Mutagenetix > Incidental Mutation

Incidental Mutation 'R7158:Ddx43'

557445

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

045329-MU

Accession Numbers

Essential gene?

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

Stock #

R7158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78303059-78330869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78319501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 276 (Q276H)

Ref Sequence

ENSEMBL: ENSMUSP00000108994 (fasta)

Gene Model

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

AlphaFold

D3Z6P9

Predicted Effect

probably damaging
Transcript: ENSMUST00000113367
AA Change: Q276H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108994
Gene: ENSMUSG00000070291
AA Change: Q276H

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (68/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,223,982 (GRCm39)	M454L	probably benign	Het
Abca8b	T	A	11: 109,825,415 (GRCm39)	E1595V	probably damaging	Het
Actr5	T	A	2: 158,468,334 (GRCm39)	C155S	possibly damaging	Het
Acvr1b	T	A	15: 101,091,939 (GRCm39)	V73E	probably benign	Het
Add2	T	C	6: 86,062,934 (GRCm39)	Y31H	probably damaging	Het
Akap13	G	T	7: 75,229,342 (GRCm39)	V92F	probably damaging	Het
Alox8	T	A	11: 69,076,696 (GRCm39)	M568L	probably benign	Het
Birc6	A	T	17: 74,901,371 (GRCm39)	E1145V	probably benign	Het
Bltp3a	T	A	17: 28,105,407 (GRCm39)	C644*	probably null	Het
Cacng1	A	T	11: 107,594,665 (GRCm39)	M166K	probably damaging	Het
Ces1f	A	G	8: 93,994,644 (GRCm39)	F256L	probably benign	Het
Clpb	A	G	7: 101,313,039 (GRCm39)	R8G	probably benign	Het
Col6a5	A	G	9: 105,741,407 (GRCm39)	V2504A	possibly damaging	Het
Coq8a	T	C	1: 180,006,749 (GRCm39)	D93G	probably benign	Het
Cry2	A	T	2: 92,244,060 (GRCm39)	I371N	probably damaging	Het
Dock10	T	C	1: 80,564,589 (GRCm39)		probably null	Het
Dst	A	G	1: 34,313,366 (GRCm39)	T4378A	probably benign	Het
Fezf1	T	C	6: 23,245,789 (GRCm39)	T459A	probably benign	Het
Gm10097	C	T	10: 5,019,407 (GRCm39)	A72V	unknown	Het
Hydin	A	G	8: 111,336,303 (GRCm39)	S5027G	possibly damaging	Het
Inhbb	A	T	1: 119,348,752 (GRCm39)	L22*	probably null	Het
Kat8	G	A	7: 127,521,331 (GRCm39)	G228S	probably benign	Het
Kif15	T	A	9: 122,828,379 (GRCm39)	S897T	probably benign	Het
Kndc1	A	G	7: 139,511,773 (GRCm39)	Y1460C	possibly damaging	Het
Krt78	T	A	15: 101,860,241 (GRCm39)	D225V	probably benign	Het
Lama3	A	T	18: 12,589,869 (GRCm39)	I800F	probably benign	Het
Mdn1	C	A	4: 32,725,121 (GRCm39)	T2580K	probably benign	Het
Mest	T	C	6: 30,744,913 (GRCm39)	F201S	possibly damaging	Het
Mtmr9	A	G	14: 63,764,318 (GRCm39)	F470L	probably benign	Het
Nfic	C	T	10: 81,256,439 (GRCm39)	R75Q	probably damaging	Het
Nme2	G	A	11: 93,846,484 (GRCm39)		probably benign	Het
Nrg4	A	G	9: 55,149,384 (GRCm39)	L71P	probably damaging	Het
Pacsin2	C	T	15: 83,263,943 (GRCm39)	E365K	possibly damaging	Het
Pappa	T	C	4: 65,123,104 (GRCm39)	I813T	possibly damaging	Het
Pcdhgb4	A	G	18: 37,853,938 (GRCm39)	E111G	probably damaging	Het
Pdzd8	C	T	19: 59,288,589 (GRCm39)	R937H	probably damaging	Het
Per1	T	G	11: 68,994,930 (GRCm39)		probably benign	Het
Pex2	A	G	3: 5,626,396 (GRCm39)	F138L	probably benign	Het
Pold1	A	T	7: 44,188,290 (GRCm39)	N529K	probably damaging	Het
Pou6f2	T	C	13: 18,326,623 (GRCm39)	I316V		Het
Prom1	A	C	5: 44,170,255 (GRCm39)	I682S	probably damaging	Het
Prpf40a	T	C	2: 53,042,565 (GRCm39)	K481E	probably damaging	Het
Prrg4	A	T	2: 104,662,958 (GRCm39)	V216E	probably damaging	Het
Ptch2	C	T	4: 116,971,981 (GRCm39)	P1168S	possibly damaging	Het
Pvr	C	A	7: 19,652,562 (GRCm39)	E118*	probably null	Het
R3hcc1l	C	T	19: 42,571,868 (GRCm39)	P716S	probably damaging	Het
Rasa4	A	G	5: 136,130,875 (GRCm39)	E382G	probably damaging	Het
Rbp3	T	A	14: 33,677,513 (GRCm39)	M487K	probably benign	Het
Rsad2	A	T	12: 26,500,779 (GRCm39)		probably null	Het
Shmt1	T	C	11: 60,681,068 (GRCm39)	I353V	probably benign	Het
Shprh	C	T	10: 11,042,474 (GRCm39)	T819I	probably damaging	Het
Skap1	T	A	11: 96,416,883 (GRCm39)	F56Y	possibly damaging	Het
Slc22a16	G	T	10: 40,449,737 (GRCm39)	V79L	possibly damaging	Het
Slc34a1	A	G	13: 55,549,044 (GRCm39)	T165A	probably damaging	Het
Smchd1	A	C	17: 71,707,145 (GRCm39)	I941R	probably damaging	Het
Syne1	C	A	10: 5,007,931 (GRCm39)	V98F	probably damaging	Het
Tcaim	A	G	9: 122,648,055 (GRCm39)	D190G	possibly damaging	Het
Tdrd9	G	C	12: 112,002,800 (GRCm39)	E816D	probably benign	Het
Tmem132d	T	C	5: 128,214,083 (GRCm39)	K326E	possibly damaging	Het
Usp35	T	C	7: 96,975,171 (GRCm39)	M1V	probably null	Het
Wdr62	C	T	7: 29,970,163 (GRCm39)	V215I	possibly damaging	Het
Zan	T	C	5: 137,398,906 (GRCm39)	T4153A	unknown	Het
Zfp239	G	T	6: 117,848,690 (GRCm39)	E143*	probably null	Het
Zfp292	T	C	4: 34,808,679 (GRCm39)	D1460G	probably benign	Het
Zfp647	C	T	15: 76,801,505 (GRCm39)	G90R	probably benign	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
R2965:Ddx43	UTSW	9	78,313,661 (GRCm39)	nonsense	probably null
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
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'- AGTGTCTAACAGTGAGTTCAAAACC -3'
(R):5'- CCAGGAGGCATCAGTTTGAAC -3'

Sequencing Primer
(F):5'- GTCTACCAAGTGAGTTCCAGGAC -3'
(R):5'- AGGCATCAGTTTGAACAATGC -3'

Posted On

2019-06-26