Incidental Mutation 'IGL02732:Dmtf1'
| ID |
305484 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dmtf1
|
| Ensembl Gene |
ENSMUSG00000042508 |
| Gene Name |
cyclin D binding myb like transcription factor 1 |
| Synonyms |
Dmp1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.542)
|
| Stock # |
IGL02732
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9186098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 75
(I75V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000183448]
[ENSMUST00000183525]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184620]
[ENSMUST00000184401]
[ENSMUST00000184372]
[ENSMUST00000184888]
[ENSMUST00000184159]
[ENSMUST00000196029]
|
| AlphaFold |
Q8CE22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071921
AA Change: I163V
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: I163V
| 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: I163V
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: I163V
| 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: I163V
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139042
Gene: ENSMUSG00000042508
AA Change: I163V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183525
AA Change: I163V
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139339
Gene: ENSMUSG00000042508
AA Change: I163V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
191 |
2e-20 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183792
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183973
AA Change: I75V
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: I75V
| 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
AA Change: I163V
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138861
Gene: ENSMUSG00000042508
AA Change: I163V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
6e-48 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184620
AA Change: I122V
PolyPhen 2
Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138816
Gene: ENSMUSG00000042508
AA Change: I122V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
111 |
185 |
4e-48 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184401
AA Change: I163V
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139281
Gene: ENSMUSG00000042508
AA Change: I163V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184372
AA Change: I163V
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139191
Gene: ENSMUSG00000042508
AA Change: I163V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
7e-49 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184888
AA Change: I163V
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139164
Gene: ENSMUSG00000042508
AA Change: I163V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184159
AA Change: I122V
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000139231
Gene: ENSMUSG00000042508
AA Change: I122V
| 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
|
| Coding Region Coverage |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoo-ps |
C |
A |
13: 107,551,123 (GRCm39) |
|
noncoding transcript |
Het |
| Ash1l |
T |
A |
3: 88,873,535 (GRCm39) |
V106E |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,961,044 (GRCm39) |
T1618A |
possibly damaging |
Het |
| Brca1 |
A |
G |
11: 101,383,045 (GRCm39) |
S1732P |
probably benign |
Het |
| Cdh1 |
T |
A |
8: 107,392,955 (GRCm39) |
I813N |
probably damaging |
Het |
| Cdk5rap2 |
G |
A |
4: 70,184,902 (GRCm39) |
R1183* |
probably null |
Het |
| Cep170 |
C |
T |
1: 176,564,440 (GRCm39) |
E1479K |
probably damaging |
Het |
| Cep68 |
A |
T |
11: 20,186,109 (GRCm39) |
|
probably benign |
Het |
| Cog7 |
C |
T |
7: 121,522,590 (GRCm39) |
V750I |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,209,375 (GRCm39) |
T271A |
probably benign |
Het |
| Cyb5d1 |
A |
C |
11: 69,284,635 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
A |
G |
2: 156,591,243 (GRCm39) |
K120E |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,373,004 (GRCm39) |
T995A |
probably damaging |
Het |
| Hecw2 |
G |
A |
1: 53,965,847 (GRCm39) |
|
probably benign |
Het |
| Il17rd |
T |
A |
14: 26,809,376 (GRCm39) |
F111I |
probably damaging |
Het |
| Itgb8 |
A |
C |
12: 119,127,088 (GRCm39) |
M722R |
probably benign |
Het |
| Maip1 |
A |
G |
1: 57,449,114 (GRCm39) |
D165G |
probably damaging |
Het |
| Mcm6 |
A |
T |
1: 128,287,227 (GRCm39) |
C26S |
probably benign |
Het |
| Mdp1 |
T |
C |
14: 55,896,678 (GRCm39) |
I128V |
possibly damaging |
Het |
| Myof |
A |
T |
19: 37,966,164 (GRCm39) |
F385L |
possibly damaging |
Het |
| Nebl |
C |
T |
2: 17,457,295 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
A |
G |
2: 119,466,061 (GRCm39) |
E227G |
probably damaging |
Het |
| Or4b13 |
A |
G |
2: 90,082,652 (GRCm39) |
S227P |
probably damaging |
Het |
| Or51m1 |
T |
G |
7: 103,578,336 (GRCm39) |
M102R |
probably damaging |
Het |
| Or52e3 |
A |
C |
7: 102,869,447 (GRCm39) |
N174T |
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,472,486 (GRCm39) |
H595L |
probably benign |
Het |
| Pate5 |
C |
T |
9: 35,750,345 (GRCm39) |
G109D |
probably damaging |
Het |
| Pdgfc |
G |
A |
3: 80,944,864 (GRCm39) |
|
probably benign |
Het |
| Pierce1 |
T |
C |
2: 28,355,192 (GRCm39) |
N91S |
probably damaging |
Het |
| Ptpn22 |
A |
T |
3: 103,793,349 (GRCm39) |
E500V |
probably damaging |
Het |
| Ptprg |
G |
T |
14: 12,225,617 (GRCm38) |
|
probably null |
Het |
| R3hdm2 |
T |
C |
10: 127,319,929 (GRCm39) |
F513L |
probably benign |
Het |
| Ramac |
T |
C |
7: 81,417,473 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
C |
A |
13: 76,059,056 (GRCm39) |
L247F |
probably damaging |
Het |
| Scfd1 |
T |
C |
12: 51,469,756 (GRCm39) |
S434P |
probably benign |
Het |
| Serpinb3d |
T |
A |
1: 107,010,526 (GRCm39) |
|
probably null |
Het |
| Sin3b |
T |
C |
8: 73,460,081 (GRCm39) |
F223L |
possibly damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,370,548 (GRCm39) |
V263A |
possibly damaging |
Het |
| Sntb1 |
A |
G |
15: 55,655,596 (GRCm39) |
S207P |
possibly damaging |
Het |
| Sqor |
A |
T |
2: 122,641,682 (GRCm39) |
T1S |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,328,602 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
A |
G |
13: 3,623,626 (GRCm39) |
V2108A |
probably benign |
Het |
| Tmod2 |
A |
G |
9: 75,493,454 (GRCm39) |
V167A |
possibly damaging |
Het |
| Trak2 |
G |
A |
1: 58,949,222 (GRCm39) |
T526M |
probably benign |
Het |
| Trdn |
G |
A |
10: 33,344,195 (GRCm39) |
|
probably null |
Het |
| Trim5 |
T |
A |
7: 103,927,672 (GRCm39) |
E156V |
probably benign |
Het |
| Twf1 |
A |
G |
15: 94,478,890 (GRCm39) |
S273P |
probably damaging |
Het |
| Xylt1 |
T |
C |
7: 117,191,164 (GRCm39) |
V320A |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation