Mutagenetix > Incidental Mutation

Incidental Mutation 'R7976:Ddx17'

650934

Institutional Source

Beutler Lab

Gene Symbol

Ddx17

Ensembl Gene

ENSMUSG00000055065

Gene Name

DEAD box helicase 17

Synonyms

p72, LOC381024, 2610007K22Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 17, A430025E01Rik

MMRRC Submission

046019-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7976 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79411937-79430942 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 79420156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000055535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054014] [ENSMUST00000229431] [ENSMUST00000229877] [ENSMUST00000231053]

AlphaFold

Q501J6

Predicted Effect

probably null
Transcript: ENSMUST00000054014

SMART Domains

Protein: ENSMUSP00000055535
Gene: ENSMUSG00000055065

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
Blast:DEXDc	29	87	7e-18	BLAST
DEXDc	111	314	4.79e-65	SMART
HELICc	353	434	3.34e-32	SMART
low complexity region	477	486	N/A	INTRINSIC
low complexity region	550	576	N/A	INTRINSIC
low complexity region	578	611	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000229431

Predicted Effect

probably null
Transcript: ENSMUST00000229877

Predicted Effect

probably null
Transcript: ENSMUST00000231053

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the mouse homolog of human DEAD box polypeptide 17. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD). RNA helicases of the DEAD-box family are involved in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss1	A	C	12: 112,602,831 (GRCm39)	I341L	probably benign	Het
Aldh1b1	T	A	4: 45,803,092 (GRCm39)	M210K	possibly damaging	Het
Ankrd17	G	A	5: 90,431,451 (GRCm39)	Q778*	probably null	Het
Bmper	T	C	9: 23,318,106 (GRCm39)	V575A	probably damaging	Het
Brinp2	A	G	1: 158,073,913 (GRCm39)	V736A	probably benign	Het
Ccdc81	A	T	7: 89,515,723 (GRCm39)	L652*	probably null	Het
Cdt1	C	T	8: 123,298,585 (GRCm39)	R437W	probably damaging	Het
Ckb	A	C	12: 111,637,466 (GRCm39)	L165R	possibly damaging	Het
Col25a1	G	T	3: 130,290,075 (GRCm39)	G255V	probably damaging	Het
Dennd4a	G	T	9: 64,759,794 (GRCm39)	G300W	possibly damaging	Het
Dlg4	T	A	11: 69,930,008 (GRCm39)	I316N	probably damaging	Het
Dlgap2	C	T	8: 14,793,410 (GRCm39)	P467L	probably benign	Het
Dnah9	T	C	11: 65,732,227 (GRCm39)	I4226M	possibly damaging	Het
Drc1	G	A	5: 30,521,829 (GRCm39)	A734T	probably benign	Het
Entpd1	A	G	19: 40,600,865 (GRCm39)	M1V	probably null	Het
Exph5	T	G	9: 53,287,935 (GRCm39)	I1672S	possibly damaging	Het
Fam149b	T	A	14: 20,427,852 (GRCm39)	D379E	probably damaging	Het
Fgfr2	T	C	7: 129,787,074 (GRCm39)	T461A	probably damaging	Het
Frem1	A	G	4: 82,919,946 (GRCm39)	V469A	probably damaging	Het
Frem3	A	T	8: 81,338,231 (GRCm39)	K175*	probably null	Het
Fsd2	C	T	7: 81,209,629 (GRCm39)	G71E	probably benign	Het
Gcat	T	C	15: 78,919,188 (GRCm39)	I116T	probably damaging	Het
Gigyf2	G	A	1: 87,331,458 (GRCm39)	S202N	unknown	Het
Glra3	T	G	8: 56,565,911 (GRCm39)		probably null	Het
Golga4	C	T	9: 118,365,836 (GRCm39)	T296I	possibly damaging	Het
Herc1	C	T	9: 66,341,552 (GRCm39)	T1816I	possibly damaging	Het
Igfbpl1	C	A	4: 45,826,786 (GRCm39)	R3L	unknown	Het
Ighv15-2	A	T	12: 114,528,470 (GRCm39)	S28T	probably benign	Het
Kat2b	T	A	17: 53,955,835 (GRCm39)	M427K	probably benign	Het
Kdm4c	A	G	4: 74,295,906 (GRCm39)	T882A	probably damaging	Het
Kif1a	G	T	1: 92,967,496 (GRCm39)	F1138L	probably damaging	Het
Klhl20	A	T	1: 160,934,307 (GRCm39)	S237R	probably benign	Het
Lamc1	A	T	1: 153,123,014 (GRCm39)	N725K	probably damaging	Het
Lmtk3	A	G	7: 45,444,890 (GRCm39)	D1191G	unknown	Het
Ltbp1	C	A	17: 75,670,358 (GRCm39)	N1466K	possibly damaging	Het
Ly75	T	C	2: 60,195,432 (GRCm39)	E242G	probably damaging	Het
Lyrm1	T	C	7: 119,515,449 (GRCm39)	V113A	probably benign	Het
Mfsd13a	G	T	19: 46,360,446 (GRCm39)	A333S	probably benign	Het
Mllt10	T	C	2: 18,167,214 (GRCm39)	S380P	possibly damaging	Het
Mrc2	A	G	11: 105,238,829 (GRCm39)	K1295E	possibly damaging	Het
Muc5ac	A	T	7: 141,363,528 (GRCm39)	I2280F	unknown	Het
Neurod2	A	C	11: 98,218,023 (GRCm39)	F380L	probably damaging	Het
Ntrk3	G	A	7: 78,005,954 (GRCm39)	A469V	probably damaging	Het
Nup205	T	C	6: 35,175,888 (GRCm39)	F584L	probably damaging	Het
Oas1d	A	T	5: 121,057,210 (GRCm39)	Y272F	probably damaging	Het
Olfm3	T	C	3: 114,874,794 (GRCm39)	V30A	probably benign	Het
Or4c110	T	A	2: 88,831,973 (GRCm39)	I220F	probably damaging	Het
Or5b117	A	G	19: 13,431,563 (GRCm39)	I106T	probably benign	Het
Or8k22	A	G	2: 86,163,064 (GRCm39)	V212A	probably benign	Het
Pcdhga12	A	G	18: 37,901,427 (GRCm39)	Y753C	probably damaging	Het
Phox2b	A	G	5: 67,253,514 (GRCm39)	V294A	unknown	Het
Prdm2	A	T	4: 142,859,812 (GRCm39)	C1159*	probably null	Het
Ptpn12	G	T	5: 21,207,631 (GRCm39)	S275*	probably null	Het
Rigi	T	C	4: 40,209,894 (GRCm39)	M725V	probably damaging	Het
Rnf223	A	T	4: 156,216,776 (GRCm39)	E50D	probably damaging	Het
Rrp12	A	T	19: 41,879,548 (GRCm39)	Y169N	probably benign	Het
Sgip1	T	C	4: 102,757,736 (GRCm39)		probably null	Het
Shank2	T	C	7: 143,964,798 (GRCm39)	I802T	probably damaging	Het
Skint2	A	T	4: 112,481,329 (GRCm39)	N64I	probably damaging	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Tmem106c	G	C	15: 97,865,985 (GRCm39)	G192R	probably damaging	Het
Tmem72	T	C	6: 116,673,800 (GRCm39)	H106R	probably damaging	Het
Upf2	G	C	2: 6,030,926 (GRCm39)	V789L	unknown	Het
Vash1	A	G	12: 86,726,758 (GRCm39)		probably benign	Het
Vmn1r201	T	A	13: 22,658,875 (GRCm39)	Y30N	probably benign	Het
Xpr1	A	G	1: 155,166,035 (GRCm39)	F571L	possibly damaging	Het
Yif1a	T	C	19: 5,139,815 (GRCm39)	S87P	probably damaging	Het
Zer1	T	C	2: 29,997,520 (GRCm39)	Y462C	probably damaging	Het
Zfp597	G	A	16: 3,684,375 (GRCm39)	P127L	possibly damaging	Het
Zxdc	T	C	6: 90,375,749 (GRCm39)	S742P	probably benign	Het

Other mutations in Ddx17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02030:Ddx17	APN	15	79,414,577 (GRCm39)	missense	probably benign
IGL02904:Ddx17	APN	15	79,414,638 (GRCm39)	nonsense	probably null
PIT4469001:Ddx17	UTSW	15	79,428,014 (GRCm39)	missense	probably damaging	1.00
R0437:Ddx17	UTSW	15	79,421,672 (GRCm39)	missense	probably damaging	1.00
R0507:Ddx17	UTSW	15	79,421,758 (GRCm39)	splice site	probably benign
R1160:Ddx17	UTSW	15	79,425,288 (GRCm39)	missense	probably damaging	1.00
R1456:Ddx17	UTSW	15	79,414,577 (GRCm39)	missense	probably benign
R1572:Ddx17	UTSW	15	79,422,766 (GRCm39)	missense	probably damaging	0.99
R4510:Ddx17	UTSW	15	79,422,793 (GRCm39)	missense	probably damaging	1.00
R4511:Ddx17	UTSW	15	79,422,793 (GRCm39)	missense	probably damaging	1.00
R4576:Ddx17	UTSW	15	79,425,347 (GRCm39)	missense	probably benign
R6955:Ddx17	UTSW	15	79,414,668 (GRCm39)	missense	probably benign	0.01
R7152:Ddx17	UTSW	15	79,414,464 (GRCm39)	missense	possibly damaging	0.53
R7320:Ddx17	UTSW	15	79,416,105 (GRCm39)	missense	probably damaging	1.00
R7805:Ddx17	UTSW	15	79,421,723 (GRCm39)	missense	probably damaging	1.00
R7901:Ddx17	UTSW	15	79,422,789 (GRCm39)	missense	probably damaging	1.00
R8934:Ddx17	UTSW	15	79,420,217 (GRCm39)	missense	possibly damaging	0.58
Z1177:Ddx17	UTSW	15	79,414,373 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TAGGAGCCAGACGGAACTTTG -3'
(R):5'- AGCCAATGTTCTGAGAGGTGTG -3'

Sequencing Primer
(F):5'- GCCAGACGGAACTTTGAAAATAAAC -3'
(R):5'- GGCTGGGGAGGTCATTTTCC -3'

Posted On

2020-09-15