Incidental Mutation 'IGL02652:Dmtf1'
ID 302202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmtf1
Ensembl Gene ENSMUSG00000042508
Gene Name cyclin D binding myb like transcription factor 1
Synonyms Dmp1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.542) question?
Stock # IGL02652
Quality Score
Status
Chromosome 5
Chromosomal Location 9168868-9211821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9171853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 458 (T458S)
Ref Sequence ENSEMBL: ENSMUSP00000092627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071921] [ENSMUST00000095017] [ENSMUST00000115365] [ENSMUST00000183448] [ENSMUST00000183973] [ENSMUST00000184401] [ENSMUST00000184120] [ENSMUST00000184888] [ENSMUST00000184159] [ENSMUST00000184620] [ENSMUST00000196029] [ENSMUST00000198935]
AlphaFold Q8CE22
Predicted Effect probably benign
Transcript: ENSMUST00000071921
AA Change: T528S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: T528S

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 probably benign
Transcript: ENSMUST00000095017
AA Change: T458S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: T458S

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 probably benign
Transcript: ENSMUST00000115365
SMART Domains Protein: ENSMUSP00000111022
Gene: ENSMUSG00000079659

DomainStartEndE-ValueType
Pfam:DUF2678 1 118 2.4e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183347
Predicted Effect probably benign
Transcript: ENSMUST00000183448
SMART Domains Protein: ENSMUSP00000139042
Gene: ENSMUSG00000042508

DomainStartEndE-ValueType
Blast:SANT 152 226 4e-48 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000183973
AA Change: T440S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: T440S

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 noncoding transcript
Transcript: ENSMUST00000184903
Predicted Effect probably benign
Transcript: ENSMUST00000184401
SMART Domains Protein: ENSMUSP00000139281
Gene: ENSMUSG00000042508

DomainStartEndE-ValueType
Blast:SANT 152 226 4e-48 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000184120
SMART Domains Protein: ENSMUSP00000138861
Gene: ENSMUSG00000042508

DomainStartEndE-ValueType
Blast:SANT 152 226 6e-48 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000184888
SMART Domains Protein: ENSMUSP00000139164
Gene: ENSMUSG00000042508

DomainStartEndE-ValueType
Blast:SANT 152 226 4e-48 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000184159
SMART Domains Protein: ENSMUSP00000139231
Gene: ENSMUSG00000042508

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 probably benign
Transcript: ENSMUST00000184620
SMART Domains Protein: ENSMUSP00000138816
Gene: ENSMUSG00000042508

DomainStartEndE-ValueType
Blast:SANT 111 185 4e-48 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000184370
Predicted Effect probably benign
Transcript: ENSMUST00000196029
Predicted Effect probably benign
Transcript: ENSMUST00000198935
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,191,795 (GRCm39) D139E probably benign Het
Asph C T 4: 9,529,984 (GRCm39) V347I probably benign Het
Ccdc138 A T 10: 58,348,901 (GRCm39) D149V probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Cttn G T 7: 143,995,468 (GRCm39) Q382K probably benign Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Grik4 A G 9: 42,586,573 (GRCm39) V94A possibly damaging Het
Heatr6 T C 11: 83,660,558 (GRCm39) V566A probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Mertk A G 2: 128,643,190 (GRCm39) E863G probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Nyap2 T C 1: 81,219,435 (GRCm39) Y486H probably damaging Het
Oas1e T C 5: 120,933,470 (GRCm39) R32G probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Or4k48 A G 2: 111,475,839 (GRCm39) F168L probably benign Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Ptpn12 T C 5: 21,207,435 (GRCm39) K308E probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Snrpg T C 6: 86,353,510 (GRCm39) I30T probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A 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
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
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
Posted On 2015-04-16