Mutagenetix > Incidental Mutation

Incidental Mutation 'R8049:Ddx55'

618926

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

067486-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124690927-124707723 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124694821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 83 (V83A)

Ref Sequence

ENSEMBL: ENSMUSP00000070279 (fasta)

Gene Model

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

AlphaFold

Q6ZPL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071057
AA Change: V83A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389
AA Change: V83A

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: V83A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389
AA Change: V83A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (55/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,555,992 (GRCm39)	T69S	probably benign	Het
5730455P16Rik	A	G	11: 80,268,798 (GRCm39)	S4P	possibly damaging	Het
Abca13	T	A	11: 9,241,867 (GRCm39)	N1243K	probably damaging	Het
Adgrg6	A	T	10: 14,303,943 (GRCm39)	S824T	probably benign	Het
Armh4	G	T	14: 50,010,993 (GRCm39)	A238E	probably damaging	Het
C3ar1	T	A	6: 122,827,059 (GRCm39)	Y386F	probably damaging	Het
Cdc14a	T	C	3: 116,087,577 (GRCm39)	N527S	probably benign	Het
Cfap69	A	T	5: 5,669,085 (GRCm39)		probably benign	Het
Col7a1	C	T	9: 108,804,631 (GRCm39)	P2279S	unknown	Het
Crb2	G	A	2: 37,683,252 (GRCm39)	G918D	probably benign	Het
Dcn	C	A	10: 97,349,479 (GRCm39)	N250K	probably damaging	Het
Dctn5	G	A	7: 121,732,466 (GRCm39)		probably benign	Het
Dnaja2	T	A	8: 86,265,876 (GRCm39)	H403L	possibly damaging	Het
Dpy19l4	T	C	4: 11,303,982 (GRCm39)	I143V	probably benign	Het
Efna5	G	T	17: 62,957,977 (GRCm39)	T93K	probably benign	Het
Eml6	A	G	11: 29,843,201 (GRCm39)	V171A	possibly damaging	Het
Esyt1	C	G	10: 128,347,955 (GRCm39)	V942L	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam78a	C	A	2: 31,973,035 (GRCm39)		probably benign	Het
Fat2	A	G	11: 55,202,892 (GRCm39)	Y61H	probably benign	Het
Fbxw14	A	T	9: 109,105,211 (GRCm39)	M318K	probably damaging	Het
Gm14295	A	G	2: 176,500,871 (GRCm39)	I120M	probably benign	Het
Gm14403	T	A	2: 177,200,311 (GRCm39)	Y86N	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr55	T	C	1: 85,869,419 (GRCm39)	D54G	probably benign	Het
Gtf2b	T	G	3: 142,483,975 (GRCm39)	S50A	probably damaging	Het
Ifit3	A	T	19: 34,565,480 (GRCm39)	E342V	possibly damaging	Het
Iqgap3	T	A	3: 88,011,609 (GRCm39)	I798N	probably damaging	Het
Kplce	A	T	3: 92,776,202 (GRCm39)	Y160*	probably null	Het
Lpin1	T	C	12: 16,613,685 (GRCm39)	D494G		Het
Lsm12	T	C	11: 102,056,235 (GRCm39)	E149G	possibly damaging	Het
Mtfr2	T	C	10: 20,228,603 (GRCm39)	S50P	possibly damaging	Het
Ndnf	T	C	6: 65,680,414 (GRCm39)	M231T	probably benign	Het
Noc3l	A	T	19: 38,800,873 (GRCm39)	V203E	probably benign	Het
Or1e27-ps1	G	T	11: 73,555,988 (GRCm39)	K184N	possibly damaging	Het
Or52h2	C	A	7: 103,839,017 (GRCm39)	L132F	probably damaging	Het
Or5c1	A	T	2: 37,222,346 (GRCm39)	T196S	probably damaging	Het
Or9r7	A	T	10: 129,962,469 (GRCm39)	Y152*	probably null	Het
Pcnx1	C	T	12: 81,965,593 (GRCm39)	R59*	probably null	Het
Pde6b	C	T	5: 108,573,118 (GRCm39)	P496L	probably benign	Het
Plppr1	A	T	4: 49,300,942 (GRCm39)	M92L	probably benign	Het
Pphln1-ps1	C	T	16: 13,495,623 (GRCm39)	R241C	probably damaging	Het
Ptprk	C	G	10: 28,259,565 (GRCm39)	S335C	possibly damaging	Het
Rars2	T	A	4: 34,650,217 (GRCm39)	M334K	probably benign	Het
Rasl10a	A	T	11: 5,009,823 (GRCm39)	I124F	probably damaging	Het
Rgs12	T	A	5: 35,183,374 (GRCm39)	V1007E	possibly damaging	Het
Rnf122	T	A	8: 31,618,608 (GRCm39)	C119S	probably damaging	Het
Scn11a	T	A	9: 119,584,149 (GRCm39)	I1489F	probably damaging	Het
Setd6	C	A	8: 96,443,316 (GRCm39)	S186R	probably benign	Het
Tex19.1	A	G	11: 121,038,148 (GRCm39)	T169A	probably benign	Het
Th	G	A	7: 142,447,860 (GRCm39)	P408S	probably damaging	Het
Trappc13	T	C	13: 104,281,052 (GRCm39)	M337V	probably benign	Het
Treml2	A	T	17: 48,609,762 (GRCm39)	K65*	probably null	Het
Ubxn4	T	C	1: 128,183,933 (GRCm39)	S98P	probably damaging	Het
Wrnip1	A	G	13: 33,005,960 (GRCm39)	S601G	probably benign	Het
Zfp1006	A	T	8: 129,946,555 (GRCm39)	L90H	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
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
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'- CCACAAAATCTGGCTGAAAAGG -3'

Sequencing Primer
(F):5'- CAGAGTAGGCAAGTGTTCTGCC -3'
(R):5'- CTTGGAGCAAGTGTGGCAAG -3'

Posted On

2020-01-23