Mutagenetix > Incidental Mutation

Incidental Mutation 'R4745:Ddx55'

356636

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

042028-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124690927-124707723 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 124705028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 428 (Y428*)

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 null
Transcript: ENSMUST00000071057
AA Change: Y432*

SMART Domains

Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389
AA Change: Y432*

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 null
Transcript: ENSMUST00000111438
AA Change: Y428*

SMART Domains

Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389
AA Change: Y428*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (89/92)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,526,427 (GRCm39)	Y619C	probably damaging	Het
Adck1	A	G	12: 88,368,949 (GRCm39)		probably null	Het
Agap3	A	C	5: 24,656,123 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,782,566 (GRCm39)	H354Q	probably damaging	Het
Ankrd29	T	G	18: 12,387,679 (GRCm39)	N301T	probably benign	Het
Arhgef4	A	G	1: 34,846,356 (GRCm39)	T379A	probably damaging	Het
Arid1a	A	G	4: 133,480,417 (GRCm39)	V169A	probably benign	Het
Bag2	T	C	1: 33,787,417 (GRCm39)		probably null	Het
Bmt2	A	C	6: 13,628,686 (GRCm39)	Y332*	probably null	Het
Bpifb1	A	T	2: 154,053,501 (GRCm39)	K248*	probably null	Het
Caap1	C	A	4: 94,444,751 (GRCm39)		probably null	Het
Calcr	T	A	6: 3,692,576 (GRCm39)	Y389F	probably damaging	Het
Capn1	C	T	19: 6,043,946 (GRCm39)	V562I	probably benign	Het
Ccr1	T	A	9: 123,763,985 (GRCm39)	T182S	probably benign	Het
Ceacam15	T	C	7: 16,407,259 (GRCm39)	D86G	probably benign	Het
Cldnd1	C	T	16: 58,550,006 (GRCm39)	T63I	probably benign	Het
Col12a1	A	T	9: 79,559,368 (GRCm39)		probably null	Het
Cystm1	A	G	18: 36,526,348 (GRCm39)		probably benign	Het
Ensa	G	A	3: 95,538,745 (GRCm39)	G118D	probably benign	Het
Folh1	A	T	7: 86,372,482 (GRCm39)		probably null	Het
Foxj2	C	A	6: 122,814,948 (GRCm39)	P328Q	probably damaging	Het
Fscn3	A	G	6: 28,435,627 (GRCm39)	I417V	probably damaging	Het
Galnt7	T	C	8: 57,995,761 (GRCm39)		probably benign	Het
Gm11563	T	A	11: 99,549,246 (GRCm39)	*169C	probably null	Het
Hfm1	A	T	5: 107,049,709 (GRCm39)	D417E	possibly damaging	Het
Ighv15-2	A	G	12: 114,528,230 (GRCm39)	S107P	probably damaging	Het
Itsn2	A	G	12: 4,711,944 (GRCm39)	D904G	probably damaging	Het
Kif1b	A	T	4: 149,322,339 (GRCm39)	L860*	probably null	Het
Krt79	T	C	15: 101,839,119 (GRCm39)	E450G	probably damaging	Het
Lama1	T	C	17: 68,045,775 (GRCm39)	S227P	probably damaging	Het
Lamp5	C	A	2: 135,902,786 (GRCm39)	H168Q	probably benign	Het
Lilra5	A	T	7: 4,245,076 (GRCm39)	Q240L	possibly damaging	Het
Lrp1	A	T	10: 127,385,813 (GRCm39)	C3521S	probably benign	Het
Mroh1	T	A	15: 76,292,730 (GRCm39)		probably null	Het
Nlrp4g	A	T	9: 124,349,515 (GRCm38)		noncoding transcript	Het
Nr2f6	A	T	8: 71,831,179 (GRCm39)	I70N	probably benign	Het
Nr4a2	T	A	2: 57,000,163 (GRCm39)	D311V	probably damaging	Het
Odad2	G	A	18: 7,286,763 (GRCm39)	T156M	probably benign	Het
Or10w1	T	A	19: 13,632,750 (GRCm39)	M319K	probably benign	Het
Or10x4	T	C	1: 174,219,442 (GRCm39)	L269P	probably damaging	Het
Or52n20	T	A	7: 104,320,711 (GRCm39)	F267L	probably damaging	Het
Pcdhb6	C	A	18: 37,468,426 (GRCm39)	A449D	possibly damaging	Het
Pcgf6	A	G	19: 47,036,545 (GRCm39)		probably null	Het
Prc1	C	A	7: 79,962,911 (GRCm39)	H131Q	probably benign	Het
Ptprq	C	A	10: 107,360,114 (GRCm39)	R2187L	probably damaging	Het
Rasl2-9	C	A	7: 5,128,702 (GRCm39)	R76L	possibly damaging	Het
Rdh16f1	A	T	10: 127,626,685 (GRCm39)	Y246F	probably benign	Het
Rit1	T	C	3: 88,624,982 (GRCm39)		probably benign	Het
Sash1	A	G	10: 8,605,672 (GRCm39)	V906A	probably benign	Het
Scnn1b	T	C	7: 121,501,509 (GRCm39)	V108A	probably benign	Het
Sema4f	A	T	6: 82,895,265 (GRCm39)	I356N	probably damaging	Het
Shc4	A	T	2: 125,491,197 (GRCm39)	L447Q	probably damaging	Het
Slc24a1	T	C	9: 64,856,758 (GRCm39)	M50V	unknown	Het
Slc28a3	T	A	13: 58,722,077 (GRCm39)	D269V	possibly damaging	Het
Slc35e1	A	G	8: 73,246,166 (GRCm39)	S89P	possibly damaging	Het
Smpd5	T	A	15: 76,179,008 (GRCm39)	H125Q	probably benign	Het
Snapc2	A	G	8: 4,304,578 (GRCm39)	T31A	probably damaging	Het
Sox5	G	C	6: 143,779,214 (GRCm39)	H606D	possibly damaging	Het
Spag6	A	G	2: 18,742,107 (GRCm39)	T367A	possibly damaging	Het
Spag8	T	C	4: 43,651,636 (GRCm39)	T413A	probably damaging	Het
Sptlc3	G	A	2: 139,389,087 (GRCm39)	G156R	probably damaging	Het
Stx19	A	G	16: 62,642,783 (GRCm39)	T200A	probably benign	Het
Tas2r116	A	G	6: 132,832,668 (GRCm39)	T90A	probably benign	Het
Tasor2	G	A	13: 3,640,069 (GRCm39)	T356I	probably benign	Het
Tbl3	A	G	17: 24,924,304 (GRCm39)		probably benign	Het
Tekt5	G	T	16: 10,213,058 (GRCm39)	P76T	probably damaging	Het
Tjp2	C	T	19: 24,074,030 (GRCm39)	E1086K	possibly damaging	Het
Topbp1	T	C	9: 103,200,770 (GRCm39)	L601P	probably damaging	Het
Trav16	T	A	14: 53,980,934 (GRCm39)	M41K	possibly damaging	Het
Trav6-5	C	A	14: 53,728,960 (GRCm39)	N72K	probably benign	Het
Trpm3	C	G	19: 22,692,659 (GRCm39)	T250S	possibly damaging	Het
Vps35	A	T	8: 85,987,891 (GRCm39)	D753E	probably benign	Het
Vstm2a	A	T	11: 16,213,061 (GRCm39)	N149Y	probably damaging	Het
Vwa2	G	T	19: 56,895,318 (GRCm39)	M497I	probably benign	Het
Zfat	C	A	15: 68,052,223 (GRCm39)	V517L	probably benign	Het
Zfp169	C	A	13: 48,643,708 (GRCm39)	R473L	possibly damaging	Het
Zfp672	T	C	11: 58,220,324 (GRCm39)		probably benign	Het
Zranb1	T	C	7: 132,574,443 (GRCm39)	V420A	probably damaging	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
R2002:Ddx55	UTSW	5	124,704,503 (GRCm39)	missense	probably damaging	1.00
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
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'- CACTGCATTGTGTGTCCTTG -3'
(R):5'- TGGCACAGAGCTTCATCAC -3'

Sequencing Primer
(F):5'- CACTGGGGTTGGAGGGAC -3'
(R):5'- GCTTTTATACCAGTACTCGATAGGC -3'

Posted On

2015-11-11