Incidental Mutation 'R7721:Dmtf1'
| ID |
595217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmtf1
|
| Ensembl Gene |
ENSMUSG00000042508 |
| Gene Name |
cyclin D binding myb like transcription factor 1 |
| Synonyms |
Dmp1 |
| MMRRC Submission |
045777-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.542)
|
| Stock # |
R7721 (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 C
at 9176564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 463
(I463V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000183448]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184159]
[ENSMUST00000184372]
[ENSMUST00000184401]
[ENSMUST00000184620]
[ENSMUST00000184888]
[ENSMUST00000196029]
|
| AlphaFold |
Q8CE22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071921
AA Change: I463V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: I463V
| 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 damaging
Transcript: ENSMUST00000183973
AA Change: I375V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: I375V
| 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 |
silent
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: ENSMUST00000184372
|
| SMART Domains |
Protein: ENSMUSP00000139191
Gene: ENSMUSG00000042508
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SANT
|
152 |
226 |
7e-49 |
BLAST |
|
| 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% (51/52) |
| 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 |
|---|
| Acad10 |
T |
C |
5: 121,784,929 (GRCm39) |
|
probably null |
Het |
| Adamtsl3 |
T |
G |
7: 82,255,728 (GRCm39) |
M1580R |
possibly damaging |
Het |
| Alg9 |
T |
C |
9: 50,687,942 (GRCm39) |
I78T |
probably damaging |
Het |
| Ankmy2 |
G |
T |
12: 36,207,143 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
G |
T |
8: 123,621,498 (GRCm39) |
L785M |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,684,763 (GRCm39) |
D796E |
probably benign |
Het |
| C1s2 |
A |
G |
6: 124,607,017 (GRCm39) |
V277A |
possibly damaging |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,503,383 (GRCm39) |
I107T |
probably benign |
Het |
| Cldn15 |
A |
G |
5: 136,997,015 (GRCm39) |
M19V |
probably benign |
Het |
| Cldn23 |
T |
G |
8: 36,293,417 (GRCm39) |
S24R |
possibly damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,416 (GRCm39) |
I268N |
probably damaging |
Het |
| Csf2ra |
A |
T |
19: 61,215,024 (GRCm39) |
W147R |
probably damaging |
Het |
| Ctsb |
G |
T |
14: 63,370,765 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,088,874 (GRCm39) |
M34T |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,670,842 (GRCm39) |
D470V |
probably benign |
Het |
| Dtx4 |
A |
G |
19: 12,459,500 (GRCm39) |
S435P |
probably benign |
Het |
| Ear2 |
T |
A |
14: 44,340,495 (GRCm39) |
M51K |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,615,366 (GRCm39) |
L711* |
probably null |
Het |
| Elmo1 |
T |
A |
13: 20,464,973 (GRCm39) |
|
probably null |
Het |
| Faf1 |
T |
A |
4: 109,593,794 (GRCm39) |
I124N |
probably damaging |
Het |
| Gkap1 |
A |
C |
13: 58,384,799 (GRCm39) |
|
probably null |
Het |
| Glipr2 |
T |
C |
4: 43,957,770 (GRCm39) |
S4P |
probably benign |
Het |
| Gm38119 |
A |
T |
3: 92,645,337 (GRCm39) |
C86S |
unknown |
Het |
| Gpr171 |
T |
G |
3: 59,005,320 (GRCm39) |
I152L |
probably benign |
Het |
| Hes7 |
T |
A |
11: 69,012,352 (GRCm39) |
T9S |
unknown |
Het |
| Homer3 |
T |
C |
8: 70,743,662 (GRCm39) |
V180A |
probably benign |
Het |
| Irx1 |
T |
A |
13: 72,108,176 (GRCm39) |
M169L |
probably benign |
Het |
| Kap |
A |
G |
6: 133,828,690 (GRCm39) |
|
probably null |
Het |
| Mgat5b |
A |
G |
11: 116,857,627 (GRCm39) |
M2V |
|
Het |
| Mob4 |
C |
T |
1: 55,187,479 (GRCm39) |
Q76* |
probably null |
Het |
| Or10w3 |
T |
A |
19: 13,704,207 (GRCm39) |
I194N |
possibly damaging |
Het |
| Or8b47 |
A |
T |
9: 38,435,013 (GRCm39) |
|
probably null |
Het |
| Or8g26 |
A |
G |
9: 39,096,056 (GRCm39) |
D191G |
probably benign |
Het |
| Pate14 |
C |
T |
9: 36,549,159 (GRCm39) |
G34R |
possibly damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,132,689 (GRCm39) |
Q586L |
probably benign |
Het |
| Pgk2 |
T |
A |
17: 40,518,409 (GRCm39) |
I340F |
probably benign |
Het |
| Prex1 |
G |
A |
2: 166,419,810 (GRCm39) |
Q1289* |
probably null |
Het |
| Prr22 |
A |
G |
17: 57,078,819 (GRCm39) |
D324G |
possibly damaging |
Het |
| Rab2b |
A |
T |
14: 52,501,217 (GRCm39) |
S201T |
probably benign |
Het |
| Rdh1 |
T |
A |
10: 127,596,121 (GRCm39) |
|
probably null |
Het |
| Rhbdl1 |
G |
T |
17: 26,055,123 (GRCm39) |
N82K |
probably benign |
Het |
| Rspo1 |
C |
A |
4: 124,885,210 (GRCm39) |
Q29K |
possibly damaging |
Het |
| Rtp3 |
A |
T |
9: 110,814,948 (GRCm39) |
Y472* |
probably null |
Het |
| Senp5 |
T |
A |
16: 31,809,252 (GRCm39) |
M1L |
unknown |
Het |
| Slfn4 |
A |
T |
11: 83,078,389 (GRCm39) |
|
probably null |
Het |
| Stab1 |
A |
G |
14: 30,863,413 (GRCm39) |
V2091A |
possibly damaging |
Het |
| Stk32c |
A |
G |
7: 138,768,069 (GRCm39) |
S71P |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,320,180 (GRCm39) |
T2243A |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 88,985,604 (GRCm39) |
N1544K |
probably damaging |
Het |
| Uqcc1 |
T |
C |
2: 155,700,066 (GRCm39) |
N202S |
probably benign |
Het |
| Vmn2r18 |
C |
T |
5: 151,510,158 (GRCm39) |
E72K |
possibly damaging |
Het |
| Zfp654 |
C |
A |
16: 64,606,570 (GRCm39) |
C3F |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,821,263 (GRCm39) |
E600G |
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 |
|
R7706:Dmtf1
|
UTSW |
5 |
9,174,489 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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'- TGTGCAAATGTTAACGGAGGTG -3'
(R):5'- GTCTGTCGGAGAGTCAATGTTC -3'
Sequencing Primer
(F):5'- GGTGAACATAAAACGCCTTAGATCTC -3'
(R):5'- TCCCTTCAGTCCTAATAAAAGGTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation