCm38) |
V1795A |
probably benign |
Het |
| Dpys |
C |
G |
15: 39,828,071 (GRCm38) |
W285S |
probably damaging |
Het |
| Fam187b |
T |
C |
7: 30,977,090 (GRCm38) |
V8A |
|
Het |
| Fbn2 |
T |
C |
18: 58,066,107 (GRCm38) |
E1363G |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,187,793 (GRCm38) |
R453Q |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,522,256 (GRCm38) |
T130A |
probably damaging |
Het |
| Gm5591 |
T |
A |
7: 38,520,148 (GRCm38) |
M434L |
probably benign |
Het |
| Gpld1 |
G |
A |
13: 24,979,729 (GRCm38) |
V502I |
probably benign |
Het |
| Inhba |
A |
G |
13: 16,017,381 (GRCm38) |
H29R |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,325,660 (GRCm38) |
I990N |
possibly damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,543,077 (GRCm38) |
I280L |
probably benign |
Het |
| Malrd1 |
T |
C |
2: 15,614,177 (GRCm38) |
V284A |
|
Het |
| Maml2 |
C |
T |
9: 13,621,673 (GRCm38) |
Q728* |
probably null |
Het |
| Mkln1 |
T |
C |
6: 31,432,970 (GRCm38) |
L181P |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,580,204 (GRCm38) |
|
probably null |
Het |
| Muc16 |
A |
G |
9: 18,537,764 (GRCm38) |
|
probably null |
Het |
| Mylk |
C |
A |
16: 34,875,642 (GRCm38) |
S249* |
probably null |
Het |
| Naa35 |
G |
A |
13: 59,601,003 (GRCm38) |
A150T |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,219,830 (GRCm38) |
E1092D |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,199,974 (GRCm38) |
R635H |
probably benign |
Het |
| Olfr263 |
T |
C |
13: 21,133,695 (GRCm38) |
F307L |
probably benign |
Het |
| Olfr723 |
T |
C |
14: 49,929,449 (GRCm38) |
T32A |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,810,532 (GRCm38) |
I26V |
probably benign |
Het |
| Polq |
T |
C |
16: 37,061,853 (GRCm38) |
S1460P |
probably benign |
Het |
| Ptgdr |
A |
G |
14: 44,853,258 (GRCm38) |
S348P |
|
Het |
| Qsox1 |
A |
G |
1: 155,782,597 (GRCm38) |
S409P |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,494,854 (GRCm38) |
Y99F |
possibly damaging |
Het |
| Rptn |
C |
A |
3: 93,395,042 (GRCm38) |
H22N |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,467,570 (GRCm38) |
|
probably benign |
Het |
| Sh2b1 |
GGACCAGCTCAG |
GGACCAGCTCAGTCACGGTGACCAGCTCAG |
7: 126,467,573 (GRCm38) |
|
probably null |
Het |
| Sh2b1 |
ACCAGCTCAGCCACGGGG |
ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG |
7: 126,467,575 (GRCm38) |
|
probably benign |
Het |
| Slc2a3 |
A |
C |
6: 122,736,610 (GRCm38) |
I214M |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,276,641 (GRCm38) |
N540K |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 97,062,523 (GRCm38) |
S664R |
possibly damaging |
Het |
| Tgm4 |
C |
A |
9: 123,052,772 (GRCm38) |
S344R |
probably damaging |
Het |
| Trim61 |
T |
A |
8: 65,014,576 (GRCm38) |
Q11L |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,832,652 (GRCm38) |
D1137E |
possibly damaging |
Het |
| Txndc2 |
G |
A |
17: 65,637,997 (GRCm38) |
T395I |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 37,995,778 (GRCm38) |
E15G |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,745,824 (GRCm38) |
I778T |
possibly damaging |
Het |
| Zfp383 |
T |
C |
7: 29,915,259 (GRCm38) |
F313S |
possibly damaging |
Het |
|
| Other mutations in Dmtf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02215:Dmtf1
|
APN |
5 |
9,136,070 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02323:Dmtf1
|
APN |
5 |
9,120,056 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL02652:Dmtf1
|
APN |
5 |
9,121,853 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02680:Dmtf1
|
APN |
5 |
9,130,381 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02732:Dmtf1
|
APN |
5 |
9,136,098 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL03002:Dmtf1
|
APN |
5 |
9,140,474 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03074:Dmtf1
|
APN |
5 |
9,124,435 (GRCm38) |
intron |
probably benign |
|
|
R0149:Dmtf1
|
UTSW |
5 |
9,132,571 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0466:Dmtf1
|
UTSW |
5 |
9,132,454 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0825:Dmtf1
|
UTSW |
5 |
9,130,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0973:Dmtf1
|
UTSW |
5 |
9,127,987 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R0973:Dmtf1
|
UTSW |
5 |
9,127,987 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R0974:Dmtf1
|
UTSW |
5 |
9,127,987 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R1068:Dmtf1
|
UTSW |
5 |
9,136,109 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1293:Dmtf1
|
UTSW |
5 |
9,140,383 (GRCm38) |
splice site |
probably null |
|
|
R1478:Dmtf1
|
UTSW |
5 |
9,121,404 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1515:Dmtf1
|
UTSW |
5 |
9,140,384 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1861:Dmtf1
|
UTSW |
5 |
9,120,347 (GRCm38) |
splice site |
probably null |
|
|
R1898:Dmtf1
|
UTSW |
5 |
9,128,091 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1970:Dmtf1
|
UTSW |
5 |
9,148,989 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1971:Dmtf1
|
UTSW |
5 |
9,148,989 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2519:Dmtf1
|
UTSW |
5 |
9,129,323 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R3053:Dmtf1
|
UTSW |
5 |
9,129,316 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3195:Dmtf1
|
UTSW |
5 |
9,132,454 (GRCm38) |
intron |
probably benign |
|
|
R4467:Dmtf1
|
UTSW |
5 |
9,136,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4490:Dmtf1
|
UTSW |
5 |
9,140,379 (GRCm38) |
intron |
probably benign |
|
|
R4491:Dmtf1
|
UTSW |
5 |
9,140,379 (GRCm38) |
intron |
probably benign |
|
|
R5007:Dmtf1
|
UTSW |
5 |
9,122,439 (GRCm38) |
unclassified |
probably benign |
|
|
R5173:Dmtf1
|
UTSW |
5 |
9,140,356 (GRCm38) |
intron |
probably benign |
|
|
R5184:Dmtf1
|
UTSW |
5 |
9,126,641 (GRCm38) |
missense |
probably benign |
0.36 |
|
R5646:Dmtf1
|
UTSW |
5 |
9,124,515 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R5958:Dmtf1
|
UTSW |
5 |
9,122,415 (GRCm38) |
unclassified |
probably benign |
|
|
R5977:Dmtf1
|
UTSW |
5 |
9,140,451 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6184:Dmtf1
|
UTSW |
5 |
9,126,656 (GRCm38) |
missense |
probably benign |
|
|
R6887:Dmtf1
|
UTSW |
5 |
9,137,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6921:Dmtf1
|
UTSW |
5 |
9,130,654 (GRCm38) |
intron |
probably benign |
|
|
R7242:Dmtf1
|
UTSW |
5 |
9,149,016 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7706:Dmtf1
|
UTSW |
5 |
9,124,489 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7721:Dmtf1
|
UTSW |
5 |
9,126,564 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7739:Dmtf1
|
UTSW |
5 |
9,140,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7742:Dmtf1
|
UTSW |
5 |
9,122,457 (GRCm38) |
unclassified |
probably benign |
|
|
R7859:Dmtf1
|
UTSW |
5 |
9,128,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7883:Dmtf1
|
UTSW |
5 |
9,140,397 (GRCm38) |
missense |
probably benign |
0.35 |
|
R7975:Dmtf1
|
UTSW |
5 |
9,129,169 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8269:Dmtf1
|
UTSW |
5 |
9,132,500 (GRCm38) |
nonsense |
probably null |
|
|
R8479:Dmtf1
|
UTSW |
5 |
9,120,428 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8782:Dmtf1
|
UTSW |
5 |
9,129,168 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9296:Dmtf1
|
UTSW |
5 |
9,140,467 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9359:Dmtf1
|
UTSW |
5 |
9,121,927 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R9372:Dmtf1
|
UTSW |
5 |
9,140,399 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACAGGCAGCATGAAATATTC -3'
(R):5'- TCAGATGGTTGGAGACAGTTTAC -3'
Sequencing Primer
(F):5'- GGCAGCATGAAATATTCTTGATACCC -3'
(R):5'- AGTGCAGTTGCTAGCTAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation