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 |