Mutagenetix > Incidental Mutation

Incidental Mutation 'R1930:Ddx23'

215309

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

039948-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98543015-98560775 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98548599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 370 (R370W)

Ref Sequence

ENSEMBL: ENSMUSP00000003450 (fasta)

Gene Model

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

AlphaFold

D3Z0M9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003450
AA Change: R370W

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003450
Gene: ENSMUSG00000003360
AA Change: R370W

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

noncoding transcript
Transcript: ENSMUST00000159423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161030

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,540 (GRCm39)	D148E	probably damaging	Het
4930590J08Rik	T	C	6: 91,892,002 (GRCm39)	V88A	probably benign	Het
4933430I17Rik	A	T	4: 62,450,519 (GRCm39)	D31V	possibly damaging	Het
Acsl1	C	A	8: 46,984,023 (GRCm39)	A514E	probably benign	Het
Adam29	T	C	8: 56,326,124 (GRCm39)	Y110C	probably damaging	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Ago2	A	T	15: 72,991,204 (GRCm39)	I578N	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AW011738	T	C	4: 156,287,997 (GRCm39)		probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Cav1	A	T	6: 17,339,331 (GRCm39)	I139F	probably damaging	Het
Cep152	A	T	2: 125,460,291 (GRCm39)		probably null	Het
Chrnb1	A	G	11: 69,683,563 (GRCm39)	L261P	possibly damaging	Het
Cntn3	C	T	6: 102,219,014 (GRCm39)	W535*	probably null	Het
Col4a4	A	C	1: 82,444,321 (GRCm39)		probably null	Het
Daam2	A	T	17: 49,769,241 (GRCm39)		probably null	Het
Dgkh	T	C	14: 78,853,945 (GRCm39)	I265V	probably damaging	Het
Ece1	A	G	4: 137,666,074 (GRCm39)	K306R	probably benign	Het
Fat1	C	T	8: 45,497,265 (GRCm39)	T4250M	possibly damaging	Het
Fezf1	T	G	6: 23,246,906 (GRCm39)	I309L	probably damaging	Het
Gabra4	T	C	5: 71,795,580 (GRCm39)	K206E	probably damaging	Het
Glt8d2	G	T	10: 82,500,476 (GRCm39)	S91R	probably benign	Het
H2-Oa	A	T	17: 34,312,873 (GRCm39)	H50L	possibly damaging	Het
Hsd17b2	T	C	8: 118,485,643 (GRCm39)	Y369H	possibly damaging	Het
Hspg2	T	A	4: 137,267,541 (GRCm39)	S2050T	probably damaging	Het
Ice1	A	T	13: 70,753,202 (GRCm39)	S961R	probably benign	Het
Ift20	G	A	11: 78,430,830 (GRCm39)	V58I	possibly damaging	Het
Ippk	T	A	13: 49,603,494 (GRCm39)	F367I	probably damaging	Het
Klkb1	T	A	8: 45,728,514 (GRCm39)	Q415L	probably benign	Het
Krtcap2	T	A	3: 89,154,383 (GRCm39)	N35K	probably damaging	Het
Lgi3	T	C	14: 70,773,708 (GRCm39)	V294A	probably damaging	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Magi3	A	T	3: 103,996,920 (GRCm39)	D208E	probably damaging	Het
Mc2r	T	A	18: 68,540,853 (GRCm39)	T147S	probably benign	Het
Mfsd4b1	C	A	10: 39,882,070 (GRCm39)	A72S	probably benign	Het
Msln	A	T	17: 25,970,896 (GRCm39)	N150K	probably damaging	Het
Naaa	A	G	5: 92,425,894 (GRCm39)	V33A	probably benign	Het
Nol10	A	G	12: 17,398,555 (GRCm39)	M1V	probably null	Het
Or4c3	G	A	2: 89,851,505 (GRCm39)	R302C	probably benign	Het
Or6c208	T	A	10: 129,223,745 (GRCm39)	M81K	probably benign	Het
Osbpl1a	T	A	18: 13,038,251 (GRCm39)	Q269L	probably benign	Het
Pcnx2	C	A	8: 126,614,453 (GRCm39)	V333L	probably benign	Het
Peg10	A	G	6: 4,755,778 (GRCm39)	Y118C	probably damaging	Het
Pkhd1l1	A	G	15: 44,366,733 (GRCm39)	D737G	possibly damaging	Het
Ptgfr	T	A	3: 151,540,831 (GRCm39)	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Scgb2b20	T	C	7: 33,065,621 (GRCm39)		probably null	Het
Sdr16c6	A	G	4: 4,058,809 (GRCm39)	V259A	probably benign	Het
Slc16a5	A	T	11: 115,360,194 (GRCm39)	I126F	probably damaging	Het
Slc51b	T	A	9: 65,322,478 (GRCm39)	E21V	probably damaging	Het
Slc8a3	G	T	12: 81,361,220 (GRCm39)	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spata3	A	C	1: 85,949,783 (GRCm39)		probably benign	Het
Specc1l	A	G	10: 75,145,658 (GRCm39)	D1101G	probably damaging	Het
Srf	C	A	17: 46,860,912 (GRCm39)	G401C	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Sugp1	T	A	8: 70,524,190 (GRCm39)	D598E	probably benign	Het
Tdg	T	A	10: 82,477,378 (GRCm39)	L35Q	probably damaging	Het
Tekt2	T	C	4: 126,216,610 (GRCm39)		probably null	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tmprss2	T	C	16: 97,370,262 (GRCm39)	S301G	probably benign	Het
Tnrc18	A	T	5: 142,762,079 (GRCm39)	N515K	unknown	Het
Togaram1	A	G	12: 65,013,709 (GRCm39)	Y320C	probably damaging	Het
Tspyl3	A	G	2: 153,066,717 (GRCm39)	F174L	probably damaging	Het
Ttn	C	T	2: 76,553,193 (GRCm39)	D31099N	probably damaging	Het
Ugt2b1	T	A	5: 87,065,700 (GRCm39)	L446F	probably damaging	Het
Utp25	T	A	1: 192,800,617 (GRCm39)	K401I	probably damaging	Het
Wdfy3	A	G	5: 102,089,358 (GRCm39)	L612P	probably damaging	Het
Zfp109	G	A	7: 23,928,161 (GRCm39)	T424M	probably damaging	Het
Zfp60	T	A	7: 27,436,382 (GRCm39)	M1K	probably null	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
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
R4811:Ddx23	UTSW	15	98,545,352 (GRCm39)	splice site	probably null
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'- AGGAACAGAGCTCTCCAGTC -3'
(R):5'- GAGCAGTCACGTTTCTATGGAG -3'

Sequencing Primer
(F):5'- CTACATTTGCAGTCCTAGAACGTAG -3'
(R):5'- CAGTCACGTTTCTATGGAGACCTG -3'

Posted On

2014-07-14