Mutagenetix > Incidental Mutation

Incidental Mutation 'R0201:Ddx1'

23658

Institutional Source

Beutler Lab

Gene Symbol

Ddx1

Ensembl Gene

ENSMUSG00000037149

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 1

Synonyms

MMRRC Submission

038458-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13216973-13249213 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13223808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 606 (V606A)

Ref Sequence

ENSEMBL: ENSMUSP00000065987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071103]

AlphaFold

Q91VR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000071103
AA Change: V606A

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

SMART Domains

Protein: ENSMUSP00000065987
Gene: ENSMUSG00000037149
AA Change: V606A

Domain	Start	End	E-Value	Type
DEXDc	21	444	1.95e-47	SMART
SPRY	130	246	1.91e-34	SMART
HELICc	520	610	8.28e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221028

Meta Mutation Damage Score

0.7088

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

97% (91/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein of unknown function. It shows high transcription levels in 2 retinoblastoma cell lines and in tissues of neuroectodermal origin. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,581,957		probably null	Het
Adamts16	T	A	13: 70,779,644	Q492L	possibly damaging	Het
Aplnr	A	G	2: 85,137,177	D182G	probably damaging	Het
Arnt2	G	T	7: 84,361,659	S3*	probably null	Het
Asxl3	T	C	18: 22,523,154	V1407A	probably benign	Het
Atg13	A	T	2: 91,684,762		probably null	Het
Atm	A	T	9: 53,454,279		probably benign	Het
Birc6	T	G	17: 74,609,327	V1746G	possibly damaging	Het
Cbln1	G	T	8: 87,472,113	T43K	probably benign	Het
Cbx5	T	C	15: 103,199,700	T173A	probably damaging	Het
Cc2d2a	A	G	5: 43,737,512	Y1437C	probably damaging	Het
Ccdc78	C	A	17: 25,789,236		probably benign	Het
Cd2bp2	A	G	7: 127,193,828	Y341H	probably damaging	Het
Cdhr5	T	A	7: 141,276,378	D88V	probably damaging	Het
Ces1f	T	A	8: 93,267,329	T275S	probably null	Het
Clca4a	T	C	3: 144,960,717	N458S	probably benign	Het
Cog5	A	G	12: 31,839,841	K521R	probably damaging	Het
Csf2ra	T	A	19: 61,225,568	T305S	probably benign	Het
Csmd3	T	A	15: 47,619,729		probably benign	Het
Cts6	T	A	13: 61,201,499	R132*	probably null	Het
D5Ertd579e	G	T	5: 36,616,465	N195K	probably damaging	Het
Dip2b	G	A	15: 100,186,147	D884N	probably damaging	Het
Ehhadh	A	G	16: 21,773,493		probably null	Het
Enpp1	T	A	10: 24,653,917	T608S	probably benign	Het
Fancm	T	C	12: 65,101,632	Y674H	probably damaging	Het
Fat4	T	A	3: 38,891,596	V1546D	probably damaging	Het
Fsd1	G	A	17: 55,990,522	A158T	probably benign	Het
Fzd2	T	A	11: 102,606,122	M464K	probably damaging	Het
Gjc2	A	G	11: 59,177,590	F22S	possibly damaging	Het
Gm13101	T	C	4: 143,964,890	E421G	probably damaging	Het
Gria2	T	C	3: 80,707,838	Y445C	probably damaging	Het
Hsdl1	T	A	8: 119,566,256	I147F	possibly damaging	Het
Ifi44	T	C	3: 151,745,636	Y226C	probably damaging	Het
Il16	A	G	7: 83,722,308	C97R	probably damaging	Het
Impg1	A	T	9: 80,345,561	S369T	probably damaging	Het
Jmjd1c	A	G	10: 67,219,109	T390A	unknown	Het
Lgi1	A	G	19: 38,301,293	E269G	possibly damaging	Het
Lrp6	G	T	6: 134,450,897	Y1577*	probably null	Het
Lrrc74a	G	T	12: 86,761,773		probably benign	Het
Man1c1	A	T	4: 134,640,398		probably null	Het
Map1lc3b	A	C	8: 121,590,550	Q9P	possibly damaging	Het
Mboat1	G	A	13: 30,202,375	R124H	probably benign	Het
Mcu	A	G	10: 59,456,677	L60P	probably damaging	Het
Mrs2	G	T	13: 25,018,534	Q75K	probably benign	Het
Muc2	CGTG	CGTGTG	7: 141,699,185		probably null	Het
Neb	G	A	2: 52,206,878		probably benign	Het
Nlrp2	C	T	7: 5,328,329	G356D	probably benign	Het
Notch3	A	G	17: 32,156,148		probably benign	Het
Npr2	A	C	4: 43,641,617	S474R	probably damaging	Het
Nupl1	A	G	14: 60,244,616	F100L	probably benign	Het
Osbpl6	A	C	2: 76,546,042	D87A	possibly damaging	Het
Pabpc2	A	T	18: 39,775,307	M542L	probably benign	Het
Papln	A	G	12: 83,783,027		probably benign	Het
Parpbp	T	C	10: 88,092,896	I561V	possibly damaging	Het
Pcdhb13	C	T	18: 37,442,581	A4V	probably benign	Het
Pelp1	T	C	11: 70,395,704	T533A	possibly damaging	Het
Poldip3	T	A	15: 83,135,296	M182L	probably benign	Het
Por	T	C	5: 135,731,178	S240P	possibly damaging	Het
Pramef20	A	T	4: 144,377,273		probably benign	Het
Prss22	A	T	17: 23,996,301	V167D	probably damaging	Het
Prss37	A	C	6: 40,516,349	L61R	probably damaging	Het
Psmd1	C	T	1: 86,118,616	T702M	probably benign	Het
Pxdn	G	T	12: 30,002,431	G869V	possibly damaging	Het
Rabgap1l	A	G	1: 160,453,745		probably benign	Het
Rapgef6	T	C	11: 54,619,941	V228A	probably damaging	Het
Rnf169	T	C	7: 99,926,003	R462G	possibly damaging	Het
Rnft2	A	G	5: 118,194,680		probably benign	Het
Sgo2b	T	C	8: 63,926,636	D1054G	probably benign	Het
Sh3bgr	T	C	16: 96,228,517		probably benign	Het
Slc12a4	A	G	8: 105,945,350	V910A	possibly damaging	Het
Slc6a12	A	T	6: 121,355,372	I222F	probably benign	Het
Spty2d1	G	A	7: 46,997,901	R427*	probably null	Het
Ssc5d	A	G	7: 4,944,663	T1339A	probably benign	Het
Sspo	A	C	6: 48,455,752	E854A	possibly damaging	Het
Stx7	A	G	10: 24,185,079		probably benign	Het
Styk1	A	T	6: 131,301,730		probably benign	Het
Tex33	T	A	15: 78,378,828	M209L	probably damaging	Het
Tmem163	T	G	1: 127,668,637		probably benign	Het
Tmppe	C	CT	9: 114,404,639		probably null	Het
Tmx2	A	G	2: 84,673,082	V229A	probably benign	Het
Top2b	T	C	14: 16,383,174	L54P	probably damaging	Het
Trim62	A	T	4: 128,902,550	Y280F	probably benign	Het
Tssk4	A	T	14: 55,651,559	K181*	probably null	Het
Tssk4	A	T	14: 55,651,560	K181M	probably damaging	Het
Ubn1	A	G	16: 5,064,614	D313G	probably damaging	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Ugt1a10	C	T	1: 88,218,249	P473L	probably damaging	Het

Other mutations in Ddx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Ddx1	APN	12	13227459	splice site	probably benign
IGL00725:Ddx1	APN	12	13245690	missense	probably damaging	1.00
IGL00958:Ddx1	APN	12	13240848	splice site	probably null
IGL01786:Ddx1	APN	12	13229136	missense	probably benign
IGL02832:Ddx1	APN	12	13227317	nonsense	probably null
IGL02983:Ddx1	APN	12	13223862	missense	probably damaging	1.00
R0931:Ddx1	UTSW	12	13237817	splice site	probably benign
R1434:Ddx1	UTSW	12	13237231	missense	probably benign	0.01
R1558:Ddx1	UTSW	12	13239541	missense	probably damaging	1.00
R1673:Ddx1	UTSW	12	13244966	critical splice donor site	probably null
R1854:Ddx1	UTSW	12	13229331	missense	probably benign	0.19
R2910:Ddx1	UTSW	12	13231440	splice site	probably null
R2911:Ddx1	UTSW	12	13231440	splice site	probably null
R4181:Ddx1	UTSW	12	13231503	nonsense	probably null
R4182:Ddx1	UTSW	12	13231503	nonsense	probably null
R4183:Ddx1	UTSW	12	13231503	nonsense	probably null
R4231:Ddx1	UTSW	12	13223857	missense	possibly damaging	0.74
R4234:Ddx1	UTSW	12	13223857	missense	possibly damaging	0.74
R4235:Ddx1	UTSW	12	13223857	missense	possibly damaging	0.74
R4243:Ddx1	UTSW	12	13240909	nonsense	probably null
R4717:Ddx1	UTSW	12	13240887	missense	probably damaging	1.00
R4821:Ddx1	UTSW	12	13239147	missense	probably damaging	1.00
R5032:Ddx1	UTSW	12	13223992	missense	probably damaging	1.00
R5082:Ddx1	UTSW	12	13220435	nonsense	probably null
R5528:Ddx1	UTSW	12	13229294	missense	probably damaging	1.00
R5997:Ddx1	UTSW	12	13237799	missense	probably damaging	1.00
R6398:Ddx1	UTSW	12	13245720	missense	probably damaging	1.00
R6891:Ddx1	UTSW	12	13236095	missense	probably benign	0.25
R7085:Ddx1	UTSW	12	13229355	missense	probably damaging	1.00
R7125:Ddx1	UTSW	12	13243863	missense	probably benign	0.18
R7307:Ddx1	UTSW	12	13223959	missense	probably damaging	1.00
R7388:Ddx1	UTSW	12	13225455	missense	probably null	1.00
R7393:Ddx1	UTSW	12	13230353	missense	probably benign	0.03
R7460:Ddx1	UTSW	12	13231439	splice site	probably null
R8310:Ddx1	UTSW	12	13224279	intron	probably benign
R8479:Ddx1	UTSW	12	13220748	missense	probably damaging	0.97
R8712:Ddx1	UTSW	12	13243858	critical splice donor site	probably benign
R8790:Ddx1	UTSW	12	13223992	missense	probably damaging	1.00
R8826:Ddx1	UTSW	12	13227331	missense	probably damaging	1.00
R9120:Ddx1	UTSW	12	13225457	missense	possibly damaging	0.89
R9214:Ddx1	UTSW	12	13236118	missense	probably benign
R9400:Ddx1	UTSW	12	13223702	missense	probably damaging	1.00
X0011:Ddx1	UTSW	12	13229415	missense	probably damaging	1.00
X0028:Ddx1	UTSW	12	13243866	missense	probably benign	0.00
Z1177:Ddx1	UTSW	12	13229259	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAAGTATGACCCCTAAGTGTCCTATGGT -3'
(R):5'- GACAGACACCTCCTTGTCTTGGTTC -3'

Sequencing Primer
(F):5'- ACTGATTCCAATTTCAATGGGGG -3'
(R):5'- GGAGACGTAAGATTCTTGATTTGCAC -3'

Posted On

2013-04-16