Mutagenetix > Incidental Mutation

Incidental Mutation 'R9720:Dhx32'

730721

Institutional Source

Beutler Lab

Gene Symbol

Dhx32

Ensembl Gene

ENSMUSG00000030986

Gene Name

DEAH-box helicase 32 (putative)

Synonyms

Ddx32, DEAH (Asp-Glu-Ala-His) box polypeptide 32

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R9720 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133322671-133384455 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 133324857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 607 (E607*)

Ref Sequence

ENSEMBL: ENSMUSP00000033290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033282] [ENSMUST00000033290] [ENSMUST00000063669] [ENSMUST00000106139]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033282

SMART Domains

Protein: ENSMUSP00000033282
Gene: ENSMUSG00000030983

Domain	Start	End	E-Value	Type
Pfam:BCIP	58	258	2.1e-56	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000033290
AA Change: E607*

SMART Domains

Protein: ENSMUSP00000033290
Gene: ENSMUSG00000030986
AA Change: E607*

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

probably null
Transcript: ENSMUST00000063669
AA Change: E607*

SMART Domains

Protein: ENSMUSP00000066067
Gene: ENSMUSG00000030986
AA Change: E607*

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 null
Transcript: ENSMUST00000106139
AA Change: E467*

SMART Domains

Protein: ENSMUSP00000101745
Gene: ENSMUSG00000030986
AA Change: E467*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,154,183 (GRCm39)	V968G	probably damaging	Het
Adam33	A	G	2: 130,900,236 (GRCm39)	V110A		Het
Adamts2	T	C	11: 50,666,954 (GRCm39)	M417T	probably damaging	Het
Adgrv1	A	G	13: 81,740,693 (GRCm39)	I145T	probably damaging	Het
Ampd3	C	A	7: 110,377,056 (GRCm39)	H16N	probably benign	Het
Ank3	A	T	10: 69,825,335 (GRCm39)	S1335C		Het
Ankrd26	G	A	6: 118,498,902 (GRCm39)	S1208L	probably damaging	Het
Atmin	G	A	8: 117,681,653 (GRCm39)		probably null	Het
AU018091	T	C	7: 3,209,272 (GRCm39)	T323A	probably benign	Het
Barx2	A	G	9: 31,765,407 (GRCm39)		probably null	Het
Bltp3b	T	A	10: 89,641,219 (GRCm39)	S797T	probably benign	Het
Brpf3	A	G	17: 29,026,330 (GRCm39)	I468V	probably benign	Het
Cacna1g	T	A	11: 94,302,297 (GRCm39)	H1985L	probably benign	Het
Cass4	T	C	2: 172,269,568 (GRCm39)	V550A	probably benign	Het
Ccdc88a	A	G	11: 29,413,813 (GRCm39)	S784G	probably benign	Het
Cd300ld2	C	T	11: 114,903,118 (GRCm39)		probably null	Het
Cgn	G	A	3: 94,686,621 (GRCm39)	A227V	probably benign	Het
Clcn7	G	T	17: 25,374,471 (GRCm39)	R524L	probably damaging	Het
Cldn22	G	A	8: 48,277,786 (GRCm39)	A75T	probably benign	Het
Ddb1	A	G	19: 10,585,724 (GRCm39)	D146G	probably benign	Het
Egfem1	A	G	3: 29,716,580 (GRCm39)	Y350C	probably damaging	Het
Eri2	T	A	7: 119,386,976 (GRCm39)	D181V	probably damaging	Het
Gabrg2	T	C	11: 41,862,673 (GRCm39)	N137S	probably damaging	Het
Gar1	C	T	3: 129,620,497 (GRCm39)	G197S	unknown	Het
Ggta1	G	T	2: 35,303,418 (GRCm39)	D91E	probably benign	Het
Hap1	T	A	11: 100,246,696 (GRCm39)	I70F	probably benign	Het
Hars2	A	G	18: 36,920,607 (GRCm39)	Y150C	probably damaging	Het
Igsf9b	G	A	9: 27,220,810 (GRCm39)	V59I	probably damaging	Het
Il15	T	G	8: 83,058,608 (GRCm39)	K142Q	probably damaging	Het
Klhl23	T	C	2: 69,654,804 (GRCm39)	Y225H	possibly damaging	Het
Krt6b	T	A	15: 101,588,226 (GRCm39)	I145F	probably benign	Het
Lgals3bp	T	A	11: 118,284,083 (GRCm39)	T499S	probably benign	Het
Lrriq4	A	G	3: 30,714,077 (GRCm39)	N490S	probably damaging	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Mical3	A	G	6: 120,935,238 (GRCm39)	S1763P	probably damaging	Het
Ncoa6	A	G	2: 155,250,304 (GRCm39)	V1000A	probably damaging	Het
Nefm	A	G	14: 68,358,793 (GRCm39)	S414P	probably benign	Het
Nphs1	T	C	7: 30,165,499 (GRCm39)	V622A	possibly damaging	Het
Or6c76	T	C	10: 129,612,581 (GRCm39)	V281A	probably benign	Het
Or6d14	T	C	6: 116,534,016 (GRCm39)	V210A	possibly damaging	Het
Pde4dip	T	C	3: 97,603,287 (GRCm39)	D2234G	probably damaging	Het
Pde6c	A	T	19: 38,157,887 (GRCm39)	Y637F	probably benign	Het
Pigg	T	A	5: 108,467,800 (GRCm39)	C266*	probably null	Het
Pkdrej	A	T	15: 85,702,497 (GRCm39)	D1146E	possibly damaging	Het
Pkp2	T	C	16: 16,087,584 (GRCm39)	V756A	probably benign	Het
Pole	C	T	5: 110,484,909 (GRCm39)	T2245I	probably benign	Het
Ppm1g	A	C	5: 31,360,914 (GRCm39)		probably null	Het
Ppp1r36	A	G	12: 76,485,298 (GRCm39)	I340M	possibly damaging	Het
Pvr	G	A	7: 19,643,121 (GRCm39)	R371*	probably null	Het
Rassf9	G	A	10: 102,348,369 (GRCm39)		probably benign	Het
Rtl1	A	C	12: 109,559,882 (GRCm39)	N652K	possibly damaging	Het
Sall4	G	C	2: 168,592,160 (GRCm39)	S998C	probably damaging	Het
Sdk1	T	C	5: 142,197,796 (GRCm39)	Y2150H	probably damaging	Het
Serpinb3b	A	T	1: 107,083,669 (GRCm39)	I170K	probably benign	Het
Shank2	A	T	7: 143,682,137 (GRCm39)	D390V	probably damaging	Het
Slc39a4	A	G	15: 76,500,930 (GRCm39)	V11A	probably benign	Het
Synj2	C	T	17: 6,040,584 (GRCm39)	T220I	probably benign	Het
Taar7a	A	G	10: 23,868,733 (GRCm39)	I216T	probably benign	Het
Tas2r122	G	T	6: 132,688,634 (GRCm39)	D86E	probably benign	Het
Tbxa2r	T	A	10: 81,169,018 (GRCm39)	C236S	probably benign	Het
Trav13d-4	C	A	14: 53,995,286 (GRCm39)	T80K	probably benign	Het
Trav6d-5	T	A	14: 53,033,077 (GRCm39)	C109S	probably damaging	Het
Trio	A	G	15: 27,847,495 (GRCm39)	M982T	probably benign	Het
Unc80	A	T	1: 66,683,485 (GRCm39)	T2176S	possibly damaging	Het
Ypel1	T	C	16: 16,910,890 (GRCm39)	T259A	probably damaging	Het
Zfp120	A	T	2: 149,959,197 (GRCm39)	I397K	probably benign	Het

Other mutations in Dhx32

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01444:Dhx32	APN	7	133,350,706 (GRCm39)	missense	possibly damaging	0.76
IGL03398:Dhx32	APN	7	133,361,254 (GRCm39)	missense	probably damaging	1.00
R0729:Dhx32	UTSW	7	133,339,150 (GRCm39)	missense	probably benign	0.01
R1054:Dhx32	UTSW	7	133,327,001 (GRCm39)	missense	probably damaging	1.00
R1438:Dhx32	UTSW	7	133,339,069 (GRCm39)	missense	possibly damaging	0.87
R1532:Dhx32	UTSW	7	133,350,753 (GRCm39)	missense	possibly damaging	0.93
R1864:Dhx32	UTSW	7	133,339,025 (GRCm39)	missense	probably benign	0.00
R1865:Dhx32	UTSW	7	133,339,025 (GRCm39)	missense	probably benign	0.00
R2074:Dhx32	UTSW	7	133,323,021 (GRCm39)	missense	probably benign	0.04
R2075:Dhx32	UTSW	7	133,323,021 (GRCm39)	missense	probably benign	0.04
R2119:Dhx32	UTSW	7	133,323,976 (GRCm39)	nonsense	probably null
R2377:Dhx32	UTSW	7	133,326,207 (GRCm39)	missense	probably damaging	1.00
R3125:Dhx32	UTSW	7	133,327,085 (GRCm39)	missense	probably damaging	1.00
R4519:Dhx32	UTSW	7	133,335,838 (GRCm39)	missense	probably damaging	1.00
R4970:Dhx32	UTSW	7	133,340,384 (GRCm39)	intron	probably benign
R5538:Dhx32	UTSW	7	133,324,946 (GRCm39)	missense	probably benign
R5616:Dhx32	UTSW	7	133,322,957 (GRCm39)	makesense	probably null
R5951:Dhx32	UTSW	7	133,339,057 (GRCm39)	missense	probably damaging	0.98
R6081:Dhx32	UTSW	7	133,323,941 (GRCm39)	missense	probably damaging	1.00
R6297:Dhx32	UTSW	7	133,344,529 (GRCm39)	missense	probably damaging	1.00
R6319:Dhx32	UTSW	7	133,338,955 (GRCm39)	missense	probably damaging	1.00
R7088:Dhx32	UTSW	7	133,344,417 (GRCm39)	missense	probably damaging	1.00
R7257:Dhx32	UTSW	7	133,361,206 (GRCm39)	missense	probably benign	0.08
R7686:Dhx32	UTSW	7	133,361,430 (GRCm39)	start codon destroyed	probably null
R7952:Dhx32	UTSW	7	133,350,725 (GRCm39)	missense	probably benign	0.30
R8025:Dhx32	UTSW	7	133,323,100 (GRCm39)	missense	probably damaging	1.00
R8255:Dhx32	UTSW	7	133,339,120 (GRCm39)	missense	probably benign	0.01
R8389:Dhx32	UTSW	7	133,326,935 (GRCm39)	missense	possibly damaging	0.95
R8945:Dhx32	UTSW	7	133,323,876 (GRCm39)	critical splice donor site	probably null
R8949:Dhx32	UTSW	7	133,344,470 (GRCm39)	nonsense	probably null
R9485:Dhx32	UTSW	7	133,327,110 (GRCm39)	missense	possibly damaging	0.61
R9790:Dhx32	UTSW	7	133,326,267 (GRCm39)	missense	probably benign	0.35
R9791:Dhx32	UTSW	7	133,326,267 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- CCATCACCATGAGAGAGTGC -3'
(R):5'- TGAGCTCACATACCCTCAGC -3'

Sequencing Primer
(F):5'- CCATGAGAGAGTGCTGGCTG -3'
(R):5'- GTGAACCTAATCCTAGCCACCTTC -3'

Posted On

2022-10-06