Mutagenetix > Incidental Mutation

Incidental Mutation 'R4133:Ddx39b'

314779

Institutional Source

Beutler Lab

Gene Symbol

Ddx39b

Ensembl Gene

ENSMUSG00000019432

Gene Name

DEAD box helicase 39b

Synonyms

D17H6S81E-1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B, Bat1a, Bat1, Bat-1, 0610030D10Rik

MMRRC Submission

041637-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R4133 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35460722-35472683 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35472065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 368 (S368L)

Ref Sequence

ENSEMBL: ENSMUSP00000133428 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068056] [ENSMUST00000172549] [ENSMUST00000173731] [ENSMUST00000174757]

AlphaFold

Q9Z1N5

Predicted Effect

probably damaging
Transcript: ENSMUST00000068056
AA Change: S368L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000070682
Gene: ENSMUSG00000019432
AA Change: S368L

Domain	Start	End	E-Value	Type
DEXDc	64	265	7.17e-55	SMART
HELICc	301	382	1.48e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172549
AA Change: S368L

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134178
Gene: ENSMUSG00000019432
AA Change: S368L

Domain	Start	End	E-Value	Type
DEXDc	64	265	7.17e-55	SMART
HELICc	301	382	1.48e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000173731
AA Change: S368L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133428
Gene: ENSMUSG00000019432
AA Change: S368L

Domain	Start	End	E-Value	Type
DEXDc	64	265	7.17e-55	SMART
HELICc	301	382	1.48e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174164

Predicted Effect

probably benign
Transcript: ENSMUST00000174757

SMART Domains

Protein: ENSMUSP00000133705
Gene: ENSMUSG00000019432

Domain	Start	End	E-Value	Type
DEXDc	1	147	2.85e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183361

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (77/79)

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 family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	T	A	9: 60,677,280 (GRCm39)		noncoding transcript	Het
Aldh3b1	A	G	19: 3,970,808 (GRCm39)	I184T	probably damaging	Het
Arhgap42	C	T	9: 9,011,300 (GRCm39)		probably benign	Het
Arhgef4	A	G	1: 34,845,185 (GRCm39)	D1463G	probably damaging	Het
Arpc5	A	G	1: 152,644,622 (GRCm39)	T52A	probably benign	Het
Asb6	A	G	2: 30,718,247 (GRCm39)		probably benign	Het
Ash1l	T	C	3: 88,889,567 (GRCm39)	V482A	probably benign	Het
Bop1	T	C	15: 76,338,535 (GRCm39)	N469S	probably benign	Het
Btaf1	T	A	19: 36,939,138 (GRCm39)	N266K	probably benign	Het
Btla	T	C	16: 45,059,661 (GRCm39)	Y122H	probably damaging	Het
Cacna1g	A	G	11: 94,323,370 (GRCm39)	M1278T	probably damaging	Het
Cdc42bpb	A	G	12: 111,287,976 (GRCm39)	S524P	probably benign	Het
Cep78	A	G	19: 15,946,519 (GRCm39)	S438P	probably damaging	Het
Clca4a	T	G	3: 144,675,113 (GRCm39)	E171D	probably benign	Het
Cldn6	A	T	17: 23,900,467 (GRCm39)	I144F	probably damaging	Het
Cpd	G	A	11: 76,705,644 (GRCm39)	Q363*	probably null	Het
Cpn1	G	A	19: 43,974,723 (GRCm39)	P2L	possibly damaging	Het
Ddx31	A	G	2: 28,748,864 (GRCm39)	D264G	probably damaging	Het
Ddx60	A	G	8: 62,425,254 (GRCm39)	K681E	probably damaging	Het
Dennd1c	A	C	17: 57,383,980 (GRCm39)	W15G	possibly damaging	Het
Dgkd	T	G	1: 87,869,223 (GRCm39)		probably null	Het
Dnah7c	G	T	1: 46,705,150 (GRCm39)	A2388S	probably benign	Het
Etv4	C	A	11: 101,661,324 (GRCm39)	K442N	probably damaging	Het
Fam234a	T	C	17: 26,432,532 (GRCm39)	D539G	probably damaging	Het
Fancm	A	G	12: 65,167,304 (GRCm39)	T1538A	probably benign	Het
Fbn2	A	T	18: 58,229,034 (GRCm39)	N725K	possibly damaging	Het
Fcer2a	T	A	8: 3,741,130 (GRCm39)	N4I	possibly damaging	Het
Fgd5	T	C	6: 92,046,418 (GRCm39)	V1229A	probably damaging	Het
Garin4	A	T	1: 190,895,205 (GRCm39)	N479K	probably benign	Het
Gm5471	A	T	15: 44,835,297 (GRCm39)		noncoding transcript	Het
Gm5478	T	A	15: 101,553,080 (GRCm39)	I331F	probably damaging	Het
Gm6729	C	A	10: 86,377,030 (GRCm39)		noncoding transcript	Het
Hectd4	G	T	5: 121,415,897 (GRCm39)		probably null	Het
Hspb3	A	C	13: 113,800,027 (GRCm39)	M1R	probably null	Het
Igkv10-95	T	C	6: 68,657,601 (GRCm39)	V19A	probably damaging	Het
Il1rap	A	G	16: 26,541,636 (GRCm39)	S626G	probably benign	Het
Ints9	A	G	14: 65,228,003 (GRCm39)	H103R	probably benign	Het
Itga4	T	A	2: 79,152,996 (GRCm39)	D894E	probably damaging	Het
Khsrp	T	C	17: 57,332,605 (GRCm39)	H225R	probably benign	Het
Lama1	T	C	17: 68,057,650 (GRCm39)	Y575H	probably damaging	Het
Lama1	A	T	17: 68,119,481 (GRCm39)	I2653F	probably damaging	Het
Map4k5	A	T	12: 69,892,497 (GRCm39)	L144Q	probably damaging	Het
Mcm5	A	G	8: 75,842,482 (GRCm39)	Y252C	probably damaging	Het
Mmgt2	A	G	11: 62,555,877 (GRCm39)	E75G	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Nckap5	A	G	1: 126,150,443 (GRCm39)	V162A	probably benign	Het
Nr3c2	T	C	8: 77,636,378 (GRCm39)	I493T	probably damaging	Het
Or2ag16	A	C	7: 106,352,286 (GRCm39)	L103R	probably damaging	Het
Or2t46	A	T	11: 58,471,901 (GRCm39)	Y77F	probably damaging	Het
Or9s15	T	C	1: 92,524,465 (GRCm39)	F75L	probably benign	Het
Papola	A	G	12: 105,765,917 (GRCm39)	T6A	possibly damaging	Het
Ppp1cc	G	A	5: 122,306,289 (GRCm39)	R36Q	probably benign	Het
Ptpro	G	T	6: 137,397,370 (GRCm39)	W81C	probably damaging	Het
Rasgrf2	A	G	13: 92,130,773 (GRCm39)	S162P	possibly damaging	Het
Rpusd2	T	C	2: 118,869,196 (GRCm39)	S540P	probably damaging	Het
Scn5a	T	A	9: 119,315,438 (GRCm39)	T1757S	probably damaging	Het
Setbp1	T	C	18: 78,900,206 (GRCm39)	I1154V	probably benign	Het
Sirt1	T	C	10: 63,171,438 (GRCm39)	I209V	probably null	Het
Slco6c1	T	A	1: 97,009,218 (GRCm39)	I406L	probably benign	Het
Smc2	A	G	4: 52,450,947 (GRCm39)	E255G	probably damaging	Het
Snap91	C	A	9: 86,659,102 (GRCm39)	G477V	probably damaging	Het
Speg	A	G	1: 75,404,548 (GRCm39)	Q2780R	probably benign	Het
Spmap2	T	C	10: 79,415,884 (GRCm39)	T236A	probably damaging	Het
Ssh2	A	G	11: 77,312,095 (GRCm39)	Y196C	probably damaging	Het
Ssxb9	A	T	X: 8,235,845 (GRCm39)	T18S	probably damaging	Het
Stxbp5l	T	C	16: 37,028,481 (GRCm39)	I527M	possibly damaging	Het
Tex10	T	C	4: 48,468,968 (GRCm39)	Y69C	probably damaging	Het
Thoc3	T	C	13: 54,616,361 (GRCm39)	D87G	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trps1	T	C	15: 50,694,783 (GRCm39)	K213R	probably damaging	Het
Uggt1	A	T	1: 36,197,240 (GRCm39)	L1221Q	probably damaging	Het
Vmn2r3	T	A	3: 64,183,138 (GRCm39)	Y187F	probably damaging	Het
Washc2	G	A	6: 116,235,891 (GRCm39)	E1121K	probably damaging	Het
Zfx	T	C	X: 93,124,464 (GRCm39)	N360D	probably damaging	Het
Znhit3	A	G	11: 84,807,139 (GRCm39)	V10A	probably benign	Het

Other mutations in Ddx39b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Ddx39b	APN	17	35,465,937 (GRCm39)	missense	probably benign
IGL02932:Ddx39b	APN	17	35,472,337 (GRCm39)	unclassified	probably benign
R4111:Ddx39b	UTSW	17	35,462,340 (GRCm39)	missense	possibly damaging	0.93
R4654:Ddx39b	UTSW	17	35,472,464 (GRCm39)	makesense	probably null
R5083:Ddx39b	UTSW	17	35,472,005 (GRCm39)	missense	possibly damaging	0.50
R5698:Ddx39b	UTSW	17	35,470,287 (GRCm39)	missense	probably benign	0.16
R7060:Ddx39b	UTSW	17	35,471,726 (GRCm39)	missense	probably damaging	0.96
R7073:Ddx39b	UTSW	17	35,471,826 (GRCm39)	missense	probably benign	0.00
R7087:Ddx39b	UTSW	17	35,472,025 (GRCm39)	missense	probably damaging	1.00
R7159:Ddx39b	UTSW	17	35,465,986 (GRCm39)	missense	probably benign	0.07
R7251:Ddx39b	UTSW	17	35,472,464 (GRCm39)	makesense	probably null
R7554:Ddx39b	UTSW	17	35,466,006 (GRCm39)	missense	probably benign	0.00
R7748:Ddx39b	UTSW	17	35,471,726 (GRCm39)	missense	probably damaging	0.96
R8811:Ddx39b	UTSW	17	35,463,435 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCATTGCTATCCATCGTGG -3'
(R):5'- CGTCATTCAGGATCTTGGCATC -3'

Sequencing Primer
(F):5'- TCCATCGTGGAATGCCCCAG -3'
(R):5'- GGCATCATTCTCATCTGACACAAATG -3'

Posted On

2015-05-14