Incidental Mutation 'R4491:Dmtf1'
ID |
330720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dmtf1
|
Ensembl Gene |
ENSMUSG00000042508 |
Gene Name |
cyclin D binding myb like transcription factor 1 |
Synonyms |
Dmp1 |
MMRRC Submission |
041747-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.599)
|
Stock # |
R4491 (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 9190379 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]
[ENSMUST00000184372]
[ENSMUST00000184401]
[ENSMUST00000184888]
[ENSMUST00000184159]
[ENSMUST00000184620]
[ENSMUST00000196029]
|
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000184947
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196029
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (64/65) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
C |
A |
5: 64,055,812 (GRCm39) |
P183T |
probably damaging |
Het |
Bcan |
G |
A |
3: 87,897,540 (GRCm39) |
R682* |
probably null |
Het |
Bzw1 |
T |
A |
1: 58,443,418 (GRCm39) |
L410Q |
probably damaging |
Het |
Cdh5 |
A |
T |
8: 104,839,672 (GRCm39) |
I48F |
probably damaging |
Het |
Cdhr5 |
T |
C |
7: 140,853,970 (GRCm39) |
N173D |
possibly damaging |
Het |
Cfap74 |
T |
C |
4: 155,513,628 (GRCm39) |
M480T |
probably benign |
Het |
Col6a5 |
C |
T |
9: 105,817,211 (GRCm39) |
A367T |
unknown |
Het |
Cpsf1 |
A |
C |
15: 76,481,922 (GRCm39) |
Y1064D |
possibly damaging |
Het |
Defb6 |
A |
T |
8: 19,278,090 (GRCm39) |
H54L |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,455,758 (GRCm39) |
L827S |
possibly damaging |
Het |
Dnai4 |
T |
C |
4: 102,923,596 (GRCm39) |
E411G |
probably benign |
Het |
Dsc3 |
T |
C |
18: 20,134,922 (GRCm39) |
T21A |
probably benign |
Het |
Epb41l1 |
G |
T |
2: 156,364,088 (GRCm39) |
D866Y |
probably benign |
Het |
Epha1 |
T |
C |
6: 42,337,600 (GRCm39) |
M860V |
probably damaging |
Het |
Far2 |
T |
C |
6: 148,074,907 (GRCm39) |
L380P |
possibly damaging |
Het |
Fgd5 |
A |
G |
6: 91,966,280 (GRCm39) |
I680V |
possibly damaging |
Het |
Fnbp4 |
T |
C |
2: 90,583,312 (GRCm39) |
|
probably null |
Het |
Focad |
G |
A |
4: 88,278,142 (GRCm39) |
|
probably null |
Het |
Gm14180 |
T |
A |
11: 99,621,139 (GRCm39) |
|
probably benign |
Het |
Hbb-bh2 |
T |
C |
7: 103,489,622 (GRCm39) |
T5A |
probably benign |
Het |
Ighv7-2 |
A |
G |
12: 113,876,100 (GRCm39) |
F2L |
probably benign |
Het |
Igsf5 |
A |
G |
16: 96,165,281 (GRCm39) |
T19A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Klb |
A |
G |
5: 65,533,137 (GRCm39) |
N482S |
probably benign |
Het |
Lipo2 |
A |
C |
19: 33,699,100 (GRCm39) |
L310R |
probably damaging |
Het |
Mc3r |
A |
G |
2: 172,091,123 (GRCm39) |
H115R |
possibly damaging |
Het |
Meioc |
A |
G |
11: 102,565,746 (GRCm39) |
D398G |
possibly damaging |
Het |
Or10ag60 |
G |
A |
2: 87,437,736 (GRCm39) |
M1I |
probably null |
Het |
Or56a5 |
A |
T |
7: 104,792,983 (GRCm39) |
C172* |
probably null |
Het |
Or7a37 |
T |
C |
10: 78,806,151 (GRCm39) |
S223P |
probably damaging |
Het |
Pds5a |
T |
C |
5: 65,792,780 (GRCm39) |
T718A |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,385,723 (GRCm39) |
D1016N |
possibly damaging |
Het |
Pla2g2c |
T |
C |
4: 138,461,719 (GRCm39) |
|
probably null |
Het |
Plch1 |
T |
C |
3: 63,648,160 (GRCm39) |
I404V |
probably damaging |
Het |
Pou2af3 |
A |
G |
9: 51,181,955 (GRCm39) |
F206L |
probably benign |
Het |
Ppp2r5c |
A |
T |
12: 110,546,956 (GRCm39) |
D522V |
possibly damaging |
Het |
Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
Rapgef1 |
C |
T |
2: 29,609,668 (GRCm39) |
P702S |
possibly damaging |
Het |
Rasal3 |
T |
A |
17: 32,610,359 (GRCm39) |
D976V |
probably damaging |
Het |
Rasef |
A |
C |
4: 73,652,740 (GRCm39) |
L587R |
probably damaging |
Het |
Rptn |
A |
T |
3: 93,303,818 (GRCm39) |
R384* |
probably null |
Het |
Sema6a |
G |
A |
18: 47,439,524 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
G |
T |
2: 178,016,778 (GRCm39) |
T608K |
probably damaging |
Het |
Syde1 |
C |
T |
10: 78,426,062 (GRCm39) |
R35H |
probably benign |
Het |
Taf1 |
G |
T |
X: 100,586,665 (GRCm39) |
M313I |
possibly damaging |
Het |
Taf15 |
A |
T |
11: 83,375,520 (GRCm39) |
T31S |
probably benign |
Het |
Tktl2 |
T |
C |
8: 66,964,664 (GRCm39) |
V74A |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,432,229 (GRCm39) |
V489A |
probably damaging |
Het |
Tmem30a |
T |
C |
9: 79,684,567 (GRCm39) |
H95R |
probably damaging |
Het |
Trmt9b |
G |
A |
8: 36,972,760 (GRCm39) |
C70Y |
probably damaging |
Het |
Vmn1r75 |
C |
A |
7: 11,614,909 (GRCm39) |
Q214K |
probably damaging |
Het |
Vps13c |
C |
T |
9: 67,817,475 (GRCm39) |
T1049M |
probably benign |
Het |
Zfp37 |
T |
C |
4: 62,110,365 (GRCm39) |
Q274R |
probably benign |
Het |
Zfp648 |
T |
G |
1: 154,080,873 (GRCm39) |
L344R |
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 |
|
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'- AGCCATGATCTCTACAAGGAAC -3'
(R):5'- ATGATCGCTCTATGGACGTTTG -3'
Sequencing Primer
(F):5'- GTTGGGACAAAAAAATCCCT -3'
(R):5'- GTTAGGGTAATTAATTAGAGCTACGG -3'
|
Posted On |
2015-07-21 |