Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03388:Ddx18'

420956

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx18

Ensembl Gene

ENSMUSG00000001674

Gene Name

DEAD box helicase 18

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

IGL03388

Quality Score

Status

Chromosome

Chromosomal Location

121481564-121495709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121493652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 111 (K111E)

Ref Sequence

ENSEMBL: ENSMUSP00000001724 (fasta)

Gene Model

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

AlphaFold

Q8K363

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001724
AA Change: K111E

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001724
Gene: ENSMUSG00000001674
AA Change: K111E

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

Coding Region Coverage

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

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	C	11: 117,693,596 (GRCm39)		probably benign	Het
B3gnt5	A	G	16: 19,588,801 (GRCm39)	K340R	possibly damaging	Het
Ccr3	A	G	9: 123,828,658 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,560,992 (GRCm39)		probably benign	Het
Clasp1	T	A	1: 118,433,233 (GRCm39)	D237E	possibly damaging	Het
Defa21	T	C	8: 21,515,764 (GRCm39)	L54P	probably damaging	Het
Dennd3	T	C	15: 73,416,208 (GRCm39)	V486A	probably damaging	Het
Dnah9	T	A	11: 65,838,368 (GRCm39)	D3143V	probably damaging	Het
Dnm1l	A	G	16: 16,131,916 (GRCm39)		probably benign	Het
Epb41	T	C	4: 131,702,105 (GRCm39)	Y510C	probably damaging	Het
Fat4	T	C	3: 39,011,376 (GRCm39)	Y2159H	probably damaging	Het
Fmo1	A	G	1: 162,663,716 (GRCm39)	V271A	probably benign	Het
Gm12185	A	G	11: 48,799,113 (GRCm39)	V460A	probably benign	Het
Hspa8	T	C	9: 40,716,224 (GRCm39)		probably benign	Het
Hspb7	A	G	4: 141,151,356 (GRCm39)	E166G	probably damaging	Het
Il31ra	C	A	13: 112,682,746 (GRCm39)	S120I	probably damaging	Het
Kdm5b	A	G	1: 134,555,060 (GRCm39)	T1323A	probably benign	Het
Lgals9	T	A	11: 78,854,247 (GRCm39)	I346F	probably damaging	Het
Lgi2	T	C	5: 52,695,819 (GRCm39)	D372G	probably damaging	Het
Magi3	A	C	3: 103,923,157 (GRCm39)	S1187A	probably benign	Het
Nr1d2	A	G	14: 18,215,403 (GRCm38)	F203S	probably benign	Het
Nup210l	G	A	3: 90,077,351 (GRCm39)	V896I	probably damaging	Het
Nxf7	T	C	X: 134,485,489 (GRCm39)	K440E	probably damaging	Het
Or6c206	A	T	10: 129,097,312 (GRCm39)	I161F	probably benign	Het
Or9i1b	T	A	19: 13,896,984 (GRCm39)	V200D	probably damaging	Het
Pcdhb6	T	C	18: 37,469,190 (GRCm39)	S20P	probably damaging	Het
Per2	G	T	1: 91,372,511 (GRCm39)		probably benign	Het
Pi15	G	A	1: 17,673,001 (GRCm39)	A67T	probably benign	Het
Pnp2	A	T	14: 51,200,995 (GRCm39)	N160I	probably damaging	Het
Ppp1r12c	A	G	7: 4,485,069 (GRCm39)		probably benign	Het
Rabgap1l	A	T	1: 160,561,093 (GRCm39)		probably null	Het
Rnf115	G	A	3: 96,695,984 (GRCm39)	V257M	probably damaging	Het
Rtkn	T	A	6: 83,127,071 (GRCm39)	V346D	probably benign	Het
Rubcn	A	T	16: 32,661,938 (GRCm39)	N427K	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Sel1l2	A	C	2: 140,105,284 (GRCm39)		probably benign	Het
Septin4	T	A	11: 87,459,042 (GRCm39)	L472*	probably null	Het
Slc5a5	A	G	8: 71,342,972 (GRCm39)	V196A	probably benign	Het
Sox13	A	T	1: 133,316,686 (GRCm39)	L207H	probably damaging	Het
Tmtc2	A	G	10: 105,157,344 (GRCm39)		probably benign	Het
Trip12	T	C	1: 84,720,907 (GRCm39)	K1409R	probably damaging	Het
Ttn	C	T	2: 76,797,481 (GRCm39)	A528T	probably benign	Het
Ubr4	T	C	4: 139,142,343 (GRCm39)	I1310T	probably damaging	Het
Ypel5	T	C	17: 73,153,400 (GRCm39)	F35L	probably damaging	Het
Zfp13	G	T	17: 23,795,888 (GRCm39)	R228S	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
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
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

Posted On

2016-08-02