Incidental Mutation 'IGL02215:Dmtf1'
ID284813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmtf1
Ensembl Gene ENSMUSG00000042508
Gene Namecyclin D binding myb-like transcription factor 1
SynonymsDmp1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.797) question?
Stock #IGL02215
Quality Score
Status
Chromosome5
Chromosomal Location9118801-9161776 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 9136070 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 172 (L172R)
Ref Sequence ENSEMBL: ENSMUSP00000138861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071921] [ENSMUST00000095017] [ENSMUST00000183448] [ENSMUST00000183525] [ENSMUST00000183973] [ENSMUST00000184120] [ENSMUST00000184159] [ENSMUST00000184372] [ENSMUST00000184401] [ENSMUST00000184620] [ENSMUST00000184888] [ENSMUST00000196029]
Predicted Effect probably damaging
Transcript: ENSMUST00000071921
AA Change: L172R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: L172R

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 damaging
Transcript: ENSMUST00000095017
AA Change: L172R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: L172R

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 damaging
Transcript: ENSMUST00000183448
AA Change: L172R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139042
Gene: ENSMUSG00000042508
AA Change: L172R

DomainStartEndE-ValueType
Blast:SANT 152 226 4e-48 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000183525
AA Change: L172R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139339
Gene: ENSMUSG00000042508
AA Change: L172R

DomainStartEndE-ValueType
Blast:SANT 152 191 2e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183792
Predicted Effect probably damaging
Transcript: ENSMUST00000183973
AA Change: L84R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: L84R

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 probably damaging
Transcript: ENSMUST00000184120
AA Change: L172R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138861
Gene: ENSMUSG00000042508
AA Change: L172R

DomainStartEndE-ValueType
Blast:SANT 152 226 6e-48 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000184159
AA Change: L131R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139231
Gene: ENSMUSG00000042508
AA Change: L131R

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 damaging
Transcript: ENSMUST00000184372
AA Change: L172R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139191
Gene: ENSMUSG00000042508
AA Change: L172R

DomainStartEndE-ValueType
Blast:SANT 152 226 7e-49 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000184401
AA Change: L172R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139281
Gene: ENSMUSG00000042508
AA Change: L172R

DomainStartEndE-ValueType
Blast:SANT 152 226 4e-48 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000184620
AA Change: L131R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138816
Gene: ENSMUSG00000042508
AA Change: L131R

DomainStartEndE-ValueType
Blast:SANT 111 185 4e-48 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000184888
AA Change: L172R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139164
Gene: ENSMUSG00000042508
AA Change: L172R

DomainStartEndE-ValueType
Blast:SANT 152 226 4e-48 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184947
Predicted Effect probably benign
Transcript: ENSMUST00000196029
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 127,395,573 S378R probably benign Het
Abca14 T A 7: 120,253,389 M859K probably benign Het
Adamts13 C T 2: 26,985,483 P462S probably damaging Het
Apol7a G T 15: 77,393,490 D19E possibly damaging Het
Armc8 T C 9: 99,483,978 N628D possibly damaging Het
Astn2 T A 4: 66,266,234 I209F unknown Het
Atp10b T C 11: 43,194,665 probably null Het
C4b C T 17: 34,734,491 C1006Y probably damaging Het
Capn13 A G 17: 73,330,998 L470P probably damaging Het
Col4a4 T C 1: 82,453,809 R1585G unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Csmd3 C T 15: 47,585,688 V3637M probably damaging Het
Dgki C T 6: 37,016,675 D584N probably damaging Het
Dmrt2 T C 19: 25,678,134 S366P probably damaging Het
Efhc2 A G X: 17,230,578 F177L probably damaging Het
Enpep T A 3: 129,270,277 probably benign Het
Enpp6 A T 8: 47,065,932 D245V probably damaging Het
Fam199x T A X: 137,062,650 probably benign Het
Fkbp4 A T 6: 128,434,470 probably benign Het
Gas7 A G 11: 67,643,332 H86R probably benign Het
Gcc2 A G 10: 58,271,636 N862S probably benign Het
Gstm7 T C 3: 107,930,278 D115G possibly damaging Het
Gtse1 C A 15: 85,862,598 P205Q possibly damaging Het
Herc4 G A 10: 63,273,566 M193I probably benign Het
Hist1h2ba A T 13: 23,934,110 F16Y probably benign Het
Igfl3 T A 7: 18,179,838 C38S possibly damaging Het
Il18rap G A 1: 40,547,922 D455N probably damaging Het
Ints8 A G 4: 11,209,244 I932T probably damaging Het
Itgbl1 A C 14: 123,972,141 I311L probably benign Het
Jmjd1c A T 10: 67,220,322 H794L probably damaging Het
Kif1a A G 1: 93,020,549 S1542P probably benign Het
Klc3 T A 7: 19,395,825 N373I probably damaging Het
Lcn2 T C 2: 32,384,865 *201W probably null Het
Ldhb A T 6: 142,495,566 probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Npat T A 9: 53,559,117 S348T probably benign Het
Pclo A T 5: 14,856,985 D5001V unknown Het
Peg3 C A 7: 6,709,011 A1071S probably benign Het
Piwil2 A T 14: 70,391,373 D731E possibly damaging Het
Prss41 T A 17: 23,843,856 D35V probably benign Het
Ptprz1 T A 6: 22,965,182 D159E possibly damaging Het
Rabep1 C T 11: 70,923,197 Q571* probably null Het
Scn8a A G 15: 101,029,572 probably null Het
Sipa1l2 G A 8: 125,447,837 T1234I possibly damaging Het
Slc5a10 T A 11: 61,673,912 M414L probably benign Het
Smg5 T C 3: 88,352,998 S632P possibly damaging Het
Smim15 A G 13: 108,047,514 D18G probably benign Het
Sorl1 T A 9: 42,018,182 I1132F probably damaging Het
Spatc1 T C 15: 76,283,539 probably benign Het
Sytl2 A T 7: 90,381,214 probably benign Het
Tesc A G 5: 118,061,618 D195G probably damaging Het
Tmem39b T A 4: 129,692,518 probably null Het
Vmn2r52 A G 7: 10,171,102 V270A probably damaging Het
Wdr3 C A 3: 100,146,700 probably null Het
Other mutations in Dmtf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02323:Dmtf1 APN 5 9120056 missense possibly damaging 0.96
IGL02652:Dmtf1 APN 5 9121853 missense probably benign 0.01
IGL02680:Dmtf1 APN 5 9130381 missense probably benign 0.01
IGL02732:Dmtf1 APN 5 9136098 missense possibly damaging 0.77
IGL03002:Dmtf1 APN 5 9140474 missense probably damaging 1.00
IGL03074:Dmtf1 APN 5 9124435 intron probably benign
R0149:Dmtf1 UTSW 5 9132571 missense probably damaging 1.00
R0466:Dmtf1 UTSW 5 9132454 critical splice donor site probably null
R0825:Dmtf1 UTSW 5 9130388 missense probably damaging 1.00
R0973:Dmtf1 UTSW 5 9127987 missense possibly damaging 0.51
R0973:Dmtf1 UTSW 5 9127987 missense possibly damaging 0.51
R0974:Dmtf1 UTSW 5 9127987 missense possibly damaging 0.51
R1068:Dmtf1 UTSW 5 9136109 missense probably damaging 1.00
R1293:Dmtf1 UTSW 5 9140383 splice site probably null
R1478:Dmtf1 UTSW 5 9121404 missense possibly damaging 0.93
R1515:Dmtf1 UTSW 5 9140384 critical splice donor site probably null
R1861:Dmtf1 UTSW 5 9120347 splice site probably null
R1898:Dmtf1 UTSW 5 9128091 missense probably damaging 0.99
R1970:Dmtf1 UTSW 5 9148989 missense probably benign 0.01
R1971:Dmtf1 UTSW 5 9148989 missense probably benign 0.01
R2519:Dmtf1 UTSW 5 9129323 missense possibly damaging 0.71
R3053:Dmtf1 UTSW 5 9129316 missense probably damaging 0.99
R3195:Dmtf1 UTSW 5 9132454 intron probably benign
R4467:Dmtf1 UTSW 5 9136085 missense probably damaging 1.00
R4490:Dmtf1 UTSW 5 9140379 intron probably benign
R4491:Dmtf1 UTSW 5 9140379 intron probably benign
R5007:Dmtf1 UTSW 5 9122439 unclassified probably benign
R5173:Dmtf1 UTSW 5 9140356 intron probably benign
R5184:Dmtf1 UTSW 5 9126641 missense probably benign 0.36
R5646:Dmtf1 UTSW 5 9124515 missense possibly damaging 0.62
R5958:Dmtf1 UTSW 5 9122415 unclassified probably benign
R5977:Dmtf1 UTSW 5 9140451 missense probably damaging 0.99
R6184:Dmtf1 UTSW 5 9126656 missense probably benign
R6887:Dmtf1 UTSW 5 9137149 missense probably damaging 1.00
R6921:Dmtf1 UTSW 5 9130654 intron probably benign
R7242:Dmtf1 UTSW 5 9149016 missense possibly damaging 0.90
R7706:Dmtf1 UTSW 5 9124489 missense possibly damaging 0.86
R7721:Dmtf1 UTSW 5 9126564 missense probably damaging 1.00
R7739:Dmtf1 UTSW 5 9140453 missense probably damaging 1.00
R7859:Dmtf1 UTSW 5 9128044 missense probably damaging 1.00
R7883:Dmtf1 UTSW 5 9140397 missense probably benign 0.35
R7942:Dmtf1 UTSW 5 9128044 missense probably damaging 1.00
R7966:Dmtf1 UTSW 5 9140397 missense probably benign 0.35
Posted On2015-04-16