Mutagenetix > Incidental Mutation

Incidental Mutation 'R6930:Denr'

539935

Institutional Source

Beutler Lab

Gene Symbol

Denr

Ensembl Gene

ENSMUSG00000023106

Gene Name

density-regulated protein

Synonyms

1500003K04Rik

MMRRC Submission

045046-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6930 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124045309-124066705 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124046250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 27 (Y27H)

Ref Sequence

ENSEMBL: ENSMUSP00000126174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023869] [ENSMUST00000166233]

AlphaFold

Q9CQJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000023869
AA Change: Y27H

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023869
Gene: ENSMUSG00000023106
AA Change: Y27H

Domain	Start	End	E-Value	Type
Pfam:SUI1	111	184	3.1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166233
AA Change: Y27H

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000126174
Gene: ENSMUSG00000023106
AA Change: Y27H

Domain	Start	End	E-Value	Type
Pfam:SUI1	108	183	4e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,466,563 (GRCm39)	D156E	probably benign	Het
Adam17	A	T	12: 21,403,949 (GRCm39)	V99E	probably damaging	Het
Akr1e1	T	C	13: 4,652,714 (GRCm39)	D41G	probably damaging	Het
Alcam	T	C	16: 52,126,018 (GRCm39)	I100V	probably benign	Het
Atr	T	C	9: 95,748,688 (GRCm39)	I411T	probably benign	Het
Bbs4	T	C	9: 59,230,764 (GRCm39)	S453G	probably benign	Het
Brdt	C	T	5: 107,507,081 (GRCm39)	L494F	probably benign	Het
Ccser1	T	C	6: 62,357,009 (GRCm39)	S816P	probably benign	Het
Cdk10	T	C	8: 123,957,347 (GRCm39)	I157T	probably damaging	Het
Ceacam5	G	A	7: 17,484,759 (GRCm39)		probably null	Het
Chst15	T	C	7: 131,870,759 (GRCm39)	I259V	possibly damaging	Het
Cracdl	A	T	1: 37,664,026 (GRCm39)	I624N	possibly damaging	Het
Csmd1	A	T	8: 16,142,409 (GRCm39)	M1498K	probably damaging	Het
D630045J12Rik	T	C	6: 38,135,151 (GRCm39)	D1343G	probably damaging	Het
Dop1a	T	C	9: 86,413,825 (GRCm39)		probably null	Het
Epg5	T	C	18: 78,057,378 (GRCm39)	F1819S	probably damaging	Het
Flg2	T	A	3: 93,108,642 (GRCm39)	Y223*	probably null	Het
Fry	T	C	5: 150,351,695 (GRCm39)	L1733P	probably benign	Het
Gabrb2	T	C	11: 42,488,440 (GRCm39)	V302A	probably damaging	Het
Gimap9	G	A	6: 48,654,601 (GRCm39)	D53N	probably damaging	Het
Gje1	G	T	10: 14,593,886 (GRCm39)	L3I	possibly damaging	Het
Gm49383	G	T	12: 69,239,586 (GRCm39)	A645E	probably damaging	Het
Gm8947	G	A	1: 151,068,347 (GRCm39)	G60D	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gys2	A	G	6: 142,405,106 (GRCm39)		probably null	Het
Hace1	A	G	10: 45,494,598 (GRCm39)	H136R	probably damaging	Het
Herc3	T	G	6: 58,893,444 (GRCm39)	V902G	probably damaging	Het
Hspbp1	T	C	7: 4,687,606 (GRCm39)	R2G	probably benign	Het
Iqch	T	A	9: 63,387,856 (GRCm39)	K811N	possibly damaging	Het
Kmt2a	A	G	9: 44,753,962 (GRCm39)		probably benign	Het
Lonrf2	A	T	1: 38,843,417 (GRCm39)	V372D	probably benign	Het
Lpin2	T	C	17: 71,551,786 (GRCm39)	Y729H	probably damaging	Het
Lrrc32	A	G	7: 98,148,471 (GRCm39)	N417S	possibly damaging	Het
Malrd1	T	A	2: 15,802,478 (GRCm39)	C1064S	unknown	Het
Mast3	G	A	8: 71,252,115 (GRCm39)	R20*	probably null	Het
Mypn	A	C	10: 62,952,718 (GRCm39)	I174S	probably damaging	Het
Nrg1	G	A	8: 32,308,534 (GRCm39)	T505M	probably damaging	Het
Or13p8	A	G	4: 118,584,338 (GRCm39)	K298R	probably damaging	Het
Or6y1	A	G	1: 174,276,677 (GRCm39)	I163V	probably damaging	Het
Or7a42	A	G	10: 78,791,615 (GRCm39)	D192G	possibly damaging	Het
Or7e178	A	G	9: 20,225,395 (GRCm39)	Y266H	probably damaging	Het
Phf3	T	C	1: 30,850,958 (GRCm39)	E1132G	probably damaging	Het
Pla2g4d	A	T	2: 120,101,114 (GRCm39)	M521K	probably damaging	Het
Plekhg1	A	G	10: 3,913,770 (GRCm39)	H1164R	possibly damaging	Het
Plxnb2	A	G	15: 89,044,592 (GRCm39)	V1218A	probably benign	Het
Pold1	A	G	7: 44,191,630 (GRCm39)	S119P	probably benign	Het
Pole	T	A	5: 110,441,156 (GRCm39)	D203E	probably benign	Het
Rapgefl1	T	A	11: 98,737,947 (GRCm39)	L387Q	probably damaging	Het
Rbm33	T	C	5: 28,557,504 (GRCm39)	I199T	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rufy1	C	A	11: 50,289,207 (GRCm39)	R545L	probably benign	Het
Ryr3	T	A	2: 112,690,699 (GRCm39)	D1117V	probably damaging	Het
Sap130	T	C	18: 31,815,141 (GRCm39)	V621A	possibly damaging	Het
Sparcl1	T	A	5: 104,234,940 (GRCm39)	Y525F	probably damaging	Het
Spon2	A	G	5: 33,373,771 (GRCm39)	V180A	probably benign	Het
Trav10n	G	A	14: 53,359,947 (GRCm39)	V75M	probably benign	Het
Ttc34	T	C	4: 154,923,543 (GRCm39)	L84P	probably damaging	Het
Vmn1r23	C	T	6: 57,903,130 (GRCm39)	R216K	probably benign	Het
Vmn2r61	A	G	7: 41,949,364 (GRCm39)	T595A	probably benign	Het
Vmn2r66	T	A	7: 84,661,216 (GRCm39)	I5F	possibly damaging	Het
Zfp879	C	T	11: 50,723,839 (GRCm39)	G406R	probably damaging	Het
Zic2	A	T	14: 122,713,869 (GRCm39)	D261V	probably damaging	Het

Other mutations in Denr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01367:Denr	APN	5	124,046,182 (GRCm39)	missense	probably benign	0.19
R0007:Denr	UTSW	5	124,062,877 (GRCm39)	missense	probably damaging	1.00
R0007:Denr	UTSW	5	124,062,877 (GRCm39)	missense	probably damaging	1.00
R0025:Denr	UTSW	5	124,065,298 (GRCm39)	unclassified	probably benign
R0079:Denr	UTSW	5	124,062,908 (GRCm39)	missense	probably damaging	1.00
R0567:Denr	UTSW	5	124,046,221 (GRCm39)	missense	probably benign	0.01
R1818:Denr	UTSW	5	124,055,283 (GRCm39)	missense	probably benign	0.00
R5125:Denr	UTSW	5	124,065,144 (GRCm39)	missense	probably damaging	1.00
R7657:Denr	UTSW	5	124,046,263 (GRCm39)	missense	probably damaging	0.96
R8379:Denr	UTSW	5	124,065,124 (GRCm39)	missense	possibly damaging	0.59
R8970:Denr	UTSW	5	124,055,279 (GRCm39)	missense	probably damaging	1.00
R9680:Denr	UTSW	5	124,065,117 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TGGAAGCTAAGACTGCACCC -3'
(R):5'- TCAATTGGCCAGGAAACTCC -3'

Sequencing Primer
(F):5'- GCTAAGACTGCACCCCACCC -3'
(R):5'- CCCTGGAAAAGAAGGAGTCATCTAC -3'

Posted On

2018-11-06