Incidental Mutation 'R2519:Dmtf1'
| ID |
254172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmtf1
|
| Ensembl Gene |
ENSMUSG00000042508 |
| Gene Name |
cyclin D binding myb like transcription factor 1 |
| Synonyms |
Dmp1 |
| MMRRC Submission |
040423-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.599)
|
| Stock # |
R2519 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9179323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 292
(T292A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000183448]
[ENSMUST00000183525]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184159]
[ENSMUST00000196029]
[ENSMUST00000184401]
[ENSMUST00000184372]
[ENSMUST00000184620]
[ENSMUST00000184888]
|
| AlphaFold |
Q8CE22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071921
AA Change: T292A
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: T292A
| 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 |
possibly damaging
Transcript: ENSMUST00000095017
AA Change: T292A
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: T292A
| 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 |
possibly damaging
Transcript: ENSMUST00000183973
AA Change: T204A
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: T204A
| 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 |
possibly damaging
Transcript: ENSMUST00000184159
AA Change: T251A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139231
Gene: ENSMUSG00000042508
AA Change: T251A
| 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: ENSMUST00000196029
|
| 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: ENSMUST00000184372
|
| SMART Domains |
Protein: ENSMUSP00000139191
Gene: ENSMUSG00000042508
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
7e-49 |
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: ENSMUST00000184370
|
| Meta Mutation Damage Score |
0.0940 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
99% (72/73) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933408J17Rik |
G |
A |
10: 93,425,450 (GRCm39) |
|
probably benign |
Het |
| Abtb3 |
T |
A |
10: 85,487,475 (GRCm39) |
V981D |
probably damaging |
Het |
| Actn1 |
A |
T |
12: 80,239,163 (GRCm39) |
H247Q |
probably damaging |
Het |
| Adgre1 |
T |
C |
17: 57,717,956 (GRCm39) |
C323R |
probably damaging |
Het |
| Adgrf2 |
T |
A |
17: 43,021,298 (GRCm39) |
I509F |
probably damaging |
Het |
| Aknad1 |
A |
T |
3: 108,663,784 (GRCm39) |
T331S |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,072,047 (GRCm39) |
D39G |
probably benign |
Het |
| Alms1 |
C |
A |
6: 85,644,945 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
T |
G |
18: 36,711,596 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
T |
C |
2: 166,723,164 (GRCm39) |
S1535P |
probably benign |
Het |
| Bicc1 |
T |
C |
10: 70,766,474 (GRCm39) |
E916G |
probably damaging |
Het |
| Birc2 |
A |
T |
9: 7,821,180 (GRCm39) |
D381E |
possibly damaging |
Het |
| Carnmt1 |
A |
G |
19: 18,671,075 (GRCm39) |
I316V |
probably benign |
Het |
| Cdk2ap1rt |
A |
G |
11: 48,716,950 (GRCm39) |
I76T |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,871,796 (GRCm39) |
Y213F |
possibly damaging |
Het |
| Coq7 |
A |
T |
7: 118,109,371 (GRCm39) |
W226R |
unknown |
Het |
| Cyp2d9 |
G |
A |
15: 82,338,719 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
T |
A |
11: 106,136,155 (GRCm39) |
N635K |
probably damaging |
Het |
| Dnajb8 |
T |
C |
6: 88,199,857 (GRCm39) |
V131A |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,727,629 (GRCm39) |
E1367G |
possibly damaging |
Het |
| Dvl1 |
T |
A |
4: 155,940,000 (GRCm39) |
Y377* |
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,824,629 (GRCm39) |
F278Y |
probably benign |
Het |
| Fancg |
A |
T |
4: 43,008,787 (GRCm39) |
L150H |
probably damaging |
Het |
| Fastkd5 |
T |
C |
2: 130,458,114 (GRCm39) |
T159A |
possibly damaging |
Het |
| Fkrp |
G |
T |
7: 16,544,877 (GRCm39) |
Y328* |
probably null |
Het |
| Fmo3 |
A |
T |
1: 162,785,874 (GRCm39) |
V372D |
probably damaging |
Het |
| Gsta5 |
T |
G |
9: 78,211,721 (GRCm39) |
L161R |
probably damaging |
Het |
| Gtf2h4 |
C |
A |
17: 35,981,801 (GRCm39) |
G143W |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,649,571 (GRCm39) |
Y638* |
probably null |
Het |
| Ighv11-2 |
T |
A |
12: 114,011,912 (GRCm39) |
Q101L |
probably damaging |
Het |
| Lgalsl2 |
A |
T |
7: 5,362,833 (GRCm39) |
I155F |
probably damaging |
Het |
| Lipf |
G |
T |
19: 33,942,925 (GRCm39) |
V78L |
probably damaging |
Het |
| Magi3 |
T |
C |
3: 103,923,081 (GRCm39) |
E1212G |
probably benign |
Het |
| Mfap5 |
T |
C |
6: 122,502,948 (GRCm39) |
S75P |
probably damaging |
Het |
| Mn1 |
C |
A |
5: 111,566,418 (GRCm39) |
H129Q |
possibly damaging |
Het |
| Morc3 |
A |
G |
16: 93,659,427 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Myo5c |
A |
G |
9: 75,157,718 (GRCm39) |
I224V |
probably damaging |
Het |
| Nup58 |
T |
C |
14: 60,460,808 (GRCm39) |
T486A |
probably benign |
Het |
| Or5m13b |
A |
G |
2: 85,753,951 (GRCm39) |
Y113C |
probably damaging |
Het |
| Or8b46 |
T |
A |
9: 38,450,281 (GRCm39) |
V30D |
probably damaging |
Het |
| Parp14 |
A |
T |
16: 35,678,573 (GRCm39) |
L465Q |
possibly damaging |
Het |
| Pcare |
C |
T |
17: 72,058,642 (GRCm39) |
S345N |
probably damaging |
Het |
| Plcd3 |
A |
T |
11: 102,971,226 (GRCm39) |
I110N |
possibly damaging |
Het |
| Prx |
A |
G |
7: 27,217,668 (GRCm39) |
E862G |
probably benign |
Het |
| Rad50 |
G |
A |
11: 53,598,012 (GRCm39) |
|
probably benign |
Het |
| Rbm15 |
A |
G |
3: 107,238,149 (GRCm39) |
S750P |
probably benign |
Het |
| Reln |
C |
A |
5: 22,549,367 (GRCm39) |
A14S |
unknown |
Het |
| Rph3a |
T |
C |
5: 121,092,485 (GRCm39) |
Y372C |
probably damaging |
Het |
| Serpine2 |
T |
A |
1: 79,777,256 (GRCm39) |
H187L |
possibly damaging |
Het |
| Slc11a2 |
T |
C |
15: 100,299,204 (GRCm39) |
D122G |
probably damaging |
Het |
| Slc25a32 |
A |
T |
15: 38,959,450 (GRCm39) |
V289E |
probably damaging |
Het |
| Slc25a46 |
A |
T |
18: 31,735,814 (GRCm39) |
S142T |
probably benign |
Het |
| Srm |
A |
G |
4: 148,675,961 (GRCm39) |
|
probably null |
Het |
| Srsf5 |
A |
G |
12: 80,995,870 (GRCm39) |
D123G |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,876,829 (GRCm39) |
C832S |
probably damaging |
Het |
| Stab2 |
A |
C |
10: 86,770,704 (GRCm39) |
|
probably benign |
Het |
| Suds3 |
T |
C |
5: 117,233,018 (GRCm39) |
N282S |
probably damaging |
Het |
| Taar9 |
A |
T |
10: 23,985,152 (GRCm39) |
V94E |
probably damaging |
Het |
| Taf2 |
C |
A |
15: 54,915,643 (GRCm39) |
A428S |
probably benign |
Het |
| Tbk1 |
G |
T |
10: 121,393,164 (GRCm39) |
T462K |
probably benign |
Het |
| Tcaf2 |
T |
G |
6: 42,606,365 (GRCm39) |
I530L |
possibly damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,221 (GRCm39) |
Y46C |
probably damaging |
Het |
| Topors |
G |
T |
4: 40,261,714 (GRCm39) |
Y523* |
probably null |
Het |
| Tpte |
T |
C |
8: 22,823,176 (GRCm39) |
|
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,651,284 (GRCm39) |
Q254L |
probably damaging |
Het |
| Trpv6 |
G |
A |
6: 41,601,550 (GRCm39) |
Q457* |
probably null |
Het |
| Ush2a |
A |
T |
1: 187,999,304 (GRCm39) |
M205L |
probably benign |
Het |
| Vmn1r90 |
A |
T |
7: 14,295,643 (GRCm39) |
Y152N |
probably damaging |
Het |
| Vmn2r124 |
T |
A |
17: 18,294,280 (GRCm39) |
V789D |
probably damaging |
Het |
| Vmn2r99 |
T |
C |
17: 19,598,970 (GRCm39) |
I218T |
probably damaging |
Het |
| Vstm2b |
T |
C |
7: 40,552,299 (GRCm39) |
V248A |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,224,505 (GRCm39) |
K1019E |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp229 |
T |
A |
17: 21,964,568 (GRCm39) |
F266Y |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,975,094 (GRCm39) |
C454* |
probably null |
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 |
|
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'- GCTTTCGTGGCCAAAGATATGG -3'
(R):5'- AGCCAGTGCATTCTAATTCTTGTG -3'
Sequencing Primer
(F):5'- CTTTCGTGGCCAAAGATATGGGATAC -3'
(R):5'- CAGTGCATTCTAATTCTTGTGAGTAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation