Incidental Mutation 'R7242:Dmtf1'
| ID |
563276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmtf1
|
| Ensembl Gene |
ENSMUSG00000042508 |
| Gene Name |
cyclin D binding myb like transcription factor 1 |
| Synonyms |
Dmp1 |
| MMRRC Submission |
045349-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.599)
|
| Stock # |
R7242 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9199016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 39
(D39V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000183448]
[ENSMUST00000183525]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184159]
[ENSMUST00000184372]
[ENSMUST00000184401]
[ENSMUST00000184620]
[ENSMUST00000184888]
[ENSMUST00000185100]
[ENSMUST00000196029]
|
| AlphaFold |
Q8CE22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071921
AA Change: D39V
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: D39V
| 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: D39V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: D39V
| 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 |
possibly damaging
Transcript: ENSMUST00000183448
AA Change: D39V
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139042
Gene: ENSMUSG00000042508
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183525
AA Change: D39V
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139339
Gene: ENSMUSG00000042508
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
191 |
2e-20 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183973
|
| SMART Domains |
Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
| 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 |
possibly damaging
Transcript: ENSMUST00000184120
AA Change: D39V
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138861
Gene: ENSMUSG00000042508
AA Change: D39V
| 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 |
possibly damaging
Transcript: ENSMUST00000184372
AA Change: D39V
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139191
Gene: ENSMUSG00000042508
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
7e-49 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184401
AA Change: D39V
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139281
Gene: ENSMUSG00000042508
AA Change: D39V
| 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 |
possibly damaging
Transcript: ENSMUST00000184888
AA Change: D39V
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139164
Gene: ENSMUSG00000042508
AA Change: D39V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185100
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196029
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (73/73) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
| Abca6 |
A |
T |
11: 110,132,479 (GRCm39) |
V272D |
possibly damaging |
Het |
| Acot11 |
A |
T |
4: 106,619,690 (GRCm39) |
S163R |
probably benign |
Het |
| Adcy5 |
T |
C |
16: 34,977,205 (GRCm39) |
L246P |
probably damaging |
Het |
| Adgra1 |
A |
T |
7: 139,427,573 (GRCm39) |
|
probably null |
Het |
| Adgra2 |
A |
G |
8: 27,612,055 (GRCm39) |
T1335A |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,908,062 (GRCm39) |
Y354F |
probably damaging |
Het |
| Armt1 |
T |
C |
10: 4,403,475 (GRCm39) |
S187P |
probably damaging |
Het |
| Azin1 |
T |
C |
15: 38,501,749 (GRCm39) |
M1V |
probably null |
Het |
| B430305J03Rik |
C |
T |
3: 61,271,256 (GRCm39) |
C163Y |
unknown |
Het |
| Cables1 |
T |
C |
18: 11,973,064 (GRCm39) |
S68P |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,663 (GRCm39) |
F341L |
probably benign |
Het |
| Ccdc90b |
T |
A |
7: 92,221,776 (GRCm39) |
H118Q |
probably damaging |
Het |
| Ccn5 |
T |
C |
2: 163,670,772 (GRCm39) |
F93S |
probably benign |
Het |
| Celf1 |
T |
A |
2: 90,833,602 (GRCm39) |
C119* |
probably null |
Het |
| Cfap57 |
C |
T |
4: 118,450,293 (GRCm39) |
V610M |
possibly damaging |
Het |
| Chrm4 |
T |
A |
2: 91,757,595 (GRCm39) |
M1K |
probably null |
Het |
| Chrnd |
C |
T |
1: 87,125,201 (GRCm39) |
T418I |
probably damaging |
Het |
| Coch |
G |
T |
12: 51,640,344 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,112,118 (GRCm39) |
T345A |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,161,842 (GRCm39) |
T96A |
probably benign |
Het |
| Corin |
T |
C |
5: 72,462,398 (GRCm39) |
I945V |
probably benign |
Het |
| Cyp2c67 |
G |
T |
19: 39,605,783 (GRCm39) |
T371N |
probably benign |
Het |
| Dap |
T |
A |
15: 31,273,454 (GRCm39) |
*103R |
probably null |
Het |
| Defb35 |
T |
A |
8: 22,430,773 (GRCm39) |
V49E |
unknown |
Het |
| Dmtn |
T |
C |
14: 70,855,460 (GRCm39) |
T10A |
probably damaging |
Het |
| Dnajc1 |
C |
T |
2: 18,298,783 (GRCm39) |
E264K |
probably benign |
Het |
| Dtx3l |
A |
T |
16: 35,753,771 (GRCm39) |
N278K |
possibly damaging |
Het |
| Fam161a |
T |
A |
11: 22,970,037 (GRCm39) |
S72T |
possibly damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,576,140 (GRCm39) |
S114T |
unknown |
Het |
| Focad |
T |
G |
4: 88,228,143 (GRCm39) |
I784S |
unknown |
Het |
| Fzd8 |
A |
T |
18: 9,214,171 (GRCm39) |
T418S |
probably damaging |
Het |
| Gclc |
A |
G |
9: 77,692,653 (GRCm39) |
Y264C |
probably benign |
Het |
| Ggn |
G |
A |
7: 28,872,459 (GRCm39) |
C649Y |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,089,092 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,526 (GRCm39) |
Y155C |
probably damaging |
Het |
| Htatip2 |
A |
G |
7: 49,422,354 (GRCm39) |
K191E |
probably benign |
Het |
| Ik |
A |
T |
18: 36,881,275 (GRCm39) |
S79C |
probably null |
Het |
| Kin |
G |
A |
2: 10,096,604 (GRCm39) |
R151Q |
probably benign |
Het |
| Kpna2rt |
G |
A |
17: 90,217,563 (GRCm39) |
T61I |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,874,986 (GRCm39) |
S1461P |
probably damaging |
Het |
| Melk |
T |
A |
4: 44,360,885 (GRCm39) |
V555E |
probably damaging |
Het |
| Met |
G |
A |
6: 17,491,316 (GRCm39) |
C26Y |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,748,633 (GRCm39) |
F77L |
probably damaging |
Het |
| Mib1 |
T |
A |
18: 10,741,011 (GRCm39) |
D86E |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Or12e8 |
G |
A |
2: 87,188,426 (GRCm39) |
V213I |
probably benign |
Het |
| Or56b1b |
T |
G |
7: 108,164,919 (GRCm39) |
S28R |
probably benign |
Het |
| Or7a36 |
A |
T |
10: 78,820,331 (GRCm39) |
K236* |
probably null |
Het |
| Or8g21 |
A |
G |
9: 38,906,437 (GRCm39) |
I98T |
probably benign |
Het |
| Patj |
A |
T |
4: 98,480,170 (GRCm39) |
I1296L |
probably benign |
Het |
| Pcdh1 |
C |
T |
18: 38,336,270 (GRCm39) |
V122M |
probably benign |
Het |
| Pcdhac2 |
A |
T |
18: 37,277,946 (GRCm39) |
I309F |
possibly damaging |
Het |
| Phf8-ps |
A |
G |
17: 33,286,101 (GRCm39) |
Y234H |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,906,012 (GRCm39) |
S565G |
probably damaging |
Het |
| Plekha2 |
A |
C |
8: 25,578,411 (GRCm39) |
F30V |
probably damaging |
Het |
| Ptbp1 |
A |
G |
10: 79,692,222 (GRCm39) |
M20V |
unknown |
Het |
| Pth2r |
A |
G |
1: 65,427,779 (GRCm39) |
D484G |
probably benign |
Het |
| Rapgef2 |
G |
A |
3: 78,995,210 (GRCm39) |
Q665* |
probably null |
Het |
| Scamp1 |
G |
A |
13: 94,369,648 (GRCm39) |
T59I |
probably benign |
Het |
| Sema4a |
T |
A |
3: 88,357,416 (GRCm39) |
D230V |
probably damaging |
Het |
| Snw1 |
C |
T |
12: 87,515,415 (GRCm39) |
G45R |
possibly damaging |
Het |
| Sox30 |
T |
A |
11: 45,875,347 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
A |
6: 48,450,886 (GRCm39) |
I2665K |
probably benign |
Het |
| Stx5a |
T |
A |
19: 8,732,641 (GRCm39) |
W437R |
unknown |
Het |
| Tln1 |
A |
G |
4: 43,542,602 (GRCm39) |
V1402A |
probably benign |
Het |
| Tpm1 |
A |
G |
9: 66,935,383 (GRCm39) |
L244P |
probably benign |
Het |
| Try5 |
T |
A |
6: 41,290,388 (GRCm39) |
E32V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,552,073 (GRCm39) |
N31188S |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,582,379 (GRCm39) |
|
probably null |
Het |
| Usp13 |
T |
G |
3: 32,919,892 (GRCm39) |
|
probably null |
Het |
| Vax2 |
A |
G |
6: 83,688,298 (GRCm39) |
E7G |
possibly damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,612 (GRCm39) |
Y139* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,631,155 (GRCm39) |
D21G |
probably benign |
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 |
|
|
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'- TCTAGAAATCCCAAATGACTCTTGC -3'
(R):5'- AAGGTCCACTTTTGCCCACC -3'
Sequencing Primer
(F):5'- TGACTCTTGCAAGCTAAAGTCC -3'
(R):5'- GCCCACCATAGTTCTTGTTATAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation