Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00495:Dhx36'

27048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhx36

Ensembl Gene

ENSMUSG00000027770

Gene Name

DEAH-box helicase 36

Synonyms

2810407E23Rik, Ddx36, RHAU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00495

Quality Score

Status

Chromosome

Chromosomal Location

62375434-62414425 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

G to A at 62377979 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: ENSMUST00000160858

Coding Region Coverage

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankk1	T	C	9: 49,327,143 (GRCm39)	T679A	probably benign	Het
Bhlhe40	T	A	6: 108,638,139 (GRCm39)	M33K	probably benign	Het
Cacna2d1	T	C	5: 16,575,607 (GRCm39)	S1059P	probably benign	Het
Cdkn1a	C	A	17: 29,317,494 (GRCm39)	A38E	possibly damaging	Het
Chrm2	A	T	6: 36,500,355 (GRCm39)	I71F	possibly damaging	Het
Cntnap5c	A	G	17: 58,469,272 (GRCm39)	Q618R	probably benign	Het
Cog5	T	A	12: 31,887,308 (GRCm39)	N476K	probably benign	Het
Dnajb8	G	T	6: 88,199,836 (GRCm39)	R124L	possibly damaging	Het
Dnajc16	A	T	4: 141,490,874 (GRCm39)		probably null	Het
Dzip1	T	C	14: 119,120,806 (GRCm39)	D717G	probably benign	Het
Eps15	G	T	4: 109,166,346 (GRCm39)	V80L	probably damaging	Het
Fmn1	G	A	2: 113,274,812 (GRCm39)		probably benign	Het
Gm12185	A	G	11: 48,798,688 (GRCm39)	S602P	probably damaging	Het
Gm28539	T	G	16: 18,773,530 (GRCm39)		probably benign	Het
Grm3	T	C	5: 9,562,290 (GRCm39)	N520S	probably benign	Het
Hivep2	A	G	10: 14,017,988 (GRCm39)	N1825S	probably damaging	Het
Igfbp2	A	G	1: 72,888,287 (GRCm39)	H143R	probably benign	Het
Igsf8	T	G	1: 172,145,111 (GRCm39)	V146G	possibly damaging	Het
Kif13b	T	G	14: 64,951,562 (GRCm39)	S68A	probably benign	Het
Lrrc15	T	A	16: 30,092,848 (GRCm39)	I164F	possibly damaging	Het
Mrrf	G	A	2: 36,031,643 (GRCm39)	R53H	possibly damaging	Het
Ms4a6d	G	A	19: 11,579,249 (GRCm39)	T76I	probably damaging	Het
Pkd1l1	T	C	11: 8,818,493 (GRCm39)	R1332G	probably benign	Het
Plekha1	A	G	7: 130,479,569 (GRCm39)	Y29C	probably damaging	Het
Pnliprp1	A	T	19: 58,723,162 (GRCm39)	H221L	probably damaging	Het
Pomt2	T	C	12: 87,171,630 (GRCm39)	D380G	probably damaging	Het
Ppm1f	C	A	16: 16,728,835 (GRCm39)	T79N	possibly damaging	Het
Ppp4r3b	A	C	11: 29,161,782 (GRCm39)	T719P	possibly damaging	Het
Socs4	G	A	14: 47,527,709 (GRCm39)	V215I	probably benign	Het
Spg11	A	G	2: 121,924,937 (GRCm39)		probably null	Het
Stk31	T	A	6: 49,414,377 (GRCm39)	C459S	probably benign	Het
Ttn	A	G	2: 76,539,546 (GRCm39)	V26153A	possibly damaging	Het
Twf1	C	T	15: 94,478,817 (GRCm39)		probably benign	Het
Vrk3	A	T	7: 44,419,071 (GRCm39)	K383M	probably damaging	Het
Wdr83	A	T	8: 85,806,443 (GRCm39)	N118K	probably damaging	Het

Other mutations in Dhx36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-04-17