Mutagenetix > Incidental Mutation

Incidental Mutation 'R2211:Ddx51'

239364

Institutional Source

Beutler Lab

Gene Symbol

Ddx51

Ensembl Gene

ENSMUSG00000029504

Gene Name

DEAD box helicase 51

Synonyms

2310061O04Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 51

MMRRC Submission

040213-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2211 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

110801317-110808362 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110803634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 343 (D343E)

Ref Sequence

ENSEMBL: ENSMUSP00000031478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031478] [ENSMUST00000042147] [ENSMUST00000148773]

AlphaFold

Q6P9R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000031478
AA Change: D343E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031478
Gene: ENSMUSG00000029504
AA Change: D343E

Domain	Start	End	E-Value	Type
low complexity region	50	75	N/A	INTRINSIC
DEXDc	189	442	4.04e-40	SMART
HELICc	491	573	2.86e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042147

SMART Domains

Protein: ENSMUSP00000038263
Gene: ENSMUSG00000033294

Domain	Start	End	E-Value	Type
Pfam:CBF	305	453	2.7e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136629

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145712

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199795

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150100

Predicted Effect

probably benign
Transcript: ENSMUST00000148773

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	G	8: 25,118,171 (GRCm39)	S34P	probably damaging	Het
Adam23	T	A	1: 63,612,288 (GRCm39)		probably benign	Het
Adcy10	A	T	1: 165,345,781 (GRCm39)	I277F	probably damaging	Het
Arfgef3	A	T	10: 18,467,993 (GRCm39)	S1736T	possibly damaging	Het
Arhgap21	A	T	2: 20,886,451 (GRCm39)	M242K	possibly damaging	Het
Arhgef18	T	C	8: 3,437,680 (GRCm39)	S268P	possibly damaging	Het
Astn1	A	G	1: 158,484,876 (GRCm39)	R4G	probably benign	Het
AU041133	G	A	10: 81,986,755 (GRCm39)	C135Y	probably damaging	Het
Cdc42bpb	A	G	12: 111,268,288 (GRCm39)	V53A	probably benign	Het
Cdh23	T	C	10: 60,301,783 (GRCm39)	D428G	possibly damaging	Het
Cebpa	T	C	7: 34,819,891 (GRCm39)	S350P	probably damaging	Het
Cftr	A	G	6: 18,214,279 (GRCm39)	M152V	probably null	Het
Cpa4	A	G	6: 30,583,649 (GRCm39)	N255S	possibly damaging	Het
Dnah7a	T	C	1: 53,518,932 (GRCm39)	I2942V	probably benign	Het
Dnajc1	G	T	2: 18,397,286 (GRCm39)	A9E	probably damaging	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Edem3	A	G	1: 151,680,453 (GRCm39)	D526G	possibly damaging	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Etaa1	G	A	11: 17,902,686 (GRCm39)	Q84*	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam149a	G	A	8: 45,794,046 (GRCm39)	T674I	probably damaging	Het
Fam98a	A	G	17: 75,845,940 (GRCm39)		probably null	Het
Fat4	A	G	3: 38,945,676 (GRCm39)	N1523S	possibly damaging	Het
Fbxw10	A	G	11: 62,758,361 (GRCm39)	T529A	probably damaging	Het
Gzf1	C	T	2: 148,526,870 (GRCm39)	A447V	probably damaging	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Hic1	T	A	11: 75,060,210 (GRCm39)	R46W	possibly damaging	Het
Id4	T	A	13: 48,415,278 (GRCm39)	L102Q	probably damaging	Het
Il3ra	T	C	14: 14,355,029 (GRCm38)	C271R	probably benign	Het
Ints4	T	C	7: 97,158,957 (GRCm39)	I443T	possibly damaging	Het
Lmln	A	G	16: 32,930,148 (GRCm39)	E535G	probably benign	Het
Lrrtm4	A	G	6: 79,999,623 (GRCm39)	H345R	probably benign	Het
Ltbp3	T	C	19: 5,803,990 (GRCm39)	I834T	possibly damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Ms4a18	C	A	19: 10,974,669 (GRCm39)	V341L	probably benign	Het
Nbr1	T	C	11: 101,458,090 (GRCm39)		probably null	Het
Nf1	T	C	11: 79,334,890 (GRCm39)	M914T	probably benign	Het
Notch3	T	A	17: 32,366,952 (GRCm39)	H861L	probably benign	Het
Nup58	A	G	14: 60,470,089 (GRCm39)	F341L	probably damaging	Het
Ogfod2	C	A	5: 124,250,843 (GRCm39)		probably null	Het
Oit3	T	C	10: 59,263,892 (GRCm39)	D414G	probably damaging	Het
Or6c5c	A	T	10: 129,298,809 (GRCm39)	K88M	probably damaging	Het
Or6c6c	A	G	10: 129,541,320 (GRCm39)	H191R	probably benign	Het
Or8k32	T	C	2: 86,368,857 (GRCm39)	Y132C	probably damaging	Het
Or9q2	T	A	19: 13,772,733 (GRCm39)	M81L	probably benign	Het
Pals1	A	T	12: 78,844,022 (GRCm39)	K75N	possibly damaging	Het
Pcbp4	C	A	9: 106,337,933 (GRCm39)	H74Q	probably benign	Het
Pip5k1b	A	T	19: 24,356,214 (GRCm39)	D241E	probably damaging	Het
Plcb2	T	C	2: 118,554,015 (GRCm39)	D102G	probably benign	Het
Plekha5	G	A	6: 140,471,587 (GRCm39)	E4K	possibly damaging	Het
Ppargc1a	A	C	5: 51,631,601 (GRCm39)	S343A	possibly damaging	Het
Ppwd1	G	A	13: 104,343,650 (GRCm39)	S585L	probably benign	Het
Rarg	T	C	15: 102,147,959 (GRCm39)	N284S	probably benign	Het
Rnpepl1	C	T	1: 92,844,102 (GRCm39)	L278F	probably damaging	Het
Rp1	A	C	1: 4,418,362 (GRCm39)	S917A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGAGGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsph3b	T	C	17: 7,209,139 (GRCm39)	S189G	probably benign	Het
Sec31b	A	T	19: 44,511,589 (GRCm39)	L604Q	probably damaging	Het
Sema6b	T	A	17: 56,431,741 (GRCm39)	I641F	probably benign	Het
Slc35f5	A	T	1: 125,507,001 (GRCm39)	I309F	possibly damaging	Het
Smarca4	A	G	9: 21,597,325 (GRCm39)	E1360G	probably damaging	Het
Spata31d1c	T	C	13: 65,183,753 (GRCm39)	S432P	probably benign	Het
Spsb3	T	C	17: 25,109,911 (GRCm39)		probably null	Het
Sptbn4	T	C	7: 27,067,034 (GRCm39)	D1960G	probably damaging	Het
Srgap1	A	G	10: 121,689,645 (GRCm39)	V345A	possibly damaging	Het
Tiam2	C	A	17: 3,465,193 (GRCm39)	C307*	probably null	Het
Trim43b	T	A	9: 88,967,302 (GRCm39)	T444S	possibly damaging	Het
Trmt13	A	G	3: 116,388,403 (GRCm39)	I11T	probably benign	Het
Ylpm1	A	T	12: 85,091,152 (GRCm39)	R1073*	probably null	Het
Zfp524	T	C	7: 5,020,918 (GRCm39)	S149P	probably damaging	Het
Zfp777	T	C	6: 48,020,819 (GRCm39)	I312V	possibly damaging	Het

Other mutations in Ddx51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Ddx51	APN	5	110,803,729 (GRCm39)	missense	probably benign	0.00
IGL01688:Ddx51	APN	5	110,803,513 (GRCm39)	missense	probably benign	0.37
IGL02993:Ddx51	APN	5	110,803,487 (GRCm39)	missense	possibly damaging	0.93
IGL03149:Ddx51	APN	5	110,801,600 (GRCm39)	missense	probably benign
R1659:Ddx51	UTSW	5	110,802,986 (GRCm39)	missense	probably damaging	0.99
R2036:Ddx51	UTSW	5	110,804,491 (GRCm39)	missense	probably benign	0.01
R4705:Ddx51	UTSW	5	110,803,174 (GRCm39)	missense	probably damaging	1.00
R5239:Ddx51	UTSW	5	110,801,514 (GRCm39)	missense	probably benign
R5255:Ddx51	UTSW	5	110,803,908 (GRCm39)	missense	possibly damaging	0.67
R5711:Ddx51	UTSW	5	110,802,790 (GRCm39)	missense	probably benign	0.03
R5966:Ddx51	UTSW	5	110,804,717 (GRCm39)	missense	probably damaging	1.00
R6970:Ddx51	UTSW	5	110,804,728 (GRCm39)	missense	probably damaging	1.00
R7374:Ddx51	UTSW	5	110,804,998 (GRCm39)	missense	probably damaging	1.00
R7664:Ddx51	UTSW	5	110,804,785 (GRCm39)	critical splice donor site	probably null
Z1176:Ddx51	UTSW	5	110,802,424 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAGATGGTTTCCGTTGCCTG -3'
(R):5'- TGTTATAGACAGGGCCAGCCAG -3'

Sequencing Primer
(F):5'- TTGCCTGGCCGACATTG -3'
(R):5'- CTGAGAAAGAGAGCAGCACCTG -3'

Posted On

2014-10-15