Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02629:Dhx36'

301184

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhx36

Ensembl Gene

ENSMUSG00000027770

Gene Name

DEAH (Asp-Glu-Ala-His) box polypeptide 36

Synonyms

2810407E23Rik, Ddx36

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02629

Quality Score

Status

Chromosome

Chromosomal Location

62468013-62507004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62506734 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 69 (E69G)

Ref Sequence

ENSEMBL: ENSMUSP00000029336 (fasta)

Gene Model

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

AlphaFold

Q8VHK9

Predicted Effect

probably benign
Transcript: ENSMUST00000029336
AA Change: E69G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770
AA Change: E69G

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,609,144		probably benign	Het
Aadacl3	A	G	4: 144,463,629	I34T	possibly damaging	Het
Acan	T	A	7: 79,111,979	I1979N	possibly damaging	Het
Ankrd27	A	G	7: 35,625,696	D701G	probably benign	Het
Arhgap31	C	T	16: 38,609,164	G450S	probably benign	Het
Braf	T	C	6: 39,688,299	E45G	possibly damaging	Het
Btnl6	C	T	17: 34,514,468	V178M	probably damaging	Het
Capg	A	T	6: 72,555,754	Q67L	probably benign	Het
Carmil3	A	G	14: 55,499,068	N663S	probably damaging	Het
Casz1	T	A	4: 148,944,391	S1098T	probably benign	Het
Cd55b	A	T	1: 130,419,798		probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cenpf	A	G	1: 189,652,334	L2583P	probably damaging	Het
Clec4a1	A	C	6: 122,932,147		probably null	Het
Corin	T	C	5: 72,332,673	N653S	probably damaging	Het
Dpy19l1	C	A	9: 24,438,713		probably benign	Het
Fam184a	T	C	10: 53,698,811	N234S	possibly damaging	Het
Foxg1	A	G	12: 49,385,548	S355G	probably benign	Het
Fsd1l	T	C	4: 53,686,417	S277P	probably damaging	Het
Hadh	T	A	3: 131,235,635	D245V	probably damaging	Het
Jag2	G	A	12: 112,914,514		probably benign	Het
Klhl18	A	T	9: 110,429,938		probably benign	Het
Lmx1a	G	T	1: 167,844,623		probably benign	Het
Mcoln2	A	G	3: 146,170,044	Y89C	probably benign	Het
Mug1	A	T	6: 121,840,065	Y31F	possibly damaging	Het
Ndufb5	A	G	3: 32,737,199	T32A	probably benign	Het
Nub1	C	T	5: 24,703,464	H404Y	possibly damaging	Het
Nudt6	A	G	3: 37,405,171	Y222H	probably benign	Het
Olfr1269	A	T	2: 90,118,857	L247*	probably null	Het
Pla2g4c	A	T	7: 13,335,377	R159*	probably null	Het
Pnpla7	A	G	2: 25,050,945	D1103G	probably damaging	Het
Pof1b	T	G	X: 112,645,237		probably benign	Het
Prrg2	C	T	7: 45,056,742		probably null	Het
Rab3gap1	A	G	1: 127,909,863	T221A	probably benign	Het
Rfx7	A	G	9: 72,619,259	N1244D	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rnf123	A	T	9: 108,070,789		probably benign	Het
Rnf44	T	G	13: 54,683,062	Q207P	possibly damaging	Het
Serpina3g	A	G	12: 104,241,178	D200G	probably damaging	Het
Slc5a4a	T	A	10: 76,147,579	S17T	unknown	Het
Smc4	G	T	3: 69,025,873	C609F	probably damaging	Het
Sync	T	C	4: 129,293,951	F259L	probably damaging	Het
Tas2r113	T	C	6: 132,893,336	L109P	probably damaging	Het
Tjp2	C	A	19: 24,122,379		probably benign	Het
Tmem30a	C	A	9: 79,776,249		probably benign	Het
Unc80	T	C	1: 66,483,317	V226A	possibly damaging	Het
Upk2	A	T	9: 44,454,139	L44Q	probably damaging	Het
Usp42	T	C	5: 143,723,154	Y203C	possibly damaging	Het
Vmn1r28	A	T	6: 58,265,816	I215F	probably benign	Het
Zswim2	A	G	2: 83,925,209	V116A	possibly damaging	Het

Other mutations in Dhx36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Dhx36	APN	3	62470558	utr 3 prime	probably benign
IGL00538:Dhx36	APN	3	62501045	missense	probably benign	0.04
IGL00706:Dhx36	APN	3	62496842	missense	probably damaging	1.00
IGL02040:Dhx36	APN	3	62501015	missense	probably benign
IGL02141:Dhx36	APN	3	62493889	missense	probably benign	0.25
IGL02514:Dhx36	APN	3	62500898	missense	possibly damaging	0.63
IGL02540:Dhx36	APN	3	62506888	missense	probably benign	0.07
IGL02858:Dhx36	APN	3	62477376	splice site	probably benign
IGL03305:Dhx36	APN	3	62500836	nonsense	probably null
bundeswehr	UTSW	3	62479326	missense	probably benign
R0002:Dhx36	UTSW	3	62480839	missense	probably damaging	1.00
R0002:Dhx36	UTSW	3	62480839	missense	probably damaging	1.00
R0021:Dhx36	UTSW	3	62477595	missense	possibly damaging	0.66
R0021:Dhx36	UTSW	3	62477595	missense	possibly damaging	0.66
R0671:Dhx36	UTSW	3	62493741	missense	possibly damaging	0.96
R0735:Dhx36	UTSW	3	62472729	missense	probably benign	0.00
R0782:Dhx36	UTSW	3	62506714	splice site	probably benign
R1725:Dhx36	UTSW	3	62506939	start codon destroyed	probably benign	0.01
R1951:Dhx36	UTSW	3	62484273	missense	probably damaging	0.99
R1959:Dhx36	UTSW	3	62479385	missense	probably benign	0.01
R2257:Dhx36	UTSW	3	62477643	missense	probably damaging	1.00
R2397:Dhx36	UTSW	3	62498097	missense	probably benign	0.00
R2484:Dhx36	UTSW	3	62472815	missense	probably damaging	0.96
R2973:Dhx36	UTSW	3	62495495	missense	probably benign	0.00
R2973:Dhx36	UTSW	3	62495498	missense	possibly damaging	0.56
R3617:Dhx36	UTSW	3	62472007	missense	possibly damaging	0.96
R3617:Dhx36	UTSW	3	62487060	missense	probably benign	0.01
R3725:Dhx36	UTSW	3	62488222	splice site	probably benign
R3898:Dhx36	UTSW	3	62492369	missense	probably damaging	0.98
R4332:Dhx36	UTSW	3	62484991	missense	probably damaging	1.00
R4359:Dhx36	UTSW	3	62475278	missense	probably benign	0.05
R4493:Dhx36	UTSW	3	62488504	intron	probably benign
R4652:Dhx36	UTSW	3	62500998	missense	probably benign	0.01
R4866:Dhx36	UTSW	3	62472777	missense	probably damaging	1.00
R4884:Dhx36	UTSW	3	62484260	missense	probably damaging	1.00
R4960:Dhx36	UTSW	3	62496859	missense	probably damaging	1.00
R5083:Dhx36	UTSW	3	62471999	missense	probably benign	0.17
R5162:Dhx36	UTSW	3	62493780	missense	probably damaging	1.00
R5815:Dhx36	UTSW	3	62493755	missense	probably damaging	1.00
R6090:Dhx36	UTSW	3	62496820	missense	probably damaging	0.98
R6392:Dhx36	UTSW	3	62494369	missense	probably benign	0.00
R6433:Dhx36	UTSW	3	62484974	missense	probably damaging	1.00
R6504:Dhx36	UTSW	3	62488639	missense	probably benign
R6615:Dhx36	UTSW	3	62488917	missense	probably benign
R6672:Dhx36	UTSW	3	62495536	missense	probably damaging	1.00
R6672:Dhx36	UTSW	3	62500879	missense	probably benign	0.00
R7172:Dhx36	UTSW	3	62501015	missense	probably benign
R7302:Dhx36	UTSW	3	62479393	missense	probably benign
R7487:Dhx36	UTSW	3	62484202	missense	possibly damaging	0.91
R7515:Dhx36	UTSW	3	62472087	missense	probably benign	0.45
R7531:Dhx36	UTSW	3	62484968	missense	probably damaging	1.00
R7579:Dhx36	UTSW	3	62480873	missense	possibly damaging	0.64
R7726:Dhx36	UTSW	3	62488968	missense	probably benign	0.01
R7874:Dhx36	UTSW	3	62488631	missense	probably benign
R8056:Dhx36	UTSW	3	62488591	missense	possibly damaging	0.93
R8226:Dhx36	UTSW	3	62470570	missense	probably benign	0.01
R8361:Dhx36	UTSW	3	62480800	critical splice donor site	probably null
R8529:Dhx36	UTSW	3	62506856	small deletion	probably benign
R8737:Dhx36	UTSW	3	62479326	missense	probably benign
R8947:Dhx36	UTSW	3	62472966	missense	probably benign
R9098:Dhx36	UTSW	3	62506720	nonsense	probably null
R9098:Dhx36	UTSW	3	62506721	missense	probably benign	0.00
R9209:Dhx36	UTSW	3	62471474	missense	probably benign	0.21
R9718:Dhx36	UTSW	3	62472045	missense	possibly damaging	0.90

Posted On

2015-04-16