Mutagenetix > Incidental Mutation

Incidental Mutation 'R5514:Ddx55'

440230

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

043074-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124690927-124707723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124694875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 101 (V101A)

Ref Sequence

ENSEMBL: ENSMUSP00000107065 (fasta)

Gene Model

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

AlphaFold

Q6ZPL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071057
AA Change: V101A

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

SMART Domains

Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389
AA Change: V101A

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: V101A

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

SMART Domains

Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389
AA Change: V101A

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: ENSMUST00000136067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196021

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	T	C	12: 21,390,520 (GRCm39)	S382G	probably damaging	Het
Agr2	G	A	12: 36,046,090 (GRCm39)	V74I	probably benign	Het
Aldh3a1	T	C	11: 61,108,867 (GRCm39)	S423P	probably damaging	Het
Ampd1	C	T	3: 102,986,488 (GRCm39)	H56Y	possibly damaging	Het
Arhgef2	C	A	3: 88,550,304 (GRCm39)	P670T	probably benign	Het
Blk	T	G	14: 63,615,930 (GRCm39)	D333A	probably damaging	Het
Bmi1	T	C	2: 18,686,714 (GRCm39)	I31T	probably damaging	Het
Cacna1d	G	A	14: 30,072,790 (GRCm39)	Q62*	probably null	Het
Ccdc88c	A	G	12: 100,879,698 (GRCm39)	S1801P	probably damaging	Het
Cdkal1	C	T	13: 29,961,270 (GRCm39)	A100T	probably damaging	Het
Cfap251	G	T	5: 123,425,829 (GRCm39)		probably null	Het
Chst4	G	T	8: 110,756,606 (GRCm39)	S419Y	probably damaging	Het
Cntn4	T	C	6: 106,649,844 (GRCm39)	I680T	probably damaging	Het
Ddx60	A	T	8: 62,411,091 (GRCm39)	E451V	probably damaging	Het
Dffa	T	A	4: 149,190,772 (GRCm39)		probably null	Het
Dgkd	A	G	1: 87,861,832 (GRCm39)	R796G	probably damaging	Het
Dzank1	T	A	2: 144,323,605 (GRCm39)	M614L	probably benign	Het
Elf2	G	T	3: 51,215,555 (GRCm39)	Q52K	probably damaging	Het
Fcamr	T	A	1: 130,741,793 (GRCm39)	L522Q	probably damaging	Het
Fscn2	T	C	11: 120,258,858 (GRCm39)	Y468H	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Gm4787	A	G	12: 81,425,102 (GRCm39)	V352A	possibly damaging	Het
Gtsf1	T	C	15: 103,336,802 (GRCm39)	Q13R	probably benign	Het
Itpkb	G	A	1: 180,241,474 (GRCm39)	V715M	probably damaging	Het
Jmjd1c	T	A	10: 67,053,928 (GRCm39)	S263T	probably damaging	Het
Krba1	T	G	6: 48,390,429 (GRCm39)	L736R	probably damaging	Het
Lrrc8d	C	G	5: 105,960,650 (GRCm39)	F353L	probably damaging	Het
Lrrc8d	G	A	5: 105,960,651 (GRCm39)	E354K	probably benign	Het
Mtor	T	A	4: 148,630,901 (GRCm39)	V2286E	probably damaging	Het
Mybbp1a	T	A	11: 72,341,462 (GRCm39)	V1100E	possibly damaging	Het
Myo5a	G	A	9: 75,061,048 (GRCm39)	G518D	probably damaging	Het
Nalcn	A	T	14: 123,521,123 (GRCm39)	I1594N	probably benign	Het
Nav1	C	G	1: 135,398,299 (GRCm39)	G761A	probably benign	Het
Ncoa2	A	T	1: 13,251,445 (GRCm39)	L276H	probably damaging	Het
Ndufaf7	T	C	17: 79,245,051 (GRCm39)	Y57H	probably damaging	Het
Nfkb2	A	G	19: 46,299,847 (GRCm39)	Y807C	probably damaging	Het
Nid2	A	T	14: 19,852,535 (GRCm39)	Q1081L	probably damaging	Het
Nkain2	T	A	10: 31,827,189 (GRCm39)	I134F	probably damaging	Het
Nmu	A	C	5: 76,497,979 (GRCm39)	S69A	probably damaging	Het
Or4c15b	A	T	2: 89,112,817 (GRCm39)	I220N	probably damaging	Het
Or5t7	T	C	2: 86,507,225 (GRCm39)	I151V	probably benign	Het
Pard3	A	G	8: 128,153,086 (GRCm39)	R886G	probably damaging	Het
Pde6b	G	T	5: 108,571,317 (GRCm39)	Q423H	probably benign	Het
Pip5k1b	A	T	19: 24,327,505 (GRCm39)	D450E	probably damaging	Het
Plcg1	T	C	2: 160,595,275 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,103,246 (GRCm39)	S504P	possibly damaging	Het
Pomt2	A	T	12: 87,175,797 (GRCm39)	D312E	probably damaging	Het
Ppp1r1b	T	C	11: 98,246,228 (GRCm39)	L70P	probably damaging	Het
Prr5	C	A	15: 84,587,096 (GRCm39)	P282Q	probably benign	Het
Reln	A	T	5: 22,176,883 (GRCm39)	W1928R	possibly damaging	Het
Sacm1l	A	T	9: 123,415,419 (GRCm39)	R465*	probably null	Het
Sema7a	A	G	9: 57,863,046 (GRCm39)	Y239C	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Svep1	T	C	4: 58,044,054 (GRCm39)	T3531A	possibly damaging	Het
Tjp1	A	T	7: 65,004,609 (GRCm39)	W19R	probably damaging	Het
Tmc2	T	A	2: 130,083,564 (GRCm39)	M507K	possibly damaging	Het
Unc13a	A	G	8: 72,095,795 (GRCm39)	Y1241H	probably damaging	Het
Upp1	C	T	11: 9,081,771 (GRCm39)	P103S	probably damaging	Het
Vldlr	A	G	19: 27,221,624 (GRCm39)	E663G	probably damaging	Het
Vmn2r68	G	A	7: 84,886,767 (GRCm39)	T49I	possibly damaging	Het
Xirp2	A	T	2: 67,335,465 (GRCm39)	M95L	probably benign	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
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
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'- ATGCTGGGCCTTGTTCAGAG -3'
(R):5'- TCCAATCCACAAAATCTGGCTG -3'

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

Posted On

2016-11-08