Mutagenetix > Incidental Mutation

Incidental Mutation 'R9136:Ddx19b'

694027

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

068931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9136 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111729820-111758383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111734906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 487 (D487E)

Ref Sequence

ENSEMBL: ENSMUSP00000066806 (fasta)

Gene Model

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

AlphaFold

Q8BZY3

Predicted Effect

probably benign
Transcript: ENSMUST00000040241
AA Change: D472E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038551
Gene: ENSMUSG00000033658
AA Change: D472E

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 benign
Transcript: ENSMUST00000065784
AA Change: D487E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066806
Gene: ENSMUSG00000033658
AA Change: D487E

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,596,807 (GRCm39)	Q420R	probably benign	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Acsl5	A	T	19: 55,266,400 (GRCm39)	K109N	probably benign	Het
Agpat3	T	C	10: 78,120,893 (GRCm39)	N95S	probably damaging	Het
Akna	C	T	4: 63,310,392 (GRCm39)	D451N	probably damaging	Het
Ankrd17	A	T	5: 90,392,278 (GRCm39)	D1797E	probably damaging	Het
Ano2	A	G	6: 125,959,962 (GRCm39)	N691S	probably damaging	Het
Arrdc1	A	T	2: 24,817,193 (GRCm39)		probably benign	Het
Ccdc63	G	A	5: 122,259,146 (GRCm39)	R251W	probably damaging	Het
Cd70	T	C	17: 57,453,152 (GRCm39)	T171A	possibly damaging	Het
Cenpf	A	T	1: 189,403,352 (GRCm39)	S382T	probably benign	Het
Cox5b-ps	A	C	13: 21,685,587 (GRCm39)	M1R	probably null	Het
Dlgap4	G	A	2: 156,588,075 (GRCm39)	E640K	possibly damaging	Het
Dtnbp1	A	T	13: 45,084,546 (GRCm39)	F198Y	possibly damaging	Het
Epha10	T	C	4: 124,796,427 (GRCm39)	Y379H		Het
Eral1	A	G	11: 77,964,960 (GRCm39)	I411T		Het
Exd1	C	T	2: 119,359,385 (GRCm39)	G193E	probably damaging	Het
Fat3	C	A	9: 15,833,738 (GRCm39)	A105S		Het
Fbp2	C	T	13: 63,002,840 (GRCm39)	V71M	possibly damaging	Het
Gm10801	C	CGTA	2: 98,494,152 (GRCm39)		probably null	Het
Grm5	G	A	7: 87,689,254 (GRCm39)	V542I	possibly damaging	Het
Hdc	C	T	2: 126,439,786 (GRCm39)		probably null	Het
Hspe1	G	T	1: 55,128,314 (GRCm39)	K36N	probably damaging	Het
Hypk	T	A	2: 121,287,636 (GRCm39)	L17*	probably null	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Immt	C	T	6: 71,851,403 (GRCm39)	T588I	probably damaging	Het
Kat2b	T	A	17: 53,936,364 (GRCm39)	S179T	probably benign	Het
Krtap19-5	C	T	16: 88,693,246 (GRCm39)	G22D	unknown	Het
Lipk	A	G	19: 33,999,830 (GRCm39)	D153G	probably damaging	Het
Lnpep	A	G	17: 17,750,090 (GRCm39)	V1000A	probably benign	Het
Map3k7cl	T	C	16: 87,391,227 (GRCm39)	L117P	probably damaging	Het
Meikin	A	G	11: 54,285,464 (GRCm39)	E167G	possibly damaging	Het
Miox	A	G	15: 89,220,740 (GRCm39)	Y215C	probably damaging	Het
Mthfd1	T	G	12: 76,350,649 (GRCm39)	M677R	probably damaging	Het
Ncoa7	G	A	10: 30,567,628 (GRCm39)	S350L	probably benign	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nrg3	A	T	14: 38,119,262 (GRCm39)	N403K	possibly damaging	Het
Nup210	T	C	6: 91,020,830 (GRCm39)	T955A	possibly damaging	Het
Odf2l	C	A	3: 144,851,698 (GRCm39)	T82K		Het
Or10ag56	A	G	2: 87,139,219 (GRCm39)	I49V	possibly damaging	Het
Or1m1	T	C	9: 18,666,175 (GRCm39)	Y252C	probably damaging	Het
Or4c108	T	A	2: 88,804,113 (GRCm39)	M41L	probably benign	Het
Or8w1	A	G	2: 87,465,341 (GRCm39)	V250A	probably benign	Het
Otud7b	T	A	3: 96,059,815 (GRCm39)		probably benign	Het
Pcm1	C	T	8: 41,732,825 (GRCm39)	S694L	probably benign	Het
Pex11b	T	C	3: 96,551,259 (GRCm39)	L248P	probably damaging	Het
Pira13	A	T	7: 3,826,285 (GRCm39)	I236N		Het
Ppp3cb	T	C	14: 20,581,867 (GRCm39)	I49M	probably benign	Het
Prorp	C	T	12: 55,350,727 (GRCm39)	P12L	probably benign	Het
Prr14l	A	C	5: 32,986,080 (GRCm39)	C1138W		Het
Prss1	T	G	6: 41,438,280 (GRCm39)		probably benign	Het
Psg22	T	A	7: 18,460,811 (GRCm39)	I480K	probably damaging	Het
Rgs21	A	C	1: 144,412,653 (GRCm39)	F57C		Het
Rngtt	T	A	4: 33,404,218 (GRCm39)	D468E	probably damaging	Het
Rorb	A	T	19: 18,934,686 (GRCm39)	V313E	probably damaging	Het
Sdk2	A	G	11: 113,697,203 (GRCm39)	F1736S	probably damaging	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Slitrk1	T	C	14: 109,148,981 (GRCm39)	I577V		Het
Sos2	C	A	12: 69,633,446 (GRCm39)	E1143D	possibly damaging	Het
Spen	T	C	4: 141,249,623 (GRCm39)	D55G	unknown	Het
Stoml1	C	A	9: 58,168,236 (GRCm39)	Q316K	possibly damaging	Het
Synpo2l	C	T	14: 20,715,857 (GRCm39)	A243T	probably damaging	Het
Tenm4	A	T	7: 96,473,125 (GRCm39)	I974F	possibly damaging	Het
Trp53bp1	T	A	2: 121,067,092 (GRCm39)	I545F	possibly damaging	Het
Unc13a	T	C	8: 72,104,994 (GRCm39)	D756G	possibly damaging	Het
Uqcrc1	A	G	9: 108,776,973 (GRCm39)	N393D	possibly damaging	Het
Vcl	T	A	14: 21,057,344 (GRCm39)	D505E	probably benign	Het
Vwf	A	T	6: 125,576,356 (GRCm39)		probably benign	Het
Wdr11	A	G	7: 129,204,816 (GRCm39)	H207R		Het
Zc3h7b	A	G	15: 81,653,312 (GRCm39)	D72G	probably damaging	Het
Zfp507	A	T	7: 35,475,883 (GRCm39)	D813E	probably damaging	Het
Zfp704	T	C	3: 9,509,324 (GRCm39)	S374G	probably benign	Het
Zfp97	G	A	17: 17,365,215 (GRCm39)	C238Y	probably benign	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
R0411:Ddx19b	UTSW	8	111,750,596 (GRCm39)	critical splice donor site	probably null
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
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'- GTCAAGTCCAAACGTAATTCCG -3'
(R):5'- GGTAGCTATGATCAGAGATAGCCC -3'

Sequencing Primer
(F):5'- CCGAATGAGGTAGGTAGTCTCTACTC -3'
(R):5'- ATCAGAGATAGCCCTGGTGCTATC -3'

Posted On

2022-01-20