Mutagenetix > Incidental Mutation

Incidental Mutation 'R7664:Ddx51'

591775

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

045704-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7664 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110801317-110808362 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 110804785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031478 (fasta)

Gene Model

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

AlphaFold

Q6P9R1

Predicted Effect

probably null
Transcript: ENSMUST00000031478

SMART Domains

Protein: ENSMUSP00000031478
Gene: ENSMUSG00000029504

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

probably benign
Transcript: ENSMUST00000148773

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	T	11: 84,136,175 (GRCm39)	T510I	probably damaging	Het
Akap12	G	T	10: 4,303,748 (GRCm39)	W291L	probably damaging	Het
Akip1	A	T	7: 109,308,187 (GRCm39)	I152F	probably benign	Het
Alpk2	T	A	18: 65,440,073 (GRCm39)	Y440F	probably benign	Het
Aox3	A	G	1: 58,158,698 (GRCm39)	T90A	probably damaging	Het
Arhgef18	A	T	8: 3,436,390 (GRCm39)	E228V	probably damaging	Het
B4galnt4	A	G	7: 140,647,626 (GRCm39)	K405E	probably damaging	Het
BC034090	T	C	1: 155,117,377 (GRCm39)	E247G	probably damaging	Het
Camkk2	A	T	5: 122,894,645 (GRCm39)	F216I	unknown	Het
Carm1	A	C	9: 21,498,286 (GRCm39)	K430T	probably benign	Het
Ccdc13	A	G	9: 121,643,279 (GRCm39)	V374A	probably benign	Het
Cdh26	T	A	2: 178,111,835 (GRCm39)	M465K	probably benign	Het
Ceacam10	A	T	7: 24,477,757 (GRCm39)	M91L	probably benign	Het
Chrnb1	T	C	11: 69,677,850 (GRCm39)	T301A	possibly damaging	Het
Clec4a3	A	G	6: 122,943,381 (GRCm39)	D101G	probably benign	Het
Cmss1	G	A	16: 57,138,310 (GRCm39)	P59S	probably benign	Het
Crhr1	T	A	11: 104,059,968 (GRCm39)	F138L	probably benign	Het
Cxcl5	A	T	5: 90,907,890 (GRCm39)	I107F	probably damaging	Het
Cxcr1	A	G	1: 74,231,834 (GRCm39)	S63P	probably damaging	Het
Cxcr5	A	G	9: 44,424,607 (GRCm39)	L350P	probably benign	Het
D5Ertd579e	A	T	5: 36,771,961 (GRCm39)	H811Q	probably benign	Het
Ddx46	T	G	13: 55,806,864 (GRCm39)	I499S	probably damaging	Het
Dnaja1	C	T	4: 40,724,090 (GRCm39)	P84S	probably benign	Het
Dnajc27	A	G	12: 4,153,132 (GRCm39)	K203E	possibly damaging	Het
Fam107b	T	A	2: 3,571,747 (GRCm39)	C24S	probably damaging	Het
Fancg	T	C	4: 43,010,066 (GRCm39)	K11R	probably benign	Het
Fnip1	T	C	11: 54,356,951 (GRCm39)	L44P	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Heca	A	T	10: 17,778,118 (GRCm39)	L493Q	probably damaging	Het
Hrh2	C	T	13: 54,368,875 (GRCm39)	P284S	probably damaging	Het
Ifnar1	C	G	16: 91,292,082 (GRCm39)	A141G	probably damaging	Het
Igkv6-32	T	A	6: 70,051,282 (GRCm39)	T25S	probably damaging	Het
Inppl1	T	C	7: 101,479,304 (GRCm39)	H525R	probably damaging	Het
Itga2b	A	G	11: 102,351,666 (GRCm39)	L553P	probably damaging	Het
Itgbl1	A	G	14: 124,083,962 (GRCm39)	Y280C	probably damaging	Het
Kap	T	C	6: 133,828,920 (GRCm39)	I54V	probably benign	Het
Kcnh4	G	T	11: 100,641,148 (GRCm39)	L434M	probably damaging	Het
Klhl14	T	C	18: 21,687,706 (GRCm39)	D572G	probably damaging	Het
Klhl41	T	A	2: 69,501,061 (GRCm39)	L174Q	probably damaging	Het
Lrp2	T	G	2: 69,337,076 (GRCm39)	H1232P	probably damaging	Het
Lyar	A	G	5: 38,388,161 (GRCm39)	E229G	probably benign	Het
Mark4	A	T	7: 19,177,151 (GRCm39)	L226Q	probably damaging	Het
Mcm8	A	G	2: 132,685,453 (GRCm39)	K823R	probably damaging	Het
Mfsd6	A	T	1: 52,748,212 (GRCm39)	S218T	probably benign	Het
Mlip	A	T	9: 77,045,828 (GRCm39)	I884N	possibly damaging	Het
Mmrn1	A	G	6: 60,953,689 (GRCm39)	T657A	probably benign	Het
Morc2b	A	G	17: 33,355,376 (GRCm39)	Y799H	probably benign	Het
Muc16	A	T	9: 18,519,018 (GRCm39)	I6304N	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Naaladl2	T	C	3: 24,112,303 (GRCm39)	Y593C	probably damaging	Het
Ncor1	T	C	11: 62,289,154 (GRCm39)	E341G	probably damaging	Het
Nrg1	G	T	8: 32,499,169 (GRCm39)		probably null	Het
Nudt3	A	G	17: 27,842,149 (GRCm39)	L4P	probably benign	Het
Odf2l	T	A	3: 144,854,345 (GRCm39)	H493Q	probably benign	Het
Ost4	A	C	5: 31,065,007 (GRCm39)		probably null	Het
Patj	A	T	4: 98,385,187 (GRCm39)	Q840L	possibly damaging	Het
Pcdh20	T	A	14: 88,706,803 (GRCm39)	T166S	probably benign	Het
Pcdhb4	T	A	18: 37,442,293 (GRCm39)	D534E	probably damaging	Het
Pik3ap1	T	C	19: 41,310,069 (GRCm39)	D417G	possibly damaging	Het
Ppwd1	A	T	13: 104,356,798 (GRCm39)	V239E	probably damaging	Het
Prdm9	T	A	17: 15,775,833 (GRCm39)	Y206F	probably damaging	Het
Ranbp6	A	G	19: 29,789,476 (GRCm39)	V292A	possibly damaging	Het
Rgs21	T	A	1: 144,416,987 (GRCm39)	M22L	probably benign	Het
Rnf17	A	T	14: 56,676,335 (GRCm39)	I399F	probably damaging	Het
Rph3a	T	A	5: 121,099,339 (GRCm39)	Q184L	probably benign	Het
Scrn3	T	C	2: 73,149,714 (GRCm39)	Y137H	possibly damaging	Het
Sec14l4	C	A	11: 3,994,178 (GRCm39)	Y342*	probably null	Het
Serpinb11	G	A	1: 107,307,718 (GRCm39)	G383D	probably damaging	Het
Sf3b1	A	G	1: 55,026,626 (GRCm39)	V1261A	probably damaging	Het
Sh3tc2	C	T	18: 62,148,042 (GRCm39)	Q1251*	probably null	Het
Skor1	A	T	9: 63,049,045 (GRCm39)	D845E	probably benign	Het
Slc39a7	A	G	17: 34,248,551 (GRCm39)	L364P	probably damaging	Het
Snrpn	T	C	7: 59,637,239 (GRCm39)	I26V	probably benign	Het
Snx5	A	T	2: 144,099,924 (GRCm39)		probably null	Het
Spag9	T	C	11: 93,992,986 (GRCm39)		probably null	Het
Srrm2	T	C	17: 24,039,955 (GRCm39)	S2200P	probably damaging	Het
Stx11	T	C	10: 12,817,070 (GRCm39)	E218G	probably damaging	Het
Tmem151b	T	C	17: 45,856,861 (GRCm39)	N193S	probably damaging	Het
Tmem87b	A	T	2: 128,690,974 (GRCm39)	D525V	possibly damaging	Het
Ubtfl1	A	T	9: 18,320,782 (GRCm39)	R103S	possibly damaging	Het
Vmn1r196	T	A	13: 22,477,932 (GRCm39)	D190E	probably damaging	Het
Vmn2r67	T	A	7: 84,805,019 (GRCm39)	D31V	probably benign	Het
Zbtb22	T	A	17: 34,137,553 (GRCm39)	M566K	probably benign	Het
Zfp568	A	T	7: 29,721,715 (GRCm39)	H220L	probably benign	Het
Zfp974	A	T	7: 27,610,137 (GRCm39)	S529R	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
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
Z1176:Ddx51	UTSW	5	110,802,424 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGACTTGGAACTAACCCTG -3'
(R):5'- GTGAATGCCTGTCCAGTTTTCC -3'

Sequencing Primer
(F):5'- TTGGAACTAACCCTGGCGGAG -3'
(R):5'- AGTTTTCCCGGCTCGAGCTG -3'

Posted On

2019-11-12