Incidental Mutation 'R0825:Dmtf1'
| ID |
78173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmtf1
|
| Ensembl Gene |
ENSMUSG00000042508 |
| Gene Name |
cyclin D binding myb like transcription factor 1 |
| Synonyms |
Dmp1 |
| MMRRC Submission |
039005-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.542)
|
| Stock # |
R0825 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9180388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 226
(M226K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139231
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000183448]
[ENSMUST00000183525]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184159]
[ENSMUST00000184401]
[ENSMUST00000184888]
[ENSMUST00000196029]
[ENSMUST00000184620]
[ENSMUST00000184372]
|
| AlphaFold |
Q8CE22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071921
AA Change: M267K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: M267K
| 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: M267K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: M267K
| 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: ENSMUST00000183448
|
| SMART Domains |
Protein: ENSMUSP00000139042
Gene: ENSMUSG00000042508
| 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 damaging
Transcript: ENSMUST00000183973
AA Change: M179K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: M179K
| 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 damaging
Transcript: ENSMUST00000184159
AA Change: M226K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139231
Gene: ENSMUSG00000042508
AA Change: M226K
| 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 |
noncoding transcript
Transcript: ENSMUST00000184903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184947
|
| 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: 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: ENSMUST00000184370
|
| 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: ENSMUST00000184372
|
| SMART Domains |
Protein: ENSMUSP00000139191
Gene: ENSMUSG00000042508
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
7e-49 |
BLAST |
|
| Meta Mutation Damage Score |
0.8606 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.4%
|
| Validation Efficiency |
98% (46/47) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,619,551 (GRCm39) |
I963N |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,288,068 (GRCm39) |
D727G |
possibly damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,334,014 (GRCm39) |
I590N |
probably damaging |
Het |
| Arid1b |
T |
G |
17: 5,392,453 (GRCm39) |
C1994W |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,777,825 (GRCm39) |
I2628T |
probably benign |
Het |
| Clspn |
G |
A |
4: 126,466,923 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,341 (GRCm39) |
T375S |
probably benign |
Het |
| Erap1 |
T |
C |
13: 74,822,733 (GRCm39) |
|
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,285,394 (GRCm39) |
D1405G |
possibly damaging |
Het |
| Gfm2 |
A |
T |
13: 97,279,612 (GRCm39) |
|
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,428,776 (GRCm39) |
V267A |
probably damaging |
Het |
| Golga2 |
A |
C |
2: 32,194,803 (GRCm39) |
Q650P |
probably damaging |
Het |
| Hmgcl |
A |
G |
4: 135,687,381 (GRCm39) |
T219A |
probably benign |
Het |
| Ift27 |
C |
A |
15: 78,049,336 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,890,864 (GRCm39) |
E2379K |
probably damaging |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kpnb1 |
A |
T |
11: 97,062,501 (GRCm39) |
S421R |
probably damaging |
Het |
| Minar1 |
G |
A |
9: 89,485,332 (GRCm39) |
Q22* |
probably null |
Het |
| Mtx3 |
C |
A |
13: 92,986,849 (GRCm39) |
T264K |
probably damaging |
Het |
| Nrg3 |
G |
A |
14: 39,194,348 (GRCm39) |
P137L |
possibly damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,887,344 (GRCm39) |
|
probably benign |
Het |
| Or2y1e |
T |
A |
11: 49,218,509 (GRCm39) |
H90Q |
probably benign |
Het |
| Or5ac17 |
G |
T |
16: 59,036,813 (GRCm39) |
H54Q |
possibly damaging |
Het |
| Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
| Pdcd5 |
G |
A |
7: 35,346,338 (GRCm39) |
R91W |
possibly damaging |
Het |
| Pxdn |
G |
A |
12: 30,034,995 (GRCm39) |
|
probably benign |
Het |
| Rgl2 |
T |
A |
17: 34,154,133 (GRCm39) |
|
probably null |
Het |
| Rnf217 |
T |
C |
10: 31,393,453 (GRCm39) |
D376G |
probably damaging |
Het |
| Septin9 |
C |
T |
11: 117,250,286 (GRCm39) |
L519F |
probably damaging |
Het |
| Slc15a5 |
C |
T |
6: 137,995,087 (GRCm39) |
C386Y |
possibly damaging |
Het |
| Srrm4 |
T |
A |
5: 116,591,772 (GRCm39) |
I256F |
unknown |
Het |
| Stab1 |
G |
T |
14: 30,874,557 (GRCm39) |
D950E |
probably benign |
Het |
| Stim2 |
A |
G |
5: 54,275,825 (GRCm39) |
T667A |
probably benign |
Het |
| Strbp |
A |
T |
2: 37,525,539 (GRCm39) |
N144K |
probably benign |
Het |
| Sync |
A |
G |
4: 129,187,190 (GRCm39) |
Y74C |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,195,380 (GRCm39) |
M587K |
possibly damaging |
Het |
| Tgfbi |
T |
C |
13: 56,786,523 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,152,956 (GRCm39) |
N372K |
probably benign |
Het |
| Ubr4 |
G |
T |
4: 139,206,887 (GRCm39) |
|
probably null |
Het |
| Uggt1 |
A |
T |
1: 36,197,224 (GRCm39) |
N1226K |
probably benign |
Het |
| Ugt2b34 |
T |
C |
5: 87,054,560 (GRCm39) |
I74V |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,017,917 (GRCm39) |
L2541P |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,675,840 (GRCm39) |
F2297V |
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 |
|
|
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 |
|
R8269:Dmtf1
|
UTSW |
5 |
9,182,500 (GRCm39) |
nonsense |
probably null |
|
|
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'- AGGCTGGACATTCATCTTCAGCAC -3'
(R):5'- GGCTCTCAAAAGTATTGCTGCCCAC -3'
Sequencing Primer
(F):5'- TGTGCAGACCTGTCAGAATACTG -3'
(R):5'- AAGTATTGCTGCCCACAACTTG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation