Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02456:Ddx23'

294159

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx23

Ensembl Gene

ENSMUSG00000003360

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 23

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

98645134-98662894 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98647549 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 626 (V626E)

Ref Sequence

ENSEMBL: ENSMUSP00000003450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003442] [ENSMUST00000003450] [ENSMUST00000109150] [ENSMUST00000230490]

Predicted Effect

probably benign
Transcript: ENSMUST00000003442

SMART Domains

Protein: ENSMUSP00000003442
Gene: ENSMUSG00000003352

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	16	58	8.7e-22	PFAM
SH3	62	125	1.04e0	SMART
GuKc	176	357	1.3e-32	SMART
low complexity region	363	379	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000003450
AA Change: V626E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003450
Gene: ENSMUSG00000003360
AA Change: V626E

Domain	Start	End	E-Value	Type
coiled coil region	63	93	N/A	INTRINSIC
low complexity region	110	130	N/A	INTRINSIC
low complexity region	143	159	N/A	INTRINSIC
coiled coil region	161	200	N/A	INTRINSIC
low complexity region	210	223	N/A	INTRINSIC
coiled coil region	320	352	N/A	INTRINSIC
DEXDc	409	641	2.95e-65	SMART
HELICc	677	758	2.43e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109150

SMART Domains

Protein: ENSMUSP00000104778
Gene: ENSMUSG00000003352

Domain	Start	End	E-Value	Type
Pfam:VGCC_beta4Aa_N	15	57	2.2e-21	PFAM
SH3	61	124	1.04e0	SMART
GuKc	175	356	1.3e-32	SMART
low complexity region	362	378	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161030

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230064

Predicted Effect

probably benign
Transcript: ENSMUST00000230490

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. 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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,261,124	L458Q	probably damaging	Het
4921511C20Rik	T	A	X: 127,394,961	Y174*	probably null	Het
Apc	C	A	18: 34,313,882	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,330,390	F79I	probably damaging	Het
Brip1	G	T	11: 86,065,099	L863I	possibly damaging	Het
Cbx4	T	A	11: 119,082,112	K146*	probably null	Het
Ccdc36	G	T	9: 108,406,621	T208K	probably benign	Het
Ces1a	C	T	8: 93,039,498	V163I	possibly damaging	Het
Ces5a	C	T	8: 93,528,644		probably benign	Het
Cfhr1	A	C	1: 139,556,393	N128K	possibly damaging	Het
Clcn3	T	C	8: 60,941,357	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,178,129	I166S	probably benign	Het
Cntnap3	A	T	13: 64,799,058		probably benign	Het
Cntnap5c	T	A	17: 58,407,744		probably benign	Het
Gcm2	T	C	13: 41,103,001	Y424C	probably benign	Het
Gm9964	A	G	11: 79,296,370	F84L	probably damaging	Het
Grn	T	A	11: 102,436,104	D509E	probably benign	Het
Kdm5c	G	A	X: 152,246,318	D343N	probably damaging	Het
Ly75	C	T	2: 60,293,781	M1717I	probably benign	Het
Map1a	C	A	2: 121,298,653	P133T	probably damaging	Het
Mpp2	C	A	11: 102,059,373	A552S	possibly damaging	Het
Mtr	T	C	13: 12,199,094	I897M	probably damaging	Het
Npas3	A	T	12: 54,048,767	I337F	probably damaging	Het
Nup85	T	C	11: 115,581,865		probably benign	Het
Olfr118	T	A	17: 37,672,449	M142K	possibly damaging	Het
Olfr325	T	A	11: 58,581,198	L118H	possibly damaging	Het
Olfr517	A	G	7: 108,869,050	Y35H	probably benign	Het
Olfr630	T	A	7: 103,755,493	I31F	possibly damaging	Het
Olfr683	T	C	7: 105,143,759	N178S	probably damaging	Het
Pdia4	A	T	6: 47,803,495	D301E	probably benign	Het
Phf2	C	A	13: 48,828,846	G134C	unknown	Het
Polr2h	T	A	16: 20,720,602	L76H	probably damaging	Het
Rbm47	G	A	5: 66,027,021	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,785,880	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,616,834		probably benign	Het
Tacc2	T	C	7: 130,626,261	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,210,546	H46P	probably damaging	Het
Tbck	A	G	3: 132,734,714		probably benign	Het
Tmtc4	A	T	14: 122,925,962		probably null	Het
Ttc13	T	C	8: 124,690,361		probably null	Het
Ttc17	T	C	2: 94,362,785		probably benign	Het
Vmn1r121	T	A	7: 21,098,513	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,952,976	S2825P	probably damaging	Het
Zan	A	C	5: 137,446,844	S1718A	unknown	Het
Zfp39	G	T	11: 58,902,800	Y37*	probably null	Het
Zfp407	T	C	18: 84,558,641	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,823,639	D801E	possibly damaging	Het

Other mutations in Ddx23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01106:Ddx23	APN	15	98650940	missense	probably benign	0.02
IGL02320:Ddx23	APN	15	98650938	missense	possibly damaging	0.68
IGL02325:Ddx23	APN	15	98647193	missense	possibly damaging	0.80
IGL02514:Ddx23	APN	15	98658318	missense	unknown
IGL03173:Ddx23	APN	15	98651004	missense	probably benign	0.31
R0077:Ddx23	UTSW	15	98656600	critical splice donor site	probably null
R1930:Ddx23	UTSW	15	98650718	missense	possibly damaging	0.93
R1931:Ddx23	UTSW	15	98650718	missense	possibly damaging	0.93
R1932:Ddx23	UTSW	15	98650718	missense	possibly damaging	0.93
R3546:Ddx23	UTSW	15	98650732	missense	probably damaging	0.99
R4174:Ddx23	UTSW	15	98658251	missense	unknown
R4574:Ddx23	UTSW	15	98647624	missense	probably damaging	1.00
R4728:Ddx23	UTSW	15	98650225	missense	probably damaging	1.00
R4774:Ddx23	UTSW	15	98647235	missense	probably benign	0.00
R4811:Ddx23	UTSW	15	98647471	splice site	probably null
R5134:Ddx23	UTSW	15	98650770	missense	possibly damaging	0.48
R5895:Ddx23	UTSW	15	98651951	missense	probably benign	0.00
R5952:Ddx23	UTSW	15	98658240	missense	unknown
R6012:Ddx23	UTSW	15	98650770	missense	possibly damaging	0.48
R6289:Ddx23	UTSW	15	98649884	missense	probably benign	0.05
R6705:Ddx23	UTSW	15	98652968	nonsense	probably null
R7289:Ddx23	UTSW	15	98648611	missense	probably damaging	0.98
R7484:Ddx23	UTSW	15	98648689	missense	probably damaging	0.99
R7543:Ddx23	UTSW	15	98658258	missense	unknown
R7740:Ddx23	UTSW	15	98658434	start codon destroyed	probably null
Z1088:Ddx23	UTSW	15	98647621	missense	probably benign	0.14

Posted On

2015-04-16