Incidental Mutation 'IGL02323:Dmtf1'
| ID |
288342 |
| 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: 0.599)
|
| Stock # |
IGL02323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9170056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 683
(D683E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000115365]
[ENSMUST00000183448]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000196029]
[ENSMUST00000184401]
[ENSMUST00000184620]
[ENSMUST00000184159]
[ENSMUST00000184888]
[ENSMUST00000198935]
|
| AlphaFold |
Q8CE22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071921
AA Change: D753E
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: D753E
| 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: D683E
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: D683E
| 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 |
noncoding transcript
Transcript: ENSMUST00000183347
|
| 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: D665E
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: D665E
| 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 |
noncoding transcript
Transcript: ENSMUST00000184903
|
| 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: 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: 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: 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: ENSMUST00000198935
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184370
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
A |
G |
5: 137,289,326 (GRCm39) |
E344G |
probably damaging |
Het |
| Actrt2 |
T |
C |
4: 154,751,255 (GRCm39) |
T294A |
probably benign |
Het |
| Afg1l |
C |
A |
10: 42,330,506 (GRCm39) |
E54* |
probably null |
Het |
| Ahi1 |
T |
C |
10: 20,847,933 (GRCm39) |
I447T |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,187,212 (GRCm39) |
I1542T |
probably benign |
Het |
| Ankrd34c |
A |
C |
9: 89,612,033 (GRCm39) |
S103A |
possibly damaging |
Het |
| Apc |
C |
T |
18: 34,448,863 (GRCm39) |
Q1886* |
probably null |
Het |
| Bcas3 |
A |
G |
11: 85,386,671 (GRCm39) |
T148A |
probably damaging |
Het |
| Bud13 |
A |
G |
9: 46,194,350 (GRCm39) |
T8A |
probably benign |
Het |
| Casr |
A |
T |
16: 36,330,072 (GRCm39) |
Y421N |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,597,600 (GRCm39) |
Y49C |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,697,794 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,619,082 (GRCm39) |
T686A |
probably benign |
Het |
| Cntln |
T |
A |
4: 84,968,026 (GRCm39) |
H748Q |
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,899,152 (GRCm39) |
K117R |
probably damaging |
Het |
| Eif2a |
T |
C |
3: 58,456,024 (GRCm39) |
M341T |
possibly damaging |
Het |
| Epg5 |
T |
A |
18: 78,056,047 (GRCm39) |
Y1740* |
probably null |
Het |
| Fam149b |
C |
T |
14: 20,413,369 (GRCm39) |
T157I |
possibly damaging |
Het |
| Fam89b |
A |
G |
19: 5,778,899 (GRCm39) |
|
probably null |
Het |
| Fbxo3 |
T |
A |
2: 103,878,296 (GRCm39) |
N232K |
probably benign |
Het |
| Gnl3 |
A |
C |
14: 30,739,359 (GRCm39) |
H16Q |
probably damaging |
Het |
| Gpld1 |
T |
G |
13: 25,166,757 (GRCm39) |
V669G |
probably damaging |
Het |
| Grik3 |
A |
G |
4: 125,579,783 (GRCm39) |
|
probably benign |
Het |
| Gzmg |
A |
C |
14: 56,394,729 (GRCm39) |
Y180D |
probably benign |
Het |
| H2-M9 |
A |
T |
17: 36,951,633 (GRCm39) |
Y281N |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,442,001 (GRCm39) |
S637T |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
| Mrs2 |
T |
A |
13: 25,188,940 (GRCm39) |
I125F |
probably damaging |
Het |
| Nfam1 |
T |
A |
15: 82,907,152 (GRCm39) |
N15I |
probably benign |
Het |
| Nol8 |
T |
A |
13: 49,808,721 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,899,348 (GRCm39) |
V6483A |
possibly damaging |
Het |
| Or2a56 |
A |
T |
6: 42,932,917 (GRCm39) |
I162F |
probably benign |
Het |
| Osbpl3 |
A |
G |
6: 50,323,306 (GRCm39) |
|
probably null |
Het |
| Plaat3 |
G |
A |
19: 7,552,357 (GRCm39) |
W24* |
probably null |
Het |
| Ppfibp2 |
A |
T |
7: 107,337,836 (GRCm39) |
Q652H |
probably damaging |
Het |
| Rbm47 |
A |
G |
5: 66,183,772 (GRCm39) |
V277A |
probably damaging |
Het |
| Robo3 |
G |
A |
9: 37,333,497 (GRCm39) |
A716V |
probably benign |
Het |
| Scart1 |
G |
T |
7: 139,808,572 (GRCm39) |
A828S |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,584,785 (GRCm39) |
L375* |
probably null |
Het |
| Slc29a4 |
A |
G |
5: 142,703,407 (GRCm39) |
E227G |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,199,413 (GRCm39) |
D656G |
possibly damaging |
Het |
| Sox1 |
A |
G |
8: 12,446,692 (GRCm39) |
H111R |
possibly damaging |
Het |
| Spmip9 |
A |
G |
6: 70,890,679 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
G |
A |
4: 58,070,236 (GRCm39) |
Q2517* |
probably null |
Het |
| Syndig1 |
G |
T |
2: 149,741,707 (GRCm39) |
V98L |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,911,183 (GRCm39) |
E154G |
probably benign |
Het |
| Tkt |
G |
A |
14: 30,292,992 (GRCm39) |
G490S |
possibly damaging |
Het |
| Tmem200a |
T |
C |
10: 25,869,328 (GRCm39) |
N314D |
probably benign |
Het |
| Tnfaip8l1 |
A |
T |
17: 56,479,009 (GRCm39) |
T100S |
probably damaging |
Het |
| Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
| Trim12c |
C |
T |
7: 103,997,473 (GRCm39) |
A28T |
probably benign |
Het |
| Trpc7 |
C |
A |
13: 56,931,564 (GRCm39) |
V595L |
possibly damaging |
Het |
| Ttc39c |
A |
G |
18: 12,869,800 (GRCm39) |
R575G |
probably null |
Het |
| Ttn |
T |
G |
2: 76,681,919 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,553,609 (GRCm39) |
V31003M |
probably damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,398,423 (GRCm39) |
|
probably benign |
Het |
| Uqcrb |
A |
T |
13: 67,050,874 (GRCm39) |
|
probably benign |
Het |
| Usp33 |
T |
A |
3: 152,076,024 (GRCm39) |
W415R |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,816,399 (GRCm39) |
D41E |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,113 (GRCm39) |
I204F |
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 |
|
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 |
|
|
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