Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Ddx1'

567332

Institutional Source

Beutler Lab

Gene Symbol

Ddx1

Ensembl Gene

ENSMUSG00000037149

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13216973-13249213 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 13223959 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 581 (I581N)

Ref Sequence

ENSEMBL: ENSMUSP00000065987 (fasta)

Gene Model

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

AlphaFold

Q91VR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000071103
AA Change: I581N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065987
Gene: ENSMUSG00000037149
AA Change: I581N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 17,118,395	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,813	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 80,029,182	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,347,120		probably null	Het
B4galnt3	T	C	6: 120,215,431	D448G	probably benign	Het
Capn1	C	G	19: 5,993,908	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,399,384	S474P	probably benign	Het
Cdk12	T	A	11: 98,249,800	L1289*	probably null	Het
Cramp1l	A	T	17: 24,974,745	N920K	possibly damaging	Het
Cubn	C	T	2: 13,340,332	S2091N	probably damaging	Het
Dnm2	A	T	9: 21,485,687	N487Y	probably damaging	Het
Enc1	A	C	13: 97,245,093	N37T	probably damaging	Het
Ephb3	T	G	16: 21,222,226	I932S	probably benign	Het
Frk	T	A	10: 34,591,938	M316K	probably damaging	Het
Gdap2	C	T	3: 100,202,033	R25C	unknown	Het
Gm10436	A	C	12: 88,181,749	C32W	probably damaging	Het
Gpat2	T	A	2: 127,434,890	D671E	probably damaging	Het
Gpr179	C	T	11: 97,338,846	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,007,833	S69N	probably damaging	Het
Hid1	A	C	11: 115,348,482	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,343,081	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,619,769	F120L	probably damaging	Het
Kif16b	C	T	2: 142,712,931	R649Q	probably benign	Het
Kif17	A	T	4: 138,262,643	E47D	probably benign	Het
Kmt2b	T	C	7: 30,580,471	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,849,418	S3342T	unknown	Het
Krt82	A	G	15: 101,542,907	C356R	probably damaging	Het
Lrit2	A	G	14: 37,072,199	K407E	probably benign	Het
Malt1	T	A	18: 65,451,569	H325Q	possibly damaging	Het
Mccc2	T	G	13: 99,988,600	D187A	possibly damaging	Het
Mgll	T	A	6: 88,814,121		probably null	Het
Mindy2	T	G	9: 70,610,959	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,842,294	V96M	unknown	Het
Nlrp4e	A	G	7: 23,321,528	E480G	probably benign	Het
Nup98	A	G	7: 102,134,795	I1093T	probably benign	Het
Olfr1288	A	T	2: 111,478,760		probably benign	Het
Olfr243	G	T	7: 103,716,966	R124L	probably damaging	Het
Olfr350	G	A	2: 36,850,125	M26I	probably benign	Het
Olfr541	G	A	7: 140,705,147	V299I	probably benign	Het
Pcdhb6	A	T	18: 37,335,478	H484L	probably benign	Het
Phldb1	T	C	9: 44,694,047	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 72,070,964	A275D	probably damaging	Het
Polr2a	A	T	11: 69,747,292		probably null	Het
Polr3a	A	G	14: 24,459,987	C960R	probably benign	Het
Pou6f2	G	A	13: 18,239,713	A159V		Het
Pramef6	A	C	4: 143,896,775	Y276*	probably null	Het
Psmc4	A	G	7: 28,042,660	V303A	probably benign	Het
Ptdss2	A	G	7: 141,151,732	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,589,008	Y1295*	probably null	Het
Rbm19	A	G	5: 120,186,218	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,021,102	Y183*	probably null	Het
Rnd1	T	C	15: 98,670,799	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,418,179	C282S	probably damaging	Het
S100b	G	A	10: 76,257,092	G20R	probably benign	Het
Sae1	G	T	7: 16,368,544	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600	G1554*	probably null	Het
Samhd1	T	C	2: 157,135,020	S55G	probably benign	Het
Sgsm1	T	C	5: 113,273,646	D525G	probably benign	Het
Slc28a3	A	T	13: 58,563,172	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,318,390	N67K	probably benign	Het
Smarca4	T	A	9: 21,638,800	I402N	probably damaging	Het
St7l	T	C	3: 104,889,353	F261L	probably benign	Het
Syde2	T	A	3: 146,015,798	V1140D	probably damaging	Het
Syt6	T	A	3: 103,587,472	I251N	probably damaging	Het
Taok2	T	C	7: 126,866,818	E916G	probably damaging	Het
Tecta	A	G	9: 42,377,992	S426P	probably damaging	Het
Thra	T	C	11: 98,764,308	I338T	probably damaging	Het
Trub1	A	T	19: 57,472,703	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,545	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,183,500	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,330,541	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,313,250	Y100H	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
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
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'- ACTTGACGGTACCTTTCAGC -3'
(R):5'- TTAATGTCATCTCAGCAGACCATAG -3'

Sequencing Primer
(F):5'- GACGGTACCTTTCAGCTCGTC -3'
(R):5'- GAGTAAAATTTCAGGATTTGGTGCAG -3'

Posted On

2019-06-26