Mutagenetix > Incidental Mutation

Incidental Mutation 'R0782:Dhx36'

76673

Institutional Source

Beutler Lab

Gene Symbol

Dhx36

Ensembl Gene

ENSMUSG00000027770

Gene Name

DEAH-box helicase 36

Synonyms

2810407E23Rik, Ddx36, RHAU

MMRRC Submission

038962-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0782 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62375434-62414425 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 62414135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000029336 (fasta)

Gene Model

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

AlphaFold

Q8VHK9

Predicted Effect

probably benign
Transcript: ENSMUST00000029336

SMART Domains

Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192223

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.0%
20x: 93.3%

Validation Efficiency

100% (39/39)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	C	T	11: 97,391,380 (GRCm39)	P1299L	possibly damaging	Het
B3glct	C	T	5: 149,650,275 (GRCm39)	T126M	probably damaging	Het
Baz1a	A	T	12: 54,941,273 (GRCm39)	D1492E	probably damaging	Het
Cdc14a	A	G	3: 116,115,785 (GRCm39)	I259T	probably damaging	Het
Cog7	C	A	7: 121,543,020 (GRCm39)	A464S	possibly damaging	Het
Csf2rb2	C	A	15: 78,170,951 (GRCm39)	K368N	probably damaging	Het
Cspp1	T	A	1: 10,200,199 (GRCm39)		probably benign	Het
Cyp2c37	A	G	19: 39,982,269 (GRCm39)	H90R	probably benign	Het
Dcst1	A	G	3: 89,264,807 (GRCm39)	F314L	possibly damaging	Het
Efr3b	G	A	12: 4,034,686 (GRCm39)		probably benign	Het
Faap100	A	G	11: 120,267,530 (GRCm39)		probably null	Het
Hmcn1	A	G	1: 150,629,416 (GRCm39)	I947T	possibly damaging	Het
Ilkap	C	T	1: 91,306,272 (GRCm39)	R103H	probably damaging	Het
Impa1	A	T	3: 10,387,956 (GRCm39)		probably benign	Het
Kbtbd8	C	T	6: 95,099,213 (GRCm39)	R164C	probably damaging	Het
Lactb2	T	G	1: 13,717,675 (GRCm39)	N116T	probably benign	Het
Myh8	T	A	11: 67,180,580 (GRCm39)	N605K	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Napa	T	C	7: 15,849,192 (GRCm39)	M244T	probably benign	Het
Nckap5	G	A	1: 125,909,278 (GRCm39)	S1719F	probably damaging	Het
Nfe2l2	T	C	2: 75,507,177 (GRCm39)	I308V	probably benign	Het
Or51af1	C	A	7: 103,141,722 (GRCm39)	R121L	probably damaging	Het
Ppfia2	C	T	10: 106,763,592 (GRCm39)	S1195L	probably benign	Het
Rasa4	A	G	5: 136,133,386 (GRCm39)	K615R	possibly damaging	Het
Rnf216	T	C	5: 143,054,647 (GRCm39)	K634E	possibly damaging	Het
Samd3	A	G	10: 26,146,138 (GRCm39)	T388A	probably damaging	Het
Serping1	G	A	2: 84,597,790 (GRCm39)	P364S	probably damaging	Het
Slc39a10	T	C	1: 46,875,156 (GRCm39)	S49G	probably damaging	Het
Smc2	C	A	4: 52,469,799 (GRCm39)	T762K	probably benign	Het
Smpd1	T	A	7: 105,204,550 (GRCm39)	V143E	possibly damaging	Het
Synj2bp	A	T	12: 81,579,507 (GRCm39)	L16Q	probably damaging	Het
Tcof1	G	A	18: 60,949,352 (GRCm39)	R1188W	probably damaging	Het
Unc80	A	G	1: 66,661,740 (GRCm39)	R1722G	possibly damaging	Het
Vamp5	T	C	6: 72,346,453 (GRCm39)	S48G	probably damaging	Het
Vps13d	G	A	4: 144,853,195 (GRCm39)		probably benign	Het
Zfp292	T	C	4: 34,839,382 (GRCm39)	N161S	possibly damaging	Het
Zfp831	A	G	2: 174,488,423 (GRCm39)	T1033A	probably benign	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
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
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'- ACCCTCAGTTCAGTTCTCAAGTCCG -3'
(R):5'- TGCTTGTGACACTCAACGTCCC -3'

Sequencing Primer
(F):5'- GTTCTCAAGTCCGTAAACAGAG -3'
(R):5'- CTACGACTATCATCAGAGCTGGAG -3'

Posted On

2013-10-16