Mutagenetix > Incidental Mutation

Incidental Mutation 'R0411:Ddx19b'

36667

Institutional Source

Beutler Lab

Gene Symbol

Ddx19b

Ensembl Gene

ENSMUSG00000033658

Gene Name

DEAD box helicase 19b

Synonyms

4921519L13Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 19b, 2810457M08Rik

MMRRC Submission

038613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0411 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

111729820-111758383 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 111750596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040241] [ENSMUST00000065784]

AlphaFold

Q8BZY3

Predicted Effect

probably null
Transcript: ENSMUST00000040241

SMART Domains

Protein: ENSMUSP00000038551
Gene: ENSMUSG00000033658

Domain	Start	End	E-Value	Type
Blast:DEXDc	5	44	1e-12	BLAST
low complexity region	45	55	N/A	INTRINSIC
Blast:DEXDc	57	99	4e-11	BLAST
DEXDc	111	310	2.94e-42	SMART
HELICc	347	434	2.59e-29	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000065784

SMART Domains

Protein: ENSMUSP00000066806
Gene: ENSMUSG00000033658

Domain	Start	End	E-Value	Type
low complexity region	12	25	N/A	INTRINSIC
low complexity region	60	70	N/A	INTRINSIC
Blast:DEXDc	72	114	5e-11	BLAST
DEXDc	126	325	2.94e-42	SMART
HELICc	362	449	2.59e-29	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (66/68)

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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,053,834 (GRCm39)		probably benign	Het
6030469F06Rik	A	T	12: 31,234,730 (GRCm39)		noncoding transcript	Het
Acad11	T	C	9: 103,993,495 (GRCm39)	F541L	probably damaging	Het
Acin1	G	T	14: 54,884,231 (GRCm39)	R92S	probably damaging	Het
Appl1	A	G	14: 26,662,213 (GRCm39)	S490P	probably benign	Het
Aqp9	C	A	9: 71,037,726 (GRCm39)	V184L	probably benign	Het
Arih1	A	T	9: 59,393,266 (GRCm39)	I122N	possibly damaging	Het
Bmi1	T	C	2: 18,687,983 (GRCm39)		probably benign	Het
Bmpr1a	G	A	14: 34,137,834 (GRCm39)	T391I	possibly damaging	Het
Cacna1s	A	G	1: 136,041,041 (GRCm39)	K1256E	probably damaging	Het
Cacng3	C	T	7: 122,367,795 (GRCm39)	P225L	probably damaging	Het
Cd101	A	T	3: 100,925,843 (GRCm39)		probably null	Het
Cd55	A	G	1: 130,390,294 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,928,016 (GRCm39)	I258T	probably damaging	Het
Cfap251	C	T	5: 123,428,117 (GRCm39)	T538M	probably damaging	Het
Cma2	A	G	14: 56,211,135 (GRCm39)		probably benign	Het
Ddost	T	A	4: 138,036,964 (GRCm39)	S176T	probably benign	Het
Dmxl2	A	G	9: 54,286,223 (GRCm39)	I2681T	probably damaging	Het
Ern1	C	T	11: 106,289,412 (GRCm39)	E964K	probably benign	Het
Exoc1l	G	T	5: 76,648,334 (GRCm39)	V47L	possibly damaging	Het
Galntl5	C	T	5: 25,425,172 (GRCm39)	R430C	probably benign	Het
Gga3	A	G	11: 115,478,259 (GRCm39)	L511P	probably damaging	Het
Gria2	C	T	3: 80,618,165 (GRCm39)		probably benign	Het
Hmbs	A	T	9: 44,252,949 (GRCm39)	L28*	probably null	Het
Iffo2	A	G	4: 139,330,532 (GRCm39)	E220G	probably damaging	Het
Ifi30	A	G	8: 71,217,562 (GRCm39)		probably benign	Het
Irf2	T	A	8: 47,299,096 (GRCm39)	C297S	probably benign	Het
Izumo4	T	C	10: 80,538,918 (GRCm39)	Y94H	probably damaging	Het
Klhdc9	A	G	1: 171,187,353 (GRCm39)	V215A	probably benign	Het
Kmt2a	T	C	9: 44,731,261 (GRCm39)		probably benign	Het
Kmt2c	A	T	5: 25,580,955 (GRCm39)	C513S	probably damaging	Het
Lyg1	A	T	1: 37,988,977 (GRCm39)	M81K	possibly damaging	Het
Maip1	T	G	1: 57,454,852 (GRCm39)	W279G	probably damaging	Het
Myo7a	T	C	7: 97,721,144 (GRCm39)	T1263A	probably benign	Het
Naa15	T	A	3: 51,373,060 (GRCm39)	I701N	possibly damaging	Het
Ncoa3	A	G	2: 165,910,463 (GRCm39)	N1292S	probably benign	Het
Necab2	T	A	8: 120,180,979 (GRCm39)		probably benign	Het
Nfatc1	T	A	18: 80,741,257 (GRCm39)	I234F	possibly damaging	Het
Olfm1	G	A	2: 28,098,223 (GRCm39)	R95K	possibly damaging	Het
Or10ag56	A	G	2: 87,139,402 (GRCm39)	T90A	probably benign	Het
Or10ak8	A	T	4: 118,773,823 (GRCm39)	N280K	possibly damaging	Het
Otoa	T	C	7: 120,755,750 (GRCm39)		probably null	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pard6g	A	G	18: 80,160,337 (GRCm39)	D150G	probably damaging	Het
Pax5	A	G	4: 44,609,783 (GRCm39)	L215S	probably damaging	Het
Pja2	A	T	17: 64,594,516 (GRCm39)		probably benign	Het
Plk4	T	A	3: 40,765,654 (GRCm39)		probably benign	Het
Polr1a	A	T	6: 71,955,405 (GRCm39)	H1687L	possibly damaging	Het
Ptcd2	G	A	13: 99,479,899 (GRCm39)	L41F	probably damaging	Het
Ropn1	T	A	16: 34,490,334 (GRCm39)	S62T	probably benign	Het
Setd1a	T	C	7: 127,395,223 (GRCm39)		probably benign	Het
Setdb1	T	C	3: 95,234,997 (GRCm39)	D902G	probably damaging	Het
Sik3	T	A	9: 46,120,068 (GRCm39)	L719Q	probably damaging	Het
Slc36a1	G	T	11: 55,123,333 (GRCm39)	V433F	probably benign	Het
Slc6a3	T	C	13: 73,705,169 (GRCm39)	V220A	possibly damaging	Het
Slc6a5	A	T	7: 49,561,539 (GRCm39)	R24W	probably damaging	Het
Smox	G	T	2: 131,362,564 (GRCm39)	R281L	probably benign	Het
Sulf2	G	T	2: 165,935,436 (GRCm39)	H226N	probably damaging	Het
Syne2	C	T	12: 76,106,358 (GRCm39)		probably null	Het
Tenm3	C	T	8: 48,740,826 (GRCm39)	S1210N	possibly damaging	Het
Tns1	A	T	1: 73,964,920 (GRCm39)	V1237E	probably damaging	Het
Trf	C	T	9: 103,094,700 (GRCm39)	V92M	probably damaging	Het
Ttn	A	G	2: 76,539,717 (GRCm39)	V34423A	possibly damaging	Het
Vmn2r118	A	G	17: 55,918,021 (GRCm39)		probably benign	Het
Vmn2r19	A	G	6: 123,286,703 (GRCm39)	Y112C	probably damaging	Het
Zfp326	G	T	5: 106,026,641 (GRCm39)	A15S	possibly damaging	Het

Other mutations in Ddx19b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01452:Ddx19b	APN	8	111,747,620 (GRCm39)	missense	probably damaging	1.00
IGL02089:Ddx19b	APN	8	111,735,477 (GRCm39)	splice site	probably benign
IGL02445:Ddx19b	APN	8	111,735,456 (GRCm39)	missense	probably damaging	1.00
IGL02756:Ddx19b	APN	8	111,737,910 (GRCm39)	splice site	probably benign
R0483:Ddx19b	UTSW	8	111,735,310 (GRCm39)	missense	probably benign	0.07
R1510:Ddx19b	UTSW	8	111,742,285 (GRCm39)	missense	probably damaging	1.00
R1797:Ddx19b	UTSW	8	111,739,439 (GRCm39)	missense	probably damaging	1.00
R1969:Ddx19b	UTSW	8	111,734,890 (GRCm39)	missense	probably benign	0.00
R1981:Ddx19b	UTSW	8	111,735,975 (GRCm39)	missense	possibly damaging	0.88
R1982:Ddx19b	UTSW	8	111,735,975 (GRCm39)	missense	possibly damaging	0.88
R3771:Ddx19b	UTSW	8	111,747,613 (GRCm39)	missense	probably benign	0.03
R4190:Ddx19b	UTSW	8	111,737,980 (GRCm39)	missense	probably damaging	1.00
R4191:Ddx19b	UTSW	8	111,737,980 (GRCm39)	missense	probably damaging	1.00
R4193:Ddx19b	UTSW	8	111,737,980 (GRCm39)	missense	probably damaging	1.00
R5132:Ddx19b	UTSW	8	111,749,040 (GRCm39)	missense	probably benign
R5435:Ddx19b	UTSW	8	111,735,458 (GRCm39)	missense	possibly damaging	0.67
R7980:Ddx19b	UTSW	8	111,738,077 (GRCm39)	missense	possibly damaging	0.83
R8062:Ddx19b	UTSW	8	111,747,611 (GRCm39)	missense	probably benign	0.00
R8265:Ddx19b	UTSW	8	111,735,824 (GRCm39)	missense	probably damaging	1.00
R8899:Ddx19b	UTSW	8	111,737,929 (GRCm39)	missense	probably damaging	1.00
R9136:Ddx19b	UTSW	8	111,734,906 (GRCm39)	missense	probably benign
R9598:Ddx19b	UTSW	8	111,747,673 (GRCm39)	missense	probably benign
Z1088:Ddx19b	UTSW	8	111,742,207 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TGCATCTTACCCCAAACTGAAGATGAAA -3'
(R):5'- GAACCCAACAGAGCAACCTAATGAGT -3'

Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- AGTCATTTTACTGAGTGCGCC -3'

Posted On

2013-05-09