Mutagenetix > Incidental Mutation

Incidental Mutation 'R0021:Dhx36'

64755

Institutional Source

Beutler Lab

Gene Symbol

Dhx36

Ensembl Gene

ENSMUSG00000027770

Gene Name

DEAH-box helicase 36

Synonyms

2810407E23Rik, Ddx36, RHAU

MMRRC Submission

038316-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0021 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

62375434-62414425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62385016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 699 (I699V)

Ref Sequence

ENSEMBL: ENSMUSP00000029336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029336]

AlphaFold

Q8VHK9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029336
AA Change: I699V

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770
AA Change: I699V

Domain	Start	End	E-Value	Type
low complexity region	10	45	N/A	INTRINSIC
DEXDc	198	389	1.53e-31	SMART
HELICc	495	600	5.61e-16	SMART
HA2	662	753	2.23e-26	SMART
Pfam:OB_NTP_bind	792	910	1.2e-20	PFAM

Meta Mutation Damage Score

0.1292

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

97% (60/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality around E7.0. Mice homozygous for a conditional allele activated in the hematopoiesis systemexhibit impaired erythropoiesis associated with cell cycle defect. [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
2310016G11Rik	A	G	7: 44,326,620 (GRCm39)		noncoding transcript	Het
Abcc5	T	A	16: 20,197,411 (GRCm39)	K647*	probably null	Het
Aplp1	A	G	7: 30,135,241 (GRCm39)		probably benign	Het
Arhgef25	A	G	10: 127,025,423 (GRCm39)	I43T	probably benign	Het
Brinp3	T	G	1: 146,777,189 (GRCm39)	S545R	probably benign	Het
Btnl1	A	G	17: 34,598,468 (GRCm39)	E28G	probably benign	Het
C5ar2	A	G	7: 15,971,601 (GRCm39)	F109L	probably benign	Het
D630045J12Rik	G	A	6: 38,160,902 (GRCm39)	Q1081*	probably null	Het
Dnah9	A	G	11: 65,860,805 (GRCm39)	I2855T	probably benign	Het
Dock8	T	C	19: 25,140,411 (GRCm39)	I1317T	probably benign	Het
Galnt11	A	T	5: 25,453,855 (GRCm39)	D27V	probably damaging	Het
Gm5134	T	A	10: 75,829,718 (GRCm39)	C335S	probably damaging	Het
Hdhd2	A	T	18: 77,058,311 (GRCm39)	K227N	probably damaging	Het
Impg1	A	T	9: 80,317,479 (GRCm39)	L36Q	probably damaging	Het
Krtcap3	A	G	5: 31,410,303 (GRCm39)	H227R	probably benign	Het
Lrrc7	A	G	3: 157,866,298 (GRCm39)	Y1148H	probably damaging	Het
Map2k4	A	G	11: 65,603,110 (GRCm39)	I174T	probably damaging	Het
Mef2c	C	A	13: 83,804,359 (GRCm39)	L282M	probably damaging	Het
Nkapd1	A	C	9: 50,521,725 (GRCm39)	D65E	probably damaging	Het
Nqo2	T	C	13: 34,165,490 (GRCm39)	I129T	probably benign	Het
Pdgfrb	T	A	18: 61,197,998 (GRCm39)		probably benign	Het
Phf7	C	T	14: 30,960,443 (GRCm39)		probably benign	Het
Plac8	T	A	5: 100,704,434 (GRCm39)	T88S	probably benign	Het
Pou2f1	G	A	1: 165,703,587 (GRCm39)	T654M	probably damaging	Het
Ptprk	T	A	10: 28,468,891 (GRCm39)	V1425E	probably damaging	Het
Saal1	A	T	7: 46,342,316 (GRCm39)	S376T	probably damaging	Het
Scart2	G	A	7: 139,876,310 (GRCm39)	R594H	probably benign	Het
Serpini1	T	C	3: 75,526,620 (GRCm39)	Y291H	probably damaging	Het
Siah2	T	C	3: 58,583,713 (GRCm39)	H191R	probably benign	Het
Spaca6	T	A	17: 18,058,498 (GRCm39)	Y39*	probably null	Het
Tbc1d10a	T	C	11: 4,163,680 (GRCm39)	C277R	probably damaging	Het
Trim45	A	T	3: 100,832,736 (GRCm39)	D323V	probably damaging	Het
Trim55	A	C	3: 19,698,866 (GRCm39)	M32L	probably benign	Het
Unc5b	T	C	10: 60,614,698 (GRCm39)	T200A	probably benign	Het
Uqcc4	A	G	17: 25,403,957 (GRCm39)	E99G	possibly damaging	Het
V1rd19	A	T	7: 23,703,029 (GRCm39)	D165V	probably damaging	Het

Other mutations in Dhx36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Dhx36	APN	3	62,377,979 (GRCm39)	utr 3 prime	probably benign
IGL00538:Dhx36	APN	3	62,408,466 (GRCm39)	missense	probably benign	0.04
IGL00706:Dhx36	APN	3	62,404,263 (GRCm39)	missense	probably damaging	1.00
IGL02040:Dhx36	APN	3	62,408,436 (GRCm39)	missense	probably benign
IGL02141:Dhx36	APN	3	62,401,310 (GRCm39)	missense	probably benign	0.25
IGL02514:Dhx36	APN	3	62,408,319 (GRCm39)	missense	possibly damaging	0.63
IGL02540:Dhx36	APN	3	62,414,309 (GRCm39)	missense	probably benign	0.07
IGL02629:Dhx36	APN	3	62,414,155 (GRCm39)	missense	probably benign	0.01
IGL02858:Dhx36	APN	3	62,384,797 (GRCm39)	splice site	probably benign
IGL03305:Dhx36	APN	3	62,408,257 (GRCm39)	nonsense	probably null
bundeswehr	UTSW	3	62,386,747 (GRCm39)	missense	probably benign
R0002:Dhx36	UTSW	3	62,388,260 (GRCm39)	missense	probably damaging	1.00
R0002:Dhx36	UTSW	3	62,388,260 (GRCm39)	missense	probably damaging	1.00
R0021:Dhx36	UTSW	3	62,385,016 (GRCm39)	missense	possibly damaging	0.66
R0671:Dhx36	UTSW	3	62,401,162 (GRCm39)	missense	possibly damaging	0.96
R0735:Dhx36	UTSW	3	62,380,150 (GRCm39)	missense	probably benign	0.00
R0782:Dhx36	UTSW	3	62,414,135 (GRCm39)	splice site	probably benign
R1725:Dhx36	UTSW	3	62,414,360 (GRCm39)	start codon destroyed	probably benign	0.01
R1951:Dhx36	UTSW	3	62,391,694 (GRCm39)	missense	probably damaging	0.99
R1959:Dhx36	UTSW	3	62,386,806 (GRCm39)	missense	probably benign	0.01
R2257:Dhx36	UTSW	3	62,385,064 (GRCm39)	missense	probably damaging	1.00
R2397:Dhx36	UTSW	3	62,405,518 (GRCm39)	missense	probably benign	0.00
R2484:Dhx36	UTSW	3	62,380,236 (GRCm39)	missense	probably damaging	0.96
R2973:Dhx36	UTSW	3	62,402,919 (GRCm39)	missense	possibly damaging	0.56
R2973:Dhx36	UTSW	3	62,402,916 (GRCm39)	missense	probably benign	0.00
R3617:Dhx36	UTSW	3	62,394,481 (GRCm39)	missense	probably benign	0.01
R3617:Dhx36	UTSW	3	62,379,428 (GRCm39)	missense	possibly damaging	0.96
R3725:Dhx36	UTSW	3	62,395,643 (GRCm39)	splice site	probably benign
R3898:Dhx36	UTSW	3	62,399,790 (GRCm39)	missense	probably damaging	0.98
R4332:Dhx36	UTSW	3	62,392,412 (GRCm39)	missense	probably damaging	1.00
R4359:Dhx36	UTSW	3	62,382,699 (GRCm39)	missense	probably benign	0.05
R4493:Dhx36	UTSW	3	62,395,925 (GRCm39)	intron	probably benign
R4652:Dhx36	UTSW	3	62,408,419 (GRCm39)	missense	probably benign	0.01
R4866:Dhx36	UTSW	3	62,380,198 (GRCm39)	missense	probably damaging	1.00
R4884:Dhx36	UTSW	3	62,391,681 (GRCm39)	missense	probably damaging	1.00
R4960:Dhx36	UTSW	3	62,404,280 (GRCm39)	missense	probably damaging	1.00
R5083:Dhx36	UTSW	3	62,379,420 (GRCm39)	missense	probably benign	0.17
R5162:Dhx36	UTSW	3	62,401,201 (GRCm39)	missense	probably damaging	1.00
R5815:Dhx36	UTSW	3	62,401,176 (GRCm39)	missense	probably damaging	1.00
R6090:Dhx36	UTSW	3	62,404,241 (GRCm39)	missense	probably damaging	0.98
R6392:Dhx36	UTSW	3	62,401,790 (GRCm39)	missense	probably benign	0.00
R6433:Dhx36	UTSW	3	62,392,395 (GRCm39)	missense	probably damaging	1.00
R6504:Dhx36	UTSW	3	62,396,060 (GRCm39)	missense	probably benign
R6615:Dhx36	UTSW	3	62,396,338 (GRCm39)	missense	probably benign
R6672:Dhx36	UTSW	3	62,408,300 (GRCm39)	missense	probably benign	0.00
R6672:Dhx36	UTSW	3	62,402,957 (GRCm39)	missense	probably damaging	1.00
R7172:Dhx36	UTSW	3	62,408,436 (GRCm39)	missense	probably benign
R7302:Dhx36	UTSW	3	62,386,814 (GRCm39)	missense	probably benign
R7487:Dhx36	UTSW	3	62,391,623 (GRCm39)	missense	possibly damaging	0.91
R7515:Dhx36	UTSW	3	62,379,508 (GRCm39)	missense	probably benign	0.45
R7531:Dhx36	UTSW	3	62,392,389 (GRCm39)	missense	probably damaging	1.00
R7579:Dhx36	UTSW	3	62,388,294 (GRCm39)	missense	possibly damaging	0.64
R7726:Dhx36	UTSW	3	62,396,389 (GRCm39)	missense	probably benign	0.01
R7874:Dhx36	UTSW	3	62,396,052 (GRCm39)	missense	probably benign
R8056:Dhx36	UTSW	3	62,396,012 (GRCm39)	missense	possibly damaging	0.93
R8226:Dhx36	UTSW	3	62,377,991 (GRCm39)	missense	probably benign	0.01
R8361:Dhx36	UTSW	3	62,388,221 (GRCm39)	critical splice donor site	probably null
R8529:Dhx36	UTSW	3	62,414,277 (GRCm39)	small deletion	probably benign
R8737:Dhx36	UTSW	3	62,386,747 (GRCm39)	missense	probably benign
R8947:Dhx36	UTSW	3	62,380,387 (GRCm39)	missense	probably benign
R9098:Dhx36	UTSW	3	62,414,142 (GRCm39)	missense	probably benign	0.00
R9098:Dhx36	UTSW	3	62,414,141 (GRCm39)	nonsense	probably null
R9209:Dhx36	UTSW	3	62,378,895 (GRCm39)	missense	probably benign	0.21
R9718:Dhx36	UTSW	3	62,379,466 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GGGCAGACTATCATGAAGGTAAGGCA -3'
(R):5'- GGGTTTGAGAGAATGAATAGTGGCCTG -3'

Sequencing Primer
(F):5'- GCATTCACAACTGTCAGGTG -3'
(R):5'- GGCCTGTATGTTTACAGCTAAC -3'

Posted On

2013-08-06