Mutagenetix > Incidental Mutation

Incidental Mutation 'R4970:Dhx32'

384381

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

042565-MU

Accession Numbers

Essential gene?

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

Stock #

R4970 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

133322671-133384455 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 133340384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101745 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033290

SMART Domains

Protein: ENSMUSP00000033290
Gene: ENSMUSG00000030986

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 benign
Transcript: ENSMUST00000063669

SMART Domains

Protein: ENSMUSP00000066067
Gene: ENSMUSG00000030986

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

noncoding transcript
Transcript: ENSMUST00000120338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211450

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (114/115)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,222,066 (GRCm39)		noncoding transcript	Het
Aars1	A	G	8: 111,770,311 (GRCm39)	M370V	probably benign	Het
Abca2	A	G	2: 25,328,383 (GRCm39)	K846R	probably damaging	Het
Acad9	A	T	3: 36,139,674 (GRCm39)	I425F	probably damaging	Het
Adhfe1	C	A	1: 9,628,463 (GRCm39)	D278E	possibly damaging	Het
Afg3l1	G	A	8: 124,225,392 (GRCm39)	V532I	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano7	G	A	1: 93,325,085 (GRCm39)	V546M	possibly damaging	Het
Aox1	G	A	1: 58,349,254 (GRCm39)		probably null	Het
Asah1	G	T	8: 41,813,314 (GRCm39)	S33*	probably null	Het
Astn1	C	T	1: 158,484,763 (GRCm39)	S15F	possibly damaging	Het
Bag4	A	T	8: 26,261,272 (GRCm39)	Y156*	probably null	Het
Bmpr1b	T	C	3: 141,550,948 (GRCm39)	E381G	probably damaging	Het
Btnl7-ps	A	G	17: 34,756,092 (GRCm39)		noncoding transcript	Het
Caap1	A	T	4: 94,409,297 (GRCm39)		probably null	Het
Card10	C	T	15: 78,686,580 (GRCm39)		probably null	Het
Ccp110	T	C	7: 118,321,614 (GRCm39)	V423A	possibly damaging	Het
Cdc123	A	G	2: 5,809,748 (GRCm39)	L221P	possibly damaging	Het
Cdh19	A	G	1: 110,882,354 (GRCm39)	V46A	possibly damaging	Het
Cfap57	A	G	4: 118,477,568 (GRCm39)	F12S	probably damaging	Het
Clvs1	A	G	4: 9,350,857 (GRCm39)		probably benign	Het
Dgkh	A	T	14: 78,856,077 (GRCm39)	V199E	probably damaging	Het
Dpf3	G	T	12: 83,417,385 (GRCm39)	S29*	probably null	Het
Efcab7	C	A	4: 99,719,780 (GRCm39)	S87R	probably damaging	Het
Fam81a	G	A	9: 70,000,872 (GRCm39)	Q291*	probably null	Het
Fbxo41	G	T	6: 85,454,906 (GRCm39)	N667K	probably damaging	Het
Flacc1	T	C	1: 58,698,441 (GRCm39)	T326A	probably benign	Het
Gm10313	A	T	8: 46,708,462 (GRCm39)		noncoding transcript	Het
Gm28051	G	A	12: 102,686,430 (GRCm39)	Q77*	probably null	Het
Gm5535	T	A	2: 144,016,569 (GRCm39)		noncoding transcript	Het
Gtf2ird1	A	T	5: 134,431,038 (GRCm39)	D339E	probably damaging	Het
Gvin3	A	T	7: 106,199,864 (GRCm39)		noncoding transcript	Het
Igfbp7	A	G	5: 77,555,608 (GRCm39)	M85T	possibly damaging	Het
Il20ra	A	G	10: 19,634,691 (GRCm39)	T311A	possibly damaging	Het
Il24	T	C	1: 130,811,179 (GRCm39)		probably null	Het
Itch	T	C	2: 155,027,513 (GRCm39)	F379L	possibly damaging	Het
Itgad	T	A	7: 127,789,015 (GRCm39)	V488D	possibly damaging	Het
Itpr2	A	T	6: 146,135,489 (GRCm39)	M1814K	possibly damaging	Het
Kirrel3	A	G	9: 34,855,735 (GRCm39)	E92G	possibly damaging	Het
Lpin2	T	C	17: 71,538,329 (GRCm39)	V325A	probably damaging	Het
Lrba	C	T	3: 86,132,678 (GRCm39)	T28M	probably benign	Het
Lrch3	T	C	16: 32,818,883 (GRCm39)	Y661H	probably damaging	Het
Lrfn5	C	A	12: 61,886,461 (GRCm39)	S83Y	probably damaging	Het
Lrp1	A	C	10: 127,375,389 (GRCm39)	L4435R	probably benign	Het
Lrrn1	A	G	6: 107,546,305 (GRCm39)	D701G	probably benign	Het
Map4k3	A	T	17: 80,961,332 (GRCm39)	Y125N	probably benign	Het
Mau2	A	T	8: 70,480,353 (GRCm39)	H273Q	possibly damaging	Het
Med16	A	C	10: 79,742,871 (GRCm39)		probably null	Het
Mmp17	A	G	5: 129,679,229 (GRCm39)	H376R	possibly damaging	Het
Nlrp12	G	A	7: 3,289,613 (GRCm39)	H300Y	possibly damaging	Het
Nlrp3	A	T	11: 59,439,554 (GRCm39)	Y377F	probably damaging	Het
Notch2	T	C	3: 98,008,952 (GRCm39)		probably null	Het
Nudcd1	A	T	15: 44,240,039 (GRCm39)	C500*	probably null	Het
Or52z14	T	C	7: 103,253,197 (GRCm39)	I112T	probably damaging	Het
Or5d37	A	G	2: 87,923,353 (GRCm39)	V309A	probably damaging	Het
Or6b6	T	A	7: 106,570,778 (GRCm39)	M258L	probably benign	Het
Or8g23	A	T	9: 38,971,827 (GRCm39)	M45K	probably benign	Het
Or8h9	A	T	2: 86,789,698 (GRCm39)	Y35N	probably damaging	Het
Pcdhb20	T	A	18: 37,639,824 (GRCm39)	N783K	probably benign	Het
Pclo	T	A	5: 14,727,896 (GRCm39)		probably benign	Het
Pdyn	T	A	2: 129,530,021 (GRCm39)	D216V	probably damaging	Het
Phldb3	A	T	7: 24,324,110 (GRCm39)	I495F	possibly damaging	Het
Pmpca	A	T	2: 26,285,178 (GRCm39)	I468F	probably damaging	Het
Pmpcb	G	A	5: 21,961,441 (GRCm39)	R399H	probably damaging	Het
Polrmt	G	T	10: 79,572,421 (GRCm39)	H1145N	probably damaging	Het
Proser1	A	G	3: 53,371,727 (GRCm39)	D11G	probably damaging	Het
Ptprc	A	G	1: 138,022,037 (GRCm39)	S544P	probably damaging	Het
Ptprn2	G	A	12: 117,240,215 (GRCm39)	E991K	probably damaging	Het
Pwp2	A	C	10: 78,009,527 (GRCm39)	L797R	possibly damaging	Het
Rbm20	G	A	19: 53,840,100 (GRCm39)	A1030T	probably damaging	Het
Rdh7	T	C	10: 127,721,691 (GRCm39)	Y195C	probably benign	Het
Rev3l	T	A	10: 39,699,326 (GRCm39)	D1274E	probably benign	Het
Scfd2	G	T	5: 74,366,982 (GRCm39)	H639Q	probably benign	Het
Sell	T	A	1: 163,892,887 (GRCm39)	H34Q	possibly damaging	Het
Senp8	A	C	9: 59,644,504 (GRCm39)	D204E	probably benign	Het
Setd2	A	G	9: 110,377,226 (GRCm39)	D347G	probably benign	Het
Sh2b1	T	A	7: 126,067,975 (GRCm39)	R560W	probably damaging	Het
Slc36a3	T	A	11: 55,039,399 (GRCm39)	K76N	probably damaging	Het
Slc6a9	A	T	4: 117,713,205 (GRCm39)	Y60F	probably damaging	Het
Slfn10-ps	C	T	11: 82,921,207 (GRCm39)		noncoding transcript	Het
Spata31d1d	G	A	13: 59,875,334 (GRCm39)	H734Y	probably benign	Het
Spmip10	G	T	18: 56,725,494 (GRCm39)	M46I	possibly damaging	Het
Spsb1	T	A	4: 149,991,612 (GRCm39)		probably benign	Het
Sptbn5	T	A	2: 119,882,258 (GRCm39)		noncoding transcript	Het
Sugp2	G	A	8: 70,712,462 (GRCm39)	V1026I	possibly damaging	Het
Syt14	T	A	1: 192,613,285 (GRCm39)		probably benign	Het
Sytl1	G	A	4: 132,982,893 (GRCm39)	Q373*	probably null	Het
Trim38	T	A	13: 23,975,312 (GRCm39)	L417Q	probably damaging	Het
Ttll1	T	C	15: 83,380,597 (GRCm39)	H256R	probably damaging	Het
Ttyh2	A	T	11: 114,587,583 (GRCm39)	T195S	probably benign	Het
Unc119b	A	G	5: 115,263,553 (GRCm39)	L217P	probably damaging	Het
Usp6nl	A	G	2: 6,425,714 (GRCm39)	K152E	probably benign	Het
Vcam1	T	C	3: 115,910,941 (GRCm39)	R486G	probably benign	Het
Vmn1r225	G	A	17: 20,722,831 (GRCm39)	G91S	possibly damaging	Het
Vmn2r1	A	C	3: 63,997,544 (GRCm39)	Q400P	possibly damaging	Het
Vmn2r87	A	T	10: 130,314,422 (GRCm39)	L388Q	probably damaging	Het
Wnk1	A	T	6: 119,942,696 (GRCm39)		probably benign	Het
Zfp239	A	G	6: 117,847,478 (GRCm39)		probably benign	Het
Zfp688	T	C	7: 127,018,327 (GRCm39)	Y266C	probably damaging	Het
Zfp850	A	T	7: 27,689,658 (GRCm39)	C183*	probably null	Het
Zscan29	T	C	2: 120,999,676 (GRCm39)		probably null	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
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'- GCACACAACAGCGTTTATGCC -3'
(R):5'- ACGTGGCTGAAGTTGACGTC -3'

Sequencing Primer
(F):5'- AGCGTTTATGCCACTAGAGC -3'
(R):5'- TGAAGTTGACGTCTGACCAC -3'

Posted On

2016-04-27