Mutagenetix > Incidental Mutation

Incidental Mutation 'R5909:Ddx55'

460838

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

044106-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5909 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

124690927-124707723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124704913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 390 (M390T)

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 benign
Transcript: ENSMUST00000071057
AA Change: M394T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389
AA Change: M394T

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 benign
Transcript: ENSMUST00000111438
AA Change: M390T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389
AA Change: M390T

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

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
Adamts8	T	C	9: 30,873,224 (GRCm39)	S810P	probably benign	Het
Adcy7	A	T	8: 89,052,124 (GRCm39)	I931F	probably damaging	Het
Alcam	G	T	16: 52,111,356 (GRCm39)	Q248K	probably benign	Het
Astn1	A	C	1: 158,429,507 (GRCm39)	R750S	probably damaging	Het
Atp1a2	A	T	1: 172,114,797 (GRCm39)	N329K	probably damaging	Het
Bcl6	A	G	16: 23,791,556 (GRCm39)	V266A	probably benign	Het
Bdp1	A	G	13: 100,228,794 (GRCm39)	V278A	probably benign	Het
Ccdc162	T	C	10: 41,437,111 (GRCm39)	E493G	probably damaging	Het
Cpvl	T	C	6: 53,909,413 (GRCm39)	Y241C	probably damaging	Het
Ero1b	A	G	13: 12,594,139 (GRCm39)	E102G	probably benign	Het
Etnk1	A	G	6: 143,143,164 (GRCm39)	D273G	probably benign	Het
Exoc3	A	G	13: 74,347,643 (GRCm39)	V109A	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,091 (GRCm39)	I58N	probably damaging	Het
Fancd2	T	A	6: 113,538,672 (GRCm39)	V589E	probably benign	Het
Fbll1	G	A	11: 35,689,159 (GRCm39)	R35C	unknown	Het
Fnbp1	A	G	2: 30,938,211 (GRCm39)		probably null	Het
Glce	G	T	9: 61,967,426 (GRCm39)	A575D	probably damaging	Het
Ift20	T	A	11: 78,430,867 (GRCm39)	M70K	possibly damaging	Het
Impg2	T	C	16: 56,078,499 (GRCm39)	V487A	probably damaging	Het
Isx	A	G	8: 75,619,426 (GRCm39)	D206G	probably benign	Het
Jak3	A	G	8: 72,136,875 (GRCm39)	I684V	possibly damaging	Het
Kdm5d	G	A	Y: 941,306 (GRCm39)	S1169N	probably benign	Het
Krt35	A	T	11: 99,986,639 (GRCm39)	L125Q	probably damaging	Het
Lama4	G	A	10: 38,948,855 (GRCm39)	A873T	probably benign	Het
Lrch4	T	C	5: 137,632,127 (GRCm39)	S74P	possibly damaging	Het
Maneal	A	T	4: 124,750,966 (GRCm39)	Y263*	probably null	Het
Mcat	C	T	15: 83,432,116 (GRCm39)	A251T	probably benign	Het
Mup3	T	G	4: 62,004,244 (GRCm39)	T90P	probably benign	Het
Mybpc2	G	A	7: 44,156,515 (GRCm39)	A812V	probably damaging	Het
Naa15	T	C	3: 51,367,485 (GRCm39)	F503L	probably damaging	Het
Nudt8	T	C	19: 4,050,727 (GRCm39)	L25S	possibly damaging	Het
Oas1e	A	T	5: 120,926,972 (GRCm39)	V245D	probably damaging	Het
Ofcc1	A	G	13: 40,417,054 (GRCm39)	M109T	possibly damaging	Het
Or4c58	A	G	2: 89,674,735 (GRCm39)	V194A	possibly damaging	Het
Or4p18	A	T	2: 88,232,535 (GRCm39)	F248I	probably damaging	Het
Phkb	G	T	8: 86,748,076 (GRCm39)		probably null	Het
Pidd1	A	C	7: 141,021,183 (GRCm39)	L365R	probably damaging	Het
Pira12	G	A	7: 3,900,621 (GRCm39)	T43I	probably damaging	Het
Pkd1l2	G	A	8: 117,750,795 (GRCm39)	R1739C	probably benign	Het
Pkdrej	A	T	15: 85,702,497 (GRCm39)	D1146E	possibly damaging	Het
Pkhd1l1	G	T	15: 44,390,159 (GRCm39)	W1425L	probably damaging	Het
Plxna4	A	G	6: 32,494,181 (GRCm39)	L145P	probably damaging	Het
Plxnd1	G	T	6: 115,945,649 (GRCm39)	D941E	probably benign	Het
Prdm13	G	T	4: 21,683,894 (GRCm39)	Q126K	unknown	Het
Rbm25	T	A	12: 83,728,362 (GRCm39)	V837E	probably damaging	Het
Rcc2	T	A	4: 140,444,379 (GRCm39)	Y357N	probably damaging	Het
Siglec1	A	T	2: 130,919,884 (GRCm39)	N882K	probably damaging	Het
Sox13	A	G	1: 133,311,627 (GRCm39)	I535T	probably benign	Het
Srrm2	T	C	17: 24,040,291 (GRCm39)	S2408P	probably benign	Het
Stat3	G	A	11: 100,794,556 (GRCm39)	T251I	probably benign	Het
Sulf1	A	T	1: 12,929,039 (GRCm39)	D102V	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tmem145	G	T	7: 25,007,618 (GRCm39)	L208F	possibly damaging	Het
Trim17	A	T	11: 58,859,506 (GRCm39)	E240V	probably damaging	Het
Trim43b	A	T	9: 88,967,451 (GRCm39)	I395K	possibly damaging	Het
Trmt61a	C	A	12: 111,647,292 (GRCm39)	H130N	probably damaging	Het
Unc5b	A	C	10: 60,608,138 (GRCm39)	L654R	probably damaging	Het
Vmn1r66	A	T	7: 10,008,269 (GRCm39)	S255T	probably benign	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zbtb10	T	C	3: 9,345,109 (GRCm39)	F677S	probably benign	Het
Zfp493	T	A	13: 67,934,717 (GRCm39)	C223*	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
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
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
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'- TTGAGGACGCCACCTATTGTTG -3'
(R):5'- TGGCACAGAGCTTCATCACC -3'

Sequencing Primer
(F):5'- ACCTATTGTTGCCTTTACTGGTTAG -3'
(R):5'- CTGGTCTACAGCAGGAACTAGC -3'

Posted On

2017-02-28