Incidental Mutation 'R7742:Dmtf1'
| ID |
628404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmtf1
|
| Ensembl Gene |
ENSMUSG00000042508 |
| Gene Name |
cyclin D binding myb like transcription factor 1 |
| Synonyms |
Dmp1 |
| MMRRC Submission |
045798-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.542)
|
| Stock # |
R7742 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 9172457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143141
(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
|
| 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: 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
|
| 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 |
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 |
|
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (53/53) |
| 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 |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,714 (GRCm39) |
K417R |
possibly damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,542,064 (GRCm39) |
I886N |
probably damaging |
Het |
| Angptl2 |
A |
G |
2: 33,133,928 (GRCm39) |
T417A |
probably damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,367,538 (GRCm39) |
M1V |
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,384,161 (GRCm39) |
H1155R |
unknown |
Het |
| Csad |
A |
G |
15: 102,095,599 (GRCm39) |
S153P |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 138,990,611 (GRCm39) |
E192K |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,809,073 (GRCm39) |
I1055T |
probably benign |
Het |
| Dnai4 |
C |
T |
4: 102,947,630 (GRCm39) |
M215I |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,076,232 (GRCm39) |
D2975G |
probably benign |
Het |
| Eif1ad7 |
A |
T |
12: 88,238,476 (GRCm39) |
Y95N |
probably damaging |
Het |
| F5 |
G |
T |
1: 164,035,453 (GRCm39) |
V1876F |
possibly damaging |
Het |
| Fam81b |
T |
A |
13: 76,399,809 (GRCm39) |
I150F |
probably damaging |
Het |
| Fbl |
T |
A |
7: 27,877,684 (GRCm39) |
V252E |
probably damaging |
Het |
| Fbln1 |
A |
G |
15: 85,124,917 (GRCm39) |
D475G |
probably damaging |
Het |
| Fshr |
T |
A |
17: 89,293,590 (GRCm39) |
I363F |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,568,635 (GRCm39) |
L1328P |
probably damaging |
Het |
| Hcfc2 |
T |
A |
10: 82,547,659 (GRCm39) |
|
probably null |
Het |
| Ifi209 |
C |
A |
1: 173,470,198 (GRCm39) |
T262K |
probably damaging |
Het |
| Kif2b |
T |
A |
11: 91,467,411 (GRCm39) |
I291F |
possibly damaging |
Het |
| Lrp1b |
T |
A |
2: 40,712,641 (GRCm39) |
D3231V |
|
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,268,754 (GRCm39) |
K209E |
probably benign |
Het |
| Nup98 |
C |
T |
7: 101,802,464 (GRCm39) |
|
probably null |
Het |
| Odad3 |
T |
C |
9: 21,904,193 (GRCm39) |
D361G |
possibly damaging |
Het |
| Or2ag2 |
T |
C |
7: 106,485,829 (GRCm39) |
Q65R |
probably damaging |
Het |
| Or2j6 |
T |
A |
7: 139,980,234 (GRCm39) |
I242F |
probably benign |
Het |
| Pign |
T |
C |
1: 105,480,122 (GRCm39) |
I851V |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,341,204 (GRCm39) |
L19Q |
unknown |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,355,150 (GRCm39) |
L959P |
probably benign |
Het |
| Prkcg |
T |
C |
7: 3,378,459 (GRCm39) |
I627T |
possibly damaging |
Het |
| Prl7b1 |
A |
T |
13: 27,791,031 (GRCm39) |
M18K |
probably benign |
Het |
| Ptpn3 |
T |
A |
4: 57,265,092 (GRCm39) |
|
probably null |
Het |
| Rp1 |
A |
T |
1: 4,240,457 (GRCm39) |
F899I |
unknown |
Het |
| Sis |
T |
A |
3: 72,832,431 (GRCm39) |
Y1026F |
probably benign |
Het |
| Slc4a10 |
T |
G |
2: 62,127,194 (GRCm39) |
V879G |
probably damaging |
Het |
| Specc1l |
T |
C |
10: 75,082,251 (GRCm39) |
I549T |
probably benign |
Het |
| Spmip11 |
T |
A |
15: 98,483,250 (GRCm39) |
V60E |
probably damaging |
Het |
| Sprr2a3 |
G |
A |
3: 92,196,066 (GRCm39) |
V58M |
unknown |
Het |
| Sptbn2 |
C |
G |
19: 4,799,040 (GRCm39) |
R2037G |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,106,209 (GRCm39) |
H785Y |
probably benign |
Het |
| Tat |
T |
A |
8: 110,718,242 (GRCm39) |
N42K |
probably benign |
Het |
| Tmem184a |
C |
T |
5: 139,792,744 (GRCm39) |
A271T |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,451,493 (GRCm39) |
I411V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,733,872 (GRCm39) |
I4468V |
unknown |
Het |
| Vcam1 |
T |
C |
3: 115,909,734 (GRCm39) |
N531S |
possibly damaging |
Het |
| Vmn1r257 |
C |
T |
7: 22,391,343 (GRCm39) |
V134I |
probably benign |
Het |
| Xcl1 |
T |
C |
1: 164,763,041 (GRCm39) |
T7A |
unknown |
Het |
| Zc3h11a |
A |
G |
1: 133,565,173 (GRCm39) |
V242A |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,971,025 (GRCm39) |
Y335N |
probably benign |
Het |
| Zp2 |
T |
C |
7: 119,731,731 (GRCm39) |
I675V |
unknown |
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 |
|
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'- ACCATGGGCAATACAGGAAC -3'
(R):5'- ATTATCCAGCTTACCCACTACCTAG -3'
Sequencing Primer
(F):5'- GGGCAATACAGGAACCCACTTTTC -3'
(R):5'- GACTCATCACAGAGACACAT -3'
|
| Posted On |
2020-03-19 |
Incidental Mutation