Mutagenetix > Incidental Mutation

Incidental Mutation 'R2002:Ddx55'

223182

Institutional Source

Beutler Lab

Gene Symbol

Ddx55

Ensembl Gene

ENSMUSG00000029389

Gene Name

DEAD box helicase 55

Synonyms

DEAD (Asp-Glu-Ala-Asp) box polypeptide 55, 2810021H22Rik

MMRRC Submission

040012-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2002 (G1)

Quality Score

112

Status

Validated

Chromosome

Chromosomal Location

124690927-124707723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124704503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 370 (V370E)

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: V370E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389
AA Change: V370E

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: V370E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389
AA Change: V370E

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

Meta Mutation Damage Score

0.9401

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.6%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	T	C	15: 46,489,002 (GRCm39)		noncoding transcript	Het
Abcb4	T	A	5: 8,955,989 (GRCm39)	S98T	probably benign	Het
Acan	T	C	7: 78,750,541 (GRCm39)	S1771P	probably damaging	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Ak2	T	A	4: 128,902,022 (GRCm39)	S232T	probably benign	Het
Akr1e1	T	A	13: 4,657,564 (GRCm39)		probably benign	Het
Ano7	T	C	1: 93,328,303 (GRCm39)		probably benign	Het
Aox1	T	A	1: 58,086,300 (GRCm39)	H68Q	possibly damaging	Het
Apaf1	A	G	10: 90,897,676 (GRCm39)	V269A	possibly damaging	Het
Apba2	A	T	7: 64,383,290 (GRCm39)	I368F	probably damaging	Het
Armc3	A	G	2: 19,293,747 (GRCm39)	M513V	probably benign	Het
Asb5	G	A	8: 55,036,655 (GRCm39)	V116M	probably damaging	Het
Atg16l2	A	G	7: 100,944,127 (GRCm39)	S280P	possibly damaging	Het
Atp6v0c	G	T	17: 24,383,835 (GRCm39)	T40K	probably damaging	Het
Cdk2ap2	A	G	19: 4,147,903 (GRCm39)	M57V	possibly damaging	Het
Cip2a	T	C	16: 48,826,214 (GRCm39)		probably benign	Het
Ctnnd1	T	C	2: 84,450,704 (GRCm39)	N172S	probably benign	Het
Ddx6	A	G	9: 44,518,831 (GRCm39)	T48A	probably benign	Het
Dnah10	C	T	5: 124,911,052 (GRCm39)	R4490W	probably damaging	Het
Dspp	T	A	5: 104,326,425 (GRCm39)	S929R	unknown	Het
Erbb3	T	C	10: 128,422,094 (GRCm39)	Y50C	probably benign	Het
Fam209	C	A	2: 172,314,689 (GRCm39)	N59K	probably benign	Het
Fgd3	T	C	13: 49,449,931 (GRCm39)	E106G	probably benign	Het
Frmd4a	A	C	2: 4,577,176 (GRCm39)	K344T	probably damaging	Het
Gbe1	A	G	16: 70,325,814 (GRCm39)	E617G	probably damaging	Het
Gm5089	T	A	14: 122,673,686 (GRCm39)	I12F	unknown	Het
Gm7052	T	A	17: 22,258,920 (GRCm39)		probably benign	Het
Gria1	A	T	11: 56,902,930 (GRCm39)	N24I	possibly damaging	Het
Grin2b	T	C	6: 135,710,243 (GRCm39)	E1101G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Kcnma1	A	C	14: 23,387,097 (GRCm39)	S982A	probably damaging	Het
Khdrbs3	T	A	15: 68,885,328 (GRCm39)		probably benign	Het
Kif23	A	T	9: 61,834,666 (GRCm39)	C426*	probably null	Het
Lmo7	G	T	14: 102,124,497 (GRCm39)	A319S	probably benign	Het
Ly6c1	T	A	15: 74,920,342 (GRCm39)	T7S	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Mamdc4	A	T	2: 25,457,244 (GRCm39)	W548R	probably damaging	Het
Mfsd2a	C	T	4: 122,850,609 (GRCm39)	R88Q	probably damaging	Het
Mkrn1	T	C	6: 39,382,737 (GRCm39)	T158A	probably benign	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Mycbp2	A	G	14: 103,485,839 (GRCm39)	V1041A	probably damaging	Het
Ncam2	A	T	16: 81,386,586 (GRCm39)	H655L	possibly damaging	Het
Npas2	T	C	1: 39,377,276 (GRCm39)	V546A	probably benign	Het
Nrxn3	G	A	12: 90,299,089 (GRCm39)	A400T	probably damaging	Het
Oog3	G	T	4: 143,884,675 (GRCm39)	H420Q	possibly damaging	Het
Or3a10	A	T	11: 73,935,865 (GRCm39)	S78R	possibly damaging	Het
Or5ap2	T	A	2: 85,680,744 (GRCm39)	V316E	probably benign	Het
Or8k28	T	C	2: 86,285,817 (GRCm39)	H266R	probably benign	Het
Pak5	T	A	2: 135,958,557 (GRCm39)	H177L	probably benign	Het
Pcca	A	G	14: 123,124,477 (GRCm39)	I683V	probably benign	Het
Pea15a	T	C	1: 172,026,252 (GRCm39)	I90V	probably benign	Het
Plagl1	C	A	10: 13,004,402 (GRCm39)		probably benign	Het
Prmt1	A	G	7: 44,628,148 (GRCm39)	V237A	probably damaging	Het
Ptprz1	T	A	6: 23,027,833 (GRCm39)	Y910*	probably null	Het
Rasal3	T	A	17: 32,612,585 (GRCm39)	T757S	probably damaging	Het
Rbbp8	T	C	18: 11,860,223 (GRCm39)		probably benign	Het
S1pr1	A	G	3: 115,506,544 (GRCm39)	S17P	probably benign	Het
Scel	G	A	14: 103,779,421 (GRCm39)	V131M	probably damaging	Het
Scn2a	G	A	2: 65,512,427 (GRCm39)	R188Q	probably null	Het
Snap29	T	A	16: 17,224,190 (GRCm39)	Y68*	probably null	Het
Spdl1	T	C	11: 34,713,473 (GRCm39)	T199A	probably benign	Het
Srbd1	T	C	17: 86,449,828 (GRCm39)	N14D	probably benign	Het
Ston1	G	A	17: 88,942,957 (GRCm39)	G121D	probably benign	Het
Syt16	G	A	12: 74,281,977 (GRCm39)	G367E	possibly damaging	Het
Tdpoz1	T	C	3: 93,578,710 (GRCm39)	T25A	possibly damaging	Het
Tmem182	T	A	1: 40,845,355 (GRCm39)	Y77N	probably damaging	Het
Tmprss11f	A	T	5: 86,687,627 (GRCm39)		probably benign	Het
Trp73	T	C	4: 154,165,902 (GRCm39)	T56A	probably damaging	Het
Trpm3	A	G	19: 22,959,947 (GRCm39)	K1194R	probably damaging	Het
Ttc39c	T	A	18: 12,830,935 (GRCm39)		probably null	Het
Ube4b	T	C	4: 149,468,254 (GRCm39)	D174G	probably benign	Het
Vmn1r211	A	T	13: 23,035,953 (GRCm39)	M238K	probably damaging	Het
Wsb2	T	A	5: 117,508,798 (GRCm39)	N77K	probably benign	Het
Xkr4	C	T	1: 3,741,318 (GRCm39)	R85Q	probably benign	Het
Zmynd11	T	A	13: 9,739,514 (GRCm39)		probably null	Het

Other mutations in Ddx55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02237:Ddx55	APN	5	124,705,958 (GRCm39)	missense	probably damaging	1.00
IGL03356:Ddx55	APN	5	124,692,816 (GRCm39)	missense	possibly damaging	0.95
R0100:Ddx55	UTSW	5	124,694,845 (GRCm39)	missense	probably damaging	1.00
R0100:Ddx55	UTSW	5	124,694,845 (GRCm39)	missense	probably damaging	1.00
R0329:Ddx55	UTSW	5	124,697,210 (GRCm39)	missense	probably benign	0.00
R0401:Ddx55	UTSW	5	124,706,014 (GRCm39)	missense	probably damaging	1.00
R1604:Ddx55	UTSW	5	124,697,369 (GRCm39)	missense	probably damaging	1.00
R1760:Ddx55	UTSW	5	124,706,176 (GRCm39)	missense	probably damaging	0.99
R2292:Ddx55	UTSW	5	124,706,140 (GRCm39)	missense	probably benign	0.00
R4677:Ddx55	UTSW	5	124,705,997 (GRCm39)	missense	probably benign	0.04
R4735:Ddx55	UTSW	5	124,704,539 (GRCm39)	missense	probably damaging	1.00
R4745:Ddx55	UTSW	5	124,705,028 (GRCm39)	nonsense	probably null
R4941:Ddx55	UTSW	5	124,706,779 (GRCm39)	nonsense	probably null
R5272:Ddx55	UTSW	5	124,696,092 (GRCm39)	missense	possibly damaging	0.91
R5348:Ddx55	UTSW	5	124,692,628 (GRCm39)	missense	probably damaging	0.96
R5514:Ddx55	UTSW	5	124,694,875 (GRCm39)	missense	probably damaging	1.00
R5801:Ddx55	UTSW	5	124,704,560 (GRCm39)	critical splice donor site	probably null
R5806:Ddx55	UTSW	5	124,697,262 (GRCm39)	missense	probably damaging	1.00
R5869:Ddx55	UTSW	5	124,706,745 (GRCm39)	missense	probably benign
R5909:Ddx55	UTSW	5	124,704,913 (GRCm39)	missense	probably benign	0.00
R6594:Ddx55	UTSW	5	124,704,988 (GRCm39)	missense	probably damaging	1.00
R6737:Ddx55	UTSW	5	124,691,008 (GRCm39)	missense	probably damaging	1.00
R7257:Ddx55	UTSW	5	124,698,784 (GRCm39)	missense	possibly damaging	0.67
R7262:Ddx55	UTSW	5	124,704,919 (GRCm39)	missense	probably benign
R8049:Ddx55	UTSW	5	124,694,821 (GRCm39)	missense	probably damaging	0.96
R8078:Ddx55	UTSW	5	124,704,451 (GRCm39)	missense	probably damaging	1.00
R8093:Ddx55	UTSW	5	124,694,883 (GRCm39)	missense	possibly damaging	0.48
R8465:Ddx55	UTSW	5	124,697,184 (GRCm39)	splice site	probably null
R8944:Ddx55	UTSW	5	124,706,788 (GRCm39)	missense	probably damaging	0.98
R9007:Ddx55	UTSW	5	124,697,370 (GRCm39)	missense	probably damaging	0.99
R9305:Ddx55	UTSW	5	124,705,012 (GRCm39)	missense	probably damaging	1.00
R9561:Ddx55	UTSW	5	124,706,707 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- TTACAGTCCTGTCGGCAGTG -3'
(R):5'- GTCCTCAAGTCATGATGCTGGC -3'

Sequencing Primer
(F):5'- CTCGCTGGCTTGTGGTCAC -3'
(R):5'- CAAGTCATGATGCTGGCTGATGC -3'

Posted On

2014-08-25