Incidental Mutation 'R5007:Dmtf1'
ID |
390198 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dmtf1
|
Ensembl Gene |
ENSMUSG00000042508 |
Gene Name |
cyclin D binding myb like transcription factor 1 |
Synonyms |
Dmp1 |
MMRRC Submission |
042598-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.542)
|
Stock # |
R5007 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 9172439 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]
[ENSMUST00000198935]
[ENSMUST00000184401]
[ENSMUST00000196029]
[ENSMUST00000184620]
[ENSMUST00000184159]
[ENSMUST00000184888]
|
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 |
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 |
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 |
unknown
Transcript: ENSMUST00000184370
AA Change: H49R
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184903
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198935
|
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: 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: ENSMUST00000184888
|
SMART Domains |
Protein: ENSMUSP00000139164 Gene: ENSMUSG00000042508
Domain | Start | End | E-Value | Type |
Blast:SANT
|
152 |
226 |
4e-48 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.6%
|
Validation Efficiency |
99% (89/90) |
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
C |
G |
7: 27,278,192 (GRCm39) |
T242R |
probably damaging |
Het |
Abca8b |
T |
C |
11: 109,827,590 (GRCm39) |
T1473A |
probably damaging |
Het |
Adam22 |
T |
C |
5: 8,217,393 (GRCm39) |
Y134C |
probably damaging |
Het |
Alg9 |
T |
A |
9: 50,699,524 (GRCm39) |
M183K |
probably damaging |
Het |
Ambra1 |
T |
C |
2: 91,602,655 (GRCm39) |
I213T |
possibly damaging |
Het |
Ankrd55 |
T |
A |
13: 112,504,466 (GRCm39) |
V376D |
probably benign |
Het |
Ano4 |
A |
C |
10: 88,948,807 (GRCm39) |
V166G |
probably benign |
Het |
Aox3 |
T |
A |
1: 58,202,583 (GRCm39) |
C730S |
probably benign |
Het |
Apc |
T |
A |
18: 34,446,016 (GRCm39) |
Y953N |
probably damaging |
Het |
Ass1 |
T |
C |
2: 31,391,544 (GRCm39) |
F273S |
possibly damaging |
Het |
Atg2b |
T |
C |
12: 105,610,135 (GRCm39) |
|
probably null |
Het |
B3gnt9 |
A |
G |
8: 105,981,122 (GRCm39) |
Y89H |
probably damaging |
Het |
Cd38 |
T |
G |
5: 44,063,506 (GRCm39) |
F200V |
probably damaging |
Het |
Cep170 |
G |
T |
1: 176,597,380 (GRCm39) |
R388S |
probably benign |
Het |
Col22a1 |
A |
T |
15: 71,816,271 (GRCm39) |
D614E |
probably damaging |
Het |
Crybg3 |
C |
A |
16: 59,378,463 (GRCm39) |
|
probably benign |
Het |
Ctdp1 |
A |
T |
18: 80,463,695 (GRCm39) |
S114T |
probably damaging |
Het |
Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,362,283 (GRCm39) |
V3715M |
probably damaging |
Het |
Dok1 |
A |
T |
6: 83,009,297 (GRCm39) |
L185H |
probably damaging |
Het |
Dpep1 |
T |
C |
8: 123,926,117 (GRCm39) |
V152A |
probably damaging |
Het |
Eif2ak1 |
G |
T |
5: 143,810,698 (GRCm39) |
R136L |
probably benign |
Het |
Eml5 |
A |
T |
12: 98,797,224 (GRCm39) |
S1063T |
probably damaging |
Het |
Fam171b |
T |
A |
2: 83,685,853 (GRCm39) |
L179* |
probably null |
Het |
Flot1 |
G |
T |
17: 36,135,267 (GRCm39) |
|
probably benign |
Het |
Fmn2 |
A |
T |
1: 174,571,866 (GRCm39) |
H1491L |
probably damaging |
Het |
Frem1 |
C |
T |
4: 82,859,049 (GRCm39) |
|
probably benign |
Het |
Gdf2 |
A |
G |
14: 33,666,863 (GRCm39) |
D195G |
probably benign |
Het |
Golga4 |
T |
G |
9: 118,387,368 (GRCm39) |
C1497G |
probably benign |
Het |
Gpaa1 |
T |
A |
15: 76,215,868 (GRCm39) |
C33* |
probably null |
Het |
Hectd1 |
A |
T |
12: 51,849,443 (GRCm39) |
C254S |
possibly damaging |
Het |
Hspa1b |
C |
T |
17: 35,177,086 (GRCm39) |
A300T |
probably benign |
Het |
Igf2bp2 |
A |
G |
16: 21,898,246 (GRCm39) |
I233T |
probably damaging |
Het |
Iqce |
C |
A |
5: 140,661,003 (GRCm39) |
A491S |
possibly damaging |
Het |
Irak3 |
A |
G |
10: 119,982,334 (GRCm39) |
|
probably null |
Het |
Kcnip1 |
T |
A |
11: 33,592,495 (GRCm39) |
H124L |
probably benign |
Het |
Klhdc10 |
G |
A |
6: 30,450,640 (GRCm39) |
R393Q |
probably benign |
Het |
Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,452,448 (GRCm39) |
V288A |
possibly damaging |
Het |
Mdp1 |
C |
T |
14: 55,896,683 (GRCm39) |
R126Q |
probably damaging |
Het |
Meltf |
A |
G |
16: 31,706,380 (GRCm39) |
D288G |
possibly damaging |
Het |
Mgat4e |
T |
A |
1: 134,468,890 (GRCm39) |
I385F |
probably benign |
Het |
Mical3 |
A |
C |
6: 121,015,030 (GRCm39) |
V211G |
probably damaging |
Het |
Mlh1 |
A |
G |
9: 111,100,478 (GRCm39) |
*39R |
probably null |
Het |
Mre11a |
A |
G |
9: 14,721,116 (GRCm39) |
D345G |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Nat1 |
T |
G |
8: 67,944,077 (GRCm39) |
L154R |
probably benign |
Het |
Nlrp4a |
A |
G |
7: 26,161,905 (GRCm39) |
D851G |
probably damaging |
Het |
Npas4 |
A |
C |
19: 5,039,684 (GRCm39) |
V54G |
possibly damaging |
Het |
Or13n4 |
T |
C |
7: 106,423,364 (GRCm39) |
Y123C |
probably damaging |
Het |
Pcbp4 |
G |
A |
9: 106,339,292 (GRCm39) |
G100R |
probably damaging |
Het |
Pcdh17 |
A |
G |
14: 84,770,737 (GRCm39) |
T1072A |
probably benign |
Het |
Pcdh18 |
T |
C |
3: 49,708,906 (GRCm39) |
N803S |
probably benign |
Het |
Ppat |
C |
T |
5: 77,076,525 (GRCm39) |
|
probably benign |
Het |
Ppm1l |
T |
A |
3: 69,224,931 (GRCm39) |
L11Q |
probably damaging |
Het |
Pram1 |
T |
A |
17: 33,864,411 (GRCm39) |
V658E |
probably damaging |
Het |
Prr12 |
C |
T |
7: 44,699,225 (GRCm39) |
|
probably benign |
Het |
Prxl2b |
A |
G |
4: 154,981,531 (GRCm39) |
|
probably null |
Het |
Ptprq |
A |
G |
10: 107,444,137 (GRCm39) |
V1489A |
probably benign |
Het |
Ryr1 |
T |
A |
7: 28,768,540 (GRCm39) |
I2817F |
probably damaging |
Het |
Sall2 |
A |
G |
14: 52,551,950 (GRCm39) |
L413P |
probably damaging |
Het |
Slc7a9 |
T |
A |
7: 35,153,554 (GRCm39) |
M185K |
probably benign |
Het |
Stag2 |
C |
T |
X: 41,355,130 (GRCm39) |
H1149Y |
possibly damaging |
Het |
Timm10b |
T |
A |
7: 105,290,298 (GRCm39) |
Y64N |
probably damaging |
Het |
Tmem30c |
T |
C |
16: 57,086,868 (GRCm39) |
T312A |
probably benign |
Het |
Tmem9b |
G |
T |
7: 109,344,550 (GRCm39) |
C17* |
probably null |
Het |
Vmn2r68 |
C |
A |
7: 84,881,622 (GRCm39) |
R486L |
probably benign |
Het |
Xkr9 |
T |
A |
1: 13,771,387 (GRCm39) |
I301N |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,925,704 (GRCm39) |
Q446R |
probably damaging |
Het |
Ythdf3 |
T |
C |
3: 16,259,362 (GRCm39) |
V503A |
possibly damaging |
Het |
Zfp280b |
T |
A |
10: 75,875,048 (GRCm39) |
V309D |
probably damaging |
Het |
Zfp53 |
T |
A |
17: 21,729,772 (GRCm39) |
C602S |
probably benign |
Het |
Zfp616 |
A |
T |
11: 73,974,643 (GRCm39) |
N395I |
possibly damaging |
Het |
Zfp644 |
T |
C |
5: 106,783,867 (GRCm39) |
I862M |
probably benign |
Het |
Zfp715 |
T |
C |
7: 42,949,019 (GRCm39) |
T314A |
possibly 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 |
|
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'- TGGGCAATACAGGAACCCAC -3'
(R):5'- GTTATTACGATAACCCAGACTCATCAC -3'
Sequencing Primer
(F):5'- GGGCAATACAGGAACCCACTTTTC -3'
(R):5'- GACTCATCACAGAGACACATTTTTC -3'
|
Posted On |
2016-06-06 |