Mutagenetix > Incidental Mutation

Incidental Mutation 'R1982:Ddx19b'

219959

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

039994-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111729820-111758383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 111735975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 357 (T357A)

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: T342A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000038551
Gene: ENSMUSG00000033658
AA Change: T342A

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

possibly damaging
Transcript: ENSMUST00000065784
AA Change: T357A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066806
Gene: ENSMUSG00000033658
AA Change: T357A

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

Meta Mutation Damage Score

0.9157

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	T	11: 119,904,340 (GRCm39)	P252Q	probably damaging	Het
Adamts4	T	C	1: 171,086,503 (GRCm39)	V765A	probably benign	Het
Agfg2	A	T	5: 137,662,515 (GRCm39)	V184E	possibly damaging	Het
Alas1	A	T	9: 106,115,384 (GRCm39)	I48N	probably damaging	Het
Anks1	T	C	17: 28,204,095 (GRCm39)	V181A	probably damaging	Het
Anxa8	A	T	14: 33,818,527 (GRCm39)	R261S	probably damaging	Het
Aqp4	T	C	18: 15,526,608 (GRCm39)	D291G	probably damaging	Het
Atrn	A	G	2: 130,812,142 (GRCm39)	R696G	probably benign	Het
Barx2	A	C	9: 31,824,308 (GRCm39)	I27S	probably damaging	Het
Btnl1	A	T	17: 34,598,725 (GRCm39)	I114L	possibly damaging	Het
Casq1	C	T	1: 172,043,097 (GRCm39)	A200T	probably damaging	Het
Ccdc33	T	A	9: 58,024,451 (GRCm39)	E225D	probably benign	Het
Cd84	C	A	1: 171,712,152 (GRCm39)		probably null	Het
Ceacam9	T	G	7: 16,459,232 (GRCm39)	L177R	probably benign	Het
Cenpi	T	A	X: 133,218,782 (GRCm39)	F161L	possibly damaging	Het
Cep63	T	C	9: 102,480,079 (GRCm39)	K251E	probably damaging	Het
Cetn3	A	G	13: 81,932,816 (GRCm39)	E25G	probably damaging	Het
Crybg3	T	C	16: 59,364,488 (GRCm39)	D2378G	possibly damaging	Het
Dpep2	A	C	8: 106,716,087 (GRCm39)	Y266*	probably null	Het
Dqx1	G	A	6: 83,035,558 (GRCm39)	D24N	probably damaging	Het
Dsg4	A	T	18: 20,604,269 (GRCm39)	Y912F	probably damaging	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Fmo1	T	C	1: 162,667,325 (GRCm39)	I163M	possibly damaging	Het
Garin1a	A	G	6: 29,285,921 (GRCm39)	T69A	probably benign	Het
Gatad2a	G	A	8: 70,365,782 (GRCm39)	R428*	probably null	Het
Gfpt1	T	A	6: 87,031,612 (GRCm39)	F85I	possibly damaging	Het
Gimap7	A	T	6: 48,701,175 (GRCm39)	I254F	possibly damaging	Het
Glcci1	T	C	6: 8,592,980 (GRCm39)	S261P	probably damaging	Het
Glis3	A	T	19: 28,508,674 (GRCm39)	F437I	probably damaging	Het
Glp1r	C	A	17: 31,144,601 (GRCm39)	S258*	probably null	Het
Gpt2	C	T	8: 86,242,832 (GRCm39)	A288V	possibly damaging	Het
Grin2c	G	T	11: 115,151,731 (GRCm39)	S76R	possibly damaging	Het
Guf1	T	A	5: 69,724,569 (GRCm39)	Y447*	probably null	Het
H2-T9	T	A	17: 36,439,614 (GRCm39)	D122V	probably damaging	Het
Hectd1	A	C	12: 51,832,624 (GRCm39)	L916V	probably damaging	Het
Hnf4g	A	G	3: 3,703,268 (GRCm39)	K96E	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifi207	T	G	1: 173,562,805 (GRCm39)	M114L	probably benign	Het
Ifi35	A	T	11: 101,349,112 (GRCm39)	E252V	probably damaging	Het
Igsf9b	G	A	9: 27,233,535 (GRCm39)	R345H	possibly damaging	Het
Itih3	T	C	14: 30,645,540 (GRCm39)		probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kidins220	A	T	12: 25,101,193 (GRCm39)	M1252L	probably benign	Het
Kifap3	T	A	1: 163,689,591 (GRCm39)	L525*	probably null	Het
Limk2	A	T	11: 3,305,461 (GRCm39)	D35E	probably benign	Het
Lrrc37a	G	A	11: 103,389,792 (GRCm39)	P1878S	probably benign	Het
Mansc4	T	A	6: 146,977,173 (GRCm39)	I148F	probably benign	Het
Mei1	A	G	15: 81,987,513 (GRCm39)	N859S	probably benign	Het
Mib1	A	G	18: 10,812,064 (GRCm39)	D987G	probably damaging	Het
Mroh8	A	G	2: 157,113,895 (GRCm39)	V132A	possibly damaging	Het
Npnt	T	C	3: 132,653,893 (GRCm39)	I29M	probably benign	Het
Nrap	T	C	19: 56,372,537 (GRCm39)	D138G	probably damaging	Het
Or10a3m	A	G	7: 108,312,902 (GRCm39)	Y102C	probably damaging	Het
Or1e16	A	T	11: 73,285,918 (GRCm39)	I310N	probably benign	Het
Or2h1	T	A	17: 37,404,700 (GRCm39)	E22V	probably damaging	Het
Or6z7	T	C	7: 6,483,931 (GRCm39)	M75V	probably benign	Het
Osbpl5	A	C	7: 143,295,408 (GRCm39)		probably null	Het
Pcna-ps2	T	C	19: 9,261,047 (GRCm39)	V102A	possibly damaging	Het
Pik3c2g	T	C	6: 139,599,546 (GRCm39)	S221P	probably damaging	Het
Plppr3	A	G	10: 79,702,259 (GRCm39)	I271T	probably damaging	Het
Ppp4r3c1	A	T	X: 88,975,051 (GRCm39)	V382E	probably damaging	Het
Pramel25	C	A	4: 143,521,720 (GRCm39)	H445Q	probably benign	Het
Prkar1b	C	T	5: 139,113,398 (GRCm39)	A41T	probably benign	Het
Prkcsh	A	G	9: 21,924,164 (GRCm39)	D458G	probably damaging	Het
Prr14	G	T	7: 127,074,662 (GRCm39)	R398L	possibly damaging	Het
Ptafr	A	G	4: 132,307,296 (GRCm39)	R229G	probably damaging	Het
Rbp3	T	C	14: 33,676,502 (GRCm39)	F150S	probably damaging	Het
Rel	C	T	11: 23,692,761 (GRCm39)	G424D	probably benign	Het
Rlf	T	C	4: 121,007,309 (GRCm39)	Y557C	probably damaging	Het
Samt3	A	C	X: 85,090,740 (GRCm39)	M211L	probably benign	Het
Selenop	A	T	15: 3,305,176 (GRCm39)	I111F	probably damaging	Het
Slc2a2	G	A	3: 28,771,590 (GRCm39)	M173I	probably benign	Het
Slc43a1	G	T	2: 84,687,233 (GRCm39)	G361V	possibly damaging	Het
Slit2	G	A	5: 48,407,178 (GRCm39)	V870M	probably damaging	Het
Ssxb10	A	G	X: 8,197,258 (GRCm39)	D77G	probably benign	Het
Stk32b	T	A	5: 37,806,458 (GRCm39)	I29F	probably damaging	Het
Stra6l	T	A	4: 45,867,237 (GRCm39)	C161*	probably null	Het
Tecpr2	T	A	12: 110,921,219 (GRCm39)	M1264K	probably benign	Het
Tfap2c	A	T	2: 172,399,156 (GRCm39)	I468F	probably damaging	Het
Ticam1	C	T	17: 56,578,555 (GRCm39)	R180H	probably damaging	Het
Tlr4	T	A	4: 66,759,272 (GRCm39)	N688K	probably benign	Het
Tmem35b	A	T	4: 127,019,846 (GRCm39)		probably benign	Het
Ugt2b34	T	C	5: 87,054,172 (GRCm39)	E203G	probably damaging	Het
Vegfa	A	C	17: 46,329,786 (GRCm39)	*393G	probably null	Het
Vmn2r16	T	C	5: 109,511,890 (GRCm39)	V699A	probably benign	Het
Zfp324	T	C	7: 12,705,145 (GRCm39)	S445P	probably damaging	Het
Zfp982	T	A	4: 147,597,049 (GRCm39)	C135*	probably null	Het
Zfp990	A	C	4: 145,263,439 (GRCm39)	N146H	probably damaging	Het
Zfyve26	A	G	12: 79,302,017 (GRCm39)	Y431H	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
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
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'- ACTTTTCTTGCTCACAGGGC -3'
(R):5'- TCCCAAGTCCTAAAATTGAAGGAG -3'

Sequencing Primer
(F):5'- TGAACGGGGCCAGTCTCTG -3'
(R):5'- CTCTAGTCAGCAAGCTTGACAGTG -3'

Posted On

2014-08-25