Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00725:Ddx1'

13405

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx1

Ensembl Gene

ENSMUSG00000037149

Gene Name

DEAD box helicase 1

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00725

Quality Score

Status

Chromosome

Chromosomal Location

13269308-13299175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13295691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 43 (L43P)

Ref Sequence

ENSEMBL: ENSMUSP00000065987 (fasta)

Gene Model

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

AlphaFold

Q91VR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000071103
AA Change: L43P

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

SMART Domains

Protein: ENSMUSP00000065987
Gene: ENSMUSG00000037149
AA Change: L43P

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

Coding Region Coverage

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp11b	G	T	3: 35,881,222 (GRCm39)	R593L	probably damaging	Het
Axl	A	T	7: 25,463,908 (GRCm39)	D566E	probably damaging	Het
Ccp110	A	G	7: 118,329,946 (GRCm39)	D912G	probably damaging	Het
Clca3b	C	T	3: 144,544,923 (GRCm39)	D355N	probably benign	Het
Clock	A	C	5: 76,402,260 (GRCm39)	Y133*	probably null	Het
Cntn4	T	A	6: 106,639,616 (GRCm39)	V582E	probably damaging	Het
Dnase2b	G	A	3: 146,302,133 (GRCm39)	T8I	probably benign	Het
Ermard	T	C	17: 15,208,328 (GRCm39)		probably benign	Het
Gtf3c2	A	G	5: 31,331,752 (GRCm39)	V22A	probably damaging	Het
Ifi208	T	C	1: 173,510,427 (GRCm39)	I194T	possibly damaging	Het
Krt9	T	A	11: 100,080,832 (GRCm39)	E340V	probably damaging	Het
Nup58	G	T	14: 60,480,889 (GRCm39)	T152K	possibly damaging	Het
Otog	A	G	7: 45,923,516 (GRCm39)	S1050G	probably damaging	Het
Prkdc	A	G	16: 15,634,503 (GRCm39)	N3580S	probably benign	Het
Rsbn1	T	C	3: 103,836,137 (GRCm39)	S392P	probably damaging	Het
Sestd1	T	C	2: 77,018,866 (GRCm39)	I647V	probably benign	Het
Sugct	A	T	13: 17,837,357 (GRCm39)	S91R	probably damaging	Het
Syne1	A	G	10: 5,344,922 (GRCm38)	Y1227S	possibly damaging	Het
Synpo	C	T	18: 60,737,149 (GRCm39)	V27I	probably damaging	Het
Tcp11l2	T	C	10: 84,430,574 (GRCm39)	I233T	possibly damaging	Het
Vwde	A	G	6: 13,187,411 (GRCm39)	V692A	probably benign	Het

Other mutations in Ddx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1434:Ddx1	UTSW	12	13,287,232 (GRCm39)	missense	probably benign	0.01
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

Posted On

2012-12-06