Mutagenetix > Incidental Mutation

Incidental Mutation 'R0729:Dhx32'

67390

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

038910-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R0729 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133322671-133384455 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133339150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 155 (T155I)

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
AA Change: T295I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033290
Gene: ENSMUSG00000030986
AA Change: T295I

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
AA Change: T295I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000066067
Gene: ENSMUSG00000030986
AA Change: T295I

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
AA Change: T155I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101745
Gene: ENSMUSG00000030986
AA Change: T155I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.0%

Validation Efficiency

97% (74/76)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,050,281 (GRCm39)	A828S	probably benign	Het
Acsm3	T	C	7: 119,383,207 (GRCm39)		probably benign	Het
Adamts12	G	A	15: 11,255,769 (GRCm39)	R446H	possibly damaging	Het
Adgrb1	A	G	15: 74,420,398 (GRCm39)	N849S	probably damaging	Het
Ankra2	A	G	13: 98,408,235 (GRCm39)	D228G	probably damaging	Het
Bicd1	T	C	6: 149,414,412 (GRCm39)	V375A	probably damaging	Het
Blvrb	A	G	7: 27,147,555 (GRCm39)	K5E	possibly damaging	Het
Cacna2d2	A	G	9: 107,394,456 (GRCm39)	N573D	probably benign	Het
Calhm2	C	A	19: 47,121,356 (GRCm39)	G271V	possibly damaging	Het
Capn13	C	T	17: 73,629,064 (GRCm39)	G581E	probably damaging	Het
Capzb	T	C	4: 139,016,288 (GRCm39)		probably benign	Het
Casd1	T	C	6: 4,619,753 (GRCm39)		probably benign	Het
Clca4b	A	G	3: 144,634,111 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crx	A	G	7: 15,605,058 (GRCm39)		probably benign	Het
Cyp2c68	T	C	19: 39,727,994 (GRCm39)		probably benign	Het
Dcaf8	T	A	1: 172,000,221 (GRCm39)	D126E	probably benign	Het
Ddx31	T	C	2: 28,764,186 (GRCm39)	I464T	probably damaging	Het
Elac2	C	A	11: 64,889,349 (GRCm39)	P567T	possibly damaging	Het
Fat4	A	G	3: 39,054,444 (GRCm39)		probably benign	Het
Fh1	T	G	1: 175,442,383 (GRCm39)	N156H	probably damaging	Het
Gm10064	T	C	5: 122,835,584 (GRCm39)		noncoding transcript	Het
Gm14137	A	G	2: 119,005,834 (GRCm39)	E131G	probably benign	Het
Gpr22	T	A	12: 31,759,312 (GRCm39)	K233M	probably damaging	Het
Gpr63	A	G	4: 25,007,480 (GRCm39)	N68S	probably benign	Het
Gypa	C	T	8: 81,223,421 (GRCm39)	P66S	unknown	Het
Htr2a	A	T	14: 74,879,587 (GRCm39)	Q72L	probably benign	Het
Klhdc7b	C	T	15: 89,271,598 (GRCm39)	R827*	probably null	Het
Leo1	G	A	9: 75,364,420 (GRCm39)	R520Q	possibly damaging	Het
Lrrc66	T	C	5: 73,765,757 (GRCm39)	M429V	probably benign	Het
Lrrc74a	C	T	12: 86,792,353 (GRCm39)	Q225*	probably null	Het
Mamdc4	T	A	2: 25,460,048 (GRCm39)	N68Y	probably damaging	Het
Map3k10	G	A	7: 27,360,992 (GRCm39)	P507L	probably damaging	Het
Methig1	T	A	15: 100,272,870 (GRCm39)	C68S	probably benign	Het
Metrn	C	T	17: 26,015,202 (GRCm39)		probably benign	Het
Mmp12	C	T	9: 7,358,290 (GRCm39)	T392I	possibly damaging	Het
Mss51	A	T	14: 20,533,160 (GRCm39)	I437N	probably damaging	Het
Mtus2	A	G	5: 148,014,097 (GRCm39)	T297A	probably benign	Het
Myo10	T	C	15: 25,722,243 (GRCm39)		probably benign	Het
Ncoa7	G	A	10: 30,567,575 (GRCm39)	P319S	probably benign	Het
Nlrp4d	A	T	7: 10,111,612 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,923,535 (GRCm39)	S6455P	probably damaging	Het
Or5b97	T	C	19: 12,878,259 (GRCm39)	N295S	probably damaging	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Pcdh12	A	G	18: 38,415,517 (GRCm39)	I536T	probably benign	Het
Pex5l	G	T	3: 33,008,685 (GRCm39)		probably benign	Het
Pla2g2e	A	C	4: 138,608,046 (GRCm39)	K43Q	possibly damaging	Het
Rasa4	T	C	5: 136,130,924 (GRCm39)		probably benign	Het
Rsf1	C	T	7: 97,328,234 (GRCm39)	R1079W	probably damaging	Het
Sez6	A	G	11: 77,867,411 (GRCm39)	T803A	probably benign	Het
Shcbp1	T	A	8: 4,786,297 (GRCm39)	N602Y	probably benign	Het
Slc16a13	G	A	11: 70,109,857 (GRCm39)	P215S	probably damaging	Het
Slc39a6	T	C	18: 24,734,527 (GRCm39)	Q54R	probably benign	Het
Smg1	C	A	7: 117,745,512 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,797,156 (GRCm39)	N110D	probably damaging	Het
Sptbn1	A	T	11: 30,060,902 (GRCm39)	S2010T	probably damaging	Het
Sun1	T	A	5: 139,223,619 (GRCm39)		probably benign	Het
Sytl5	A	G	X: 9,860,736 (GRCm39)	E717G	probably damaging	Het
Tle1	A	T	4: 72,044,679 (GRCm39)		probably benign	Het
Tm9sf4	T	A	2: 153,033,065 (GRCm39)	V290E	probably damaging	Het
Tmem63b	A	G	17: 45,985,060 (GRCm39)	S179P	probably damaging	Het
Trpm3	T	A	19: 22,965,153 (GRCm39)	F1549L	probably benign	Het
Ubr4	A	T	4: 139,212,631 (GRCm39)	Y5063F	possibly damaging	Het
Uroc1	T	A	6: 90,313,937 (GRCm39)	Y75N	probably damaging	Het
Vmn2r70	T	C	7: 85,215,112 (GRCm39)	T141A	probably benign	Het
Vps13c	A	G	9: 67,868,931 (GRCm39)	K3128E	probably damaging	Het
Wdr26	T	C	1: 181,013,470 (GRCm39)		probably null	Het
Wrn	T	A	8: 33,738,946 (GRCm39)		probably null	Het
Zfp106	C	T	2: 120,385,729 (GRCm39)	V13M	probably damaging	Het
Zfp456	G	A	13: 67,514,663 (GRCm39)	H348Y	probably damaging	Het
Zfpm1	G	A	8: 123,063,398 (GRCm39)	R819H	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
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
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'- TGCAACTACTGCAAGCACATCTGAC -3'
(R):5'- AACGGCATCAAGCTGGGCAAAC -3'

Sequencing Primer
(F):5'- TGTGGCTCCAGATCAGAGAC -3'
(R):5'- GCCATGACATTGTGTAGAAATCAC -3'

Posted On

2013-09-03