Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01444:Dhx32'

84351

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhx32

Ensembl Gene

ENSMUSG00000030986

Gene Name

DEAH (Asp-Glu-Ala-His) box polypeptide 32

Synonyms

Ddx32

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL01444

Quality Score

Status

Chromosome

Chromosomal Location

133720942-133782726 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133748977 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 121 (I121M)

Ref Sequence

ENSEMBL: ENSMUSP00000066067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033290] [ENSMUST00000063669] [ENSMUST00000106139] [ENSMUST00000130182] [ENSMUST00000149876]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033290
AA Change: I121M

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033290
Gene: ENSMUSG00000030986
AA Change: I121M

Domain	Start	End	E-Value	Type
Blast:DEXDc	67	253	1e-107	BLAST
SCOP:d1jpna2	77	289	9e-21	SMART
HA2	465	556	3.35e-21	SMART
Pfam:OB_NTP_bind	597	704	1.7e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063669
AA Change: I121M

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066067
Gene: ENSMUSG00000030986
AA Change: I121M

Domain	Start	End	E-Value	Type
Blast:DEXDc	67	253	1e-107	BLAST
SCOP:d1jpna2	77	289	9e-21	SMART
HA2	465	556	3.35e-21	SMART
Pfam:OB_NTP_bind	594	704	4.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106139

SMART Domains

Protein: ENSMUSP00000101745
Gene: ENSMUSG00000030986

Domain	Start	End	E-Value	Type
Blast:DEXDc	1	113	5e-54	BLAST
SCOP:d1jpna2	1	149	6e-11	SMART
HA2	325	416	3.35e-21	SMART
Pfam:OB_NTP_bind	457	564	1.2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130182

SMART Domains

Protein: ENSMUSP00000115677
Gene: ENSMUSG00000030986

Domain	Start	End	E-Value	Type
PDB:3KX2\|A	42	106	8e-11	PDB
Blast:DEXDc	67	110	2e-22	BLAST
SCOP:d1jpna2	77	109	1e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146211

Predicted Effect

probably benign
Transcript: ENSMUST00000149876
AA Change: I106M

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000121789
Gene: ENSMUSG00000030986
AA Change: I106M

Domain	Start	End	E-Value	Type
PDB:3KX2\|A	42	142	7e-19	PDB
Blast:DEXDc	67	143	6e-42	BLAST
SCOP:d1a1va1	82	143	3e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211450

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. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	G	11: 23,620,225		probably benign	Het
Adad1	A	T	3: 37,092,034	N517I	probably damaging	Het
Adam25	G	A	8: 40,754,921	R408H	probably benign	Het
Ang	C	A	14: 51,101,667	Y88*	probably null	Het
Ankrd42	T	C	7: 92,610,585	T327A	probably damaging	Het
Birc6	A	G	17: 74,631,687	D2696G	probably damaging	Het
Chd3	G	A	11: 69,348,742	T1717M	probably benign	Het
Csmd1	T	A	8: 16,200,055	M970L	probably benign	Het
Dnah11	G	A	12: 118,020,232	S2506F	possibly damaging	Het
Dscam	T	A	16: 96,673,709	I1218F	possibly damaging	Het
Duox1	T	C	2: 122,340,090	L1197P	probably damaging	Het
Eps8l2	T	C	7: 141,361,375		probably benign	Het
Exoc3	T	C	13: 74,206,935	K49R	probably damaging	Het
Exoc8	T	A	8: 124,895,841	T596S	possibly damaging	Het
F13a1	C	T	13: 36,918,577	G391R	probably null	Het
Fam35a	C	A	14: 34,237,557	V823F	probably damaging	Het
Fat3	A	T	9: 15,998,848	S1953T	probably damaging	Het
Gls2	C	A	10: 128,201,347	N252K	probably damaging	Het
Gm5346	A	T	8: 43,626,433	D251E	probably benign	Het
Haus2	G	A	2: 120,615,942	R115K	probably benign	Het
Ift122	A	G	6: 115,884,379	K262E	probably benign	Het
Islr2	C	T	9: 58,198,378	C533Y	probably damaging	Het
Lrp2	A	T	2: 69,443,716	F3997I	possibly damaging	Het
Nt5c1a	C	T	4: 123,216,169	R354W	probably damaging	Het
Olfr776	T	A	10: 129,261,335	C125S	probably damaging	Het
Pcolce	A	T	5: 137,607,476	S200R	probably damaging	Het
Plec	A	G	15: 76,179,297	V2213A	possibly damaging	Het
Prmt3	T	A	7: 49,780,372	D74E	probably benign	Het
Ptk7	A	G	17: 46,565,387	F1046S	probably damaging	Het
Ranbp2	T	C	10: 58,475,300	Y887H	possibly damaging	Het
Sez6l2	G	A	7: 126,961,883	E447K	possibly damaging	Het
Snrnp70	C	T	7: 45,387,236		probably null	Het
Timm10	T	A	2: 84,829,864	V49E	probably damaging	Het
Tox2	T	C	2: 163,225,466		probably benign	Het
Usp20	T	A	2: 30,998,789	M1K	probably null	Het
Usp32	A	C	11: 85,059,164	L223V	probably damaging	Het
Zeb1	G	T	18: 5,767,906	A806S	probably damaging	Het
Zeb1	T	C	18: 5,767,138	S550P	probably benign	Het

Other mutations in Dhx32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03398:Dhx32	APN	7	133759525	missense	probably damaging	1.00
R0729:Dhx32	UTSW	7	133737421	missense	probably benign	0.01
R1054:Dhx32	UTSW	7	133725272	missense	probably damaging	1.00
R1438:Dhx32	UTSW	7	133737340	missense	possibly damaging	0.87
R1532:Dhx32	UTSW	7	133749024	missense	possibly damaging	0.93
R1864:Dhx32	UTSW	7	133737296	missense	probably benign	0.00
R1865:Dhx32	UTSW	7	133737296	missense	probably benign	0.00
R2074:Dhx32	UTSW	7	133721292	missense	probably benign	0.04
R2075:Dhx32	UTSW	7	133721292	missense	probably benign	0.04
R2119:Dhx32	UTSW	7	133722247	nonsense	probably null
R2377:Dhx32	UTSW	7	133724478	missense	probably damaging	1.00
R3125:Dhx32	UTSW	7	133725356	missense	probably damaging	1.00
R4519:Dhx32	UTSW	7	133734109	missense	probably damaging	1.00
R4970:Dhx32	UTSW	7	133738655	intron	probably benign
R5538:Dhx32	UTSW	7	133723217	missense	probably benign
R5616:Dhx32	UTSW	7	133721228	makesense	probably null
R5951:Dhx32	UTSW	7	133737328	missense	probably damaging	0.98
R6081:Dhx32	UTSW	7	133722212	missense	probably damaging	1.00
R6297:Dhx32	UTSW	7	133742800	missense	probably damaging	1.00
R6319:Dhx32	UTSW	7	133737226	missense	probably damaging	1.00
R7088:Dhx32	UTSW	7	133742688	missense	probably damaging	1.00
R7257:Dhx32	UTSW	7	133759477	missense	probably benign	0.08
R7686:Dhx32	UTSW	7	133759701	start codon destroyed	probably null
R8025:Dhx32	UTSW	7	133721371	missense	probably damaging	1.00

Posted On

2013-11-11