Incidental Mutation 'R0149:Dmtf1'
ID 22702
Institutional Source Beutler Lab
Gene Symbol Dmtf1
Ensembl Gene ENSMUSG00000042508
Gene Name cyclin D binding myb like transcription factor 1
Synonyms Dmp1
MMRRC Submission 038433-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.599) question?
Stock # R0149 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 5
Chromosomal Location 9168868-9211821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 9182571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 188 (S188P)
Ref Sequence ENSEMBL: ENSMUSP00000139339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071921] [ENSMUST00000095017] [ENSMUST00000183448] [ENSMUST00000183525] [ENSMUST00000183973] [ENSMUST00000184120] [ENSMUST00000184159] [ENSMUST00000184401] [ENSMUST00000184888] [ENSMUST00000184620] [ENSMUST00000184372] [ENSMUST00000196029]
AlphaFold Q8CE22
Predicted Effect possibly damaging
Transcript: ENSMUST00000071921
AA Change: S188P

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: S188P

DomainStartEndE-ValueType
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: S188P

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: S188P

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000183448
AA Change: S188P

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139042
Gene: ENSMUSG00000042508
AA Change: S188P

DomainStartEndE-ValueType
Blast:SANT 152 226 4e-48 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000183525
AA Change: S188P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139339
Gene: ENSMUSG00000042508
AA Change: S188P

DomainStartEndE-ValueType
Blast:SANT 152 191 2e-20 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000183973
AA Change: S100P

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: S100P

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000184120
AA Change: S188P

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138861
Gene: ENSMUSG00000042508
AA Change: S188P

DomainStartEndE-ValueType
Blast:SANT 152 226 6e-48 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000184159
AA Change: S147P

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139231
Gene: ENSMUSG00000042508
AA Change: S147P

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000184401
AA Change: S188P

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139281
Gene: ENSMUSG00000042508
AA Change: S188P

DomainStartEndE-ValueType
Blast:SANT 152 226 4e-48 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000184888
AA Change: S188P

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139164
Gene: ENSMUSG00000042508
AA Change: S188P

DomainStartEndE-ValueType
Blast:SANT 152 226 4e-48 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000184620
AA Change: S147P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138816
Gene: ENSMUSG00000042508
AA Change: S147P

DomainStartEndE-ValueType
Blast:SANT 111 185 4e-48 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000184372
AA Change: S188P

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139191
Gene: ENSMUSG00000042508
AA Change: S188P

DomainStartEndE-ValueType
Blast:SANT 152 226 7e-49 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184947
Predicted Effect probably benign
Transcript: ENSMUST00000196029
Meta Mutation Damage Score 0.2602 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (84/87)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A C 8: 12,330,000 (GRCm39) S152R unknown Het
Acsbg2 A G 17: 57,160,924 (GRCm39) probably benign Het
Adam6a G T 12: 113,509,369 (GRCm39) V581F probably damaging Het
Adgrl3 A T 5: 81,908,544 (GRCm39) I1165F probably damaging Het
Aldh1l1 A G 6: 90,566,396 (GRCm39) K656E possibly damaging Het
Ankhd1 T C 18: 36,780,267 (GRCm39) I1773T probably damaging Het
Api5 A T 2: 94,253,842 (GRCm39) L287* probably null Het
Ascc3 A T 10: 50,484,089 (GRCm39) N55I probably benign Het
Cav1 C A 6: 17,339,352 (GRCm39) R146S possibly damaging Het
Cdhr2 A T 13: 54,881,820 (GRCm39) I1118F probably damaging Het
Cemip A G 7: 83,613,218 (GRCm39) I660T probably benign Het
Clk1 T A 1: 58,453,760 (GRCm39) N305Y probably damaging Het
Cux1 T A 5: 136,308,351 (GRCm39) I1263F probably damaging Het
Cyp2d26 A G 15: 82,676,968 (GRCm39) L152P probably damaging Het
Dock2 A G 11: 34,388,327 (GRCm39) L202P probably damaging Het
Dscaml1 T G 9: 45,653,978 (GRCm39) Y1418* probably null Het
Efemp2 A T 19: 5,527,988 (GRCm39) H107L probably damaging Het
Eng T C 2: 32,562,397 (GRCm39) probably null Het
Erc1 A T 6: 119,801,791 (GRCm39) S75R probably damaging Het
Fgl2 A T 5: 21,580,783 (GRCm39) D375V probably damaging Het
Fpr-rs6 T C 17: 20,402,475 (GRCm39) I295M probably benign Het
Fsip2 T C 2: 82,805,849 (GRCm39) S723P possibly damaging Het
Gdpd5 A G 7: 99,107,997 (GRCm39) I530V possibly damaging Het
Gm15217 T A 14: 46,617,841 (GRCm39) probably benign Het
Gm4922 T C 10: 18,659,289 (GRCm39) T478A probably benign Het
Gmcl1 A T 6: 86,709,891 (GRCm39) probably null Het
Has1 T C 17: 18,070,433 (GRCm39) T163A probably damaging Het
Hmcn1 A T 1: 150,553,075 (GRCm39) N2538K probably benign Het
Itga2 A G 13: 114,973,115 (GRCm39) probably benign Het
Kcnip1 A T 11: 33,793,177 (GRCm39) M5K probably benign Het
Kcnk4 T C 19: 6,903,562 (GRCm39) E329G probably benign Het
Kcnt1 T C 2: 25,788,276 (GRCm39) probably benign Het
Klkb1 A G 8: 45,729,100 (GRCm39) C375R probably damaging Het
Loxl2 C A 14: 69,930,527 (GRCm39) H764N probably benign Het
Lrrc55 A T 2: 85,026,589 (GRCm39) M145K probably damaging Het
Lrrtm2 A G 18: 35,345,985 (GRCm39) I439T probably benign Het
Magi1 A T 6: 93,724,226 (GRCm39) I263N probably damaging Het
Map4 C T 9: 109,896,692 (GRCm39) P641L probably damaging Het
Mars1 A T 10: 127,135,903 (GRCm39) N558K probably damaging Het
Mfap2 A G 4: 140,742,294 (GRCm39) D98G probably damaging Het
Mgat5b A G 11: 116,875,965 (GRCm39) probably benign Het
Mki67 A T 7: 135,300,153 (GRCm39) V1627D probably benign Het
Mtnr1a A T 8: 45,522,352 (GRCm39) I36F probably benign Het
Myh15 A T 16: 48,934,368 (GRCm39) N645I probably benign Het
Myo7b T A 18: 32,147,262 (GRCm39) I94F probably damaging Het
Nefh A T 11: 4,890,799 (GRCm39) S607T probably benign Het
Ngf T A 3: 102,427,762 (GRCm39) H174Q probably benign Het
Noa1 G A 5: 77,445,020 (GRCm39) Q600* probably null Het
Nr2f2 A G 7: 70,007,810 (GRCm39) V71A possibly damaging Het
Oas2 A T 5: 120,876,466 (GRCm39) F492L probably damaging Het
Or2y17 A T 11: 49,231,641 (GRCm39) Y94F probably benign Het
Or8g21 T A 9: 38,905,880 (GRCm39) M284L probably benign Het
Osmr A G 15: 6,871,432 (GRCm39) probably null Het
P4ha1 A G 10: 59,184,221 (GRCm39) T228A probably damaging Het
Pip5kl1 T C 2: 32,468,966 (GRCm39) V195A possibly damaging Het
Plagl2 A T 2: 153,073,523 (GRCm39) D459E probably benign Het
Plxna1 T C 6: 89,297,595 (GRCm39) E1863G probably null Het
Prdm10 T G 9: 31,227,455 (GRCm39) probably benign Het
Prr14l A C 5: 32,950,985 (GRCm39) L1936R probably damaging Het
Rgs1 T C 1: 144,124,825 (GRCm39) probably benign Het
Rgsl1 A G 1: 153,669,510 (GRCm39) F292S probably damaging Het
Rhobtb2 T C 14: 70,033,357 (GRCm39) T538A probably benign Het
Rictor A G 15: 6,813,588 (GRCm39) N1025D possibly damaging Het
Rsph10b T A 5: 143,875,727 (GRCm39) probably benign Het
Rwdd4a A G 8: 47,997,255 (GRCm39) D158G probably null Het
Sdk1 T C 5: 141,842,809 (GRCm39) probably benign Het
Serpina3n A C 12: 104,377,635 (GRCm39) K296T probably benign Het
Slco1a8 T C 6: 141,938,203 (GRCm39) T239A probably benign Het
Snw1 A G 12: 87,508,687 (GRCm39) V124A possibly damaging Het
Tas2r140 T G 6: 40,468,232 (GRCm39) F21V probably benign Het
Tmc6 G A 11: 117,660,274 (GRCm39) L655F probably damaging Het
Tmem260 A T 14: 48,689,504 (GRCm39) T108S possibly damaging Het
Trim2 T C 3: 84,098,083 (GRCm39) Y406C probably damaging Het
Tsc1 T C 2: 28,560,913 (GRCm39) I257T probably damaging Het
Ttn T C 2: 76,673,746 (GRCm39) probably benign Het
Unc80 T A 1: 66,560,760 (GRCm39) N829K possibly damaging Het
Vmn1r235 A C 17: 21,482,257 (GRCm39) D194A probably damaging Het
Vmn2r100 A T 17: 19,741,509 (GRCm39) probably null Het
Ylpm1 G T 12: 85,075,612 (GRCm39) R321L probably damaging Het
Zan T C 5: 137,395,028 (GRCm39) T4381A unknown Het
Zfp457 A G 13: 67,440,710 (GRCm39) F622L probably damaging Het
Zfy1 T C Y: 726,121 (GRCm39) H548R possibly damaging Het
Zmym4 A T 4: 126,804,938 (GRCm39) S441T probably benign Het
Other mutations in Dmtf1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCCGCCTTTCCACACAACCT -3'
(R):5'- CATTAGAGTCTCTCAATGTCATTGTTGACCT -3'

Sequencing Primer
(F):5'- AGTAATGATTCATAGCTGCCTCC -3'
(R):5'- CCATTTAGGCTCGCGGAA -3'
Posted On 2013-04-16