Incidental Mutation 'R7706:Dmtf1'
ID |
594272 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dmtf1
|
Ensembl Gene |
ENSMUSG00000042508 |
Gene Name |
cyclin D binding myb like transcription factor 1 |
Synonyms |
Dmp1 |
MMRRC Submission |
045767-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.542)
|
Stock # |
R7706 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 9174489 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 484
(T484S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000183448]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184159]
[ENSMUST00000184401]
[ENSMUST00000184620]
[ENSMUST00000184888]
[ENSMUST00000196029]
|
AlphaFold |
Q8CE22 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071921
AA Change: T484S
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000071815 Gene: ENSMUSG00000042508 AA Change: T484S
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: T414S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000092627 Gene: ENSMUSG00000042508 AA Change: T414S
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 |
possibly damaging
Transcript: ENSMUST00000183973
AA Change: T396S
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139361 Gene: ENSMUSG00000042508 AA Change: T396S
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: ENSMUST00000184159
AA Change: K407N
|
SMART Domains |
Protein: ENSMUSP00000139231 Gene: ENSMUSG00000042508 AA Change: K407N
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (52/53) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600014C23Rik |
G |
A |
17: 46,044,583 (GRCm39) |
T46I |
unknown |
Het |
Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
Atxn7l2 |
T |
C |
3: 108,114,719 (GRCm39) |
D109G |
probably damaging |
Het |
B4galnt3 |
C |
A |
6: 120,195,913 (GRCm39) |
V305L |
probably benign |
Het |
C9 |
T |
A |
15: 6,488,402 (GRCm39) |
N85K |
probably benign |
Het |
Cacna1g |
T |
C |
11: 94,305,867 (GRCm39) |
I1941V |
probably benign |
Het |
Capn15 |
A |
G |
17: 26,183,125 (GRCm39) |
V518A |
probably benign |
Het |
Chst10 |
A |
T |
1: 38,905,106 (GRCm39) |
Y200N |
probably damaging |
Het |
Ciao3 |
T |
C |
17: 26,001,226 (GRCm39) |
*493Q |
probably null |
Het |
Cir1 |
A |
G |
2: 73,142,823 (GRCm39) |
S4P |
probably damaging |
Het |
Cish |
G |
A |
9: 107,177,840 (GRCm39) |
R172Q |
probably benign |
Het |
Cnot10 |
A |
T |
9: 114,422,506 (GRCm39) |
N693K |
probably damaging |
Het |
Ddx6 |
A |
G |
9: 44,538,939 (GRCm39) |
D249G |
probably damaging |
Het |
Dennd6b |
T |
C |
15: 89,069,447 (GRCm39) |
D528G |
probably benign |
Het |
Dnaaf5 |
T |
C |
5: 139,138,596 (GRCm39) |
V259A |
probably damaging |
Het |
Dzip1l |
A |
T |
9: 99,519,589 (GRCm39) |
S39C |
probably damaging |
Het |
Efcab8 |
T |
A |
2: 153,623,695 (GRCm39) |
M60K |
|
Het |
Eml2 |
T |
A |
7: 18,920,035 (GRCm39) |
V113D |
possibly damaging |
Het |
Fnip1 |
A |
T |
11: 54,406,325 (GRCm39) |
I1141F |
probably benign |
Het |
Gm7298 |
T |
A |
6: 121,712,570 (GRCm39) |
S127R |
probably damaging |
Het |
Hcn2 |
G |
A |
10: 79,570,017 (GRCm39) |
R622Q |
possibly damaging |
Het |
Ift172 |
C |
T |
5: 31,423,723 (GRCm39) |
W746* |
probably null |
Het |
Irs1 |
A |
G |
1: 82,265,412 (GRCm39) |
Y935H |
probably damaging |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Klhl20 |
T |
C |
1: 160,936,827 (GRCm39) |
I183V |
probably benign |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
Lalba |
T |
C |
15: 98,379,474 (GRCm39) |
D103G |
probably damaging |
Het |
Lpin3 |
T |
C |
2: 160,747,210 (GRCm39) |
L822P |
probably damaging |
Het |
Lrrc38 |
G |
A |
4: 143,076,845 (GRCm39) |
C36Y |
probably damaging |
Het |
Ly6e |
T |
C |
15: 74,830,183 (GRCm39) |
S46P |
possibly damaging |
Het |
Nav2 |
T |
C |
7: 49,244,067 (GRCm39) |
I2098T |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,381,010 (GRCm39) |
E594G |
probably benign |
Het |
Or52k2 |
T |
A |
7: 102,253,853 (GRCm39) |
H97Q |
probably benign |
Het |
Parn |
T |
C |
16: 13,425,117 (GRCm39) |
D432G |
probably damaging |
Het |
Pcdh20 |
A |
G |
14: 88,704,793 (GRCm39) |
S836P |
probably damaging |
Het |
Pcmtd2 |
C |
T |
2: 181,496,868 (GRCm39) |
R282C |
probably damaging |
Het |
Ppp2r3c |
A |
G |
12: 55,328,490 (GRCm39) |
I425T |
probably benign |
Het |
Samm50 |
T |
A |
15: 84,085,081 (GRCm39) |
|
probably null |
Het |
Sars1 |
C |
T |
3: 108,338,780 (GRCm39) |
|
probably null |
Het |
Senp8 |
A |
G |
9: 59,645,121 (GRCm39) |
Y12H |
possibly damaging |
Het |
Slc13a4 |
T |
C |
6: 35,247,290 (GRCm39) |
I577V |
possibly damaging |
Het |
Srr |
T |
G |
11: 74,803,961 (GRCm39) |
|
probably null |
Het |
Steap2 |
T |
A |
5: 5,732,967 (GRCm39) |
N19I |
possibly damaging |
Het |
Sucla2 |
A |
G |
14: 73,806,433 (GRCm39) |
Y168C |
probably damaging |
Het |
Tha1 |
T |
C |
11: 117,760,281 (GRCm39) |
Q275R |
probably damaging |
Het |
Trim56 |
T |
C |
5: 137,143,510 (GRCm39) |
N2S |
probably benign |
Het |
Tubgcp6 |
T |
A |
15: 88,988,426 (GRCm39) |
H849L |
probably benign |
Het |
Uevld |
A |
G |
7: 46,597,775 (GRCm39) |
I72T |
possibly damaging |
Het |
Ybx1 |
A |
G |
4: 119,136,164 (GRCm39) |
*323Q |
probably null |
Het |
Zfp354b |
C |
T |
11: 50,819,390 (GRCm39) |
|
probably null |
Het |
Zfp36l2 |
A |
T |
17: 84,494,346 (GRCm39) |
L97Q |
probably benign |
Het |
Zfp729a |
T |
A |
13: 67,771,612 (GRCm39) |
R78S |
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 |
|
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 |
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'- AAGTGGATGTCTCACTTGTCTAGAC -3'
(R):5'- AAGCTGGCAGTGGGCTAATG -3'
Sequencing Primer
(F):5'- AGACTGTCCATCTGGCCTCAG -3'
(R):5'- GTGTCTGATCTTTGCGCCATCG -3'
|
Posted On |
2019-11-12 |