Mutagenetix > Incidental Mutation

Incidental Mutation 'R5997:Ddx1'

480640

Institutional Source

Beutler Lab

Gene Symbol

Ddx1

Ensembl Gene

ENSMUSG00000037149

Gene Name

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

Synonyms

MMRRC Submission

044176-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5997 (G1)

Quality Score

186.009

Status

Validated

Chromosome

Chromosomal Location

13216973-13249213 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13237799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 168 (D168G)

Ref Sequence

ENSEMBL: ENSMUSP00000152513 (fasta)

Gene Model

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

AlphaFold

Q91VR5

Predicted Effect

probably benign
Transcript: ENSMUST00000071103
AA Change: D211G

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000065987
Gene: ENSMUSG00000037149
AA Change: D211G

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 damaging
Transcript: ENSMUST00000221623
AA Change: D168G

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

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.5%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,876,373	D38V	probably benign	Het
Abcb9	A	T	5: 124,089,815	V121E	possibly damaging	Het
Adamts20	T	A	15: 94,379,747	Y278F	probably damaging	Het
Adcy7	A	T	8: 88,326,392	D972V	probably benign	Het
Adgrf3	C	A	5: 30,198,362		probably null	Het
Ahdc1	G	T	4: 133,063,895	G816C	probably benign	Het
Aifm3	A	G	16: 17,502,130	K283E	probably benign	Het
Akap6	T	C	12: 52,937,233		probably null	Het
Ank1	T	C	8: 23,099,662	L593P	probably damaging	Het
Apol11b	T	A	15: 77,635,497	T128S	probably benign	Het
C1qtnf7	C	A	5: 43,616,085	T235K	probably damaging	Het
Camk2a	A	T	18: 60,977,957	I73F	probably damaging	Het
Cd109	G	T	9: 78,705,062	V1244F	possibly damaging	Het
Cep164	A	G	9: 45,769,463	L1240S	possibly damaging	Het
Cnga1	T	A	5: 72,604,575	D532V	probably damaging	Het
Cyp4a14	A	T	4: 115,496,100	L5*	probably null	Het
Cyp4a30b	A	T	4: 115,459,391	K405*	probably null	Het
Dchs1	T	C	7: 105,754,095	D3080G	probably benign	Het
Dhx57	T	G	17: 80,245,806	K1231Q	probably damaging	Het
Dnah14	A	G	1: 181,770,105	N3640D	probably benign	Het
Dock4	T	A	12: 40,755,834	L935Q	probably damaging	Het
Dus2	A	T	8: 106,046,066	R269S	probably benign	Het
E230025N22Rik	G	A	18: 36,689,108	R201C	possibly damaging	Het
Erbb3	G	A	10: 128,583,185	T269M	probably damaging	Het
Fam71f2	T	A	6: 29,290,424	L267*	probably null	Het
Fbxo43	T	C	15: 36,162,093	R323G	probably damaging	Het
Fktn	A	G	4: 53,735,061	H233R	probably benign	Het
Ftsj3	A	T	11: 106,252,251	D412E	probably damaging	Het
Fzd7	A	T	1: 59,484,544	M529L	probably benign	Het
Fzr1	T	A	10: 81,370,826		probably null	Het
Ganc	T	G	2: 120,430,605	V257G	possibly damaging	Het
Gm4131	T	C	14: 62,464,758	K254E	probably damaging	Het
Gm6583	C	T	5: 112,355,008	V277M	possibly damaging	Het
Gm7347	G	T	5: 26,057,249	Y91*	probably null	Het
Gm9857	G	A	3: 108,940,165		probably benign	Het
Grpel1	T	C	5: 36,465,248	S19P	probably benign	Het
Gtf3c4	T	C	2: 28,833,711	K670E	possibly damaging	Het
Hist1h2bf	G	A	13: 23,574,103		probably benign	Het
Hmcn1	G	T	1: 150,704,173	Q1938K	possibly damaging	Het
Hnrnpk	T	C	13: 58,399,157	D71G	probably damaging	Het
Hspa4l	G	A	3: 40,767,979	R311H	probably damaging	Het
Igkv3-5	T	A	6: 70,663,704	F56L	probably benign	Het
Igkv6-20	T	A	6: 70,335,914	T92S	possibly damaging	Het
Krt8	C	T	15: 102,000,594	V200I	possibly damaging	Het
Lamb2	A	T	9: 108,480,388	T66S	possibly damaging	Het
Lamp3	A	G	16: 19,701,028	L135S	probably benign	Het
Lrguk	A	G	6: 34,129,143	Y701C	probably damaging	Het
Mcc	G	T	18: 44,449,321	L588M	probably damaging	Het
Mcidas	T	A	13: 112,998,586	L234Q	probably damaging	Het
Mtmr14	T	A	6: 113,280,614	L208Q	probably damaging	Het
Myof	A	G	19: 37,905,299	F1139L	possibly damaging	Het
Nlrp14	C	A	7: 107,182,496	T300K	probably benign	Het
Olfr1474	A	G	19: 13,471,506	I179V	probably benign	Het
Olfr165	T	A	16: 19,407,944	H24L	probably benign	Het
Olfr716	A	T	7: 107,147,328	E4V	possibly damaging	Het
Olfr890	A	T	9: 38,143,801	Y217F	probably damaging	Het
Orc2	A	G	1: 58,472,388	I354T	probably damaging	Het
Pard3b	G	T	1: 62,076,409	S140I	probably damaging	Het
Pcgf5	A	G	19: 36,434,603	D49G	probably benign	Het
Pcsk6	T	C	7: 65,959,293	F388S	probably damaging	Het
Prokr2	A	C	2: 132,381,442	I60S	probably damaging	Het
Rab33b	A	G	3: 51,484,479	T50A	possibly damaging	Het
Rbms3	T	C	9: 116,719,389	D61G	probably damaging	Het
Rhcg	T	A	7: 79,600,514	K274*	probably null	Het
Rnf112	C	T	11: 61,451,022	V319M	possibly damaging	Het
Rnf44	A	T	13: 54,682,800	S265T	possibly damaging	Het
Sf3a3	A	G	4: 124,722,058	D168G	probably damaging	Het
Sik2	A	G	9: 50,895,342		probably null	Het
Slco1a5	T	A	6: 142,253,113	L275F	probably benign	Het
Smtnl1	T	C	2: 84,815,378	H383R	probably damaging	Het
Spns3	T	G	11: 72,539,078	T175P	probably damaging	Het
Togaram1	A	G	12: 64,995,538	T1174A	probably benign	Het
Tradd	C	T	8: 105,260,645	E10K	possibly damaging	Het
Ttc7b	A	T	12: 100,373,560	Y579N	probably damaging	Het
Uncx	G	A	5: 139,547,589	G470R	probably damaging	Het
Vav3	T	A	3: 109,501,461	M177K	probably damaging	Het
Wfs1	A	T	5: 36,967,750	I599N	probably damaging	Het
Zfp454	G	A	11: 50,873,622	H217Y	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
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'- AATTATCTGGGGCCTTGGAAAG -3'
(R):5'- TGAAGTCACACGGTAACTAGG -3'

Sequencing Primer
(F):5'- CTGGAATAGTCGAACCTCTGACTG -3'
(R):5'- CACACGGTAACTAGGTTGGCTCTAG -3'

Posted On

2017-06-26