Mutagenetix > Incidental Mutation

Incidental Mutation 'R7949:Ddx18'

649444

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

045994-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7949 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121481564-121495709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121483047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 580 (Y580H)

Ref Sequence

ENSEMBL: ENSMUSP00000001724 (fasta)

Gene Model

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

AlphaFold

Q8K363

Predicted Effect

probably damaging
Transcript: ENSMUST00000001724
AA Change: Y580H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001724
Gene: ENSMUSG00000001674
AA Change: Y580H

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

probably benign
Transcript: ENSMUST00000134417

SMART Domains

Protein: ENSMUSP00000114149
Gene: ENSMUSG00000001674

Domain	Start	End	E-Value	Type
Blast:DEXDc	2	47	2e-22	BLAST
HELICc	65	146	2.84e-26	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (47/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,303,353 (GRCm39)	T6111M	probably damaging	Het
Adprhl1	T	G	8: 13,274,225 (GRCm39)	R844S	possibly damaging	Het
Aldh1b1	A	G	4: 45,802,807 (GRCm39)	E115G	possibly damaging	Het
Anp32a	A	G	9: 62,280,948 (GRCm39)	E170G	unknown	Het
Arhgap27	A	G	11: 103,228,595 (GRCm39)	S349P	probably damaging	Het
Asns	T	A	6: 7,685,328 (GRCm39)	I110F	probably damaging	Het
Atad3a	T	C	4: 155,833,152 (GRCm39)	H437R	possibly damaging	Het
Atl2	C	A	17: 80,167,289 (GRCm39)	R244L	probably damaging	Het
Bcl2l14	A	T	6: 134,407,083 (GRCm39)	D222V	probably damaging	Het
Ccdc102a	G	T	8: 95,631,913 (GRCm39)	Q498K	probably damaging	Het
Cdc14b	T	C	13: 64,338,212 (GRCm39)		probably null	Het
Cdcp3	G	A	7: 130,895,324 (GRCm39)		probably null	Het
Cep162	T	A	9: 87,088,901 (GRCm39)	M994L	probably benign	Het
Entpd6	C	A	2: 150,612,197 (GRCm39)		probably null	Het
Fer	T	A	17: 64,440,503 (GRCm39)	S707T	probably damaging	Het
Gabra6	A	G	11: 42,207,826 (GRCm39)	V215A	probably benign	Het
Gm20671	A	G	5: 32,977,288 (GRCm39)	V142A	probably benign	Het
Gtf3c1	G	T	7: 125,250,253 (GRCm39)	N1439K	probably benign	Het
Igbp1b	T	C	6: 138,635,414 (GRCm39)	K10R	probably benign	Het
Ighv5-8	TATATATATATATATATATATATA	TATATATATATATATATATATATATA	12: 113,618,563 (GRCm39)		probably null	Het
Igkv12-44	A	T	6: 69,791,874 (GRCm39)	S30T	probably benign	Het
Immt	A	T	6: 71,851,327 (GRCm39)	R563*	probably null	Het
Jakmip1	A	T	5: 37,339,492 (GRCm39)	Q1231L	probably damaging	Het
Jsrp1	T	C	10: 80,647,906 (GRCm39)	T51A	probably benign	Het
Krtap31-1	A	G	11: 99,799,144 (GRCm39)	T116A	possibly damaging	Het
Lrp8	T	A	4: 107,660,524 (GRCm39)	D61E	probably damaging	Het
Mark2	T	C	19: 7,262,081 (GRCm39)	D311G	probably benign	Het
Men1	C	T	19: 6,388,323 (GRCm39)	S314L	possibly damaging	Het
Nxpe2	T	C	9: 48,234,397 (GRCm39)	N290S	possibly damaging	Het
Or2f2	T	C	6: 42,767,588 (GRCm39)	V205A	possibly damaging	Het
Or5b105	T	A	19: 13,080,610 (GRCm39)		probably null	Het
Pcolce2	A	T	9: 95,576,688 (GRCm39)	T320S	probably benign	Het
Phc2	C	T	4: 128,603,401 (GRCm39)	T177M	probably damaging	Het
Phf21b	G	T	15: 84,676,036 (GRCm39)	P337H	probably damaging	Het
Pinlyp	G	T	7: 24,245,375 (GRCm39)	T15K	probably damaging	Het
Ppox	A	T	1: 171,105,521 (GRCm39)	S307R	probably benign	Het
Ptk7	T	A	17: 46,897,387 (GRCm39)	E315V	possibly damaging	Het
Pxk	T	C	14: 8,144,233 (GRCm38)	I327T	probably damaging	Het
Rabgap1	A	T	2: 37,453,491 (GRCm39)	K973I	probably benign	Het
Rbbp8	A	T	18: 11,851,892 (GRCm39)	I238L	probably benign	Het
Runx2	T	A	17: 45,046,442 (GRCm39)	D109V	possibly damaging	Het
Serpinb6a	G	A	13: 34,107,003 (GRCm39)	S183L	probably benign	Het
Slco1a8	C	A	6: 141,939,991 (GRCm39)	G171C	probably damaging	Het
Sptlc3	T	C	2: 139,467,795 (GRCm39)	I451T	possibly damaging	Het
Sugp1	A	T	8: 70,509,153 (GRCm39)	Y142F	possibly damaging	Het
Sumf2	T	C	5: 129,881,759 (GRCm39)	F98S	probably damaging	Het
Tmem120a	C	T	5: 135,771,220 (GRCm39)	E39K	possibly damaging	Het
Tnxb	C	T	17: 34,936,103 (GRCm39)	P2680L	probably damaging	Het
Zfp78	C	G	7: 6,382,365 (GRCm39)	R472G	possibly damaging	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
R5259:Ddx18	UTSW	1	121,495,518 (GRCm39)	critical splice donor site	probably null
R5656:Ddx18	UTSW	1	121,489,087 (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'- TCCAACTTACTGCAGAGCC -3'
(R):5'- ATGCTGGCTTGGACTCTGAG -3'

Sequencing Primer
(F):5'- TTACTGCAGAGCCCCAGCAG -3'
(R):5'- AACCTCAGTCTGGCACCTGTG -3'

Posted On

2020-09-15