Mutagenetix > Incidental Mutation

Incidental Mutation 'R1068:Dmtf1'

86080

Institutional Source

Beutler Lab

Gene Symbol

Dmtf1

Ensembl Gene

ENSMUSG00000042508

Gene Name

cyclin D binding myb like transcription factor 1

Synonyms

Dmp1

MMRRC Submission

039154-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.542) question?

Stock #

R1068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9168868-9211821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9186109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 159 (E159G)

Ref Sequence

ENSEMBL: ENSMUSP00000139339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071921] [ENSMUST00000095017] [ENSMUST00000183448] [ENSMUST00000183525] [ENSMUST00000183973] [ENSMUST00000184120] [ENSMUST00000184401] [ENSMUST00000184372] [ENSMUST00000184620] [ENSMUST00000184159] [ENSMUST00000184888] [ENSMUST00000196029]

AlphaFold

Q8CE22

Predicted Effect

probably benign
Transcript: ENSMUST00000071921
AA Change: E159G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000071815
Gene: ENSMUSG00000042508
AA Change: E159G

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

probably benign
Transcript: ENSMUST00000095017
AA Change: E159G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000092627
Gene: ENSMUSG00000042508
AA Change: E159G

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

probably benign
Transcript: ENSMUST00000183448
AA Change: E159G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139042
Gene: ENSMUSG00000042508
AA Change: E159G

Domain	Start	End	E-Value	Type
Blast:SANT	152	226	4e-48	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000183525
AA Change: E159G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139339
Gene: ENSMUSG00000042508
AA Change: E159G

Domain	Start	End	E-Value	Type
Blast:SANT	152	191	2e-20	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183792

Predicted Effect

probably benign
Transcript: ENSMUST00000183973
AA Change: E71G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139361
Gene: ENSMUSG00000042508
AA Change: E71G

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
AA Change: E159G

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138861
Gene: ENSMUSG00000042508
AA Change: E159G

Domain	Start	End	E-Value	Type
Blast:SANT	152	226	6e-48	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000184401
AA Change: E159G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139281
Gene: ENSMUSG00000042508
AA Change: E159G

Domain	Start	End	E-Value	Type
Blast:SANT	152	226	4e-48	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000184372
AA Change: E159G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139191
Gene: ENSMUSG00000042508
AA Change: E159G

Domain	Start	End	E-Value	Type
Blast:SANT	152	226	7e-49	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000184620
AA Change: E118G

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138816
Gene: ENSMUSG00000042508
AA Change: E118G

Domain	Start	End	E-Value	Type
Blast:SANT	111	185	4e-48	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000184159
AA Change: E118G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139231
Gene: ENSMUSG00000042508
AA Change: E118G

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

probably benign
Transcript: ENSMUST00000184888
AA Change: E159G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139164
Gene: ENSMUSG00000042508
AA Change: E159G

Domain	Start	End	E-Value	Type
Blast:SANT	152	226	4e-48	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184903

Predicted Effect

probably benign
Transcript: ENSMUST00000196029

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 94.9%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	A	T	18: 69,083,139 (GRCm39)	V25E	unknown	Het
Acsm4	C	A	7: 119,307,933 (GRCm39)	Q357K	probably benign	Het
Adam11	T	G	11: 102,667,204 (GRCm39)	L619R	probably damaging	Het
Ccne2	A	G	4: 11,192,850 (GRCm39)	N17S	probably benign	Het
Cfap52	T	C	11: 67,829,830 (GRCm39)	H313R	probably benign	Het
Chsy3	A	T	18: 59,543,361 (GRCm39)	H833L	probably damaging	Het
Csnk1a1	G	T	18: 61,702,634 (GRCm39)		probably null	Het
Cyp2c40	T	C	19: 39,801,025 (GRCm39)	K77E	possibly damaging	Het
Fat3	C	T	9: 15,881,330 (GRCm39)	V3181I	probably benign	Het
Gab1	T	C	8: 81,526,801 (GRCm39)	D99G	possibly damaging	Het
Garem1	T	C	18: 21,301,812 (GRCm39)	E125G	probably benign	Het
Kcnf1	A	G	12: 17,225,475 (GRCm39)	Y249H	probably damaging	Het
Kit	C	T	5: 75,770,178 (GRCm39)	H197Y	probably benign	Het
Memo1	T	A	17: 74,532,550 (GRCm39)	I153F	probably damaging	Het
Myh7	T	A	14: 55,224,776 (GRCm39)	N597I	possibly damaging	Het
Nop2	A	G	6: 125,109,242 (GRCm39)	K23E	probably damaging	Het
Nxf1	T	A	19: 8,740,118 (GRCm39)	V95E	probably damaging	Het
Pamr1	T	A	2: 102,472,590 (GRCm39)	C630S	probably damaging	Het
Ptprh	G	T	7: 4,552,462 (GRCm39)	P934Q	possibly damaging	Het
Ralgapa1	A	G	12: 55,837,095 (GRCm39)		probably null	Het
Ralyl	T	A	3: 13,841,949 (GRCm39)	N28K	probably damaging	Het
Rasgrp1	A	G	2: 117,113,057 (GRCm39)	V785A	probably benign	Het
Rpp30	T	A	19: 36,061,138 (GRCm39)	M1K	probably null	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Snx19	G	A	9: 30,340,314 (GRCm39)	R484Q	probably damaging	Het
Speer4a1	A	T	5: 26,241,024 (GRCm39)	L156Q	probably null	Het
St18	A	G	1: 6,865,786 (GRCm39)	D88G	probably benign	Het
Syt7	T	C	19: 10,421,375 (GRCm39)	Y520H	probably benign	Het
Taf7l2	C	T	10: 115,949,359 (GRCm39)	V56I	probably damaging	Het
Tle4	C	G	19: 14,429,543 (GRCm39)	W674C	probably damaging	Het
Tnik	T	A	3: 28,587,124 (GRCm39)	Y132N	probably damaging	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vps11	A	T	9: 44,264,316 (GRCm39)	L719Q	probably damaging	Het
Zc3h4	T	G	7: 16,163,161 (GRCm39)	H520Q	unknown	Het
Zdbf2	C	T	1: 63,342,589 (GRCm39)	R323C	possibly damaging	Het
Zfp616	T	A	11: 73,973,767 (GRCm39)	*99K	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
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'- AGTTCACACCCTTTCAAGTTCATAGCC -3'
(R):5'- GCTTACCCAGCCCCAGAATCTTTAC -3'

Sequencing Primer
(F):5'- GACCTTGAAATTCTAAAGGCAGC -3'
(R):5'- GAGCTACTGTACTTGGACATTTC -3'

Posted On

2013-11-18