Mutagenetix > Incidental Mutation

Incidental Mutation 'R5711:Ddx51'

452211

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

043185-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5711 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110801317-110808362 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110802790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 214 (I214M)

Ref Sequence

ENSEMBL: ENSMUSP00000031478 (fasta)

Gene Model

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

AlphaFold

Q6P9R1

Predicted Effect

probably benign
Transcript: ENSMUST00000031478
AA Change: I214M

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031478
Gene: ENSMUSG00000029504
AA Change: I214M

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: ENSMUST00000123380

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: ENSMUST00000150100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199795

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145712

Predicted Effect

probably benign
Transcript: ENSMUST00000148773

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak6	A	T	13: 100,790,722 (GRCm39)	T18S	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgap19	A	G	19: 41,773,227 (GRCm39)	V275A	possibly damaging	Het
Cebpz	T	A	17: 79,242,040 (GRCm39)	Q538L	probably damaging	Het
Chgb	A	T	2: 132,634,618 (GRCm39)	I187F	probably benign	Het
Cldn1	C	A	16: 26,190,167 (GRCm39)	L70F	probably damaging	Het
Crybg2	A	T	4: 133,809,938 (GRCm39)	D1230V	probably damaging	Het
Csmd1	C	T	8: 16,003,703 (GRCm39)	C2617Y	probably damaging	Het
D7Ertd443e	T	A	7: 133,951,110 (GRCm39)	N188Y	probably benign	Het
Dlg5	A	G	14: 24,200,716 (GRCm39)	V1328A	probably damaging	Het
Dnah2	C	T	11: 69,326,216 (GRCm39)	C3639Y	probably damaging	Het
Dync1i2	C	T	2: 71,081,326 (GRCm39)	T511I	probably benign	Het
Fam220a	A	T	5: 143,549,212 (GRCm39)	E208V	probably damaging	Het
Gm4846	T	C	1: 166,311,594 (GRCm39)	S422G	probably benign	Het
Grin2c	C	T	11: 115,141,115 (GRCm39)	R1001Q	probably benign	Het
H2-T3	T	C	17: 36,498,301 (GRCm39)	E248G	probably damaging	Het
Idi2	T	C	13: 9,008,518 (GRCm39)	V92A	probably benign	Het
Iqcd	C	T	5: 120,740,571 (GRCm39)	Q301*	probably null	Het
Klhl26	T	C	8: 70,904,974 (GRCm39)	D278G	probably damaging	Het
Mok	G	T	12: 110,774,503 (GRCm39)	T228K	probably damaging	Het
Or1e22	A	G	11: 73,377,008 (GRCm39)	I214T	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pabpc1	T	C	15: 36,606,074 (GRCm39)	I101V	probably benign	Het
Ppargc1a	G	T	5: 51,631,562 (GRCm39)	Q356K	probably damaging	Het
Ptprt	T	A	2: 161,652,524 (GRCm39)	D608V	probably damaging	Het
Rxfp1	C	T	3: 79,586,054 (GRCm39)	C96Y	probably damaging	Het
Scn11a	A	C	9: 119,618,990 (GRCm39)	V784G	probably damaging	Het
Septin4	T	C	11: 87,458,723 (GRCm39)	S366P	probably benign	Het
Slc12a8	A	G	16: 33,410,679 (GRCm39)	Y226C	probably damaging	Het
Slc25a33	A	G	4: 149,846,914 (GRCm39)	V49A	possibly damaging	Het
Slc25a45	T	C	19: 5,934,451 (GRCm39)	S140P	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Spty2d1	G	T	7: 46,647,845 (GRCm39)	N361K	possibly damaging	Het
Stk4	G	A	2: 163,941,674 (GRCm39)	A297T	probably benign	Het
Thsd7b	T	A	1: 129,688,139 (GRCm39)	N683K	probably damaging	Het
Tln2	T	C	9: 67,299,829 (GRCm39)	E141G	probably benign	Het
Tmem125	A	T	4: 118,399,216 (GRCm39)	C72S	probably damaging	Het
Ttn	G	T	2: 76,572,437 (GRCm39)	T26152K	probably damaging	Het
Uhrf1	G	A	17: 56,627,259 (GRCm39)	G643D	possibly damaging	Het
Vmn2r50	C	T	7: 9,774,299 (GRCm39)	M532I	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
R2211:Ddx51	UTSW	5	110,803,634 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCGAGCTTCCATATTCTTGGG -3'
(R):5'- GTACAACCAGTGCACGGATG -3'

Sequencing Primer
(F):5'- GGTTCAGGTCCTTGACAATTTTCCAG -3'
(R):5'- ACTCGATGCAACAGGGC -3'

Posted On

2017-01-03