Incidental Mutation 'R1478:Dmtf1'
| ID |
165607 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmtf1
|
| Ensembl Gene |
ENSMUSG00000042508 |
| Gene Name |
cyclin D binding myb like transcription factor 1 |
| Synonyms |
Dmp1 |
| MMRRC Submission |
039531-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.599)
|
| Stock # |
R1478 (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 G
at 9171404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 501
(V501A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000115365]
[ENSMUST00000183448]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184888]
[ENSMUST00000184620]
[ENSMUST00000184159]
[ENSMUST00000184401]
[ENSMUST00000198935]
[ENSMUST00000196029]
|
| AlphaFold |
Q8CE22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071921
AA Change: V571A
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: V571A
| 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: V501A
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: V501A
| 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: V483A
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: V483A
| 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: 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: 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: 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: ENSMUST00000198935
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184370
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
A |
5: 125,580,287 (GRCm39) |
I204N |
possibly damaging |
Het |
| Acaca |
A |
G |
11: 84,263,453 (GRCm39) |
T2025A |
probably damaging |
Het |
| B4galt3 |
C |
T |
1: 171,103,938 (GRCm39) |
R170C |
probably benign |
Het |
| BC028528 |
T |
C |
3: 95,799,271 (GRCm39) |
|
probably null |
Het |
| Ccdc73 |
A |
T |
2: 104,737,955 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,745,012 (GRCm39) |
T50A |
possibly damaging |
Het |
| Ccdc83 |
T |
C |
7: 89,908,677 (GRCm39) |
D19G |
probably damaging |
Het |
| Ccn6 |
G |
A |
10: 39,029,239 (GRCm39) |
R230W |
probably damaging |
Het |
| Cct8l1 |
T |
C |
5: 25,722,767 (GRCm39) |
V494A |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,959,769 (GRCm39) |
F663L |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,270,065 (GRCm39) |
E319V |
probably damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,460,295 (GRCm39) |
V679A |
probably damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Cyp3a11 |
G |
T |
5: 145,795,581 (GRCm39) |
L457I |
probably benign |
Het |
| Dera |
T |
A |
6: 137,807,193 (GRCm39) |
S214T |
possibly damaging |
Het |
| Dnpep |
A |
G |
1: 75,292,671 (GRCm39) |
V114A |
probably damaging |
Het |
| Dscam |
C |
T |
16: 96,592,110 (GRCm39) |
V722M |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,365,114 (GRCm39) |
N499S |
probably damaging |
Het |
| Ecd |
A |
T |
14: 20,396,725 (GRCm39) |
Y53* |
probably null |
Het |
| Esyt3 |
T |
C |
9: 99,200,119 (GRCm39) |
T692A |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,478,659 (GRCm39) |
N2545K |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,795,072 (GRCm39) |
|
probably null |
Het |
| Fscn3 |
A |
G |
6: 28,430,567 (GRCm39) |
M246V |
probably benign |
Het |
| Gde1 |
G |
T |
7: 118,291,007 (GRCm39) |
T106K |
probably benign |
Het |
| Gjc2 |
A |
G |
11: 59,068,434 (GRCm39) |
I16T |
possibly damaging |
Het |
| Hacd4 |
A |
T |
4: 88,341,260 (GRCm39) |
M168K |
probably damaging |
Het |
| Hmx3 |
A |
G |
7: 131,145,826 (GRCm39) |
E178G |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,961,171 (GRCm39) |
Y266C |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,039 (GRCm39) |
L170Q |
probably damaging |
Het |
| Kif27 |
G |
T |
13: 58,451,359 (GRCm39) |
R990S |
probably damaging |
Het |
| Krtap22-2 |
A |
T |
16: 88,807,534 (GRCm39) |
Y21* |
probably null |
Het |
| Lrrc41 |
T |
A |
4: 115,952,405 (GRCm39) |
L661* |
probably null |
Het |
| Lrrc63 |
T |
C |
14: 75,363,424 (GRCm39) |
T236A |
probably benign |
Het |
| Mmp13 |
T |
C |
9: 7,272,892 (GRCm39) |
L84P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,183,551 (GRCm39) |
I754T |
probably benign |
Het |
| Neb |
A |
C |
2: 52,065,619 (GRCm39) |
D5961E |
probably benign |
Het |
| Nlrx1 |
T |
C |
9: 44,175,374 (GRCm39) |
H134R |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,117,673 (GRCm39) |
M542K |
probably benign |
Het |
| Nup160 |
C |
T |
2: 90,509,743 (GRCm39) |
|
probably benign |
Het |
| Or3a1c |
T |
A |
11: 74,045,963 (GRCm39) |
|
probably null |
Het |
| Or8g33 |
T |
A |
9: 39,337,888 (GRCm39) |
T160S |
possibly damaging |
Het |
| Pikfyve |
T |
C |
1: 65,302,136 (GRCm39) |
|
probably null |
Het |
| Ppp6r1 |
A |
T |
7: 4,643,377 (GRCm39) |
|
probably null |
Het |
| Prss33 |
A |
G |
17: 24,054,072 (GRCm39) |
W45R |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,069,302 (GRCm39) |
Y980* |
probably null |
Het |
| Qrich1 |
T |
C |
9: 108,436,531 (GRCm39) |
V743A |
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,659,329 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,376,369 (GRCm39) |
N297K |
probably benign |
Het |
| Sap130 |
A |
G |
18: 31,813,527 (GRCm39) |
H528R |
possibly damaging |
Het |
| Slc9b2 |
T |
C |
3: 135,031,863 (GRCm39) |
V241A |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,276,581 (GRCm39) |
V577E |
probably benign |
Het |
| Srrm2 |
T |
C |
17: 24,034,876 (GRCm39) |
S507P |
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,117,969 (GRCm39) |
|
probably null |
Het |
| Susd5 |
T |
C |
9: 113,925,752 (GRCm39) |
F545S |
probably benign |
Het |
| Tafa2 |
T |
A |
10: 123,429,401 (GRCm39) |
M5K |
possibly damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,775,764 (GRCm39) |
T107A |
probably benign |
Het |
| Trappc6b |
T |
A |
12: 59,094,953 (GRCm39) |
I41F |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,682,417 (GRCm39) |
|
probably benign |
Het |
| Vmn1r88 |
A |
C |
7: 12,911,878 (GRCm39) |
D78A |
probably damaging |
Het |
| Xpc |
C |
T |
6: 91,485,510 (GRCm39) |
D122N |
possibly damaging |
Het |
| Xpo1 |
C |
T |
11: 23,241,623 (GRCm39) |
A890V |
probably damaging |
Het |
| Zfp493 |
A |
G |
13: 67,934,680 (GRCm39) |
H211R |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,679,190 (GRCm39) |
H405L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCCTGCTTAAGGTCAGTGTCGG -3'
(R):5'- ATGCTGCCTGTCCTCAGTACAGTC -3'
Sequencing Primer
(F):5'- TGACCATGACACTGTTCATCAG -3'
(R):5'- GTATACCTGTAATCGCCACTGTTTC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation