Incidental Mutation 'R5646:Dmtf1'
| ID |
441136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmtf1
|
| Ensembl Gene |
ENSMUSG00000042508 |
| Gene Name |
cyclin D binding myb like transcription factor 1 |
| Synonyms |
Dmp1 |
| MMRRC Submission |
043294-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.599)
|
| Stock # |
R5646 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
9168868-9211821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9174515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 405
(S405F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071921]
[ENSMUST00000095017]
[ENSMUST00000183448]
[ENSMUST00000183973]
[ENSMUST00000184120]
[ENSMUST00000184159]
[ENSMUST00000184401]
[ENSMUST00000184888]
[ENSMUST00000184620]
[ENSMUST00000196029]
|
| AlphaFold |
Q8CE22 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071921
AA Change: S475F
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: S475F
| 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 |
possibly damaging
Transcript: ENSMUST00000095017
AA Change: S405F
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: S405F
| 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 |
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
AA Change: S387F
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: S387F
| 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: P399S
|
| SMART Domains |
Protein: ENSMUSP00000139231
Gene: ENSMUSG00000042508
AA Change: P399S
| 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 |
unknown
Transcript: ENSMUST00000184370
AA Change: S17F
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184903
|
| 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: 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add1 |
C |
A |
5: 34,788,024 (GRCm39) |
A691D |
probably benign |
Het |
| Agap3 |
C |
A |
5: 24,688,395 (GRCm39) |
D394E |
probably benign |
Het |
| Arhgef11 |
T |
C |
3: 87,591,793 (GRCm39) |
V59A |
possibly damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,052,277 (GRCm39) |
V402A |
probably benign |
Het |
| Bbs9 |
T |
C |
9: 22,490,011 (GRCm39) |
F261L |
probably benign |
Het |
| Bsn |
A |
T |
9: 107,987,631 (GRCm39) |
|
probably benign |
Het |
| Camk1 |
A |
G |
6: 113,316,301 (GRCm39) |
V81A |
probably damaging |
Het |
| Cass4 |
T |
G |
2: 172,258,165 (GRCm39) |
C54W |
probably damaging |
Het |
| Ccdc39 |
A |
T |
3: 33,879,699 (GRCm39) |
F456L |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,933,659 (GRCm39) |
E766G |
probably damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,962,339 (GRCm39) |
C171R |
probably damaging |
Het |
| Cdh9 |
G |
A |
15: 16,823,371 (GRCm39) |
E118K |
probably damaging |
Het |
| Col4a2 |
G |
A |
8: 11,491,281 (GRCm39) |
G1227R |
probably damaging |
Het |
| Cyp2d9 |
A |
G |
15: 82,336,665 (GRCm39) |
T5A |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,208,767 (GRCm39) |
D813V |
probably damaging |
Het |
| Drd2 |
A |
G |
9: 49,316,212 (GRCm39) |
K324R |
probably benign |
Het |
| Ergic1 |
T |
C |
17: 26,833,332 (GRCm39) |
S29P |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,087,338 (GRCm39) |
|
probably benign |
Het |
| Foxd2 |
C |
T |
4: 114,765,832 (GRCm39) |
A63T |
unknown |
Het |
| Gfap |
T |
C |
11: 102,782,282 (GRCm39) |
I409M |
probably benign |
Het |
| Gfpt1 |
A |
G |
6: 87,019,981 (GRCm39) |
M1V |
probably null |
Het |
| H2-T23 |
C |
G |
17: 36,342,695 (GRCm39) |
E148Q |
possibly damaging |
Het |
| Hip1 |
G |
A |
5: 135,457,595 (GRCm39) |
R704W |
probably damaging |
Het |
| Kif19a |
A |
C |
11: 114,670,480 (GRCm39) |
D130A |
probably damaging |
Het |
| Lin7b |
T |
C |
7: 45,018,617 (GRCm39) |
D14G |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,566,083 (GRCm39) |
N510K |
possibly damaging |
Het |
| Mettl5 |
C |
A |
2: 69,711,663 (GRCm39) |
G68* |
probably null |
Het |
| Mitf |
A |
T |
6: 97,990,655 (GRCm39) |
I184F |
probably damaging |
Het |
| Mmp9 |
T |
A |
2: 164,790,970 (GRCm39) |
H119Q |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,407,346 (GRCm39) |
H2768L |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,079,638 (GRCm39) |
I1032F |
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,144,774 (GRCm39) |
I1110T |
probably damaging |
Het |
| Nde1 |
T |
C |
16: 13,987,378 (GRCm39) |
F8L |
probably damaging |
Het |
| Or10aa3 |
C |
T |
1: 173,878,853 (GRCm39) |
Q305* |
probably null |
Het |
| Or2a25 |
A |
G |
6: 42,888,457 (GRCm39) |
|
probably null |
Het |
| Or2h2b-ps1 |
T |
C |
17: 37,480,808 (GRCm39) |
I244V |
probably benign |
Het |
| Or4f47 |
T |
C |
2: 111,973,028 (GRCm39) |
V246A |
possibly damaging |
Het |
| Or51r1 |
A |
C |
7: 102,228,512 (GRCm39) |
Y270S |
possibly damaging |
Het |
| Or5ac20 |
C |
T |
16: 59,104,342 (GRCm39) |
V173I |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,706 (GRCm39) |
D49G |
possibly damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,859,823 (GRCm39) |
H293R |
probably benign |
Het |
| Pde7a |
A |
T |
3: 19,287,937 (GRCm39) |
L244Q |
probably damaging |
Het |
| Pex14 |
T |
C |
4: 149,045,910 (GRCm39) |
D340G |
probably benign |
Het |
| Pfkfb4 |
A |
T |
9: 108,837,489 (GRCm39) |
I195F |
probably damaging |
Het |
| Pik3c2a |
C |
A |
7: 116,005,186 (GRCm39) |
G361W |
probably damaging |
Het |
| Prkcg |
T |
A |
7: 3,377,597 (GRCm39) |
M517K |
probably damaging |
Het |
| Prob1 |
A |
T |
18: 35,787,167 (GRCm39) |
F362L |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,937 (GRCm39) |
W232* |
probably null |
Het |
| Robo2 |
T |
C |
16: 73,758,707 (GRCm39) |
D688G |
probably damaging |
Het |
| Sec24c |
C |
A |
14: 20,729,641 (GRCm39) |
A73E |
probably benign |
Het |
| Slc15a3 |
A |
G |
19: 10,820,574 (GRCm39) |
N64D |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,811,782 (GRCm39) |
N65K |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,119,610 (GRCm39) |
S4467P |
probably damaging |
Het |
| Sptb |
G |
T |
12: 76,634,215 (GRCm39) |
D2165E |
probably benign |
Het |
| Sptbn5 |
A |
T |
2: 119,879,292 (GRCm39) |
|
noncoding transcript |
Het |
| Syt12 |
A |
T |
19: 4,506,569 (GRCm39) |
M192K |
possibly damaging |
Het |
| Tas2r107 |
A |
G |
6: 131,636,671 (GRCm39) |
V126A |
probably benign |
Het |
| Thbs3 |
T |
C |
3: 89,126,405 (GRCm39) |
L242P |
probably damaging |
Het |
| Timp2 |
A |
T |
11: 118,208,358 (GRCm39) |
|
probably null |
Het |
| Tmtc1 |
G |
A |
6: 148,148,329 (GRCm39) |
A751V |
probably damaging |
Het |
| Tnni2 |
A |
T |
7: 141,997,650 (GRCm39) |
D85V |
probably damaging |
Het |
| Ttc39b |
G |
A |
4: 83,162,307 (GRCm39) |
P319L |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,622,805 (GRCm39) |
K68M |
probably damaging |
Het |
| Usp25 |
G |
A |
16: 76,847,360 (GRCm39) |
R156Q |
probably benign |
Het |
| Vill |
A |
T |
9: 118,900,230 (GRCm39) |
D365V |
probably damaging |
Het |
| Vmn1r65 |
T |
A |
7: 6,012,223 (GRCm39) |
T4S |
probably benign |
Het |
| Vmn2r76 |
C |
A |
7: 85,875,261 (GRCm39) |
C572F |
probably damaging |
Het |
| Vps26a |
A |
C |
10: 62,304,077 (GRCm39) |
N181K |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,341,134 (GRCm39) |
L1125P |
probably damaging |
Het |
| Zbtb41 |
T |
G |
1: 139,351,501 (GRCm39) |
S205A |
probably benign |
Het |
| Zfp438 |
T |
C |
18: 5,214,526 (GRCm39) |
D144G |
probably benign |
Het |
| Zfp600 |
T |
C |
4: 146,131,670 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp84 |
C |
T |
7: 29,475,818 (GRCm39) |
T170M |
probably benign |
Het |
| Zmiz2 |
T |
A |
11: 6,352,837 (GRCm39) |
D654E |
probably damaging |
Het |
| Zswim4 |
A |
T |
8: 84,957,739 (GRCm39) |
|
probably null |
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 |
|
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'- GATGTCTCACTTGTCTAGACTGTCC -3'
(R):5'- TTAGTAAAGCTGGCAGTGGGC -3'
Sequencing Primer
(F):5'- AGACTGTCCATCTGGCCTCAG -3'
(R):5'- AGCTGGCAGTGGGCTAATG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation