Mutagenetix > Incidental Mutations

Incidental Mutation 'R3922:Ddx59'

306964

Institutional Source

Beutler Lab

Gene Symbol

Ddx59

Ensembl Gene

ENSMUSG00000026404

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 59

Synonyms

MMRRC Submission

040819-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136415271-136440158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136416744 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 51 (V51D)

Ref Sequence

ENSEMBL: ENSMUSP00000027655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027655]

Predicted Effect

probably benign
Transcript: ENSMUST00000027655
AA Change: V51D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027655
Gene: ENSMUSG00000026404
AA Change: V51D

Domain	Start	End	E-Value	Type
Pfam:zf-HIT	104	133	5.5e-11	PFAM
DEXDc	222	420	5.43e-55	SMART
HELICc	458	540	1.79e-23	SMART
low complexity region	583	596	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194227

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
4921504E06Rik	T	A	2: 19,480,560	E432V	probably benign	Het
Ahnak	G	A	19: 9,006,328	D1659N	probably benign	Het
Arfgap2	C	T	2: 91,274,805	R405W	probably damaging	Het
Arhgef28	A	G	13: 97,993,944	L462P	possibly damaging	Het
Arid1b	T	C	17: 5,343,041	V2282A	probably damaging	Het
Cdkl1	G	T	12: 69,756,599	R168S	probably damaging	Het
Cep70	T	A	9: 99,275,579	*117R	probably null	Het
Cnnm1	A	G	19: 43,440,445	M1V	probably null	Het
Cntrl	A	G	2: 35,129,739	E526G	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Dtd2	G	C	12: 52,004,951		probably null	Het
Eea1	T	A	10: 96,036,633	N1068K	probably benign	Het
Egfr	T	A	11: 16,881,495	C555S	probably damaging	Het
Esd	A	T	14: 74,743,227	Q130H	probably benign	Het
Gm38100	T	C	1: 175,921,286	V306A	probably benign	Het
Gpr89	A	T	3: 96,890,899	I147N	probably damaging	Het
H2-M10.1	T	A	17: 36,325,685	I76L	probably benign	Het
Lgi4	A	T	7: 31,067,448	D300V	probably benign	Het
Lrp1b	C	A	2: 40,677,581	V276L	unknown	Het
Lrp2	T	C	2: 69,506,376	K1351E	probably benign	Het
Mroh8	T	C	2: 157,222,811	I782V	probably benign	Het
Msrb1	T	C	17: 24,740,083	S70P	probably damaging	Het
Nek10	T	C	14: 14,861,585	M547T	possibly damaging	Het
Olfr1501	T	C	19: 13,838,766	T136A	probably damaging	Het
Olfr615	T	C	7: 103,560,705	V76A	probably benign	Het
Olfr769	C	A	10: 129,111,613	V271F	possibly damaging	Het
P4htm	T	C	9: 108,582,895	N227D	probably benign	Het
Plekhm2	T	C	4: 141,629,532	T787A	probably benign	Het
Pramel5	A	G	4: 144,273,052	L155P	probably damaging	Het
Sbno1	T	C	5: 124,381,930	Y1122C	probably damaging	Het
Scn9a	T	A	2: 66,526,873	D1028V	possibly damaging	Het
Sft2d1	G	T	17: 8,318,882	L34F	possibly damaging	Het
Slc19a3	A	T	1: 83,022,957	F113Y	probably damaging	Het
Slc27a3	G	T	3: 90,387,085	H460N	possibly damaging	Het
Slc35g2	A	T	9: 100,552,727	I297N	probably benign	Het
Ssh1	T	G	5: 113,942,708	Q865P	possibly damaging	Het
Trp63	A	G	16: 25,889,009	D583G	probably damaging	Het
Usp28	T	C	9: 49,030,923		probably null	Het
Wdr43	A	G	17: 71,638,301		probably benign	Het
Zfhx4	A	G	3: 5,400,647	Y1955C	probably damaging	Het
Zfp108	G	A	7: 24,261,348	G455R	probably damaging	Het
Zfp353-ps	A	T	8: 42,083,012		noncoding transcript	Het

Other mutations in Ddx59

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02148:Ddx59	APN	1	136433827	missense	probably damaging	0.99
IGL02191:Ddx59	APN	1	136417158	missense	probably damaging	1.00
IGL02525:Ddx59	APN	1	136417005	missense	probably benign	0.03
IGL02712:Ddx59	APN	1	136439781	missense	probably benign	0.14
R0219:Ddx59	UTSW	1	136432309	splice site	probably benign
R0898:Ddx59	UTSW	1	136416941	missense	probably damaging	1.00
R1728:Ddx59	UTSW	1	136417053	missense	probably benign
R1729:Ddx59	UTSW	1	136417053	missense	probably benign
R1730:Ddx59	UTSW	1	136417053	missense	probably benign
R1739:Ddx59	UTSW	1	136417053	missense	probably benign
R1762:Ddx59	UTSW	1	136417053	missense	probably benign
R1783:Ddx59	UTSW	1	136417053	missense	probably benign
R1784:Ddx59	UTSW	1	136417053	missense	probably benign
R1785:Ddx59	UTSW	1	136417053	missense	probably benign
R1817:Ddx59	UTSW	1	136432507	missense	probably damaging	0.98
R1818:Ddx59	UTSW	1	136432507	missense	probably damaging	0.98
R1819:Ddx59	UTSW	1	136432507	missense	probably damaging	0.98
R2091:Ddx59	UTSW	1	136416709	missense	probably benign
R3923:Ddx59	UTSW	1	136416744	missense	probably benign
R3926:Ddx59	UTSW	1	136416744	missense	probably benign
R3945:Ddx59	UTSW	1	136434618	missense	probably damaging	0.99
R4182:Ddx59	UTSW	1	136439861	missense	probably benign	0.01
R4589:Ddx59	UTSW	1	136439742	splice site	probably null
R4636:Ddx59	UTSW	1	136432563	missense	probably damaging	0.96
R4721:Ddx59	UTSW	1	136417106	missense	probably benign	0.00
R5276:Ddx59	UTSW	1	136419448	missense	probably damaging	1.00
R6318:Ddx59	UTSW	1	136416872	missense	probably damaging	0.99
R7602:Ddx59	UTSW	1	136433821	missense	probably benign	0.01
Z1088:Ddx59	UTSW	1	136432451	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TCATGGTGCAATTTCCTCAACAG -3'
(R):5'- CCAAGCTACACACGTCTTCG -3'

Sequencing Primer
(F):5'- CAGAATGTTGAAGAATGTTTGTTCC -3'
(R):5'- TGTCACAGATATACTCTCCATAACG -3'

Posted On

2015-04-17