Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Dhx34'

93071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhx34

Ensembl Gene

ENSMUSG00000006019

Gene Name

DEAH (Asp-Glu-Ala-His) box polypeptide 34

Synonyms

1200013B07Rik, Ddx34, 1810012L18Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

16197147-16222037 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 16205473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 665 (S665Y)

Ref Sequence

ENSEMBL: ENSMUSP00000126915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094816] [ENSMUST00000118795] [ENSMUST00000119102] [ENSMUST00000121123] [ENSMUST00000163968]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000094816
AA Change: S665Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092410
Gene: ENSMUSG00000006019
AA Change: S665Y

Domain	Start	End	E-Value	Type
low complexity region	4	26	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
DEXDc	150	343	7.73e-28	SMART
HELICc	400	498	4.31e-17	SMART
low complexity region	542	553	N/A	INTRINSIC
HA2	558	648	3.35e-21	SMART
Pfam:OB_NTP_bind	687	911	2.6e-24	PFAM
low complexity region	953	971	N/A	INTRINSIC
ZnF_C2H2	1121	1144	7.89e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000118795
AA Change: S665Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112865
Gene: ENSMUSG00000006019
AA Change: S665Y

Domain	Start	End	E-Value	Type
low complexity region	4	26	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
DEXDc	150	343	7.73e-28	SMART
HELICc	400	498	4.31e-17	SMART
low complexity region	542	553	N/A	INTRINSIC
HA2	558	648	3.35e-21	SMART
Pfam:OB_NTP_bind	687	911	7.5e-17	PFAM
low complexity region	953	971	N/A	INTRINSIC
ZnF_C2H2	1121	1144	7.89e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119102
AA Change: S665Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113393
Gene: ENSMUSG00000006019
AA Change: S665Y

Domain	Start	End	E-Value	Type
low complexity region	4	26	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
DEXDc	150	343	7.73e-28	SMART
HELICc	400	498	4.31e-17	SMART
low complexity region	542	553	N/A	INTRINSIC
HA2	558	648	3.35e-21	SMART
Pfam:OB_NTP_bind	687	911	7.5e-17	PFAM
low complexity region	953	971	N/A	INTRINSIC
ZnF_C2H2	1121	1144	7.89e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121123
AA Change: S665Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113673
Gene: ENSMUSG00000006019
AA Change: S665Y

Domain	Start	End	E-Value	Type
low complexity region	4	26	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
DEXDc	150	343	7.73e-28	SMART
HELICc	400	498	4.31e-17	SMART
low complexity region	542	553	N/A	INTRINSIC
HA2	558	648	3.35e-21	SMART
Pfam:OB_NTP_bind	687	911	7.5e-17	PFAM
low complexity region	953	971	N/A	INTRINSIC
ZnF_C2H2	1121	1144	7.89e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133518

Predicted Effect

probably damaging
Transcript: ENSMUST00000163968
AA Change: S665Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126915
Gene: ENSMUSG00000006019
AA Change: S665Y

Domain	Start	End	E-Value	Type
low complexity region	4	26	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
DEXDc	150	343	7.73e-28	SMART
HELICc	400	498	4.31e-17	SMART
low complexity region	542	553	N/A	INTRINSIC
HA2	558	648	3.35e-21	SMART
Pfam:OB_NTP_bind	687	911	6.4e-18	PFAM
low complexity region	953	971	N/A	INTRINSIC
ZnF_C2H2	1121	1144	7.89e0	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,904,684	I384N	probably damaging	Het
Adsl	G	T	15: 80,948,700	Q51H	probably null	Het
Apcdd1	A	G	18: 62,937,286	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,744,832	R155*	probably null	Het
Atp9b	T	C	18: 80,756,455	E823G	probably benign	Het
Bmp1	A	G	14: 70,492,461	W468R	probably damaging	Het
C6	A	G	15: 4,759,917	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,846,710	T1392A	probably benign	Het
Dock1	A	T	7: 135,137,813		probably null	Het
Dpp7	T	C	2: 25,354,613	N252S	probably benign	Het
Dyrk2	A	G	10: 118,860,507	V282A	probably damaging	Het
Edrf1	T	C	7: 133,650,525	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724	V150A	probably benign	Het
Fam170a	A	T	18: 50,281,667	M127L	possibly damaging	Het
Fam19a3	C	T	3: 104,773,079	V75M	probably damaging	Het
Gabrg1	T	A	5: 70,777,205	T277S	probably damaging	Het
Galntl5	T	C	5: 25,189,825		probably benign	Het
Gbp2b	A	G	3: 142,598,312	N56S	probably damaging	Het
Gfm2	T	A	13: 97,150,409	V172E	probably damaging	Het
Gm10419	T	C	5: 108,372,358		probably benign	Het
Gm7293	A	G	9: 51,623,606		noncoding transcript	Het
Gstm3	T	C	3: 107,967,633	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,686,545	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,267,733		probably benign	Het
Ighv7-1	T	A	12: 113,896,503	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,455,583	L1009P	probably damaging	Het
Kif1a	A	G	1: 93,039,853	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,245,368	D232E	possibly damaging	Het
Klb	G	A	5: 65,375,679		probably null	Het
Lrriq1	G	A	10: 103,215,628	A421V	probably benign	Het
Mdga1	G	A	17: 29,839,871	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,550,532		probably benign	Het
Myo18b	T	A	5: 112,840,629	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,547,120	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,549,378	L594I	probably damaging	Het
Notch2	C	T	3: 98,146,060	T2013I	probably damaging	Het
Olfr1018	A	T	2: 85,822,988	T6S	probably benign	Het
Olfr131	G	A	17: 38,082,103	L292F	possibly damaging	Het
Olfr593	C	A	7: 103,212,177	R95S	probably benign	Het
Olfr812	A	G	10: 129,842,610	L144P	probably benign	Het
Olfr845	T	C	9: 19,338,964	F168S	probably damaging	Het
Panx3	T	C	9: 37,664,056	D170G	probably damaging	Het
Pclo	A	G	5: 14,540,034	S783G	unknown	Het
Pde3b	T	A	7: 114,526,901	L790*	probably null	Het
Pik3r2	T	C	8: 70,772,348		probably benign	Het
Rassf4	A	G	6: 116,641,690	F211L	probably damaging	Het
Rbl2	C	T	8: 91,106,438	P666S	probably benign	Het
Rnf123	A	G	9: 108,058,238	F979L	probably damaging	Het
Rock2	T	A	12: 16,965,171	D788E	probably benign	Het
Serpina3b	A	G	12: 104,132,957	T244A	probably benign	Het
Setd1b	T	C	5: 123,148,513	S541P	unknown	Het
Slc12a4	T	C	8: 105,960,707	D60G	possibly damaging	Het
Stac2	T	C	11: 98,041,354	E241G	probably benign	Het
Tas2r115	A	G	6: 132,737,629	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,370,085	F450I	probably benign	Het
Txnl1	A	T	18: 63,674,191	I198N	probably damaging	Het
Ubr2	A	T	17: 46,956,654	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,139,900	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066	T3623I	probably damaging	Het
Usp13	T	A	3: 32,919,064	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,702,948	T203S	probably damaging	Het
Vwf	T	A	6: 125,645,736	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,646	H676R	probably benign	Het

Other mutations in Dhx34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Dhx34	APN	7	16199826	missense	probably damaging	1.00
IGL01090:Dhx34	APN	7	16216256	missense	probably damaging	1.00
IGL01397:Dhx34	APN	7	16210543	missense	probably damaging	1.00
IGL01684:Dhx34	APN	7	16203279	missense	probably damaging	1.00
IGL02147:Dhx34	APN	7	16204003	missense	probably benign	0.01
IGL02223:Dhx34	APN	7	16198659	missense	probably benign	0.10
R0255:Dhx34	UTSW	7	16205992	missense	probably benign	0.32
R0514:Dhx34	UTSW	7	16210537	missense	probably benign	0.02
R0919:Dhx34	UTSW	7	16201958	missense	probably damaging	0.99
R1075:Dhx34	UTSW	7	16218349	missense	probably benign	0.06
R1077:Dhx34	UTSW	7	16218368	missense	probably damaging	0.97
R4197:Dhx34	UTSW	7	16203726	missense	probably damaging	1.00
R4721:Dhx34	UTSW	7	16197382	missense	possibly damaging	0.83
R4856:Dhx34	UTSW	7	16215442	missense	possibly damaging	0.94
R4868:Dhx34	UTSW	7	16199802	missense	probably benign	0.10
R5134:Dhx34	UTSW	7	16218250	missense	possibly damaging	0.57
R5180:Dhx34	UTSW	7	16205480	nonsense	probably null
R5560:Dhx34	UTSW	7	16218541	missense	probably benign	0.34
R5588:Dhx34	UTSW	7	16198900	missense	probably damaging	0.99
R6981:Dhx34	UTSW	7	16215330	missense	possibly damaging	0.87
R6994:Dhx34	UTSW	7	16203874	missense	probably benign	0.04
R7226:Dhx34	UTSW	7	16198876	missense	probably damaging	1.00
R7262:Dhx34	UTSW	7	16203698	missense	probably benign	0.01
R7288:Dhx34	UTSW	7	16215436	missense	probably benign	0.08
R7381:Dhx34	UTSW	7	16215448	missense	probably benign	0.00
R7469:Dhx34	UTSW	7	16216439	missense	probably benign	0.00
R7709:Dhx34	UTSW	7	16212864	missense	possibly damaging	0.55
R7862:Dhx34	UTSW	7	16210523	missense	probably damaging	0.98
R8495:Dhx34	UTSW	7	16218547	missense	probably benign	0.01
R8885:Dhx34	UTSW	7	16216451	missense	probably damaging	1.00
R9246:Dhx34	UTSW	7	16203237	missense	probably damaging	1.00
X0020:Dhx34	UTSW	7	16205992	missense	probably benign	0.32
Z1176:Dhx34	UTSW	7	16218644	nonsense	probably null

Posted On

2013-12-09