Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02543:Dhx33'

298292

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhx33

Ensembl Gene

ENSMUSG00000040620

Gene Name

DEAH-box helicase 33

Synonyms

3110057P17Rik, DEAH (Asp-Glu-Ala-His) box polypeptide 33, 9430096J02Rik, Ddx33

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02543

Quality Score

Status

Chromosome

Chromosomal Location

70874917-70895258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70878066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 435 (Y435C)

Ref Sequence

ENSEMBL: ENSMUSP00000136051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078528] [ENSMUST00000108527] [ENSMUST00000124464] [ENSMUST00000155044]

AlphaFold

Q80VY9

Predicted Effect

probably benign
Transcript: ENSMUST00000049048

SMART Domains

Protein: ENSMUSP00000038018
Gene: ENSMUSG00000040620

Domain	Start	End	E-Value	Type
low complexity region	18	27	N/A	INTRINSIC
Blast:DEXDc	41	76	3e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000078528

SMART Domains

Protein: ENSMUSP00000077612
Gene: ENSMUSG00000018446

Domain	Start	End	E-Value	Type
Pfam:MAM33	84	276	1.2e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108527
AA Change: Y659C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104167
Gene: ENSMUSG00000040620
AA Change: Y659C

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
DEXDc	53	252	1.96e-29	SMART
HELICc	300	401	3.45e-16	SMART
HA2	461	554	3.29e-29	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000124464
AA Change: Y435C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136051
Gene: ENSMUSG00000040620
AA Change: Y435C

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
low complexity region	134	145	N/A	INTRINSIC
HA2	237	330	3.29e-29	SMART
Pfam:OB_NTP_bind	364	464	7.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146203

Predicted Effect

probably benign
Transcript: ENSMUST00000155044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179635

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. The DEAD box proteins are 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	T	19: 31,895,495 (GRCm39)	A193S	probably damaging	Het
Adcy4	T	C	14: 56,006,627 (GRCm39)	T1069A	probably benign	Het
Arg2	A	T	12: 79,197,533 (GRCm39)	I184F	probably benign	Het
Asb18	G	A	1: 89,942,113 (GRCm39)	P63S	probably damaging	Het
Cep85	T	C	4: 133,883,634 (GRCm39)	H85R	possibly damaging	Het
Chfr	A	G	5: 110,291,413 (GRCm39)		probably null	Het
Cog2	A	G	8: 125,256,698 (GRCm39)	N148S	probably benign	Het
Csgalnact1	T	C	8: 68,913,720 (GRCm39)	T162A	probably damaging	Het
Ddi1	C	T	9: 6,266,183 (GRCm39)	G62D	possibly damaging	Het
Dsc3	A	T	18: 20,098,885 (GRCm39)	C765S	probably benign	Het
Egfem1	T	A	3: 29,722,529 (GRCm39)	D362E	probably benign	Het
Gm28040	A	T	1: 133,247,069 (GRCm39)	I26F	possibly damaging	Het
Gm28778	T	C	1: 53,338,202 (GRCm39)	M22T	probably benign	Het
Hdac1-ps	A	G	17: 78,799,303 (GRCm39)	E98G	probably damaging	Het
Hipk2	A	G	6: 38,680,436 (GRCm39)	I968T	possibly damaging	Het
Hlx	T	G	1: 184,462,948 (GRCm39)	S235R	probably damaging	Het
Jag1	T	C	2: 136,933,867 (GRCm39)		probably benign	Het
Kdr	A	G	5: 76,125,607 (GRCm39)		probably benign	Het
Klhl3	T	C	13: 58,166,685 (GRCm39)	E435G	probably damaging	Het
L3mbtl4	T	C	17: 68,768,607 (GRCm39)		probably benign	Het
Large1	T	A	8: 73,775,042 (GRCm39)	M223L	probably benign	Het
Lrp1b	T	C	2: 40,760,413 (GRCm39)	K2838E	possibly damaging	Het
Ncan	T	C	8: 70,561,221 (GRCm39)	D582G	probably benign	Het
Nedd9	T	C	13: 41,470,211 (GRCm39)	D314G	probably damaging	Het
Nip7	T	C	8: 107,784,825 (GRCm39)		probably benign	Het
Or10j27	T	G	1: 172,957,901 (GRCm39)	K294N	probably damaging	Het
Or52ae9	A	T	7: 103,389,710 (GRCm39)	C246S	possibly damaging	Het
Or7a42	C	A	10: 78,791,773 (GRCm39)	H245N	probably damaging	Het
P3h1	T	C	4: 119,095,053 (GRCm39)		probably benign	Het
Pcp4l1	C	T	1: 171,003,133 (GRCm39)		probably benign	Het
Plekhm2	C	T	4: 141,369,330 (GRCm39)	G118D	probably benign	Het
Prkg1	T	C	19: 30,602,134 (GRCm39)	D374G	possibly damaging	Het
Ptcd1	A	G	5: 145,091,497 (GRCm39)	L534P	possibly damaging	Het
Rnf123	A	G	9: 107,943,547 (GRCm39)	S563P	probably damaging	Het
Scart1	A	G	7: 139,800,491 (GRCm39)	M91V	probably benign	Het
Sdk2	A	T	11: 113,759,747 (GRCm39)	I418N	possibly damaging	Het
Slc26a4	A	G	12: 31,578,688 (GRCm39)	I655T	possibly damaging	Het
Syne1	T	C	10: 4,993,618 (GRCm39)	K524R	probably damaging	Het
Tanc1	G	T	2: 59,663,602 (GRCm39)	G1120C	probably damaging	Het
Tbc1d22a	C	T	15: 86,123,372 (GRCm39)	A135V	probably benign	Het
Tenm3	A	C	8: 48,751,991 (GRCm39)	W942G	probably damaging	Het
Thsd7b	G	A	1: 130,092,840 (GRCm39)	V1247I	probably benign	Het
Treml1	A	G	17: 48,667,459 (GRCm39)	T115A	possibly damaging	Het
Ttn	T	C	2: 76,540,306 (GRCm39)	T34227A	probably benign	Het
Ugt2b38	T	A	5: 87,571,342 (GRCm39)	D230V	probably benign	Het
Vmn1r203	G	A	13: 22,709,074 (GRCm39)	G285D	probably damaging	Het
Vmn2r76	A	G	7: 85,879,356 (GRCm39)	S315P	probably benign	Het
Vmn2r98	T	G	17: 19,286,083 (GRCm39)	S194A	probably benign	Het
Wdr1	G	A	5: 38,703,165 (GRCm39)	S137F	probably damaging	Het
Wnt7b	C	T	15: 85,443,097 (GRCm39)		probably benign	Het
Zfp668	A	T	7: 127,467,494 (GRCm39)	C27*	probably null	Het

Other mutations in Dhx33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Dhx33	APN	11	70,892,446 (GRCm39)	missense	probably benign
IGL01357:Dhx33	APN	11	70,884,687 (GRCm39)	nonsense	probably null
IGL01358:Dhx33	APN	11	70,884,687 (GRCm39)	nonsense	probably null
IGL01359:Dhx33	APN	11	70,884,687 (GRCm39)	nonsense	probably null
IGL01360:Dhx33	APN	11	70,884,687 (GRCm39)	nonsense	probably null
IGL01558:Dhx33	APN	11	70,890,579 (GRCm39)	missense	probably benign	0.01
IGL02232:Dhx33	APN	11	70,878,030 (GRCm39)	missense	probably damaging	1.00
R0013:Dhx33	UTSW	11	70,884,461 (GRCm39)	missense	probably damaging	0.99
R0013:Dhx33	UTSW	11	70,884,461 (GRCm39)	missense	probably damaging	0.99
R1544:Dhx33	UTSW	11	70,890,354 (GRCm39)	missense	probably damaging	1.00
R1782:Dhx33	UTSW	11	70,892,466 (GRCm39)	missense	probably damaging	1.00
R1909:Dhx33	UTSW	11	70,879,933 (GRCm39)	missense	probably benign	0.02
R2074:Dhx33	UTSW	11	70,890,669 (GRCm39)	missense	probably damaging	1.00
R3729:Dhx33	UTSW	11	70,879,978 (GRCm39)	missense	probably benign	0.00
R3731:Dhx33	UTSW	11	70,879,978 (GRCm39)	missense	probably benign	0.00
R5902:Dhx33	UTSW	11	70,879,957 (GRCm39)	missense	probably damaging	1.00
R7129:Dhx33	UTSW	11	70,884,689 (GRCm39)	missense	probably damaging	1.00
R7605:Dhx33	UTSW	11	70,890,299 (GRCm39)	missense	probably damaging	1.00
R9135:Dhx33	UTSW	11	70,877,992 (GRCm39)	missense	probably damaging	0.98
R9721:Dhx33	UTSW	11	70,892,424 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16