Incidental Mutation 'R6184:Dmtf1'
ID |
488138 |
Institutional Source |
Beutler Lab
|
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 # |
R6184 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9176656 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 344
(N344S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139361
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000183448]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184159]
[ENSMUST00000184888]
[ENSMUST00000184620]
[ENSMUST00000184401]
[ENSMUST00000196029]
[ENSMUST00000184372]
|
AlphaFold |
Q8CE22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071921
AA Change: N432S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000071815 Gene: ENSMUSG00000042508 AA Change: N432S
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 |
probably benign
Transcript: ENSMUST00000095017
|
SMART Domains |
Protein: ENSMUSP00000092627 Gene: ENSMUSG00000042508
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: ENSMUST00000183973
AA Change: N344S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139361 Gene: ENSMUSG00000042508 AA Change: N344S
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 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: ENSMUST00000184370
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184947
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184903
|
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: 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: 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: ENSMUST00000184372
|
SMART Domains |
Protein: ENSMUSP00000139191 Gene: ENSMUSG00000042508
Domain | Start | End | E-Value | Type |
Blast:SANT
|
152 |
226 |
7e-49 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004P03Rik |
A |
G |
12: 17,057,179 (GRCm39) |
F106S |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,581,957 (GRCm39) |
F4696I |
probably benign |
Het |
Ank2 |
T |
C |
3: 126,756,047 (GRCm39) |
I1073V |
probably damaging |
Het |
Card11 |
A |
T |
5: 140,884,033 (GRCm39) |
D415E |
probably damaging |
Het |
Clec16a |
G |
A |
16: 10,390,792 (GRCm39) |
|
probably null |
Het |
Coro2a |
T |
C |
4: 46,540,504 (GRCm39) |
T472A |
probably benign |
Het |
D130043K22Rik |
T |
A |
13: 25,069,574 (GRCm39) |
F878I |
probably damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,787,127 (GRCm39) |
D80E |
probably damaging |
Het |
Ddrgk1 |
A |
T |
2: 130,506,481 (GRCm39) |
V2E |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,867,896 (GRCm39) |
H1508R |
probably benign |
Het |
Eml5 |
A |
G |
12: 98,829,388 (GRCm39) |
V503A |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,406,429 (GRCm39) |
H1060R |
probably benign |
Het |
Fbxw8 |
C |
T |
5: 118,251,814 (GRCm39) |
R233Q |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,890,211 (GRCm39) |
K238R |
probably damaging |
Het |
Flg |
T |
A |
3: 93,187,357 (GRCm39) |
S270T |
probably benign |
Het |
Gm10801 |
TC |
TCGCC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,519,659 (GRCm39) |
V32D |
probably damaging |
Het |
Gnl2 |
T |
G |
4: 124,948,022 (GRCm39) |
|
probably null |
Het |
Gpr162 |
A |
G |
6: 124,838,204 (GRCm39) |
S149P |
probably damaging |
Het |
Il2ra |
T |
A |
2: 11,652,790 (GRCm39) |
|
probably benign |
Het |
Kics2 |
T |
C |
10: 121,586,810 (GRCm39) |
L375P |
probably damaging |
Het |
Kmt5b |
T |
A |
19: 3,854,499 (GRCm39) |
M254K |
probably damaging |
Het |
Lrriq3 |
T |
C |
3: 154,835,039 (GRCm39) |
I258T |
probably benign |
Het |
Mbnl1 |
T |
C |
3: 60,523,165 (GRCm39) |
L328S |
probably damaging |
Het |
Mboat2 |
A |
G |
12: 25,001,430 (GRCm39) |
D277G |
possibly damaging |
Het |
Mug2 |
A |
G |
6: 122,014,005 (GRCm39) |
I364V |
probably benign |
Het |
Myh7 |
G |
A |
14: 55,226,315 (GRCm39) |
R442C |
probably damaging |
Het |
Nin |
A |
G |
12: 70,090,511 (GRCm39) |
L968P |
probably damaging |
Het |
Or1l8 |
T |
C |
2: 36,817,404 (GRCm39) |
T241A |
probably damaging |
Het |
Or5w14 |
A |
T |
2: 87,542,188 (GRCm39) |
Y21N |
probably benign |
Het |
Or8g53 |
T |
G |
9: 39,683,916 (GRCm39) |
Y60S |
probably damaging |
Het |
Per1 |
C |
T |
11: 68,993,730 (GRCm39) |
P403S |
probably damaging |
Het |
Ppip5k2 |
T |
C |
1: 97,661,730 (GRCm39) |
I723V |
possibly damaging |
Het |
Ptprg |
A |
G |
14: 12,153,943 (GRCm38) |
T555A |
probably benign |
Het |
Rgsl1 |
C |
T |
1: 153,703,194 (GRCm39) |
M187I |
probably benign |
Het |
Sec31a |
A |
G |
5: 100,517,453 (GRCm39) |
|
probably null |
Het |
Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Stx1b |
G |
A |
7: 127,407,077 (GRCm39) |
T206I |
possibly damaging |
Het |
Tsc22d4 |
T |
A |
5: 137,757,351 (GRCm39) |
M35K |
probably damaging |
Het |
Zc2hc1c |
A |
G |
12: 85,343,218 (GRCm39) |
K452E |
probably damaging |
Het |
Zfp386 |
A |
G |
12: 116,024,133 (GRCm39) |
N582S |
possibly damaging |
Het |
Zfp457 |
A |
G |
13: 67,440,976 (GRCm39) |
V437A |
possibly damaging |
Het |
Zfp599 |
T |
C |
9: 22,160,947 (GRCm39) |
Y406C |
probably benign |
Het |
Zfyve26 |
G |
A |
12: 79,315,501 (GRCm39) |
S1325F |
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 |
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 |
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'- CCATTAACTAGATCCTAAGGCCC -3'
(R):5'- GGCAAGAACAGTATGAGTGTAGT -3'
Sequencing Primer
(F):5'- TTAACTAGATCCTAAGGCCCAATGG -3'
(R):5'- TGGTGGCACAAGTCTCATAAGTCC -3'
|
Posted On |
2017-10-10 |