Mutagenetix > Incidental Mutation

Incidental Mutation 'R0401:Ddx55'

38201

Institutional Source

Beutler Lab

Gene Symbol

Ddx55

Ensembl Gene

ENSMUSG00000029389

Gene Name

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

Synonyms

2810021H22Rik

MMRRC Submission

038606-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124552864-124569660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124567951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 480 (I480F)

Ref Sequence

ENSEMBL: ENSMUSP00000107065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031334] [ENSMUST00000071057] [ENSMUST00000111438] [ENSMUST00000131631]

AlphaFold

Q6ZPL9

Predicted Effect

probably benign
Transcript: ENSMUST00000031334

SMART Domains

Protein: ENSMUSP00000031334
Gene: ENSMUSG00000029388

Domain	Start	End	E-Value	Type
Pfam:IF-2B	14	293	2.3e-81	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000071057
AA Change: I484F

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

SMART Domains

Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389
AA Change: I484F

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

probably damaging
Transcript: ENSMUST00000111438
AA Change: I480F

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

SMART Domains

Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389
AA Change: I480F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142451

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152716

Meta Mutation Damage Score

0.1526

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (90/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,070,306	H1752L	possibly damaging	Het
8030462N17Rik	C	A	18: 77,673,962	S218I	probably damaging	Het
A530099J19Rik	A	T	13: 19,729,494		noncoding transcript	Het
Abcc5	T	C	16: 20,376,558	K730E	probably benign	Het
Ahnak	A	G	19: 9,015,116	D4588G	probably benign	Het
AI467606	G	A	7: 127,092,436	R61H	probably damaging	Het
Apoa4	T	A	9: 46,243,058	V319E	probably damaging	Het
Atad5	T	A	11: 80,120,699	D1297E	probably benign	Het
BC005624	G	A	2: 30,980,009	T62I	probably benign	Het
Bcl6	T	C	16: 23,972,594	K337E	probably damaging	Het
Cad	T	A	5: 31,073,986		probably benign	Het
Ccdc73	T	C	2: 104,991,289	S528P	probably benign	Het
Ccng2	T	G	5: 93,273,413	C261G	possibly damaging	Het
Cdh11	A	T	8: 102,674,006	I110N	probably damaging	Het
Cgnl1	A	G	9: 71,705,239	V767A	probably damaging	Het
Cit	A	G	5: 115,985,479	T1460A	probably benign	Het
Clec4b2	C	T	6: 123,181,300	Q42*	probably null	Het
Clip1	A	G	5: 123,653,789	V106A	probably damaging	Het
Crb1	T	C	1: 139,198,791		probably benign	Het
Cts6	T	C	13: 61,198,339		probably benign	Het
Cul9	T	C	17: 46,541,704	E244G	probably damaging	Het
Dixdc1	A	G	9: 50,693,674	S17P	possibly damaging	Het
Drosha	T	A	15: 12,926,031	Y1235*	probably null	Het
Dsg2	G	T	18: 20,592,508		probably benign	Het
E2f5	T	C	3: 14,579,025		probably null	Het
Epc2	A	G	2: 49,528,974	T265A	probably damaging	Het
Etaa1	T	G	11: 17,947,514	D201A	probably damaging	Het
Fancd2	T	C	6: 113,548,343	I260T	possibly damaging	Het
Fhdc1	G	A	3: 84,444,624	A1098V	probably benign	Het
Gm17689	G	T	9: 36,582,628	A3E	unknown	Het
Gm7030	C	T	17: 36,128,705	V128M	probably damaging	Het
Gpd2	G	A	2: 57,340,093	V286I	possibly damaging	Het
Herc2	A	C	7: 56,157,732	E2523A	probably damaging	Het
Jmjd1c	G	A	10: 67,220,382	R527H	probably damaging	Het
Kif12	G	A	4: 63,169,525		probably benign	Het
Lrp2	A	T	2: 69,479,148	N2802K	probably damaging	Het
Mab21l2	C	G	3: 86,546,989	G235R	probably benign	Het
Mapk8	T	C	14: 33,382,208	E417G	probably benign	Het
Mapk8ip3	G	A	17: 24,909,171		probably benign	Het
Mettl1	A	G	10: 127,045,077	T203A	probably benign	Het
Mettl9	T	C	7: 121,076,313	V312A	probably damaging	Het
Mex3d	A	G	10: 80,386,894	V176A	probably benign	Het
Mmp3	T	C	9: 7,449,790	S225P	probably damaging	Het
Mrvi1	G	A	7: 110,876,897	P757S	probably benign	Het
Neb	G	A	2: 52,188,677		probably benign	Het
Ninj2	C	T	6: 120,198,051	A51V	possibly damaging	Het
Nle1	A	G	11: 82,905,379		probably benign	Het
Nol9	T	C	4: 152,052,605	Y532H	probably benign	Het
Nr2c1	T	A	10: 94,171,158	V286E	probably benign	Het
Olfr1183	T	G	2: 88,461,925	L195R	probably damaging	Het
Olfr1272	A	T	2: 90,282,404	M57K	probably damaging	Het
Olfr308	T	C	7: 86,321,292	Y220C	probably benign	Het
Olfr481	T	A	7: 108,080,872	I26N	possibly damaging	Het
Olfr670	T	A	7: 104,959,943	H263L	probably damaging	Het
Olfr816	A	G	10: 129,911,916	Y121H	probably benign	Het
Olfr827	A	G	10: 130,210,620	L170P	probably damaging	Het
Ovch2	A	T	7: 107,801,136	V15D	probably damaging	Het
Pclo	T	G	5: 14,681,734	S3417A	unknown	Het
Pet2	C	A	X: 89,405,209	R438L	probably benign	Het
Pex1	T	A	5: 3,633,759	M1085K	probably damaging	Het
Plscr2	T	C	9: 92,282,135	S6P	probably benign	Het
Pogz	C	T	3: 94,877,025	P722S	possibly damaging	Het
Pom121l2	A	T	13: 21,982,225	D222V	probably benign	Het
Prpf40a	T	C	2: 53,159,313	Y179C	probably damaging	Het
R3hdm2	A	G	10: 127,458,173	I179V	possibly damaging	Het
Ranbp9	A	C	13: 43,422,658	V355G	probably damaging	Het
Rims2	T	C	15: 39,509,632		probably benign	Het
Ryr2	A	T	13: 11,705,684	S2693T	probably benign	Het
Sbno1	G	A	5: 124,410,285	T111I	probably damaging	Het
Sdk1	A	C	5: 142,046,161	N997T	possibly damaging	Het
Setx	G	T	2: 29,166,289	E39*	probably null	Het
Skint7	T	A	4: 111,980,362	N112K	probably damaging	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a10	A	T	2: 62,190,848	D80V	probably benign	Het
Susd2	C	A	10: 75,638,603		probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcf3	G	T	10: 80,421,158	S77R	probably damaging	Het
Tdpoz3	T	C	3: 93,826,365	Y116H	probably benign	Het
Tex26	C	A	5: 149,460,858	D164E	probably benign	Het
Thoc5	G	A	11: 4,902,213		probably benign	Het
Tiparp	A	G	3: 65,531,436	R58G	probably benign	Het
Trim66	A	T	7: 109,475,264	C597S	probably damaging	Het
Ugt2a3	T	A	5: 87,336,490	Q225L	probably benign	Het
Vmn1r25	T	A	6: 57,978,711	I198L	probably benign	Het
Vmn2r106	A	T	17: 20,279,019	V210D	possibly damaging	Het
Vmn2r124	T	C	17: 18,064,145	F483L	probably damaging	Het
Vmn2r78	A	G	7: 86,921,311	K346E	probably benign	Het
Zfhx4	T	A	3: 5,401,161	S2126R	possibly damaging	Het
Zfp608	C	T	18: 54,898,994	G625R	probably benign	Het
Zkscan5	A	G	5: 145,212,575	D234G	probably damaging	Het
Zscan10	T	A	17: 23,605,915	V115E	probably damaging	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
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
R8093:Ddx55	UTSW	5	124556820	missense	possibly damaging	0.48
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
R9561:Ddx55	UTSW	5	124568644	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- GGCCTGTTAGGGTTAGTGTCCTCTAAA -3'
(R):5'- ATGTCTTCCCAGTGCAATGTCACAA -3'

Sequencing Primer
(F):5'- agttcaaatcccagcaccc -3'
(R):5'- CTTCTGCTTCGACCAAGCT -3'

Posted On

2013-05-23