Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02141:Dhx36'

281566

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 #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

62468013-62507004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62493889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 319 (S319P)

Ref Sequence

ENSEMBL: ENSMUSP00000029336 (fasta)

Gene Model

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

AlphaFold

Q8VHK9

Predicted Effect

probably benign
Transcript: ENSMUST00000029336
AA Change: S319P

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029336
Gene: ENSMUSG00000027770
AA Change: S319P

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,183,465	A188T	probably benign	Het
2310022B05Rik	A	T	8: 124,637,906		probably benign	Het
4931423N10Rik	T	C	2: 23,230,200	F203L	probably damaging	Het
Arntl2	T	A	6: 146,828,095		probably benign	Het
Atf6b	C	A	17: 34,653,277	H539Q	probably benign	Het
Bpifb5	G	T	2: 154,229,557		probably null	Het
Cep89	T	A	7: 35,420,924	M377K	probably damaging	Het
Clpx	G	T	9: 65,312,118		probably null	Het
Cops5	T	C	1: 10,035,117	K47E	probably damaging	Het
Cryba2	T	C	1: 74,892,784	N35S	probably benign	Het
Ddx27	A	G	2: 167,020,523	K162E	possibly damaging	Het
Dram2	A	G	3: 106,571,696		probably benign	Het
Eci2	T	A	13: 34,978,673	T300S	probably benign	Het
Egf	C	A	3: 129,739,982	G70*	probably null	Het
Eif5b	T	C	1: 38,032,322	V444A	probably benign	Het
Elf3	T	C	1: 135,257,707	D23G	possibly damaging	Het
Epb41l4b	A	T	4: 57,103,422		probably null	Het
Fam167a	T	A	14: 63,452,259	S2T	probably benign	Het
Flrt3	A	G	2: 140,660,688	V340A	probably damaging	Het
Gimap3	T	C	6: 48,765,378	E206G	probably benign	Het
Gp6	T	C	7: 4,394,104		probably benign	Het
Gpr158	A	T	2: 21,783,290	M581L	probably damaging	Het
Hapln3	A	G	7: 79,118,145	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,050,713	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,288,362	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,738,121	T926M	probably damaging	Het
Lonp1	A	T	17: 56,615,086	S765T	probably benign	Het
Lpp	C	T	16: 24,761,615	S27F	probably damaging	Het
Lrit2	T	C	14: 37,068,074		probably benign	Het
Luc7l	C	A	17: 26,253,080	T17K	probably damaging	Het
Mroh1	G	T	15: 76,446,599	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,853,367	C1091G	unknown	Het
Mut	A	G	17: 40,938,817	T228A	possibly damaging	Het
Nppb	A	T	4: 147,986,006	I11F	probably benign	Het
Nsf	A	T	11: 103,828,525	D650E	probably benign	Het
Ogdh	A	G	11: 6,355,015	K907E	probably damaging	Het
Olfr1351	A	G	10: 79,017,721	Y133C	probably damaging	Het
Olfr344	A	G	2: 36,568,808	D70G	probably damaging	Het
Olfr362	G	A	2: 37,105,425	S75F	probably benign	Het
Pcnx	A	T	12: 81,860,382	Q4L	possibly damaging	Het
Pgc	T	A	17: 47,726,931	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,246,397	S887T	probably benign	Het
Plec	T	C	15: 76,175,615	D3239G	probably damaging	Het
Pole4	T	C	6: 82,648,034	T116A	probably benign	Het
Prpf8	A	G	11: 75,490,672	N300D	possibly damaging	Het
Rara	T	A	11: 98,968,081	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,318,374	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,402,315	R709Q	probably damaging	Het
Slfn2	C	A	11: 83,069,844	N216K	probably benign	Het
Suox	A	G	10: 128,672,098		probably benign	Het
Tars	T	A	15: 11,391,194	Y283F	probably damaging	Het
Trpm4	A	T	7: 45,318,179		probably null	Het
Ubtd2	A	T	11: 32,499,262	K36N	probably benign	Het
Unkl	T	C	17: 25,229,434	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,137,379	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,081	V948A	probably benign	Het
Zbtb17	A	G	4: 141,464,953	H403R	probably 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
IGL02514:Dhx36	APN	3	62500898	missense	possibly damaging	0.63
IGL02540:Dhx36	APN	3	62506888	missense	probably benign	0.07
IGL02629:Dhx36	APN	3	62506734	missense	probably benign	0.01
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