Mutagenetix > Incidental Mutation

Incidental Mutation 'R2965:Ddx43'

256023

Institutional Source

Beutler Lab

Gene Symbol

Ddx43

Ensembl Gene

ENSMUSG00000070291

Gene Name

DEAD box helicase 43

Synonyms

ENSMUSG00000070291, DEAD (Asp-Glu-Ala-Asp) box polypeptide 43, OTTMUSG00000019690

MMRRC Submission

040521-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.227) question?

Stock #

R2965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78303059-78330869 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 78313661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 197 (Y197*)

Ref Sequence

ENSEMBL: ENSMUSP00000108994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113367]

AlphaFold

D3Z6P9

Predicted Effect

probably null
Transcript: ENSMUST00000113367
AA Change: Y197*

SMART Domains

Protein: ENSMUSP00000108994
Gene: ENSMUSG00000070291
AA Change: Y197*

Domain	Start	End	E-Value	Type
KH	65	132	3.54e-8	SMART
DEXDc	259	462	5.23e-57	SMART
HELICc	499	580	1.18e-32	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,275,829 (GRCm39)	R511*	probably null	Het
Add1	C	A	5: 34,788,058 (GRCm39)	D702E	probably benign	Het
Aff3	A	G	1: 38,248,791 (GRCm39)	I772T	probably damaging	Het
Ankar	T	C	1: 72,714,979 (GRCm39)	I382V	probably benign	Het
Anks1	A	G	17: 28,272,879 (GRCm39)	T925A	probably benign	Het
Asprv1	T	A	6: 86,605,348 (GRCm39)	C65S	probably damaging	Het
Atp8a1	T	C	5: 67,805,049 (GRCm39)	D1022G	probably benign	Het
Cep250	A	G	2: 155,836,798 (GRCm39)	K2256E	probably benign	Het
Chsy1	G	A	7: 65,821,912 (GRCm39)	G716R	probably damaging	Het
Cntln	T	C	4: 84,892,264 (GRCm39)		probably null	Het
Col13a1	G	A	10: 61,797,110 (GRCm39)	R106W	probably damaging	Het
Col2a1	A	G	15: 97,873,976 (GRCm39)	I1402T	unknown	Het
Col4a3	T	C	1: 82,626,321 (GRCm39)	L86P	unknown	Het
Cul9	A	G	17: 46,813,154 (GRCm39)	V2355A	probably damaging	Het
Dnah7b	T	A	1: 46,246,732 (GRCm39)	I1636N	probably damaging	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Dyrk2	T	A	10: 118,696,242 (GRCm39)	K339*	probably null	Het
Fam187b	A	C	7: 30,677,154 (GRCm39)	D221A	probably benign	Het
Fbxw21	A	G	9: 108,974,578 (GRCm39)	I314T	probably benign	Het
Fgd6	T	A	10: 93,880,056 (GRCm39)	F303L	probably benign	Het
Fstl3	T	C	10: 79,617,057 (GRCm39)	V200A	probably benign	Het
Gm10784	A	T	13: 50,099,233 (GRCm39)		noncoding transcript	Het
Gpr45	G	A	1: 43,071,668 (GRCm39)	D104N	possibly damaging	Het
Gria1	C	T	11: 57,076,627 (GRCm39)	Q8*	probably null	Het
H2-T22	A	G	17: 36,351,537 (GRCm39)	L231S	probably damaging	Het
Ice1	A	T	13: 70,750,697 (GRCm39)	D1796E	probably benign	Het
Ing1	T	A	8: 11,611,641 (GRCm39)	S26R	probably benign	Het
Klhl2	C	T	8: 65,205,794 (GRCm39)	V376M	probably benign	Het
Lrriq1	A	G	10: 103,050,761 (GRCm39)	S664P	probably benign	Het
Ltf	G	T	9: 110,857,540 (GRCm39)	C443F	possibly damaging	Het
Mgam	T	C	6: 40,745,154 (GRCm39)	V1807A	possibly damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Mycbp2	A	G	14: 103,534,794 (GRCm39)	V304A	probably benign	Het
Nek10	T	C	14: 14,836,202 (GRCm38)	L141P	probably damaging	Het
Noa1	T	C	5: 77,454,191 (GRCm39)	E483G	possibly damaging	Het
Or5b101	C	T	19: 13,005,412 (GRCm39)	A94T	probably benign	Het
Pkd1l1	T	A	11: 8,824,236 (GRCm39)	S1110C	probably damaging	Het
Potefam1	A	T	2: 111,034,364 (GRCm39)	S359T	possibly damaging	Het
Ppp4r4	T	C	12: 103,579,080 (GRCm39)	S873P	probably damaging	Het
Prss35	A	G	9: 86,637,635 (GRCm39)	D135G	probably damaging	Het
Pth	T	C	7: 112,985,136 (GRCm39)	H79R	probably benign	Het
Rab21	T	C	10: 115,130,814 (GRCm39)	N164S	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Slc4a5	C	T	6: 83,273,651 (GRCm39)	T997I	probably damaging	Het
Ssrp1	A	G	2: 84,871,930 (GRCm39)	T385A	possibly damaging	Het
Tcf15	T	C	2: 151,985,871 (GRCm39)	I109T	probably damaging	Het
Tcp11	C	A	17: 28,288,239 (GRCm39)	D330Y	probably benign	Het
Tktl2	T	A	8: 66,964,715 (GRCm39)	V91E	probably benign	Het
Usp48	G	A	4: 137,341,073 (GRCm39)	V358M	probably damaging	Het
Vmn1r228	A	G	17: 20,996,609 (GRCm39)	I303T	probably damaging	Het
Zfp229	T	G	17: 21,965,010 (GRCm39)	H413Q	probably damaging	Het

Other mutations in Ddx43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02219:Ddx43	APN	9	78,324,001 (GRCm39)	missense	probably damaging	1.00
IGL02325:Ddx43	APN	9	78,309,772 (GRCm39)	splice site	probably benign
IGL03197:Ddx43	APN	9	78,325,402 (GRCm39)	missense	probably benign	0.03
IGL03296:Ddx43	APN	9	78,306,380 (GRCm39)	critical splice donor site	probably null
R0571:Ddx43	UTSW	9	78,321,145 (GRCm39)	missense	possibly damaging	0.63
R1567:Ddx43	UTSW	9	78,323,991 (GRCm39)	missense	probably damaging	0.99
R2061:Ddx43	UTSW	9	78,303,386 (GRCm39)	missense	probably benign	0.02
R2966:Ddx43	UTSW	9	78,313,661 (GRCm39)	nonsense	probably null
R5894:Ddx43	UTSW	9	78,324,016 (GRCm39)	missense	probably damaging	1.00
R6013:Ddx43	UTSW	9	78,321,567 (GRCm39)	missense	probably damaging	1.00
R6414:Ddx43	UTSW	9	78,308,218 (GRCm39)	missense	probably benign	0.05
R7158:Ddx43	UTSW	9	78,319,501 (GRCm39)	missense	probably damaging	1.00
R7403:Ddx43	UTSW	9	78,321,133 (GRCm39)	missense	probably damaging	1.00
R7611:Ddx43	UTSW	9	78,309,635 (GRCm39)	missense	probably benign
R8785:Ddx43	UTSW	9	78,329,041 (GRCm39)	missense	possibly damaging	0.47
R9474:Ddx43	UTSW	9	78,313,668 (GRCm39)	missense	probably damaging	1.00
R9640:Ddx43	UTSW	9	78,303,389 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTGGGTGAAAACTATAGTTGAAAG -3'
(R):5'- ATTTTCAGCTGAGCAAACATGG -3'

Sequencing Primer
(F):5'- GAAACCTTTTAGACTGGCATAAGC -3'
(R):5'- TTTCAGCTGAGCAAACATGGAAGTTG -3'

Posted On

2014-12-29