Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Dhx34'

93071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhx34

Ensembl Gene

ENSMUSG00000006019

Gene Name

DExH-box helicase 34

Synonyms

Ddx34, 1200013B07Rik, 1810012L18Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.419) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

15931145-15956005 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 15939398 bp (GRCm39)

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: 28,604,109 (GRCm39)	I384N	probably damaging	Het
Adsl	G	T	15: 80,832,901 (GRCm39)	Q51H	probably null	Het
Apcdd1	A	G	18: 63,070,357 (GRCm39)	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,394,580 (GRCm39)	R155*	probably null	Het
Atp9b	T	C	18: 80,799,670 (GRCm39)	E823G	probably benign	Het
Bmp1	A	G	14: 70,729,901 (GRCm39)	W468R	probably damaging	Het
C6	A	G	15: 4,789,399 (GRCm39)	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,824,078 (GRCm39)	T1392A	probably benign	Het
Dock1	A	T	7: 134,739,542 (GRCm39)		probably null	Het
Dpp7	T	C	2: 25,244,625 (GRCm39)	N252S	probably benign	Het
Dyrk2	A	G	10: 118,696,412 (GRCm39)	V282A	probably damaging	Het
Edrf1	T	C	7: 133,252,254 (GRCm39)	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724 (GRCm39)	V150A	probably benign	Het
Fam170a	A	T	18: 50,414,734 (GRCm39)	M127L	possibly damaging	Het
Gabrg1	T	A	5: 70,934,548 (GRCm39)	T277S	probably damaging	Het
Galntl5	T	C	5: 25,394,823 (GRCm39)		probably benign	Het
Gbp2b	A	G	3: 142,304,073 (GRCm39)	N56S	probably damaging	Het
Gfm2	T	A	13: 97,286,917 (GRCm39)	V172E	probably damaging	Het
Gm10419	T	C	5: 108,520,224 (GRCm39)		probably benign	Het
Gm7293	A	G	9: 51,534,906 (GRCm39)		noncoding transcript	Het
Gstm3	T	C	3: 107,874,949 (GRCm39)	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,413,856 (GRCm39)	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,231,353 (GRCm39)		probably benign	Het
Ighv7-1	T	A	12: 113,860,123 (GRCm39)	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,346,409 (GRCm39)	L1009P	probably damaging	Het
Kif1a	A	G	1: 92,967,575 (GRCm39)	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,081,237 (GRCm39)	D232E	possibly damaging	Het
Klb	G	A	5: 65,533,022 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,051,489 (GRCm39)	A421V	probably benign	Het
Mdga1	G	A	17: 30,058,845 (GRCm39)	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,199,739 (GRCm39)		probably benign	Het
Myo18b	T	A	5: 112,988,495 (GRCm39)	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,437,946 (GRCm39)	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,440,204 (GRCm39)	L594I	probably damaging	Het
Notch2	C	T	3: 98,053,376 (GRCm39)	T2013I	probably damaging	Het
Or2ah1	A	T	2: 85,653,332 (GRCm39)	T6S	probably benign	Het
Or2y3	G	A	17: 38,392,994 (GRCm39)	L292F	possibly damaging	Het
Or52s1	C	A	7: 102,861,384 (GRCm39)	R95S	probably benign	Het
Or6c216	A	G	10: 129,678,479 (GRCm39)	L144P	probably benign	Het
Or7g27	T	C	9: 19,250,260 (GRCm39)	F168S	probably damaging	Het
Panx3	T	C	9: 37,575,352 (GRCm39)	D170G	probably damaging	Het
Pclo	A	G	5: 14,590,048 (GRCm39)	S783G	unknown	Het
Pde3b	T	A	7: 114,126,136 (GRCm39)	L790*	probably null	Het
Pik3r2	T	C	8: 71,224,992 (GRCm39)		probably benign	Het
Rassf4	A	G	6: 116,618,651 (GRCm39)	F211L	probably damaging	Het
Rbl2	C	T	8: 91,833,066 (GRCm39)	P666S	probably benign	Het
Rnf123	A	G	9: 107,935,437 (GRCm39)	F979L	probably damaging	Het
Rock2	T	A	12: 17,015,172 (GRCm39)	D788E	probably benign	Het
Serpina3b	A	G	12: 104,099,216 (GRCm39)	T244A	probably benign	Het
Setd1b	T	C	5: 123,286,576 (GRCm39)	S541P	unknown	Het
Slc12a4	T	C	8: 106,687,339 (GRCm39)	D60G	possibly damaging	Het
Stac2	T	C	11: 97,932,180 (GRCm39)	E241G	probably benign	Het
Tafa3	C	T	3: 104,680,395 (GRCm39)	V75M	probably damaging	Het
Tas2r115	A	G	6: 132,714,592 (GRCm39)	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,205,946 (GRCm39)	F450I	probably benign	Het
Txnl1	A	T	18: 63,807,262 (GRCm39)	I198N	probably damaging	Het
Ubr2	A	T	17: 47,267,580 (GRCm39)	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,287,759 (GRCm39)	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066 (GRCm39)	T3623I	probably damaging	Het
Usp13	T	A	3: 32,973,213 (GRCm39)	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,402,373 (GRCm39)	T203S	probably damaging	Het
Vwf	T	A	6: 125,622,699 (GRCm39)	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,732 (GRCm39)	H676R	probably benign	Het

Other mutations in Dhx34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Dhx34	APN	7	15,933,751 (GRCm39)	missense	probably damaging	1.00
IGL01090:Dhx34	APN	7	15,950,181 (GRCm39)	missense	probably damaging	1.00
IGL01397:Dhx34	APN	7	15,944,468 (GRCm39)	missense	probably damaging	1.00
IGL01684:Dhx34	APN	7	15,937,204 (GRCm39)	missense	probably damaging	1.00
IGL02147:Dhx34	APN	7	15,937,928 (GRCm39)	missense	probably benign	0.01
IGL02223:Dhx34	APN	7	15,932,584 (GRCm39)	missense	probably benign	0.10
R0255:Dhx34	UTSW	7	15,939,917 (GRCm39)	missense	probably benign	0.32
R0514:Dhx34	UTSW	7	15,944,462 (GRCm39)	missense	probably benign	0.02
R0919:Dhx34	UTSW	7	15,935,883 (GRCm39)	missense	probably damaging	0.99
R1075:Dhx34	UTSW	7	15,952,274 (GRCm39)	missense	probably benign	0.06
R1077:Dhx34	UTSW	7	15,952,293 (GRCm39)	missense	probably damaging	0.97
R4197:Dhx34	UTSW	7	15,937,651 (GRCm39)	missense	probably damaging	1.00
R4721:Dhx34	UTSW	7	15,931,307 (GRCm39)	missense	possibly damaging	0.83
R4856:Dhx34	UTSW	7	15,949,367 (GRCm39)	missense	possibly damaging	0.94
R4868:Dhx34	UTSW	7	15,933,727 (GRCm39)	missense	probably benign	0.10
R5134:Dhx34	UTSW	7	15,952,175 (GRCm39)	missense	possibly damaging	0.57
R5180:Dhx34	UTSW	7	15,939,405 (GRCm39)	nonsense	probably null
R5560:Dhx34	UTSW	7	15,952,466 (GRCm39)	missense	probably benign	0.34
R5588:Dhx34	UTSW	7	15,932,825 (GRCm39)	missense	probably damaging	0.99
R6981:Dhx34	UTSW	7	15,949,255 (GRCm39)	missense	possibly damaging	0.87
R6994:Dhx34	UTSW	7	15,937,799 (GRCm39)	missense	probably benign	0.04
R7226:Dhx34	UTSW	7	15,932,801 (GRCm39)	missense	probably damaging	1.00
R7262:Dhx34	UTSW	7	15,937,623 (GRCm39)	missense	probably benign	0.01
R7288:Dhx34	UTSW	7	15,949,361 (GRCm39)	missense	probably benign	0.08
R7381:Dhx34	UTSW	7	15,949,373 (GRCm39)	missense	probably benign	0.00
R7469:Dhx34	UTSW	7	15,950,364 (GRCm39)	missense	probably benign	0.00
R7709:Dhx34	UTSW	7	15,946,789 (GRCm39)	missense	possibly damaging	0.55
R7862:Dhx34	UTSW	7	15,944,448 (GRCm39)	missense	probably damaging	0.98
R8495:Dhx34	UTSW	7	15,952,472 (GRCm39)	missense	probably benign	0.01
R8885:Dhx34	UTSW	7	15,950,376 (GRCm39)	missense	probably damaging	1.00
R9246:Dhx34	UTSW	7	15,937,162 (GRCm39)	missense	probably damaging	1.00
X0020:Dhx34	UTSW	7	15,939,917 (GRCm39)	missense	probably benign	0.32
Z1176:Dhx34	UTSW	7	15,952,569 (GRCm39)	nonsense	probably null

Posted On

2013-12-09