Incidental Mutation 'R1898:Dmtf1'
ID |
212110 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dmtf1
|
Ensembl Gene |
ENSMUSG00000042508 |
Gene Name |
cyclin D binding myb like transcription factor 1 |
Synonyms |
Dmp1 |
MMRRC Submission |
039918-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.542)
|
Stock # |
R1898 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 9178091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 315
(V315E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139231
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000183448]
[ENSMUST00000183525]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184159]
[ENSMUST00000184401]
[ENSMUST00000196029]
[ENSMUST00000184620]
[ENSMUST00000184372]
[ENSMUST00000184888]
|
AlphaFold |
Q8CE22 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071921
AA Change: V356E
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000071815 Gene: ENSMUSG00000042508 AA Change: V356E
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: V356E
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000092627 Gene: ENSMUSG00000042508 AA Change: V356E
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: V268E
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139361 Gene: ENSMUSG00000042508 AA Change: V268E
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 |
probably damaging
Transcript: ENSMUST00000184159
AA Change: V315E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139231 Gene: ENSMUSG00000042508 AA Change: V315E
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: ENSMUST00000184947
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184903
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184370
|
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: ENSMUST00000196029
|
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: 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: ENSMUST00000184888
|
SMART Domains |
Protein: ENSMUSP00000139164 Gene: ENSMUSG00000042508
Domain | Start | End | E-Value | Type |
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.9%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
C |
A |
4: 53,071,977 (GRCm39) |
R1195L |
probably benign |
Het |
Abca14 |
A |
G |
7: 119,850,392 (GRCm39) |
Y748C |
probably damaging |
Het |
Abca6 |
A |
G |
11: 110,099,625 (GRCm39) |
F974S |
probably damaging |
Het |
Acyp1 |
T |
C |
12: 85,335,114 (GRCm39) |
K2E |
probably benign |
Het |
Ahcy |
T |
A |
2: 154,904,173 (GRCm39) |
S355C |
probably benign |
Het |
AI182371 |
A |
G |
2: 34,990,661 (GRCm39) |
V12A |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,525,683 (GRCm39) |
I215T |
probably benign |
Het |
Aox1 |
C |
T |
1: 58,117,601 (GRCm39) |
R828C |
probably damaging |
Het |
Atp1a4 |
T |
A |
1: 172,062,615 (GRCm39) |
I631F |
probably damaging |
Het |
Brd10 |
T |
C |
19: 29,712,532 (GRCm39) |
N789S |
possibly damaging |
Het |
Brinp3 |
T |
G |
1: 146,776,987 (GRCm39) |
V478G |
possibly damaging |
Het |
Cadm2 |
G |
A |
16: 66,612,271 (GRCm39) |
S106L |
probably damaging |
Het |
Celf2 |
C |
T |
2: 6,608,975 (GRCm39) |
V95M |
probably damaging |
Het |
Chka |
A |
T |
19: 3,942,205 (GRCm39) |
E404D |
probably damaging |
Het |
Clec5a |
A |
C |
6: 40,558,870 (GRCm39) |
V72G |
probably benign |
Het |
Cnn1 |
T |
C |
9: 22,012,560 (GRCm39) |
|
probably null |
Het |
Coq6 |
A |
G |
12: 84,413,737 (GRCm39) |
E89G |
probably benign |
Het |
Cpne6 |
A |
T |
14: 55,754,485 (GRCm39) |
I538F |
possibly damaging |
Het |
Crx |
G |
A |
7: 15,602,148 (GRCm39) |
P177S |
probably damaging |
Het |
Cysltr2 |
G |
T |
14: 73,266,973 (GRCm39) |
P246T |
probably damaging |
Het |
Decr1 |
A |
G |
4: 15,929,801 (GRCm39) |
I164T |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,275,874 (GRCm39) |
N2587S |
probably benign |
Het |
E2f6 |
C |
A |
12: 16,874,581 (GRCm39) |
T221K |
probably benign |
Het |
Fat3 |
T |
G |
9: 15,871,426 (GRCm39) |
D3655A |
probably damaging |
Het |
Fbxw28 |
G |
A |
9: 109,152,452 (GRCm39) |
T384I |
probably benign |
Het |
Fes |
T |
A |
7: 80,029,659 (GRCm39) |
I608F |
probably damaging |
Het |
Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
Gabrb2 |
A |
G |
11: 42,484,659 (GRCm39) |
K239E |
possibly damaging |
Het |
Gen1 |
T |
C |
12: 11,291,609 (GRCm39) |
R727G |
probably benign |
Het |
Glb1 |
T |
A |
9: 114,253,103 (GRCm39) |
V184E |
probably damaging |
Het |
Gngt1 |
A |
T |
6: 3,996,724 (GRCm39) |
I57F |
possibly damaging |
Het |
Ice1 |
T |
C |
13: 70,750,426 (GRCm39) |
I87V |
possibly damaging |
Het |
Itih1 |
A |
G |
14: 30,654,244 (GRCm39) |
Y674H |
probably benign |
Het |
Itsn1 |
T |
A |
16: 91,696,468 (GRCm39) |
C24S |
probably damaging |
Het |
Loxl1 |
A |
G |
9: 58,204,961 (GRCm39) |
V418A |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,662,732 (GRCm39) |
N595S |
probably damaging |
Het |
Myo5c |
C |
T |
9: 75,204,908 (GRCm39) |
T1587I |
probably damaging |
Het |
Npat |
T |
A |
9: 53,474,937 (GRCm39) |
F910I |
probably damaging |
Het |
Nradd |
T |
C |
9: 110,450,676 (GRCm39) |
Y167C |
probably damaging |
Het |
Nt5dc1 |
T |
C |
10: 34,189,631 (GRCm39) |
E352G |
probably benign |
Het |
Numa1 |
T |
C |
7: 101,641,927 (GRCm39) |
|
probably null |
Het |
Odc1 |
T |
A |
12: 17,598,842 (GRCm39) |
S241T |
probably damaging |
Het |
Or11g2 |
A |
T |
14: 50,856,231 (GRCm39) |
D184V |
probably damaging |
Het |
Or14j7 |
A |
T |
17: 38,234,516 (GRCm39) |
N20Y |
possibly damaging |
Het |
Pcnx3 |
T |
C |
19: 5,722,615 (GRCm39) |
D951G |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,484,408 (GRCm39) |
F685L |
probably benign |
Het |
Pnpla7 |
T |
A |
2: 24,943,796 (GRCm39) |
|
probably benign |
Het |
Pramel16 |
C |
T |
4: 143,677,298 (GRCm39) |
V94M |
probably damaging |
Het |
Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
Rp1l1 |
A |
T |
14: 64,269,039 (GRCm39) |
T1542S |
probably benign |
Het |
Sct |
A |
T |
7: 140,858,761 (GRCm39) |
L57Q |
probably damaging |
Het |
Serpinb3b |
T |
C |
1: 107,082,317 (GRCm39) |
S316G |
possibly damaging |
Het |
Shprh |
T |
C |
10: 11,062,613 (GRCm39) |
L1240S |
probably damaging |
Het |
Slc4a1 |
C |
T |
11: 102,241,133 (GRCm39) |
E924K |
probably damaging |
Het |
Sp7 |
A |
T |
15: 102,267,453 (GRCm39) |
Y118N |
possibly damaging |
Het |
Srebf2 |
A |
G |
15: 82,087,936 (GRCm39) |
T219A |
probably damaging |
Het |
Tenm3 |
G |
T |
8: 48,763,796 (GRCm39) |
P753T |
probably damaging |
Het |
Tonsl |
A |
T |
15: 76,523,053 (GRCm39) |
|
probably null |
Het |
Trio |
A |
T |
15: 27,742,466 (GRCm39) |
S2675T |
possibly damaging |
Het |
Tspan12 |
T |
C |
6: 21,795,693 (GRCm39) |
T166A |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,736,641 (GRCm39) |
D1122G |
probably benign |
Het |
Vmn1r77 |
G |
A |
7: 11,775,550 (GRCm39) |
A41T |
probably damaging |
Het |
Xpo7 |
A |
T |
14: 70,933,064 (GRCm39) |
F276Y |
probably benign |
Het |
Zdhhc1 |
A |
T |
8: 106,205,378 (GRCm39) |
|
probably null |
Het |
Zfp319 |
C |
A |
8: 96,055,417 (GRCm39) |
C262F |
probably damaging |
Het |
Zfp442 |
C |
T |
2: 150,250,582 (GRCm39) |
C383Y |
probably damaging |
Het |
Zfp57 |
G |
T |
17: 37,320,650 (GRCm39) |
R168L |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACGAAAGCCTGCCATAATGG -3'
(R):5'- AGTTCTTAGGCTAATTTGCACTGC -3'
Sequencing Primer
(F):5'- CCTTTACTTGAGGCAAAGAGC -3'
(R):5'- AGGCTAATTTGCACTGCTGAAGTC -3'
|
Posted On |
2014-06-30 |