Mutagenetix > Incidental Mutations

Incidental Mutation 'R8093:Ddx55'

629988

Institutional Source

Beutler Lab

Gene Symbol

Ddx55

Ensembl Gene

ENSMUSG00000029389

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 55

Synonyms

2810021H22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8093 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124552864-124569660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124556820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 104 (H104N)

Ref Sequence

ENSEMBL: ENSMUSP00000070279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071057] [ENSMUST00000111438] [ENSMUST00000131631]

AlphaFold

Q6ZPL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071057
AA Change: H104N

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389
AA Change: H104N

Domain	Start	End	E-Value	Type
DEXDc	28	245	3.15e-51	SMART
HELICc	281	363	3.69e-25	SMART
DUF4217	402	465	1.44e-26	SMART
low complexity region	491	506	N/A	INTRINSIC
low complexity region	517	540	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111438
AA Change: H104N

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389
AA Change: H104N

Domain	Start	End	E-Value	Type
DEXDc	28	245	3.15e-51	SMART
HELICc	281	363	3.69e-25	SMART
DUF4217	398	461	1.44e-26	SMART
low complexity region	487	502	N/A	INTRINSIC
low complexity region	513	536	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131631

SMART Domains

Protein: ENSMUSP00000143462
Gene: ENSMUSG00000029389

Domain	Start	End	E-Value	Type
Pfam:DEAD	33	125	6.4e-12	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.2%
20x: 98.3%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,851,504	T745S	possibly damaging	Het
Abca12	T	C	1: 71,280,393	I1777V	probably benign	Het
Abhd6	T	C	14: 8,028,353	L28P	probably damaging	Het
Angpt1	T	A	15: 42,476,477	E279D	probably benign	Het
Arfgef2	A	G	2: 166,894,657	M1750V	probably benign	Het
Atrn	T	C	2: 130,975,988	F821L	probably benign	Het
Cbx3	A	G	6: 51,481,768	E71G	possibly damaging	Het
Ccdc14	G	A	16: 34,709,652	A482T	probably damaging	Het
Cdh15	G	T	8: 122,866,835	A723S	probably damaging	Het
Cyp2a12	A	G	7: 27,036,629	S488G	probably damaging	Het
Det1	G	T	7: 78,843,509	T249N	possibly damaging	Het
Disp3	A	G	4: 148,270,516	S348P	possibly damaging	Het
Dnah6	T	G	6: 73,160,913	N936T	probably damaging	Het
Dnajc11	A	T	4: 151,969,900	N188Y	probably damaging	Het
Etaa1	G	A	11: 17,947,559	T186I	possibly damaging	Het
Fam160a1	T	C	3: 85,672,804	D698G	probably benign	Het
Ftl1-ps1	T	A	13: 74,407,019	V139E	probably benign	Het
Fzd10	A	G	5: 128,602,239	K341R	probably benign	Het
Galnt7	A	G	8: 57,532,705	Y544H	probably benign	Het
Gm11487	A	T	4: 73,403,522	V92E	probably damaging	Het
Gm21190	T	A	5: 15,525,816	I181F	possibly damaging	Het
Gm3604	T	C	13: 62,369,549	N332D	probably damaging	Het
Gm47996	G	T	1: 151,210,304	E45D	possibly damaging	Het
Gm5475	T	A	15: 100,424,012	L14Q	unknown	Het
Gmcl1	G	T	6: 86,721,426	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Gpr182	T	C	10: 127,750,914	Y56C	probably damaging	Het
Gxylt2	T	A	6: 100,733,227	W110R	probably damaging	Het
Hivep3	G	T	4: 120,095,435	R316L	possibly damaging	Het
Hnf1a	T	C	5: 114,955,277	T310A	probably benign	Het
Igkv6-32	A	G	6: 70,074,563	F8L	probably benign	Het
Kcnq1	A	G	7: 143,362,652	N550D	probably damaging	Het
Lrrc40	T	G	3: 158,051,782	Y249*	probably null	Het
Lrrc43	T	A	5: 123,501,129	M407K	probably benign	Het
Map2k6	A	C	11: 110,482,585	E21D	probably benign	Het
Mcoln1	T	A	8: 3,508,740	I246N	possibly damaging	Het
Myh2	A	G	11: 67,188,710	K998E	probably damaging	Het
Myo1b	C	T	1: 51,757,875		probably null	Het
Numbl	T	A	7: 27,281,036	M481K	possibly damaging	Het
Nxpe4	G	T	9: 48,396,552	V319F	probably benign	Het
Pam	C	A	1: 97,885,632	D358Y	probably damaging	Het
Papola	A	G	12: 105,809,577	M251V	probably damaging	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Prelid2	A	G	18: 41,932,635	S112P	probably damaging	Het
Ptgfrn	T	C	3: 101,056,437	T620A	probably benign	Het
Ptgfrn	C	T	3: 101,072,941	R361Q	probably benign	Het
Pygm	T	A	19: 6,386,042	M148K	probably damaging	Het
Ren1	T	A	1: 133,360,074	I382N	probably damaging	Het
Rev1	T	C	1: 38,075,016		probably benign	Het
Sdsl	T	C	5: 120,459,952	K159E	probably benign	Het
Serinc4	T	C	2: 121,454,953	N203S	possibly damaging	Het
Slc12a2	A	G	18: 57,879,351	H182R	probably benign	Het
Sned1	C	A	1: 93,274,665	T677K	possibly damaging	Het
Ston2	G	A	12: 91,743,686	T3I	probably damaging	Het
Tnf	T	C	17: 35,201,096	T77A	probably benign	Het
Trav6-2	G	A	14: 52,667,669	G49E	probably benign	Het
Trav7-4	A	T	14: 53,461,683	I96F	probably damaging	Het
Trmu	T	A	15: 85,882,720	D43E	probably benign	Het
Uggt1	T	A	1: 36,227,485	Q136L	probably damaging	Het
Ugt1a5	T	A	1: 88,166,582	Y177*	probably null	Het
Vmn1r126	T	C	7: 21,300,591	R293G	probably damaging	Het
Vmn2r89	A	G	14: 51,456,242	I350V	probably benign	Het
Vps11	A	T	9: 44,356,232	L361Q	probably damaging	Het
Zfp467	A	G	6: 48,443,432	L5P	possibly damaging	Het
Zfp652	A	G	11: 95,749,462	H71R	probably damaging	Het
Zfp804b	T	C	5: 6,770,082	K994E	probably benign	Het

Other mutations in Ddx55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02237:Ddx55	APN	5	124567895	missense	probably damaging	1.00
IGL03356:Ddx55	APN	5	124554753	missense	possibly damaging	0.95
R0100:Ddx55	UTSW	5	124556782	missense	probably damaging	1.00
R0100:Ddx55	UTSW	5	124556782	missense	probably damaging	1.00
R0329:Ddx55	UTSW	5	124559147	missense	probably benign	0.00
R0401:Ddx55	UTSW	5	124567951	missense	probably damaging	1.00
R1604:Ddx55	UTSW	5	124559306	missense	probably damaging	1.00
R1760:Ddx55	UTSW	5	124568113	missense	probably damaging	0.99
R2002:Ddx55	UTSW	5	124566440	missense	probably damaging	1.00
R2292:Ddx55	UTSW	5	124568077	missense	probably benign	0.00
R4677:Ddx55	UTSW	5	124567934	missense	probably benign	0.04
R4735:Ddx55	UTSW	5	124566476	missense	probably damaging	1.00
R4745:Ddx55	UTSW	5	124566965	nonsense	probably null
R4941:Ddx55	UTSW	5	124568716	nonsense	probably null
R5272:Ddx55	UTSW	5	124558029	missense	possibly damaging	0.91
R5348:Ddx55	UTSW	5	124554565	missense	probably damaging	0.96
R5514:Ddx55	UTSW	5	124556812	missense	probably damaging	1.00
R5801:Ddx55	UTSW	5	124566497	critical splice donor site	probably null
R5806:Ddx55	UTSW	5	124559199	missense	probably damaging	1.00
R5869:Ddx55	UTSW	5	124568682	missense	probably benign
R5909:Ddx55	UTSW	5	124566850	missense	probably benign	0.00
R6594:Ddx55	UTSW	5	124566925	missense	probably damaging	1.00
R6737:Ddx55	UTSW	5	124552945	missense	probably damaging	1.00
R7257:Ddx55	UTSW	5	124560721	missense	possibly damaging	0.67
R7262:Ddx55	UTSW	5	124566856	missense	probably benign
R8049:Ddx55	UTSW	5	124556758	missense	probably damaging	0.96
R8078:Ddx55	UTSW	5	124566388	missense	probably damaging	1.00
R8465:Ddx55	UTSW	5	124559121	splice site	probably null
R8944:Ddx55	UTSW	5	124568725	missense	probably damaging	0.98
R9007:Ddx55	UTSW	5	124559307	missense	probably damaging	0.99
R9305:Ddx55	UTSW	5	124566949	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTGTTCTGCCTCTGAGCTG -3'
(R):5'- ACATCTTCTCCAGGGTTCCG -3'

Sequencing Primer
(F):5'- CAAAGCTCTTGATTTGCTGAGACCG -3'
(R):5'- AGGGTTCCGGCCTCCAATC -3'

Posted On

2020-06-30