Incidental Mutation 'R7706:Dmtf1'
ID 594272
Institutional Source Beutler Lab
Gene Symbol Dmtf1
Ensembl Gene ENSMUSG00000042508
Gene Name cyclin D binding myb like transcription factor 1
Synonyms Dmp1
MMRRC Submission 045767-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.542) question?
Stock # R7706 (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 A at 9174489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 484 (T484S)
Ref Sequence ENSEMBL: ENSMUSP00000071815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071921] [ENSMUST00000095017] [ENSMUST00000183448] [ENSMUST00000183973] [ENSMUST00000184120] [ENSMUST00000184159] [ENSMUST00000184401] [ENSMUST00000184620] [ENSMUST00000184888] [ENSMUST00000196029]
AlphaFold Q8CE22
Predicted Effect possibly damaging
Transcript: ENSMUST00000071921
AA Change: T484S

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: T484S

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: T414S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: T414S

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: ENSMUST00000183448
SMART Domains Protein: ENSMUSP00000139042
Gene: ENSMUSG00000042508

DomainStartEndE-ValueType
Blast:SANT 152 226 4e-48 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000183973
AA Change: T396S

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: T396S

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 benign
Transcript: ENSMUST00000184120
SMART Domains Protein: ENSMUSP00000138861
Gene: ENSMUSG00000042508

DomainStartEndE-ValueType
Blast:SANT 152 226 6e-48 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000184159
AA Change: K407N
SMART Domains Protein: ENSMUSP00000139231
Gene: ENSMUSG00000042508
AA Change: K407N

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
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: ENSMUST00000184620
SMART Domains Protein: ENSMUSP00000138816
Gene: ENSMUSG00000042508

DomainStartEndE-ValueType
Blast:SANT 111 185 4e-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: ENSMUST00000196029
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (52/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik G A 17: 46,044,583 (GRCm39) T46I unknown Het
Arhgef1 G A 7: 24,616,306 (GRCm39) D317N probably damaging Het
Atxn7l2 T C 3: 108,114,719 (GRCm39) D109G probably damaging Het
B4galnt3 C A 6: 120,195,913 (GRCm39) V305L probably benign Het
C9 T A 15: 6,488,402 (GRCm39) N85K probably benign Het
Cacna1g T C 11: 94,305,867 (GRCm39) I1941V probably benign Het
Capn15 A G 17: 26,183,125 (GRCm39) V518A probably benign Het
Chst10 A T 1: 38,905,106 (GRCm39) Y200N probably damaging Het
Ciao3 T C 17: 26,001,226 (GRCm39) *493Q probably null Het
Cir1 A G 2: 73,142,823 (GRCm39) S4P probably damaging Het
Cish G A 9: 107,177,840 (GRCm39) R172Q probably benign Het
Cnot10 A T 9: 114,422,506 (GRCm39) N693K probably damaging Het
Ddx6 A G 9: 44,538,939 (GRCm39) D249G probably damaging Het
Dennd6b T C 15: 89,069,447 (GRCm39) D528G probably benign Het
Dnaaf5 T C 5: 139,138,596 (GRCm39) V259A probably damaging Het
Dzip1l A T 9: 99,519,589 (GRCm39) S39C probably damaging Het
Efcab8 T A 2: 153,623,695 (GRCm39) M60K Het
Eml2 T A 7: 18,920,035 (GRCm39) V113D possibly damaging Het
Fnip1 A T 11: 54,406,325 (GRCm39) I1141F probably benign Het
Gm7298 T A 6: 121,712,570 (GRCm39) S127R probably damaging Het
Hcn2 G A 10: 79,570,017 (GRCm39) R622Q possibly damaging Het
Ift172 C T 5: 31,423,723 (GRCm39) W746* probably null Het
Irs1 A G 1: 82,265,412 (GRCm39) Y935H probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Klhl20 T C 1: 160,936,827 (GRCm39) I183V probably benign Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lalba T C 15: 98,379,474 (GRCm39) D103G probably damaging Het
Lpin3 T C 2: 160,747,210 (GRCm39) L822P probably damaging Het
Lrrc38 G A 4: 143,076,845 (GRCm39) C36Y probably damaging Het
Ly6e T C 15: 74,830,183 (GRCm39) S46P possibly damaging Het
Nav2 T C 7: 49,244,067 (GRCm39) I2098T probably benign Het
Nipbl T C 15: 8,381,010 (GRCm39) E594G probably benign Het
Or52k2 T A 7: 102,253,853 (GRCm39) H97Q probably benign Het
Parn T C 16: 13,425,117 (GRCm39) D432G probably damaging Het
Pcdh20 A G 14: 88,704,793 (GRCm39) S836P probably damaging Het
Pcmtd2 C T 2: 181,496,868 (GRCm39) R282C probably damaging Het
Ppp2r3c A G 12: 55,328,490 (GRCm39) I425T probably benign Het
Samm50 T A 15: 84,085,081 (GRCm39) probably null Het
Sars1 C T 3: 108,338,780 (GRCm39) probably null Het
Senp8 A G 9: 59,645,121 (GRCm39) Y12H possibly damaging Het
Slc13a4 T C 6: 35,247,290 (GRCm39) I577V possibly damaging Het
Srr T G 11: 74,803,961 (GRCm39) probably null Het
Steap2 T A 5: 5,732,967 (GRCm39) N19I possibly damaging Het
Sucla2 A G 14: 73,806,433 (GRCm39) Y168C probably damaging Het
Tha1 T C 11: 117,760,281 (GRCm39) Q275R probably damaging Het
Trim56 T C 5: 137,143,510 (GRCm39) N2S probably benign Het
Tubgcp6 T A 15: 88,988,426 (GRCm39) H849L probably benign Het
Uevld A G 7: 46,597,775 (GRCm39) I72T possibly damaging Het
Ybx1 A G 4: 119,136,164 (GRCm39) *323Q probably null Het
Zfp354b C T 11: 50,819,390 (GRCm39) probably null Het
Zfp36l2 A T 17: 84,494,346 (GRCm39) L97Q probably benign Het
Zfp729a T A 13: 67,771,612 (GRCm39) R78S possibly damaging 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
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
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'- AAGTGGATGTCTCACTTGTCTAGAC -3'
(R):5'- AAGCTGGCAGTGGGCTAATG -3'

Sequencing Primer
(F):5'- AGACTGTCCATCTGGCCTCAG -3'
(R):5'- GTGTCTGATCTTTGCGCCATCG -3'
Posted On 2019-11-12