Incidental Mutation 'R8479:Dmtf1'
| ID |
657420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmtf1
|
| Ensembl Gene |
ENSMUSG00000042508 |
| Gene Name |
cyclin D binding myb like transcription factor 1 |
| Synonyms |
Dmp1 |
| MMRRC Submission |
067923-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.542)
|
| Stock # |
R8479 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 9170428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 630
(V630I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000115365]
[ENSMUST00000183448]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184159]
[ENSMUST00000184401]
[ENSMUST00000184620]
[ENSMUST00000184888]
[ENSMUST00000196029]
[ENSMUST00000198935]
|
| AlphaFold |
Q8CE22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071921
AA Change: V700I
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: V700I
| 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 damaging
Transcript: ENSMUST00000095017
AA Change: V630I
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: V630I
| 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 |
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: V612I
PolyPhen 2
Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: V612I
| 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 |
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: 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: ENSMUST00000196029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198935
|
| Meta Mutation Damage Score |
0.0937 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (52/52) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
G |
A |
15: 83,112,061 (GRCm39) |
H241Y |
probably benign |
Het |
| Afg3l2 |
C |
T |
18: 67,581,986 (GRCm39) |
G29D |
probably benign |
Het |
| Ano2 |
T |
C |
6: 125,689,123 (GRCm39) |
S52P |
possibly damaging |
Het |
| Atp11a |
A |
T |
8: 12,892,932 (GRCm39) |
E641V |
possibly damaging |
Het |
| Atp6v1d |
T |
C |
12: 78,896,520 (GRCm39) |
T116A |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,403,596 (GRCm39) |
|
probably null |
Het |
| Cd109 |
T |
A |
9: 78,574,628 (GRCm39) |
Y537* |
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Celsr2 |
T |
A |
3: 108,306,218 (GRCm39) |
T2029S |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,736,707 (GRCm39) |
A711V |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,916,988 (GRCm39) |
I114V |
unknown |
Het |
| Crhbp |
A |
G |
13: 95,578,632 (GRCm39) |
V163A |
possibly damaging |
Het |
| Crmp1 |
C |
A |
5: 37,441,502 (GRCm39) |
P414Q |
possibly damaging |
Het |
| Cse1l |
G |
A |
2: 166,763,893 (GRCm39) |
E78K |
possibly damaging |
Het |
| Ctnna2 |
A |
G |
6: 77,735,573 (GRCm39) |
V35A |
probably damaging |
Het |
| Ddx1 |
T |
A |
12: 13,270,749 (GRCm39) |
N654I |
probably damaging |
Het |
| Dido1 |
A |
T |
2: 180,315,022 (GRCm39) |
|
probably null |
Het |
| Ercc6 |
T |
C |
14: 32,248,363 (GRCm39) |
S305P |
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 63,972,629 (GRCm39) |
S37T |
possibly damaging |
Het |
| Ess2 |
T |
C |
16: 17,728,805 (GRCm39) |
|
probably null |
Het |
| Fnip2 |
A |
G |
3: 79,419,862 (GRCm39) |
M138T |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,692,617 (GRCm39) |
V17A |
probably benign |
Het |
| Gm7324 |
T |
C |
14: 43,952,220 (GRCm39) |
S288P |
probably benign |
Het |
| Gucy2e |
G |
A |
11: 69,123,789 (GRCm39) |
A370V |
probably benign |
Het |
| H2-T13 |
G |
A |
17: 36,395,111 (GRCm39) |
A2V |
probably damaging |
Het |
| Ift57 |
T |
C |
16: 49,522,263 (GRCm39) |
F2L |
probably damaging |
Het |
| Ipo7 |
G |
A |
7: 109,638,452 (GRCm39) |
V240I |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,459,977 (GRCm39) |
Y201C |
probably damaging |
Het |
| Ly6g2 |
A |
G |
15: 75,089,626 (GRCm39) |
T45A |
probably damaging |
Het |
| Mapkap1 |
A |
T |
2: 34,471,302 (GRCm39) |
S389C |
probably damaging |
Het |
| Met |
G |
T |
6: 17,491,746 (GRCm39) |
|
probably null |
Het |
| Misp |
T |
C |
10: 79,663,750 (GRCm39) |
F575L |
possibly damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,071,051 (GRCm39) |
L136P |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,574,799 (GRCm39) |
T1128M |
possibly damaging |
Het |
| Nfyc |
A |
T |
4: 120,626,089 (GRCm39) |
V70E |
probably damaging |
Het |
| Nphp4 |
T |
C |
4: 152,608,747 (GRCm39) |
S452P |
probably benign |
Het |
| Oasl2 |
T |
A |
5: 115,035,852 (GRCm39) |
F43I |
probably damaging |
Het |
| Or10ak11 |
A |
G |
4: 118,687,212 (GRCm39) |
C141R |
probably damaging |
Het |
| Or5g25 |
A |
G |
2: 85,478,447 (GRCm39) |
S73P |
probably damaging |
Het |
| Pros1 |
G |
T |
16: 62,728,102 (GRCm39) |
G269W |
probably damaging |
Het |
| Rif1 |
A |
C |
2: 52,002,563 (GRCm39) |
S2006R |
possibly damaging |
Het |
| Ror2 |
G |
T |
13: 53,271,400 (GRCm39) |
N306K |
probably damaging |
Het |
| Rragd |
C |
T |
4: 33,018,734 (GRCm39) |
A379V |
probably benign |
Het |
| Slc10a2 |
C |
T |
8: 5,148,443 (GRCm39) |
|
probably null |
Het |
| Susd3 |
C |
T |
13: 49,390,952 (GRCm39) |
G113S |
probably benign |
Het |
| Tbc1d19 |
T |
A |
5: 54,041,031 (GRCm39) |
M371K |
possibly damaging |
Het |
| Tnn |
C |
A |
1: 159,950,397 (GRCm39) |
R736S |
probably benign |
Het |
| Trio |
T |
C |
15: 27,901,286 (GRCm39) |
T323A |
probably benign |
Het |
| Ubqln1 |
G |
A |
13: 58,339,653 (GRCm39) |
P324S |
probably benign |
Het |
| Uspl1 |
T |
C |
5: 149,152,004 (GRCm39) |
L1068P |
probably damaging |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,735 (GRCm39) |
I627N |
probably damaging |
Het |
| Wdr35 |
C |
A |
12: 9,035,985 (GRCm39) |
T252K |
probably benign |
Het |
| Zfp62 |
T |
C |
11: 49,107,319 (GRCm39) |
I470T |
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 |
|
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 |
|
|
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'- GTTTACCAAAGTGTAGGATTTACCC -3'
(R):5'- TCAACTCCTGGATCACCTTTGG -3'
Sequencing Primer
(F):5'- AGGATTTACCCAATAAAAGAACACTG -3'
(R):5'- CATGTAGGATTTAGAGTCTCCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation