Mutagenetix > Incidental Mutation

Incidental Mutation 'R4811:Ddx23'

369469

Institutional Source

Beutler Lab

Gene Symbol

Ddx23

Ensembl Gene

ENSMUSG00000003360

Gene Name

DEAD box helicase 23

Synonyms

4921506D17Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 23, 3110082M05Rik

MMRRC Submission

042430-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4811 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98543015-98560775 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 98545352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003450 (fasta)

Gene Model

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

AlphaFold

D3Z0M9

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 null
Transcript: ENSMUST00000003450

SMART Domains

Protein: ENSMUSP00000003450
Gene: ENSMUSG00000003360

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 null
Transcript: ENSMUST00000003450

SMART Domains

Protein: ENSMUSP00000003450
Gene: ENSMUSG00000003360

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,425,952 (GRCm39)		probably benign	Het
Adam3	C	T	8: 25,201,740 (GRCm39)	G208R	probably benign	Het
Arsg	G	T	11: 109,424,898 (GRCm39)	V290L	probably benign	Het
Cad	A	G	5: 31,232,034 (GRCm39)	T104A	probably benign	Het
Ccdc180	A	G	4: 45,928,020 (GRCm39)	N1185S	probably damaging	Het
Cdh18	A	G	15: 23,226,877 (GRCm39)	T113A	probably benign	Het
Crocc2	G	A	1: 93,133,618 (GRCm39)	A967T	probably damaging	Het
Cyp4f16	A	G	17: 32,764,080 (GRCm39)	T291A	probably benign	Het
Dcc	T	A	18: 71,432,554 (GRCm39)	H1300L	probably benign	Het
Dnhd1	T	G	7: 105,363,488 (GRCm39)	S4017A	probably damaging	Het
Erbb4	A	T	1: 68,293,703 (GRCm39)	F729L	probably damaging	Het
Ercc6	G	T	14: 32,296,886 (GRCm39)	R1292L	probably benign	Het
Fam186b	C	T	15: 99,178,118 (GRCm39)	V403M	probably benign	Het
Fam227a	T	C	15: 79,499,628 (GRCm39)	N576D	possibly damaging	Het
Fbln1	A	G	15: 85,111,167 (GRCm39)		probably null	Het
Fbxw17	T	C	13: 50,579,669 (GRCm39)	V162A	probably benign	Het
Gas2l1	A	C	11: 5,014,436 (GRCm39)	I8S	probably damaging	Het
Golgb1	T	C	16: 36,711,781 (GRCm39)	L195P	probably damaging	Het
Gps2	A	T	11: 69,806,754 (GRCm39)	H233L	probably damaging	Het
Guf1	T	G	5: 69,721,852 (GRCm39)		probably null	Het
H2-T9	A	G	17: 36,438,668 (GRCm39)	L241S	probably damaging	Het
Il1rap	T	A	16: 26,519,988 (GRCm39)		probably null	Het
Ints14	A	G	9: 64,871,800 (GRCm39)	Y46C	probably damaging	Het
Kalrn	T	G	16: 34,177,339 (GRCm39)	Q293H	probably damaging	Het
Kank2	A	G	9: 21,687,043 (GRCm39)	L593P	probably damaging	Het
Krt19	T	C	11: 100,032,174 (GRCm39)	T297A	possibly damaging	Het
Lcp1	T	C	14: 75,437,848 (GRCm39)	V86A	probably damaging	Het
Lins1	T	A	7: 66,357,898 (GRCm39)	I11K	probably benign	Het
Lrba	T	C	3: 86,683,448 (GRCm39)	F2757L	probably damaging	Het
Lyst	T	C	13: 13,951,685 (GRCm39)	I3762T	probably benign	Het
Lyzl6	A	G	11: 103,525,851 (GRCm39)	S90P	possibly damaging	Het
Mfsd2a	T	A	4: 122,853,175 (GRCm39)	Q38L	probably benign	Het
Mtss1	A	G	15: 58,815,922 (GRCm39)	F546S	probably damaging	Het
Myo5a	G	A	9: 75,048,825 (GRCm39)		probably null	Het
Naip6	C	A	13: 100,422,299 (GRCm39)	G1245W	probably damaging	Het
Ndfip1	C	T	18: 38,584,645 (GRCm39)	T107I	probably benign	Het
Nek8	C	T	11: 78,058,544 (GRCm39)		probably null	Het
Nphs1	T	C	7: 30,159,854 (GRCm39)	V55A	probably damaging	Het
Nrp2	C	A	1: 62,758,240 (GRCm39)	H75Q	probably damaging	Het
Oas1e	C	T	5: 120,933,448 (GRCm39)	S39N	probably damaging	Het
Or13g1	T	C	7: 85,956,166 (GRCm39)	T52A	probably benign	Het
Or2y1e	T	G	11: 49,218,575 (GRCm39)	S112R	possibly damaging	Het
Or5d37	A	G	2: 87,923,876 (GRCm39)	F135L	probably benign	Het
Or7h8	A	T	9: 20,124,049 (GRCm39)	I135F	probably damaging	Het
Pan3	T	A	5: 147,466,868 (GRCm39)	H632Q	probably damaging	Het
Paqr3	A	C	5: 97,243,842 (GRCm39)	S291A	probably benign	Het
Pcdh17	A	C	14: 84,685,375 (GRCm39)	D614A	probably damaging	Het
Pcyox1l	T	C	18: 61,830,606 (GRCm39)	E422G	possibly damaging	Het
Pgr	G	T	9: 8,900,844 (GRCm39)	E126*	probably null	Het
Pik3ap1	A	G	19: 41,290,936 (GRCm39)	V532A	possibly damaging	Het
Pla2g4c	T	C	7: 13,071,738 (GRCm39)	I186T	probably damaging	Het
Pnkd	G	A	1: 74,388,564 (GRCm39)		probably null	Het
Poc1a	A	G	9: 106,226,908 (GRCm39)	T334A	probably damaging	Het
Pou2f2	T	A	7: 24,797,111 (GRCm39)	K211*	probably null	Het
Rdh13	T	C	7: 4,445,652 (GRCm39)	E94G	probably benign	Het
Rnf186	A	G	4: 138,694,498 (GRCm39)	S13G	probably benign	Het
Ryr2	T	C	13: 11,670,584 (GRCm39)	R3471G	probably damaging	Het
Sbf2	T	C	7: 109,971,742 (GRCm39)	T831A	probably damaging	Het
Sh3gl2	A	G	4: 85,316,403 (GRCm39)		probably benign	Het
Shoc1	T	C	4: 59,082,404 (GRCm39)	N408S	probably benign	Het
Snn	T	C	16: 10,890,397 (GRCm39)	V72A	probably benign	Het
Sys1	T	A	2: 164,306,344 (GRCm39)	H99Q	possibly damaging	Het
Syt7	A	G	19: 10,412,931 (GRCm39)	K122R	probably damaging	Het
Tas1r2	T	A	4: 139,396,311 (GRCm39)	L550Q	probably damaging	Het
Tent5b	T	C	4: 133,213,681 (GRCm39)	L184P	probably benign	Het
Thoc1	T	C	18: 9,993,438 (GRCm39)	I599T	probably damaging	Het
Tle3	C	T	9: 61,281,279 (GRCm39)		probably benign	Het
Tll1	A	C	8: 64,538,507 (GRCm39)	V379G	possibly damaging	Het
Tnfrsf21	G	A	17: 43,348,621 (GRCm39)	E78K	probably benign	Het
Tpgs2	A	G	18: 25,262,897 (GRCm39)		probably benign	Het
Trpm1	T	C	7: 63,858,054 (GRCm39)	L165P	probably damaging	Het
Trpm5	T	C	7: 142,633,956 (GRCm39)	Y750C	probably damaging	Het
Ttbk2	A	C	2: 120,570,551 (GRCm39)	S1201A	possibly damaging	Het
Ust	T	A	10: 8,121,705 (GRCm39)	H301L	probably damaging	Het
Vwa5a	T	C	9: 38,647,249 (GRCm39)	F543L	probably benign	Het
Yeats2	T	A	16: 19,971,645 (GRCm39)		probably null	Het
Zfp85	T	C	13: 67,897,745 (GRCm39)	Y109C	probably damaging	Het
Zfr2	T	A	10: 81,079,547 (GRCm39)	V362E	probably benign	Het
Znrf3	A	T	11: 5,237,420 (GRCm39)	C134S	probably benign	Het

Other mutations in Ddx23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01106:Ddx23	APN	15	98,548,821 (GRCm39)	missense	probably benign	0.02
IGL02320:Ddx23	APN	15	98,548,819 (GRCm39)	missense	possibly damaging	0.68
IGL02325:Ddx23	APN	15	98,545,074 (GRCm39)	missense	possibly damaging	0.80
IGL02456:Ddx23	APN	15	98,545,430 (GRCm39)	missense	probably damaging	1.00
IGL02514:Ddx23	APN	15	98,556,199 (GRCm39)	missense	unknown
IGL03173:Ddx23	APN	15	98,548,885 (GRCm39)	missense	probably benign	0.31
BB007:Ddx23	UTSW	15	98,546,504 (GRCm39)	missense	probably damaging	1.00
BB017:Ddx23	UTSW	15	98,546,504 (GRCm39)	missense	probably damaging	1.00
R0077:Ddx23	UTSW	15	98,554,481 (GRCm39)	critical splice donor site	probably null
R1930:Ddx23	UTSW	15	98,548,599 (GRCm39)	missense	possibly damaging	0.93
R1931:Ddx23	UTSW	15	98,548,599 (GRCm39)	missense	possibly damaging	0.93
R1932:Ddx23	UTSW	15	98,548,599 (GRCm39)	missense	possibly damaging	0.93
R3546:Ddx23	UTSW	15	98,548,613 (GRCm39)	missense	probably damaging	0.99
R4174:Ddx23	UTSW	15	98,556,132 (GRCm39)	missense	unknown
R4574:Ddx23	UTSW	15	98,545,505 (GRCm39)	missense	probably damaging	1.00
R4728:Ddx23	UTSW	15	98,548,106 (GRCm39)	missense	probably damaging	1.00
R4774:Ddx23	UTSW	15	98,545,116 (GRCm39)	missense	probably benign	0.00
R5134:Ddx23	UTSW	15	98,548,651 (GRCm39)	missense	possibly damaging	0.48
R5895:Ddx23	UTSW	15	98,549,832 (GRCm39)	missense	probably benign	0.00
R5952:Ddx23	UTSW	15	98,556,121 (GRCm39)	missense	unknown
R6012:Ddx23	UTSW	15	98,548,651 (GRCm39)	missense	possibly damaging	0.48
R6289:Ddx23	UTSW	15	98,547,765 (GRCm39)	missense	probably benign	0.05
R6705:Ddx23	UTSW	15	98,550,849 (GRCm39)	nonsense	probably null
R7289:Ddx23	UTSW	15	98,546,492 (GRCm39)	missense	probably damaging	0.98
R7484:Ddx23	UTSW	15	98,546,570 (GRCm39)	missense	probably damaging	0.99
R7543:Ddx23	UTSW	15	98,556,139 (GRCm39)	missense	unknown
R7740:Ddx23	UTSW	15	98,556,315 (GRCm39)	start codon destroyed	probably null
R7930:Ddx23	UTSW	15	98,546,504 (GRCm39)	missense	probably damaging	1.00
R8084:Ddx23	UTSW	15	98,556,145 (GRCm39)	missense	unknown
R9558:Ddx23	UTSW	15	98,545,433 (GRCm39)	missense	possibly damaging	0.49
Z1088:Ddx23	UTSW	15	98,545,502 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- TGTTCCAAGATGGCCAGCAG -3'
(R):5'- AGGGCTGAACCTCCTGTTTTATAG -3'

Sequencing Primer
(F):5'- AAGATGGCCAGCAGCTTCTTC -3'
(R):5'- TAGACAGTCATGTTCACGGC -3'

Posted On

2016-02-04