Incidental Mutation 'R5173:Dmtf1'
| ID |
398886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmtf1
|
| Ensembl Gene |
ENSMUSG00000042508 |
| Gene Name |
cyclin D binding myb like transcription factor 1 |
| Synonyms |
Dmp1 |
| MMRRC Submission |
042753-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.542)
|
| Stock # |
R5173 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 9190356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000183448]
[ENSMUST00000183525]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000196029]
[ENSMUST00000184372]
[ENSMUST00000184401]
[ENSMUST00000184888]
[ENSMUST00000184159]
[ENSMUST00000184620]
|
| AlphaFold |
Q8CE22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071921
|
| SMART Domains |
Protein: ENSMUSP00000071815
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
|
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: ENSMUST00000183525
|
| SMART Domains |
Protein: ENSMUSP00000139339
Gene: ENSMUSG00000042508
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
191 |
2e-20 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183792
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183973
|
| SMART Domains |
Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
| 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 |
noncoding transcript
Transcript: ENSMUST00000184947
|
| 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 |
|
| 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: 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: 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: ENSMUST00000184620
|
| SMART Domains |
Protein: ENSMUSP00000138816
Gene: ENSMUSG00000042508
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
111 |
185 |
4e-48 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
AC |
A |
11: 9,632,032 (GRCm39) |
|
probably null |
Het |
| Abca6 |
A |
T |
11: 110,082,546 (GRCm39) |
F1142L |
probably benign |
Het |
| Ap1g1 |
T |
A |
8: 110,577,764 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
C |
12: 8,058,238 (GRCm39) |
V2207A |
probably benign |
Het |
| Cenpp |
CAAACCTGAAAA |
CAAA |
13: 49,618,258 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
G |
11: 69,260,069 (GRCm39) |
|
probably benign |
Het |
| Coch |
C |
A |
12: 51,643,290 (GRCm39) |
Y103* |
probably null |
Het |
| Cul3 |
A |
T |
1: 80,259,133 (GRCm39) |
D382E |
possibly damaging |
Het |
| Cul5 |
T |
C |
9: 53,554,034 (GRCm39) |
T291A |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,545,645 (GRCm39) |
|
probably null |
Het |
| Dpp4 |
T |
C |
2: 62,217,474 (GRCm39) |
Y41C |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,238,841 (GRCm39) |
I45M |
probably damaging |
Het |
| Epn3 |
T |
C |
11: 94,386,923 (GRCm39) |
K149R |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,455,537 (GRCm39) |
E2029G |
probably damaging |
Het |
| Gm5799 |
A |
G |
14: 43,782,116 (GRCm39) |
N96S |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Grik5 |
T |
C |
7: 24,762,319 (GRCm39) |
H224R |
possibly damaging |
Het |
| Lpar6 |
A |
T |
14: 73,476,537 (GRCm39) |
E166V |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,360,985 (GRCm39) |
L683P |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,196,149 (GRCm39) |
I538M |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,997,311 (GRCm39) |
R77G |
possibly damaging |
Het |
| Muc21 |
G |
T |
17: 35,931,633 (GRCm39) |
|
probably benign |
Het |
| Mylk |
A |
G |
16: 34,797,383 (GRCm39) |
H1614R |
probably benign |
Het |
| Or2y16 |
T |
C |
11: 49,334,713 (GRCm39) |
F12L |
probably benign |
Het |
| Or4p18 |
G |
A |
2: 88,233,266 (GRCm39) |
T4I |
probably benign |
Het |
| Or7c19 |
T |
C |
8: 85,957,205 (GRCm39) |
L27P |
probably damaging |
Het |
| Osbpl1a |
C |
T |
18: 12,895,697 (GRCm39) |
V390I |
probably benign |
Het |
| Pcdha7 |
C |
A |
18: 37,107,705 (GRCm39) |
D243E |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,168,770 (GRCm39) |
N653K |
possibly damaging |
Het |
| Plin5 |
T |
G |
17: 56,422,548 (GRCm39) |
|
probably null |
Het |
| Plod1 |
A |
G |
4: 148,000,758 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,149,641 (GRCm39) |
K372E |
probably damaging |
Het |
| Psmd11 |
C |
T |
11: 80,351,566 (GRCm39) |
T263I |
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,769,676 (GRCm39) |
N396K |
probably benign |
Het |
| Rab39 |
T |
C |
9: 53,597,800 (GRCm39) |
E155G |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,874,712 (GRCm39) |
D293G |
probably benign |
Het |
| Rnf220 |
T |
C |
4: 117,146,471 (GRCm39) |
|
probably benign |
Het |
| Rnmt |
C |
T |
18: 68,454,430 (GRCm39) |
|
probably benign |
Het |
| Slc10a1 |
T |
A |
12: 81,002,802 (GRCm39) |
I279F |
probably damaging |
Het |
| Sp140l1 |
G |
A |
1: 85,078,288 (GRCm39) |
R54* |
probably null |
Het |
| Taar6 |
A |
G |
10: 23,861,250 (GRCm39) |
Y99H |
probably damaging |
Het |
| Tas2r144 |
T |
A |
6: 42,193,048 (GRCm39) |
F263I |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,061,768 (GRCm39) |
N399K |
possibly damaging |
Het |
| Tlr9 |
T |
A |
9: 106,103,151 (GRCm39) |
V814D |
possibly damaging |
Het |
| Tmem53 |
T |
A |
4: 117,122,908 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,928,337 (GRCm39) |
I511V |
possibly damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,844,935 (GRCm39) |
M766T |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,011,115 (GRCm39) |
V1027A |
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 |
|
|
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'- CACTGCTATTAACAGCTCAAGATC -3'
(R):5'- AGAGCTACGGTTATGATGGTGC -3'
Sequencing Primer
(F):5'- TGCTATTAACAGCTCAAGATCTCCAG -3'
(R):5'- ACGGTTATGATGGTGCAGATGAATC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation