Mutagenetix > Incidental Mutation

Incidental Mutation 'R5259:Ddx18'

401279

Institutional Source

Beutler Lab

Gene Symbol

Ddx18

Ensembl Gene

ENSMUSG00000001674

Gene Name

DEAD box helicase 18

Synonyms

2310005B10Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 18

MMRRC Submission

042856-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5259 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

121481564-121495709 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 121495518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000001724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001724]

AlphaFold

Q8K363

Predicted Effect

probably null
Transcript: ENSMUST00000001724

SMART Domains

Protein: ENSMUSP00000001724
Gene: ENSMUSG00000001674

Domain	Start	End	E-Value	Type
coiled coil region	2	32	N/A	INTRINSIC
internal_repeat_1	36	75	1.67e-5	PROSPERO
internal_repeat_1	66	105	1.67e-5	PROSPERO
low complexity region	109	117	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
DEXDc	188	393	1.95e-56	SMART
low complexity region	401	417	N/A	INTRINSIC
HELICc	429	510	2.84e-26	SMART
DUF4217	550	613	1.65e-26	SMART
low complexity region	620	638	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131471

Meta Mutation Damage Score

0.9381

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (68/68)

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, and it is activated by Myc protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	C	3: 40,871,325 (GRCm39)	T50P	probably damaging	Het
Adam5	T	A	8: 25,300,850 (GRCm39)	L226F	possibly damaging	Het
Adi1	T	C	12: 28,725,544 (GRCm39)		probably benign	Het
Apc	T	C	18: 34,447,343 (GRCm39)	V1379A	probably benign	Het
Atp13a4	G	A	16: 29,275,428 (GRCm39)	T352M	probably damaging	Het
Baat	T	A	4: 49,490,070 (GRCm39)	N338I	probably benign	Het
Bdnf	A	G	2: 109,554,327 (GRCm39)	T234A	probably benign	Het
Catsperd	A	C	17: 56,967,235 (GRCm39)	T539P	possibly damaging	Het
Cd109	A	T	9: 78,617,434 (GRCm39)	T1311S	probably benign	Het
Ceacam18	T	C	7: 43,286,536 (GRCm39)		probably null	Het
Cfap96	T	C	8: 46,415,373 (GRCm39)	E211G	probably benign	Het
Cfhr4	C	T	1: 139,668,233 (GRCm39)	C300Y	probably damaging	Het
Chsy3	T	A	18: 59,543,318 (GRCm39)	S819T	probably damaging	Het
Col4a4	G	T	1: 82,431,614 (GRCm39)	R1557S	unknown	Het
Depdc5	C	T	5: 33,095,635 (GRCm39)	P824L	probably damaging	Het
Fam13c	C	G	10: 70,276,893 (GRCm39)	A17G	probably benign	Het
Fermt1	T	C	2: 132,748,685 (GRCm39)	Y646C	probably damaging	Het
Fra10ac1	A	G	19: 38,188,110 (GRCm39)	S229P	probably benign	Het
Gbp8	A	T	5: 105,198,845 (GRCm39)	H23Q	probably benign	Het
Gdf2	T	C	14: 33,666,788 (GRCm39)	V170A	probably benign	Het
Gm15723	T	C	10: 114,652,722 (GRCm39)		noncoding transcript	Het
Gm815	G	A	19: 26,863,806 (GRCm39)	V16I	unknown	Het
Ighv1-75	T	A	12: 115,797,797 (GRCm39)	K42*	probably null	Het
Isx	A	G	8: 75,619,473 (GRCm39)	T222A	probably benign	Het
Itgax	G	A	7: 127,747,450 (GRCm39)	D1018N	probably damaging	Het
Kcnc4	A	G	3: 107,355,401 (GRCm39)	F349S	probably damaging	Het
Lama3	A	C	18: 12,598,565 (GRCm39)	S991R	probably damaging	Het
Larp4b	C	T	13: 9,208,220 (GRCm39)	A398V	probably damaging	Het
Ltbp1	A	G	17: 75,670,357 (GRCm39)	N1466S	probably benign	Het
Metrn	A	T	17: 26,015,514 (GRCm39)	L67Q	probably damaging	Het
Morc1	G	A	16: 48,451,132 (GRCm39)	R937Q	probably benign	Het
Mta3	A	G	17: 84,112,003 (GRCm39)	Y577C	probably damaging	Het
Nalcn	A	G	14: 123,753,063 (GRCm39)	F308L	possibly damaging	Het
Nat8	A	T	6: 85,807,873 (GRCm39)	S87T	probably benign	Het
Oplah	A	T	15: 76,185,410 (GRCm39)		probably null	Het
Or2ak6	A	G	11: 58,592,778 (GRCm39)	N84D	probably benign	Het
Or2ak6	A	C	11: 58,592,779 (GRCm39)	N84T	possibly damaging	Het
Or7e166	A	G	9: 19,624,109 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,232,204 (GRCm39)	I668L	possibly damaging	Het
Pecr	A	G	1: 72,316,444 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,493,956 (GRCm39)	E220G	possibly damaging	Het
Pnma8b	A	G	7: 16,679,199 (GRCm39)	K61R	unknown	Het
Prl8a6	C	T	13: 27,620,179 (GRCm39)	W81*	probably null	Het
Rab33b	C	T	3: 51,392,033 (GRCm39)		probably benign	Het
Rbm33	T	A	5: 28,557,772 (GRCm39)		probably null	Het
Relch	A	G	1: 105,649,101 (GRCm39)	S747G	probably benign	Het
Reln	C	T	5: 22,308,395 (GRCm39)	V325M	possibly damaging	Het
Rheb	A	C	5: 25,008,743 (GRCm39)	D158E	probably benign	Het
Rhebl1	T	A	15: 98,778,464 (GRCm39)		probably benign	Het
Rmdn2	T	A	17: 79,975,446 (GRCm39)	Y312N	probably damaging	Het
Scamp1	T	G	13: 94,368,594 (GRCm39)	N58T	probably benign	Het
Semp2l1	A	T	1: 32,584,598 (GRCm39)	C437*	probably null	Het
Slc35a1	C	T	4: 34,683,322 (GRCm39)	V53M	probably benign	Het
Slc35f3	A	T	8: 127,115,872 (GRCm39)	L266F	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Ticrr	T	A	7: 79,344,471 (GRCm39)	S1445R	probably benign	Het
Ttc23l	T	C	15: 10,515,236 (GRCm39)	N381D	probably damaging	Het
Usp17ld	T	A	7: 102,899,781 (GRCm39)	K384*	probably null	Het
Vmn1r20	T	A	6: 57,409,050 (GRCm39)	Y125*	probably null	Het
Zfp738	G	T	13: 67,817,805 (GRCm39)	Q729K	probably benign	Het
Zfp770	T	A	2: 114,027,674 (GRCm39)	M132L	probably benign	Het

Other mutations in Ddx18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Ddx18	APN	1	121,492,315 (GRCm39)	missense	probably benign	0.00
IGL01999:Ddx18	APN	1	121,489,457 (GRCm39)	missense	probably benign	0.19
IGL03056:Ddx18	APN	1	121,492,264 (GRCm39)	missense	probably benign	0.00
IGL03388:Ddx18	APN	1	121,493,652 (GRCm39)	missense	possibly damaging	0.86
R0550:Ddx18	UTSW	1	121,483,104 (GRCm39)	missense	probably benign	0.40
R1883:Ddx18	UTSW	1	121,495,645 (GRCm39)	start gained	probably benign
R1940:Ddx18	UTSW	1	121,482,953 (GRCm39)	missense	probably damaging	1.00
R2169:Ddx18	UTSW	1	121,486,138 (GRCm39)	critical splice donor site	probably null
R3113:Ddx18	UTSW	1	121,493,877 (GRCm39)	missense	possibly damaging	0.65
R3414:Ddx18	UTSW	1	121,489,878 (GRCm39)	missense	probably benign
R3763:Ddx18	UTSW	1	121,489,106 (GRCm39)	missense	probably damaging	0.99
R4011:Ddx18	UTSW	1	121,489,810 (GRCm39)	missense	probably benign	0.01
R4293:Ddx18	UTSW	1	121,489,121 (GRCm39)	missense	probably benign	0.10
R4333:Ddx18	UTSW	1	121,492,331 (GRCm39)	missense	probably benign	0.01
R4964:Ddx18	UTSW	1	121,493,823 (GRCm39)	missense	probably benign	0.00
R5160:Ddx18	UTSW	1	121,493,608 (GRCm39)	critical splice donor site	probably null
R5187:Ddx18	UTSW	1	121,489,857 (GRCm39)	missense	probably damaging	0.98
R5656:Ddx18	UTSW	1	121,489,087 (GRCm39)	missense	probably damaging	1.00
R7949:Ddx18	UTSW	1	121,483,047 (GRCm39)	missense	probably damaging	1.00
R8291:Ddx18	UTSW	1	121,487,904 (GRCm39)	missense	probably damaging	0.99
R8318:Ddx18	UTSW	1	121,493,816 (GRCm39)	missense	probably benign	0.13
R9053:Ddx18	UTSW	1	121,489,135 (GRCm39)	missense	probably damaging	1.00
R9114:Ddx18	UTSW	1	121,489,267 (GRCm39)	missense	probably damaging	1.00
R9621:Ddx18	UTSW	1	121,489,132 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACCCTGAGTCGAGAAAGC -3'
(R):5'- GGAAATTCGGTCTCCAAAGGG -3'

Sequencing Primer
(F):5'- CTGAGTCGAGAAAGCCACGC -3'
(R):5'- AACTGTTTCCGCCCGAAG -3'

Posted On

2016-07-06