Mutagenetix > Incidental Mutation

Incidental Mutation 'R1434:Ddx1'

159400

Institutional Source

Beutler Lab

Gene Symbol

Ddx1

Ensembl Gene

ENSMUSG00000037149

Gene Name

DEAD box helicase 1

Synonyms

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

MMRRC Submission

039489-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1434 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13269308-13299175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13287232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 267 (V267I)

Ref Sequence

ENSEMBL: ENSMUSP00000065987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071103] [ENSMUST00000221623]

AlphaFold

Q91VR5

Predicted Effect

probably benign
Transcript: ENSMUST00000071103
AA Change: V267I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000065987
Gene: ENSMUSG00000037149
AA Change: V267I

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

probably benign
Transcript: ENSMUST00000221623

Meta Mutation Damage Score

0.0685

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

99% (73/74)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,348,959 (GRCm39)	H851N	probably benign	Het
Adamtsl4	T	C	3: 95,588,094 (GRCm39)	Y631C	probably damaging	Het
Ankhd1	A	G	18: 36,758,212 (GRCm39)	I969V	probably benign	Het
Apob	A	G	12: 8,059,715 (GRCm39)	I2699M	probably damaging	Het
Aqr	A	T	2: 113,980,890 (GRCm39)	L297Q	probably damaging	Het
Arb2a	A	T	13: 77,910,041 (GRCm39)	Y98F	probably damaging	Het
Camsap1	A	G	2: 25,835,190 (GRCm39)	Y301H	probably damaging	Het
Ccdc88c	A	G	12: 100,905,425 (GRCm39)		probably benign	Het
Cd209b	T	A	8: 3,973,367 (GRCm39)	I106F	possibly damaging	Het
Cdkn1b	T	A	6: 134,898,060 (GRCm39)	W60R	probably damaging	Het
Coasy	A	G	11: 100,975,822 (GRCm39)		probably benign	Het
Col2a1	T	A	15: 97,877,532 (GRCm39)	Q1017L	probably damaging	Het
Cspg4b	G	A	13: 113,505,026 (GRCm39)	V510I	possibly damaging	Het
Ctnnal1	T	A	4: 56,847,971 (GRCm39)	N56I	probably damaging	Het
Cyb561d2	T	A	9: 107,418,842 (GRCm39)		probably benign	Het
Dcst1	G	T	3: 89,259,826 (GRCm39)	T632N	probably damaging	Het
Dnah10	A	T	5: 124,852,050 (GRCm39)	M1736L	probably benign	Het
Eln	G	A	5: 134,758,291 (GRCm39)		probably benign	Het
Elp1	T	A	4: 56,781,193 (GRCm39)	E493D	probably benign	Het
Enpp2	A	T	15: 54,726,077 (GRCm39)	D566E	probably damaging	Het
Ezh1	T	C	11: 101,085,743 (GRCm39)	K638R	probably damaging	Het
Fdx2	C	A	9: 20,984,694 (GRCm39)	G37W	probably benign	Het
Grin2b	T	C	6: 135,820,193 (GRCm39)	I340V	probably benign	Het
Il16	T	C	7: 83,304,520 (GRCm39)	T671A	probably benign	Het
Kcnd2	T	A	6: 21,216,356 (GRCm39)	M20K	probably damaging	Het
Kndc1	C	T	7: 139,502,600 (GRCm39)	S962F	probably damaging	Het
L1td1	A	G	4: 98,626,054 (GRCm39)	S750G	possibly damaging	Het
Lama2	A	G	10: 27,084,366 (GRCm39)	C935R	probably damaging	Het
Lgalsl	T	C	11: 20,776,418 (GRCm39)	D158G	possibly damaging	Het
Lman1	A	T	18: 66,126,144 (GRCm39)		probably null	Het
Lmtk2	A	G	5: 144,111,407 (GRCm39)	E709G	probably damaging	Het
Lrfn3	T	C	7: 30,055,352 (GRCm39)	H531R	possibly damaging	Het
Mark3	A	G	12: 111,589,759 (GRCm39)		probably benign	Het
Mov10	T	C	3: 104,702,490 (GRCm39)	E997G	probably damaging	Het
Myo15a	T	A	11: 60,395,157 (GRCm39)	W2484R	probably benign	Het
Myo1g	G	T	11: 6,459,372 (GRCm39)	Q833K	probably benign	Het
Ncoa3	T	A	2: 165,897,430 (GRCm39)	D740E	probably benign	Het
Nol12	A	G	15: 78,822,153 (GRCm39)		probably benign	Het
Nrxn2	T	A	19: 6,493,642 (GRCm39)		probably null	Het
Nsfl1c	A	C	2: 151,342,666 (GRCm39)	I79L	probably benign	Het
Or52b2	T	C	7: 104,986,468 (GRCm39)	I152V	probably benign	Het
Or5b108	A	G	19: 13,168,662 (GRCm39)	I210M	probably benign	Het
Or5k1	G	T	16: 58,617,811 (GRCm39)	H133N	probably benign	Het
Osbpl8	A	C	10: 111,127,442 (GRCm39)	E842A	probably benign	Het
Pdxk	G	T	10: 78,276,645 (GRCm39)	T310K	probably benign	Het
Phip	T	G	9: 82,841,658 (GRCm39)	K54Q	probably damaging	Het
Pklr	A	T	3: 89,050,342 (GRCm39)	D366V	probably damaging	Het
Plxna2	T	A	1: 194,433,848 (GRCm39)		probably benign	Het
Ppp4r3a	A	T	12: 101,009,783 (GRCm39)	V618E	probably damaging	Het
Prdm12	A	T	2: 31,530,319 (GRCm39)	Q70L	possibly damaging	Het
Ptgr3	A	G	18: 84,112,596 (GRCm39)	K91E	probably benign	Het
Ptpn21	A	T	12: 98,654,849 (GRCm39)	M706K	probably damaging	Het
Ptprq	A	T	10: 107,422,575 (GRCm39)	F1606I	probably damaging	Het
Rasgrp4	T	C	7: 28,837,152 (GRCm39)		probably null	Het
Rlbp1	C	A	7: 79,029,661 (GRCm39)		probably null	Het
Rtp2	T	C	16: 23,746,193 (GRCm39)	D166G	probably benign	Het
Ryr3	A	C	2: 112,475,604 (GRCm39)	F4481V	probably damaging	Het
Scn2a	A	G	2: 65,532,335 (GRCm39)	D649G	possibly damaging	Het
Slc30a5	T	A	13: 100,939,950 (GRCm39)	D655V	probably damaging	Het
Slco5a1	G	A	1: 12,942,132 (GRCm39)	A838V	probably benign	Het
Spata6l	G	T	19: 28,905,039 (GRCm39)		probably benign	Het
Srprb	A	G	9: 103,067,501 (GRCm39)	V239A	probably damaging	Het
Tceanc2	T	C	4: 107,004,837 (GRCm39)	T104A	probably benign	Het
Tcp1	T	C	17: 13,141,493 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,239,385 (GRCm39)	R1056*	probably null	Het
Wdr19	G	A	5: 65,380,847 (GRCm39)		probably benign	Het
Zfhx4	T	A	3: 5,306,919 (GRCm39)	H48Q	probably benign	Het
Zfp787	T	A	7: 6,135,234 (GRCm39)	H339L	probably damaging	Het
Zfp839	G	T	12: 110,827,333 (GRCm39)	R408L	probably benign	Het

Other mutations in Ddx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Ddx1	APN	12	13,295,691 (GRCm39)	missense	probably damaging	1.00
IGL00725:Ddx1	APN	12	13,277,460 (GRCm39)	splice site	probably benign
IGL00958:Ddx1	APN	12	13,290,849 (GRCm39)	splice site	probably null
IGL01786:Ddx1	APN	12	13,279,137 (GRCm39)	missense	probably benign
IGL02832:Ddx1	APN	12	13,277,318 (GRCm39)	nonsense	probably null
IGL02983:Ddx1	APN	12	13,273,863 (GRCm39)	missense	probably damaging	1.00
R0201:Ddx1	UTSW	12	13,273,809 (GRCm39)	missense	probably damaging	1.00
R0931:Ddx1	UTSW	12	13,287,818 (GRCm39)	splice site	probably benign
R1558:Ddx1	UTSW	12	13,289,542 (GRCm39)	missense	probably damaging	1.00
R1673:Ddx1	UTSW	12	13,294,967 (GRCm39)	critical splice donor site	probably null
R1854:Ddx1	UTSW	12	13,279,332 (GRCm39)	missense	probably benign	0.19
R2910:Ddx1	UTSW	12	13,281,441 (GRCm39)	splice site	probably null
R2911:Ddx1	UTSW	12	13,281,441 (GRCm39)	splice site	probably null
R4181:Ddx1	UTSW	12	13,281,504 (GRCm39)	nonsense	probably null
R4182:Ddx1	UTSW	12	13,281,504 (GRCm39)	nonsense	probably null
R4183:Ddx1	UTSW	12	13,281,504 (GRCm39)	nonsense	probably null
R4231:Ddx1	UTSW	12	13,273,858 (GRCm39)	missense	possibly damaging	0.74
R4234:Ddx1	UTSW	12	13,273,858 (GRCm39)	missense	possibly damaging	0.74
R4235:Ddx1	UTSW	12	13,273,858 (GRCm39)	missense	possibly damaging	0.74
R4243:Ddx1	UTSW	12	13,290,910 (GRCm39)	nonsense	probably null
R4717:Ddx1	UTSW	12	13,290,888 (GRCm39)	missense	probably damaging	1.00
R4821:Ddx1	UTSW	12	13,289,148 (GRCm39)	missense	probably damaging	1.00
R5032:Ddx1	UTSW	12	13,273,993 (GRCm39)	missense	probably damaging	1.00
R5082:Ddx1	UTSW	12	13,270,436 (GRCm39)	nonsense	probably null
R5528:Ddx1	UTSW	12	13,279,295 (GRCm39)	missense	probably damaging	1.00
R5997:Ddx1	UTSW	12	13,287,800 (GRCm39)	missense	probably damaging	1.00
R6398:Ddx1	UTSW	12	13,295,721 (GRCm39)	missense	probably damaging	1.00
R6891:Ddx1	UTSW	12	13,286,096 (GRCm39)	missense	probably benign	0.25
R7085:Ddx1	UTSW	12	13,279,356 (GRCm39)	missense	probably damaging	1.00
R7125:Ddx1	UTSW	12	13,293,864 (GRCm39)	missense	probably benign	0.18
R7307:Ddx1	UTSW	12	13,273,960 (GRCm39)	missense	probably damaging	1.00
R7388:Ddx1	UTSW	12	13,275,456 (GRCm39)	missense	probably null	1.00
R7393:Ddx1	UTSW	12	13,280,354 (GRCm39)	missense	probably benign	0.03
R7460:Ddx1	UTSW	12	13,281,440 (GRCm39)	splice site	probably null
R8310:Ddx1	UTSW	12	13,274,280 (GRCm39)	intron	probably benign
R8479:Ddx1	UTSW	12	13,270,749 (GRCm39)	missense	probably damaging	0.97
R8712:Ddx1	UTSW	12	13,293,859 (GRCm39)	critical splice donor site	probably benign
R8790:Ddx1	UTSW	12	13,273,993 (GRCm39)	missense	probably damaging	1.00
R8826:Ddx1	UTSW	12	13,277,332 (GRCm39)	missense	probably damaging	1.00
R9120:Ddx1	UTSW	12	13,275,458 (GRCm39)	missense	possibly damaging	0.89
R9214:Ddx1	UTSW	12	13,286,119 (GRCm39)	missense	probably benign
R9400:Ddx1	UTSW	12	13,273,703 (GRCm39)	missense	probably damaging	1.00
X0011:Ddx1	UTSW	12	13,279,416 (GRCm39)	missense	probably damaging	1.00
X0028:Ddx1	UTSW	12	13,293,867 (GRCm39)	missense	probably benign	0.00
Z1177:Ddx1	UTSW	12	13,279,260 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAGCATATCACTGCCATCAAGACTGAG -3'
(R):5'- TGGTCTGGCATTTGAAATACCAGCAC -3'

Sequencing Primer
(F):5'- CTGAGGTAGCTTAAGAGCCTTAAC -3'
(R):5'- aaaggggaagggtgggg -3'

Posted On

2014-03-14