Mutagenetix > Incidental Mutation

Incidental Mutation 'R5656:Ddx18'

442301

Institutional Source

Beutler Lab

Gene Symbol

Ddx18

Ensembl Gene

ENSMUSG00000001674

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 18

Synonyms

MMRRC Submission

043302-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R5656 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121553835-121567989 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121561358 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 320 (L320Q)

Ref Sequence

ENSEMBL: ENSMUSP00000001724 (fasta)

Gene Model

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

AlphaFold

Q8K363

Predicted Effect

probably damaging
Transcript: ENSMUST00000001724
AA Change: L320Q

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

SMART Domains

Protein: ENSMUSP00000001724
Gene: ENSMUSG00000001674
AA Change: L320Q

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148809

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 105,709,512 (GRCm38)	S139G	probably benign	Het
Adrb3	T	C	8: 27,227,377 (GRCm38)	D348G	probably damaging	Het
Atg2b	A	G	12: 105,621,328 (GRCm38)	V1959A	probably benign	Het
Bicral	G	A	17: 46,808,369 (GRCm38)	T742M	probably damaging	Het
Bub1b	T	A	2: 118,605,431 (GRCm38)	I60N	probably damaging	Het
Ccdc162	A	G	10: 41,569,934 (GRCm38)	V414A	probably benign	Het
Cd22	T	G	7: 30,869,773 (GRCm38)	Y612S	probably damaging	Het
Cd68	T	A	11: 69,664,421 (GRCm38)	I320F	probably damaging	Het
Clca3a2	A	T	3: 144,797,632 (GRCm38)	N852K	probably benign	Het
Cpa6	T	A	1: 10,329,514 (GRCm38)	H363L	probably benign	Het
Dnah5	A	G	15: 28,421,064 (GRCm38)	D3849G	probably benign	Het
Eci1	T	A	17: 24,437,309 (GRCm38)	N164K	probably damaging	Het
Efs	T	C	14: 54,917,127 (GRCm38)	T552A	probably damaging	Het
Fbp1	C	A	13: 62,875,196 (GRCm38)	V96L	probably damaging	Het
Gtf3c1	T	A	7: 125,662,654 (GRCm38)	N1139I	probably benign	Het
Gucy1b2	T	C	14: 62,422,981 (GRCm38)	Y152C	probably damaging	Het
Gxylt1	A	T	15: 93,245,661 (GRCm38)	L362Q	probably damaging	Het
Iqcd	A	G	5: 120,605,126 (GRCm38)		probably null	Het
Klhl41	T	A	2: 69,683,532 (GRCm38)	I585N	possibly damaging	Het
Map6	A	G	7: 99,336,298 (GRCm38)	K470E	probably damaging	Het
Mast3	T	C	8: 70,786,221 (GRCm38)	T496A	probably damaging	Het
Mbd6	A	T	10: 127,285,286 (GRCm38)		probably benign	Het
Melk	A	G	4: 44,312,237 (GRCm38)	K183R	possibly damaging	Het
Mta1	T	C	12: 113,123,139 (GRCm38)	V152A	probably damaging	Het
Naa35	G	A	13: 59,622,866 (GRCm38)		probably benign	Het
Nav3	A	C	10: 109,764,633 (GRCm38)	S1378A	probably damaging	Het
Ncapd3	T	A	9: 27,051,645 (GRCm38)	D415E	possibly damaging	Het
Nlrp4f	G	A	13: 65,190,871 (GRCm38)	R651*	probably null	Het
Olfr1480	A	G	19: 13,530,380 (GRCm38)	T280A	probably benign	Het
Olfr397	T	A	11: 73,964,710 (GRCm38)	M34K	probably damaging	Het
Olfr497	A	G	7: 108,422,618 (GRCm38)	I16V	probably benign	Het
P2rx7	A	T	5: 122,673,717 (GRCm38)	R364W	probably damaging	Het
Phactr2	T	C	10: 13,388,703 (GRCm38)	D2G	probably benign	Het
Phc3	G	T	3: 30,965,866 (GRCm38)	S28R	probably damaging	Het
Ppfia1	A	T	7: 144,519,974 (GRCm38)		probably null	Het
Prdm10	C	T	9: 31,353,417 (GRCm38)	T667M	probably benign	Het
Pwwp2b	T	A	7: 139,255,971 (GRCm38)	S443T	possibly damaging	Het
Pzp	T	C	6: 128,490,072 (GRCm38)	T1113A	probably damaging	Het
Rapgef6	A	G	11: 54,636,136 (GRCm38)	E551G	possibly damaging	Het
Sec23ip	A	G	7: 128,776,784 (GRCm38)	Y774C	probably damaging	Het
Setdb2	T	C	14: 59,419,118 (GRCm38)	D266G	probably damaging	Het
Shank1	T	C	7: 44,352,886 (GRCm38)	V1343A	probably benign	Het
Slf2	T	A	19: 44,973,235 (GRCm38)	D1064E	probably benign	Het
Slu7	A	G	11: 43,443,418 (GRCm38)	K424E	probably benign	Het
Smg1	A	T	7: 118,154,664 (GRCm38)		probably benign	Het
Sptlc2	A	T	12: 87,346,761 (GRCm38)	L264Q	probably damaging	Het
Sra1	A	G	18: 36,678,407 (GRCm38)	S93P	probably damaging	Het
Sult1c1	T	C	17: 53,964,652 (GRCm38)	E169G	probably benign	Het
Sv2a	A	G	3: 96,185,572 (GRCm38)	D196G	probably damaging	Het
Tbc1d22b	A	G	17: 29,594,780 (GRCm38)	I362M	probably damaging	Het
Tenm3	T	C	8: 48,228,762 (GRCm38)	D2611G	probably damaging	Het
Tmem43	T	C	6: 91,480,708 (GRCm38)	F191L	probably benign	Het
Trbv13-2	T	A	6: 41,121,694 (GRCm38)	Y68N	probably benign	Het
Ttn	T	G	2: 76,774,654 (GRCm38)	D18312A	possibly damaging	Het
Ublcp1	A	G	11: 44,465,606 (GRCm38)	V95A	probably damaging	Het
Usp17ld	A	G	7: 103,250,840 (GRCm38)	V295A	probably damaging	Het
Vmn1r29	T	A	6: 58,308,167 (GRCm38)	L291M	possibly damaging	Het
Vsig10l	C	T	7: 43,464,151 (GRCm38)	R176*	probably null	Het
Zbtb46	A	G	2: 181,423,417 (GRCm38)		probably null	Het
Zfp644	A	G	5: 106,637,982 (GRCm38)	V233A	probably benign	Het

Other mutations in Ddx18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Ddx18	APN	1	121,564,586 (GRCm38)	missense	probably benign	0.00
IGL01999:Ddx18	APN	1	121,561,728 (GRCm38)	missense	probably benign	0.19
IGL03056:Ddx18	APN	1	121,564,535 (GRCm38)	missense	probably benign	0.00
IGL03388:Ddx18	APN	1	121,565,923 (GRCm38)	missense	possibly damaging	0.86
R0550:Ddx18	UTSW	1	121,555,375 (GRCm38)	missense	probably benign	0.40
R1883:Ddx18	UTSW	1	121,567,916 (GRCm38)	start gained	probably benign
R1940:Ddx18	UTSW	1	121,555,224 (GRCm38)	missense	probably damaging	1.00
R2169:Ddx18	UTSW	1	121,558,409 (GRCm38)	critical splice donor site	probably null
R3113:Ddx18	UTSW	1	121,566,148 (GRCm38)	missense	possibly damaging	0.65
R3414:Ddx18	UTSW	1	121,562,149 (GRCm38)	missense	probably benign
R3763:Ddx18	UTSW	1	121,561,377 (GRCm38)	missense	probably damaging	0.99
R4011:Ddx18	UTSW	1	121,562,081 (GRCm38)	missense	probably benign	0.01
R4293:Ddx18	UTSW	1	121,561,392 (GRCm38)	missense	probably benign	0.10
R4333:Ddx18	UTSW	1	121,564,602 (GRCm38)	missense	probably benign	0.01
R4964:Ddx18	UTSW	1	121,566,094 (GRCm38)	missense	probably benign	0.00
R5160:Ddx18	UTSW	1	121,565,879 (GRCm38)	critical splice donor site	probably null
R5187:Ddx18	UTSW	1	121,562,128 (GRCm38)	missense	probably damaging	0.98
R5259:Ddx18	UTSW	1	121,567,789 (GRCm38)	critical splice donor site	probably null
R7949:Ddx18	UTSW	1	121,555,318 (GRCm38)	missense	probably damaging	1.00
R8291:Ddx18	UTSW	1	121,560,175 (GRCm38)	missense	probably damaging	0.99
R8318:Ddx18	UTSW	1	121,566,087 (GRCm38)	missense	probably benign	0.13
R9053:Ddx18	UTSW	1	121,561,406 (GRCm38)	missense	probably damaging	1.00
R9114:Ddx18	UTSW	1	121,561,538 (GRCm38)	missense	probably damaging	1.00
R9621:Ddx18	UTSW	1	121,561,403 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAGTCAACAGGCCCACATTC -3'
(R):5'- CCTTTGGTGTTCTCAAGGAGC -3'

Sequencing Primer
(F):5'- ACATTCCTCATGTGGCCATAG -3'
(R):5'- TTCTCAAGGAGCTGATGACGC -3'

Posted On

2016-11-09