Mutagenetix > Incidental Mutation

Incidental Mutation 'R1438:Dhx32'

160773

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

039493-MU

Accession Numbers

Essential gene?

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

Stock #

R1438 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133322671-133384455 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133339069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 322 (E322G)

Ref Sequence

ENSEMBL: ENSMUSP00000066067 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033290
AA Change: E322G

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033290
Gene: ENSMUSG00000030986
AA Change: E322G

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: E322G

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066067
Gene: ENSMUSG00000030986
AA Change: E322G

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

possibly damaging
Transcript: ENSMUST00000106139
AA Change: E182G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101745
Gene: ENSMUSG00000030986
AA Change: E182G

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

0.1296

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

99% (80/81)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	T	5: 137,552,871 (GRCm39)	I67F	probably damaging	Het
Adam24	A	T	8: 41,134,431 (GRCm39)	N633I	probably benign	Het
Adgrg6	T	C	10: 14,344,585 (GRCm39)	S123G	possibly damaging	Het
Afdn	T	A	17: 14,075,652 (GRCm39)	F940L	probably damaging	Het
Ahrr	A	T	13: 74,372,987 (GRCm39)	Y26*	probably null	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Aox3	A	T	1: 58,192,337 (GRCm39)	T536S	probably benign	Het
Boc	A	T	16: 44,309,109 (GRCm39)		probably null	Het
Cchcr1	T	C	17: 35,841,457 (GRCm39)		probably null	Het
Cct2	A	T	10: 116,890,897 (GRCm39)		probably benign	Het
Cd84	A	T	1: 171,679,685 (GRCm39)	Y121F	probably damaging	Het
Cecr2	T	A	6: 120,738,433 (GRCm39)	C275*	probably null	Het
Chchd3	C	A	6: 32,985,503 (GRCm39)		probably benign	Het
Ckmt2	A	T	13: 92,007,971 (GRCm39)		probably benign	Het
Col5a3	T	C	9: 20,691,253 (GRCm39)	K1131E	probably damaging	Het
Dek	A	T	13: 47,241,647 (GRCm39)	S306T	probably benign	Het
Dlg5	T	A	14: 24,204,673 (GRCm39)	D941V	possibly damaging	Het
Dnah10	A	G	5: 124,876,009 (GRCm39)	N2559S	probably benign	Het
Dnajc3	A	G	14: 119,205,518 (GRCm39)	T171A	probably benign	Het
Eftud2	G	T	11: 102,750,868 (GRCm39)	F308L	probably damaging	Het
Elp6	T	C	9: 110,143,123 (GRCm39)	F95S	probably damaging	Het
Emsy	C	T	7: 98,270,613 (GRCm39)	V450I	possibly damaging	Het
Exoc3	A	T	13: 74,338,298 (GRCm39)	M362K	probably damaging	Het
Fat2	A	T	11: 55,178,637 (GRCm39)	D1474E	probably damaging	Het
Fcgbp	T	A	7: 27,803,158 (GRCm39)	C1587*	probably null	Het
Fosl2	T	A	5: 32,304,329 (GRCm39)	L88Q	probably damaging	Het
Fsd2	T	C	7: 81,198,621 (GRCm39)	D381G	probably benign	Het
Golim4	A	C	3: 75,863,440 (GRCm39)	S56A	probably damaging	Het
Gpr39	T	C	1: 125,800,093 (GRCm39)		probably benign	Het
Gucy1b2	T	C	14: 62,651,770 (GRCm39)	I409V	probably damaging	Het
Hivep1	A	G	13: 42,311,596 (GRCm39)	T1279A	probably benign	Het
Ifit1bl2	T	A	19: 34,596,569 (GRCm39)	Q349L	possibly damaging	Het
Kcnc1	A	T	7: 46,077,691 (GRCm39)	I498F	possibly damaging	Het
Kctd21	T	A	7: 96,996,704 (GRCm39)	I59N	probably damaging	Het
Lama5	T	A	2: 179,824,593 (GRCm39)	T2577S	probably benign	Het
Mief2	G	T	11: 60,621,140 (GRCm39)	R9M	possibly damaging	Het
Mmp3	T	C	9: 7,453,705 (GRCm39)	V442A	probably benign	Het
Nkapd1	C	A	9: 50,518,972 (GRCm39)	K213N	possibly damaging	Het
Nrxn3	C	T	12: 90,298,909 (GRCm39)	R477W	probably damaging	Het
Or12e7	A	G	2: 87,288,336 (GRCm39)	T276A	probably benign	Het
Or7a41	T	A	10: 78,871,122 (GRCm39)	V164E	possibly damaging	Het
Parp1	A	G	1: 180,418,807 (GRCm39)	T656A	probably benign	Het
Pcdhb19	A	G	18: 37,631,015 (GRCm39)	D270G	probably damaging	Het
Phlpp1	A	G	1: 106,101,142 (GRCm39)	D470G	possibly damaging	Het
Prdm1	T	C	10: 44,318,124 (GRCm39)	E248G	probably benign	Het
Prtg	C	T	9: 72,818,032 (GRCm39)		probably benign	Het
Ptpn1	T	C	2: 167,818,529 (GRCm39)	Y424H	probably damaging	Het
Ptprr	T	C	10: 116,092,109 (GRCm39)	V369A	probably damaging	Het
Rai1	T	G	11: 60,076,221 (GRCm39)	V95G	probably benign	Het
Rasal3	T	A	17: 32,612,509 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,260,961 (GRCm39)	E195G	probably benign	Het
Rhbdd3	T	A	11: 5,053,332 (GRCm39)	L44Q	probably damaging	Het
Ripply2	T	C	9: 86,901,713 (GRCm39)	W80R	probably damaging	Het
Rnf183	A	G	4: 62,346,760 (GRCm39)	C13R	probably damaging	Het
Rorb	A	G	19: 18,932,417 (GRCm39)	L367P	probably damaging	Het
Rpl7a-ps5	C	T	17: 58,146,135 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,114,581 (GRCm39)	N647D	probably benign	Het
Rtn1	A	T	12: 72,351,187 (GRCm39)	S341T	probably damaging	Het
Ryr3	T	C	2: 112,588,046 (GRCm39)	S2632G	probably benign	Het
Scube1	A	G	15: 83,499,227 (GRCm39)	C633R	possibly damaging	Het
Sdk1	A	T	5: 142,024,078 (GRCm39)	I723F	probably damaging	Het
Sec23a	A	T	12: 59,048,796 (GRCm39)	C109S	probably damaging	Het
Septin11	T	C	5: 93,296,287 (GRCm39)	F60L	probably damaging	Het
Sgf29	G	A	7: 126,271,063 (GRCm39)		probably null	Het
Skint5	A	G	4: 113,413,308 (GRCm39)		probably benign	Het
Smo	G	A	6: 29,755,482 (GRCm39)	V385I	possibly damaging	Het
Tada2a	G	A	11: 84,000,837 (GRCm39)	T76I	probably damaging	Het
Tas2r118	T	A	6: 23,969,422 (GRCm39)	H213L	possibly damaging	Het
Thoc5	A	T	11: 4,861,427 (GRCm39)		probably benign	Het
Tmem33	T	A	5: 67,424,634 (GRCm39)		probably null	Het
Top1mt	A	G	15: 75,546,247 (GRCm39)	L78P	probably damaging	Het
Uvssa	T	A	5: 33,571,228 (GRCm39)		probably benign	Het
Vmn2r50	A	T	7: 9,784,062 (GRCm39)	C137*	probably null	Het
Vmn2r81	A	G	10: 79,129,691 (GRCm39)	T861A	probably benign	Het
Wnt3	A	T	11: 103,699,077 (GRCm39)	N61I	probably damaging	Het
Zswim9	A	G	7: 13,011,144 (GRCm39)	I68T	possibly damaging	Het
Zzef1	T	C	11: 72,803,771 (GRCm39)	I2535T	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
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'- AGAACCCTGGGTCACAGTG -3'
(R):5'- TTGCCTAAAGCACAGTTGC -3'

Posted On

2014-03-14