Mutagenetix > Incidental Mutation

Incidental Mutation 'R2119:Dhx32'

231288

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

040123-MU

Accession Numbers

Essential gene?

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

Stock #

R2119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133322671-133384455 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 133323976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 523 (Y523*)

Ref Sequence

ENSEMBL: ENSMUSP00000101745 (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: Y663*

SMART Domains

Protein: ENSMUSP00000033290
Gene: ENSMUSG00000030986
AA Change: Y663*

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: Y663*

SMART Domains

Protein: ENSMUSP00000066067
Gene: ENSMUSG00000030986
AA Change: Y663*

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: Y523*

SMART Domains

Protein: ENSMUSP00000101745
Gene: ENSMUSG00000030986
AA Change: Y523*

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

noncoding transcript
Transcript: ENSMUST00000136301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151711

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,391,694 (GRCm39)	V10I	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Aifm2	G	A	10: 61,571,383 (GRCm39)	V306M	possibly damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,182,807 (GRCm39)	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,116,231 (GRCm39)	L821P	probably benign	Het
Cdh19	C	T	1: 110,847,320 (GRCm39)	V430I	probably benign	Het
Clns1a	T	A	7: 97,363,111 (GRCm39)		probably null	Het
Col3a1	T	A	1: 45,385,281 (GRCm39)	C133S	probably damaging	Het
Csmd1	G	A	8: 17,266,749 (GRCm39)	T59I	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Cyp2j8	A	T	4: 96,395,438 (GRCm39)	D62E	probably benign	Het
Dcbld1	A	T	10: 52,196,075 (GRCm39)	M428L	probably benign	Het
Dlgap2	C	T	8: 14,828,206 (GRCm39)	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,129,982 (GRCm39)	S919P	probably benign	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsc1	A	T	18: 20,243,209 (GRCm39)	H81Q	probably benign	Het
Dusp8	A	T	7: 141,636,298 (GRCm39)	S431T	possibly damaging	Het
Dync1i1	A	T	6: 5,767,096 (GRCm39)	T59S	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Eef1d	G	T	15: 75,775,062 (GRCm39)	A199E	probably benign	Het
Eml3	T	A	19: 8,911,718 (GRCm39)		probably null	Het
Enah	G	T	1: 181,749,318 (GRCm39)	A138E	probably damaging	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Gba1	A	T	3: 89,112,868 (GRCm39)	E170V	probably benign	Het
Hdac1	C	T	4: 129,416,157 (GRCm39)	R212Q	probably benign	Het
Heatr1	T	A	13: 12,447,527 (GRCm39)	L1740Q	probably null	Het
Inhbb	T	A	1: 119,348,431 (GRCm39)	H129L	probably benign	Het
Inpp5b	T	A	4: 124,691,662 (GRCm39)	H862Q	probably benign	Het
Itsn2	C	A	12: 4,757,025 (GRCm39)	R1372S	probably benign	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Klk1b21	A	T	7: 43,755,193 (GRCm39)	T163S	probably benign	Het
Lmo3	A	T	6: 138,393,492 (GRCm39)	C43S	probably damaging	Het
Metrn	C	T	17: 26,014,197 (GRCm39)	V210I	probably benign	Het
Ndufaf7	A	T	17: 79,252,442 (GRCm39)	I284F	possibly damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or10a5	A	G	7: 106,635,938 (GRCm39)	D192G	probably damaging	Het
Osbpl7	T	C	11: 96,946,905 (GRCm39)	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	T	A	5: 22,223,998 (GRCm39)	E917V	probably damaging	Het
Rfc4	A	T	16: 22,943,314 (GRCm39)	V61E	probably damaging	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,811,993 (GRCm39)		probably null	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Serhl	A	G	15: 82,999,776 (GRCm39)	Q252R	probably benign	Het
Sestd1	T	C	2: 77,042,867 (GRCm39)	D229G	probably benign	Het
Slc35g1	T	C	19: 38,391,735 (GRCm39)	V339A	probably benign	Het
Slc9b2	T	A	3: 135,034,743 (GRCm39)		probably null	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tep1	T	G	14: 51,076,443 (GRCm39)	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,493,377 (GRCm39)	K193E	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Ttc5	A	T	14: 51,012,822 (GRCm39)	Y189N	probably damaging	Het
Ugt2a3	A	T	5: 87,484,430 (GRCm39)	M198K	probably damaging	Het
Uox	A	G	3: 146,318,297 (GRCm39)	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451 (GRCm39)	D2487E	probably benign	Het
Vnn3	G	A	10: 23,740,311 (GRCm39)	G205R	probably damaging	Het
Vps11	T	C	9: 44,260,294 (GRCm39)	D856G	probably benign	Het
Zdhhc17	T	C	10: 110,817,909 (GRCm39)	N90D	possibly damaging	Het
Zfp105	T	A	9: 122,758,743 (GRCm39)	L138*	probably null	Het
Zfp28	A	G	7: 6,397,875 (GRCm39)	Y770C	probably benign	Het
Zfp655	T	A	5: 145,181,594 (GRCm39)	L484Q	probably damaging	Het
Zfp868	C	A	8: 70,064,646 (GRCm39)	E230*	probably null	Het
Zfpm2	A	G	15: 40,966,419 (GRCm39)	Y836C	probably damaging	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
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
R9720:Dhx32	UTSW	7	133,324,857 (GRCm39)	nonsense	probably null
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'- CAATCCATGTGTGGCTTATTCC -3'
(R):5'- CCGGCTCAGGTTTAAAGACAAAG -3'

Sequencing Primer
(F):5'- CATGTGTGGCTTATTCCTACAAG -3'
(R):5'- GGTTTAAAGACAAAGTCACTGTGCC -3'

Posted On

2014-09-18