Mutagenetix > Incidental Mutation

Incidental Mutation 'R4231:Ddx1'

320867

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

041050-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4231 (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 13273858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 590 (V590I)

Ref Sequence

ENSEMBL: ENSMUSP00000065987 (fasta)

Gene Model

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

AlphaFold

Q91VR5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071103
AA Change: V590I

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000065987
Gene: ENSMUSG00000037149
AA Change: V590I

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

noncoding transcript
Transcript: ENSMUST00000221028

Meta Mutation Damage Score

0.1872

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Ajuba	T	C	14: 54,806,983 (GRCm39)	R490G	probably damaging	Het
Akap6	A	T	12: 53,187,821 (GRCm39)	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 25,095,636 (GRCm39)	G494R	probably damaging	Het
Ankar	T	C	1: 72,697,701 (GRCm39)	D1034G	probably benign	Het
Aox3	T	A	1: 58,154,044 (GRCm39)	N23K	probably benign	Het
Arhgef18	T	C	8: 3,500,317 (GRCm39)	I541T	possibly damaging	Het
Atg14	T	C	14: 47,788,802 (GRCm39)	K184E	probably benign	Het
Bltp1	C	T	3: 36,974,385 (GRCm39)	T663I	probably benign	Het
Cacnb2	A	G	2: 14,986,251 (GRCm39)	K343E	probably damaging	Het
Casp8	T	C	1: 58,883,929 (GRCm39)	V432A	probably damaging	Het
Cd93	A	T	2: 148,284,880 (GRCm39)	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,755,834 (GRCm39)	M1V	probably null	Het
Crat	T	C	2: 30,303,023 (GRCm39)	E88G	possibly damaging	Het
Dip2a	G	A	10: 76,155,304 (GRCm39)	P94S	probably damaging	Het
Dtx3	A	G	10: 127,029,058 (GRCm39)	I60T	possibly damaging	Het
Filip1l	T	C	16: 57,327,131 (GRCm39)	S54P	probably benign	Het
Gm12887	A	T	4: 121,479,299 (GRCm39)	M1K	probably null	Het
Gm26678	T	C	3: 54,540,504 (GRCm39)		noncoding transcript	Het
Impg1	A	G	9: 80,252,611 (GRCm39)	L523P	probably damaging	Het
Insyn2b	A	T	11: 34,353,143 (GRCm39)	E395V	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Irak2	A	G	6: 113,667,817 (GRCm39)	E466G	probably damaging	Het
Irgm2	C	T	11: 58,110,304 (GRCm39)		probably benign	Het
Jak3	T	A	8: 72,138,189 (GRCm39)	V880D	probably damaging	Het
Jmy	G	T	13: 93,635,433 (GRCm39)	P128T	probably benign	Het
Kif20a	A	G	18: 34,765,091 (GRCm39)	N775S	probably benign	Het
Kremen1	G	A	11: 5,193,881 (GRCm39)	Q50*	probably null	Het
Lrrc71	A	G	3: 87,648,298 (GRCm39)	I438T	probably benign	Het
Map3k1	T	C	13: 111,905,028 (GRCm39)	T374A	probably benign	Het
Med12l	T	G	3: 59,164,644 (GRCm39)		probably null	Het
Mrps30	T	C	13: 118,523,376 (GRCm39)	D132G	probably damaging	Het
Mta1	T	C	12: 113,099,447 (GRCm39)	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,097,279 (GRCm39)	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,837,325 (GRCm39)	Q13L	probably benign	Het
Nbas	A	G	12: 13,443,344 (GRCm39)	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,767,660 (GRCm39)	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,310,137 (GRCm39)	T467S	probably damaging	Het
Or13a20	T	C	7: 140,232,653 (GRCm39)	Y254H	probably damaging	Het
Or4f17-ps1	C	T	2: 111,358,546 (GRCm39)	R314C	probably damaging	Het
Or7g30	T	A	9: 19,352,886 (GRCm39)	L226I	probably damaging	Het
Pam	A	G	1: 97,811,849 (GRCm39)		probably null	Het
Pcdh7	G	A	5: 57,876,631 (GRCm39)	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,326,762 (GRCm39)	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,094,376 (GRCm39)	S71P	probably benign	Het
Ptprq	A	T	10: 107,522,144 (GRCm39)	Y602*	probably null	Het
Rfx4	A	T	10: 84,650,558 (GRCm39)	M84L	probably benign	Het
Rfx7	A	T	9: 72,526,672 (GRCm39)	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf216	A	T	5: 143,078,845 (GRCm39)	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,541,097 (GRCm39)	V402A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sart3	A	G	5: 113,909,479 (GRCm39)	M73T	probably benign	Het
Scn10a	G	T	9: 119,460,610 (GRCm39)	T1088K	probably damaging	Het
Senp2	T	C	16: 21,830,304 (GRCm39)		probably null	Het
Setd7	T	C	3: 51,450,151 (GRCm39)	N92D	probably benign	Het
Sipa1	A	T	19: 5,704,117 (GRCm39)	L735Q	probably damaging	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,988,820 (GRCm39)	S296T	probably benign	Het
Spc24	T	C	9: 21,667,498 (GRCm39)		probably null	Het
Tex15	T	C	8: 34,062,165 (GRCm39)	S806P	probably damaging	Het
Tgm3	A	T	2: 129,886,509 (GRCm39)	K577*	probably null	Het
Wscd2	A	G	5: 113,699,045 (GRCm39)	D200G	probably benign	Het
Xpo6	T	C	7: 125,773,354 (GRCm39)	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,310,991 (GRCm39)	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,161,041 (GRCm39)	K375*	probably null	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
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
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'- TGAAACGTAGCTCACAACGACG -3'
(R):5'- TCACTGACAGACACCTCCTTG -3'

Sequencing Primer
(F):5'- GTAGCTCACAACGACGAACAGAG -3'
(R):5'- GTCTTGGTTCTCTTAGAAAGGAGAC -3'

Posted On

2015-06-12