Mutagenetix > Incidental Mutation

Incidental Mutation 'R1673:Ddx1'

187843

Institutional Source

Beutler Lab

Gene Symbol

Ddx1

Ensembl Gene

ENSMUSG00000037149

Gene Name

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

Synonyms

MMRRC Submission

039709-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13216973-13249213 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 13244966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152513 (fasta)

Gene Model

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

AlphaFold

Q91VR5

Predicted Effect

probably null
Transcript: ENSMUST00000071103

SMART Domains

Protein: ENSMUSP00000065987
Gene: ENSMUSG00000037149

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 null
Transcript: ENSMUST00000221623

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,212,339	S809G	probably benign	Het
Ap4b1	T	A	3: 103,817,845		probably null	Het
Aqp12	A	G	1: 93,006,884	Q161R	possibly damaging	Het
Atp8a2	A	G	14: 59,791,240	I926T	probably benign	Het
Cacna2d1	A	T	5: 16,299,990	N314I	probably damaging	Het
Cd209d	A	G	8: 3,877,113	S81P	probably damaging	Het
Cdcp1	T	A	9: 123,178,021	K554*	probably null	Het
Celsr1	A	G	15: 85,932,457	Y1762H	probably benign	Het
Cklf	A	G	8: 104,257,351	T49A	possibly damaging	Het
Col12a1	T	G	9: 79,693,538	I755L	probably benign	Het
Cts3	G	A	13: 61,567,554	Q140*	probably null	Het
Dnah3	C	A	7: 119,971,179	E2262*	probably null	Het
Dnah5	A	G	15: 28,290,148	N1228S	probably benign	Het
Dsg1a	G	A	18: 20,331,504	R352Q	probably damaging	Het
Efcab5	A	G	11: 77,151,853	F25L	probably damaging	Het
Efhd1	T	A	1: 87,264,682	V78D	probably damaging	Het
Eif5a2	T	C	3: 28,793,818		probably null	Het
Elp2	T	A	18: 24,611,926	V101D	possibly damaging	Het
Enpp2	A	T	15: 54,910,196		probably null	Het
F5	A	G	1: 164,179,520	T298A	probably damaging	Het
Fam208b	A	G	13: 3,584,498		probably null	Het
Fbxo21	G	T	5: 118,008,064	R584L	probably benign	Het
Fbxw22	G	T	9: 109,382,128	F368L	possibly damaging	Het
Gcn1l1	T	C	5: 115,582,297	I409T	probably benign	Het
Gm10260	A	T	13: 97,760,360	Y77N	possibly damaging	Het
Gm12887	T	C	4: 121,616,458	Y65C	probably damaging	Het
Gria4	G	A	9: 4,537,637	Q224*	probably null	Het
Hdac5	C	T	11: 102,198,805	V860M	probably damaging	Het
Ino80	G	A	2: 119,381,936	R1302C	probably damaging	Het
Kcns2	A	T	15: 34,838,820	I110F	probably damaging	Het
Lrig3	A	G	10: 126,010,167	T822A	probably damaging	Het
Mapk6	T	C	9: 75,395,569	D214G	probably damaging	Het
Mcm2	A	T	6: 88,892,078	L264Q	probably benign	Het
Mpnd	A	T	17: 56,010,455	Y64F	probably damaging	Het
Muc1	T	A	3: 89,231,772	M520K	possibly damaging	Het
Muc4	T	A	16: 32,756,902	S189T	probably benign	Het
Myh13	T	C	11: 67,352,119	S953P	possibly damaging	Het
Ncf2	A	T	1: 152,830,479	M281L	probably benign	Het
Nipal2	A	G	15: 34,648,695	I116T	probably damaging	Het
Nptn	T	C	9: 58,623,732	L46P	probably benign	Het
Olfr11	A	T	13: 21,639,044	S160T	probably damaging	Het
Olfr1283	A	G	2: 111,369,207	T192A	probably benign	Het
Olfr290	T	A	7: 84,916,117	F113I	probably damaging	Het
Olfr610	C	A	7: 103,506,689	V86F	probably damaging	Het
Pgr	A	T	9: 8,902,068	Y534F	possibly damaging	Het
Pip4k2a	A	T	2: 18,872,282		probably null	Het
Pkd1l2	C	G	8: 117,040,775	V1259L	probably benign	Het
Ppp1r12a	A	G	10: 108,249,565	E457G	probably damaging	Het
Rasa4	T	A	5: 136,104,637	V650D	probably benign	Het
Rem2	C	T	14: 54,476,309		probably benign	Het
Sdc1	G	A	12: 8,790,409	R62Q	possibly damaging	Het
Sdk1	A	G	5: 141,948,506	E366G	possibly damaging	Het
Setd2	T	A	9: 110,604,180	H2406Q	probably damaging	Het
Slc30a5	A	G	13: 100,813,383	V397A	probably benign	Het
Slc36a2	A	T	11: 55,184,913	L16H	possibly damaging	Het
Slc44a1	T	C	4: 53,542,468	V334A	probably benign	Het
Sox8	A	T	17: 25,567,482	Y416N	possibly damaging	Het
Speg	T	C	1: 75,411,163	V1416A	possibly damaging	Het
Stk24	T	A	14: 121,337,571	I42F	probably damaging	Het
Tcerg1	T	A	18: 42,552,581	L661Q	possibly damaging	Het
Tmem110	T	C	14: 30,864,434	L72S	possibly damaging	Het
Tpp1	G	A	7: 105,747,673	R417W	probably damaging	Het
Trim12a	T	A	7: 104,306,057	D153V	possibly damaging	Het
Trpm2	T	C	10: 77,942,944	N396S	probably benign	Het
Ttn	T	C	2: 76,807,083	K5695R	probably damaging	Het
Ttn	G	A	2: 76,810,287	R11960C	probably damaging	Het
Tulp3	A	C	6: 128,333,943		probably null	Het
Uaca	T	A	9: 60,872,156	L1273H	probably damaging	Het
Usp33	A	G	3: 152,368,282	E255G	probably damaging	Het
Vmn2r54	T	G	7: 12,616,211		probably null	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wnt5b	A	T	6: 119,446,354	F116L	probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 34,896,308		probably null	Het
Zbtb12	TCATC	TCATCCATC	17: 34,896,310		probably null	Het
Zfp408	G	A	2: 91,646,008	T367I	probably damaging	Het
Zfp512b	G	A	2: 181,588,493	A480V	possibly damaging	Het
Zfp560	T	C	9: 20,347,653	T638A	probably benign	Het
Zfp932	G	T	5: 110,008,988	G151V	probably damaging	Het
Zpbp	T	C	11: 11,352,696	K320E	probably damaging	Het
Zranb2	C	T	3: 157,537,640	P91L	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
R0201:Ddx1	UTSW	12	13223808	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
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'- TGCCTCCTCCTGTAAGACCTCTTTAAAT -3'
(R):5'- GAGTGGTGACCCAATACACAAGAATCAA -3'

Sequencing Primer
(F):5'- tgtaagtctttccttttcctccc -3'
(R):5'- TACACAAGAATCAAAGTTGCCTGG -3'

Posted On

2014-05-09