Mutagenetix > Incidental Mutation

Incidental Mutation 'R5187:Ddx18'

397935

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

042766-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R5187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121481564-121495709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121489857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 184 (I184T)

Ref Sequence

ENSEMBL: ENSMUSP00000001724 (fasta)

Gene Model

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

AlphaFold

Q8K363

Predicted Effect

probably damaging
Transcript: ENSMUST00000001724
AA Change: I184T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000001724
Gene: ENSMUSG00000001674
AA Change: I184T

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcg5	A	G	17: 84,965,992 (GRCm39)	L628S	probably damaging	Het
Acbd3	C	T	1: 180,564,297 (GRCm39)	R201*	probably null	Het
Adsl	A	G	15: 80,833,106 (GRCm39)		probably benign	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Cachd1	T	C	4: 100,823,397 (GRCm39)	V483A	possibly damaging	Het
Calm1	T	C	12: 100,166,472 (GRCm39)	S19P	probably benign	Het
Casq1	T	C	1: 172,040,641 (GRCm39)	N313S	possibly damaging	Het
Cav2	G	T	6: 17,286,935 (GRCm39)	A64S	possibly damaging	Het
Ccdc167	C	A	17: 29,924,485 (GRCm39)	A39S	possibly damaging	Het
Cd274	T	C	19: 29,359,936 (GRCm39)	L247P	probably benign	Het
Cdhr5	T	C	7: 140,854,361 (GRCm39)	E138G	probably damaging	Het
Cltb	C	T	13: 54,741,693 (GRCm39)	C81Y	probably benign	Het
Clvs1	T	C	4: 9,281,865 (GRCm39)	L103P	possibly damaging	Het
Cntrob	G	T	11: 69,212,717 (GRCm39)	Q106K	possibly damaging	Het
Ctsh	T	C	9: 89,936,643 (GRCm39)	L14P	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Cyb5r4	T	C	9: 86,909,001 (GRCm39)	V26A	possibly damaging	Het
Ddx60	T	A	8: 62,427,222 (GRCm39)	W766R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah5	G	A	15: 28,272,318 (GRCm39)	V1041I	probably benign	Het
Dnajc21	A	T	15: 10,464,050 (GRCm39)	N38K	probably benign	Het
Ermap	T	C	4: 119,043,015 (GRCm39)		probably null	Het
Fryl	A	G	5: 73,243,943 (GRCm39)	L1209P	possibly damaging	Het
Gm5093	T	C	17: 46,750,799 (GRCm39)	E76G	possibly damaging	Het
Grk6	T	C	13: 55,599,519 (GRCm39)	C169R	probably damaging	Het
Hmgn1	A	T	16: 95,923,627 (GRCm39)		probably null	Het
Lpcat2b	T	A	5: 107,582,001 (GRCm39)	Y443*	probably null	Het
Macf1	T	A	4: 123,365,882 (GRCm39)	M1395L	probably benign	Het
Mllt10	C	T	2: 18,213,585 (GRCm39)	Q997*	probably null	Het
Mocos	T	A	18: 24,825,611 (GRCm39)	V722E	probably damaging	Het
Moxd2	A	T	6: 40,856,271 (GRCm39)	L534M	probably benign	Het
Mphosph10	T	C	7: 64,035,568 (GRCm39)	M368V	possibly damaging	Het
Myo15a	G	A	11: 60,394,440 (GRCm39)	G2383D	probably damaging	Het
Myo5b	T	C	18: 74,834,745 (GRCm39)	I935T	possibly damaging	Het
Ndst4	T	A	3: 125,231,560 (GRCm39)	L43H	probably damaging	Het
Niban1	T	A	1: 151,579,580 (GRCm39)	L433Q	possibly damaging	Het
Nsl1	A	G	1: 190,807,387 (GRCm39)	N189D	probably benign	Het
Odad1	A	G	7: 45,578,540 (GRCm39)	I77V	probably damaging	Het
Or51e1	A	T	7: 102,358,868 (GRCm39)	H134L	probably damaging	Het
Pcdh8	T	C	14: 80,007,594 (GRCm39)	D323G	probably damaging	Het
Pkhd1	A	G	1: 20,279,448 (GRCm39)	S2957P	possibly damaging	Het
Prdm9	T	G	17: 15,783,155 (GRCm39)	E42D	probably damaging	Het
Rasal1	C	A	5: 120,813,460 (GRCm39)	H611Q	probably benign	Het
Relch	T	A	1: 105,646,534 (GRCm39)	L620*	probably null	Het
Rif1	T	A	2: 51,971,301 (GRCm39)	W260R	probably damaging	Het
Rpain	A	G	11: 70,864,658 (GRCm39)	D115G	probably benign	Het
Rpl3l	T	C	17: 24,951,429 (GRCm39)	V110A	possibly damaging	Het
Ryr2	T	A	13: 11,787,338 (GRCm39)	I1012F	probably damaging	Het
Sema4f	A	G	6: 82,894,631 (GRCm39)	V480A	probably benign	Het
Slc35a3	T	A	3: 116,474,794 (GRCm39)	K199N	probably damaging	Het
Slc5a6	T	C	5: 31,200,322 (GRCm39)	Y121C	probably damaging	Het
Slc7a14	T	C	3: 31,291,514 (GRCm39)		probably null	Het
Sort1	T	A	3: 108,231,992 (GRCm39)	I172N	probably damaging	Het
Spink5	C	A	18: 44,122,518 (GRCm39)	H328N	probably damaging	Het
Tbl1xr1	A	G	3: 22,263,770 (GRCm39)	D504G	probably damaging	Het
Tcaf3	C	T	6: 42,573,954 (GRCm39)	C86Y	possibly damaging	Het
Tfap2e	T	C	4: 126,628,434 (GRCm39)	D174G	probably benign	Het
Tmem42	T	C	9: 122,851,232 (GRCm39)	V65A	probably damaging	Het
Vmn1r225	C	G	17: 20,723,177 (GRCm39)	T206R	probably damaging	Het
Vmn2r38	A	G	7: 9,100,571 (GRCm39)	F65S	probably benign	Het
Vmn2r87	A	T	10: 130,333,208 (GRCm39)	L14Q	probably null	Het
Xirp2	T	C	2: 67,345,711 (GRCm39)	S2651P	probably benign	Het
Zfp429	G	A	13: 67,538,959 (GRCm39)	L162F	probably damaging	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TGAGAACACAGGTGCCTAGCTC -3'
(R):5'- GATTCAGGCAGCCATGTGAC -3'

Sequencing Primer
(F):5'- AGTCTTCAGTATAGCCAAACAGG -3'
(R):5'- ATGTGACCACAGAGCTCTTG -3'

Posted On

2016-07-06