Mutagenetix > Incidental Mutation

Incidental Mutation 'R7320:Ddx17'

568168

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

045370-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79411937-79430942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79416105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 407 (D407E)

Ref Sequence

ENSEMBL: ENSMUSP00000055535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010974] [ENSMUST00000054014] [ENSMUST00000229431] [ENSMUST00000229877] [ENSMUST00000231053]

AlphaFold

Q501J6

Predicted Effect

probably benign
Transcript: ENSMUST00000010974

SMART Domains

Protein: ENSMUSP00000010974
Gene: ENSMUSG00000010830

Domain	Start	End	E-Value	Type
Pfam:ER_lumen_recept	28	169	3.3e-54	PFAM
transmembrane domain	179	200	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000054014
AA Change: D407E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055535
Gene: ENSMUSG00000055065
AA Change: D407E

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

probably benign
Transcript: ENSMUST00000229431

Predicted Effect

probably damaging
Transcript: ENSMUST00000229877
AA Change: D407E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000231053

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,471 (GRCm39)	I458T	probably benign	Het
Adam29	A	G	8: 56,325,749 (GRCm39)	I235T	possibly damaging	Het
Afap1	G	A	5: 36,105,567 (GRCm39)	V174I	probably damaging	Het
Ak8	A	T	2: 28,703,004 (GRCm39)	D456V	probably damaging	Het
Alb	T	C	5: 90,612,846 (GRCm39)		probably null	Het
Alox12	C	T	11: 70,145,298 (GRCm39)	A92T	probably benign	Het
Arhgap23	T	C	11: 97,342,371 (GRCm39)	S218P	probably benign	Het
Blm	G	A	7: 80,105,102 (GRCm39)	Q1389*	probably null	Het
C1ql4	A	T	15: 98,985,605 (GRCm39)	V2E	unknown	Het
Casp12	A	G	9: 5,348,897 (GRCm39)		probably null	Het
Ccdc73	A	T	2: 104,829,521 (GRCm39)	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 89,873,242 (GRCm39)	G371D	probably damaging	Het
Cfap65	A	G	1: 74,965,763 (GRCm39)	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,012 (GRCm39)	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,294,827 (GRCm39)	H311Q	probably benign	Het
Cldn13	T	G	5: 134,943,874 (GRCm39)	I104L	probably benign	Het
Cul9	A	G	17: 46,821,835 (GRCm39)	V1880A	possibly damaging	Het
Ddx28	G	A	8: 106,737,957 (GRCm39)	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,616 (GRCm39)	N973Y	probably null	Het
Dnai4	A	T	4: 102,907,384 (GRCm39)	I634N	possibly damaging	Het
Dock10	A	G	1: 80,527,421 (GRCm39)		probably null	Het
Dock3	T	C	9: 106,772,723 (GRCm39)	D510G	probably benign	Het
Dst	T	A	1: 34,230,175 (GRCm39)	D2589E	probably benign	Het
E2f7	T	C	10: 110,599,991 (GRCm39)	Y249H	not run	Het
Eef2kmt	T	C	16: 5,068,373 (GRCm39)	Y69C	possibly damaging	Het
Elapor1	T	A	3: 108,371,619 (GRCm39)	K650*	probably null	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exog	G	T	9: 119,291,544 (GRCm39)	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,371,896 (GRCm39)	V98M	probably benign	Het
Fras1	C	T	5: 96,857,745 (GRCm39)	T2013I	probably benign	Het
Gart	G	T	16: 91,418,569 (GRCm39)	A970E	probably benign	Het
Gga2	T	A	7: 121,601,326 (GRCm39)	H259L	probably benign	Het
Glis3	C	A	19: 28,508,998 (GRCm39)	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923 (GRCm38)	N53I	probably damaging	Het
Golgb1	C	A	16: 36,736,313 (GRCm39)	C1894*	probably null	Het
Ifi203	T	C	1: 173,756,733 (GRCm39)	N350S	unknown	Het
Isy1	T	A	6: 87,810,688 (GRCm39)	R55S	unknown	Het
Itsn1	A	T	16: 91,636,587 (GRCm39)	D678V	unknown	Het
Lhcgr	T	A	17: 89,049,506 (GRCm39)	R673S	probably benign	Het
Lnx2	C	A	5: 146,956,943 (GRCm39)	R601L	possibly damaging	Het
Map4	A	G	9: 109,910,585 (GRCm39)	T1093A	probably benign	Het
Minar1	A	G	9: 89,483,679 (GRCm39)	S573P	probably benign	Het
Mink1	A	G	11: 70,489,899 (GRCm39)	K92E	probably benign	Het
Moxd1	A	G	10: 24,177,363 (GRCm39)	I560V	probably benign	Het
Mrc2	C	A	11: 105,220,061 (GRCm39)	D327E	possibly damaging	Het
Notch2	A	G	3: 98,038,643 (GRCm39)	E1262G	possibly damaging	Het
Or2g1	T	A	17: 38,107,248 (GRCm39)	N304K	probably benign	Het
Or4k48	A	G	2: 111,476,297 (GRCm39)	L15S	probably benign	Het
Or52d3	C	A	7: 104,229,645 (GRCm39)	S264*	probably null	Het
Or5an1	G	A	19: 12,261,180 (GRCm39)	G256D	possibly damaging	Het
Or5b120	T	A	19: 13,480,544 (GRCm39)	M279K	possibly damaging	Het
Or5j3	GTACTTTTT	GT	2: 86,128,338 (GRCm39)		probably null	Het
Or5m13	A	T	2: 85,748,718 (GRCm39)	I150F	probably benign	Het
Or6c5b	A	T	10: 129,245,654 (GRCm39)	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,381,782 (GRCm39)	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,522,953 (GRCm39)	Y104F	probably benign	Het
Plscr2	T	C	9: 92,173,193 (GRCm39)		probably null	Het
Ppfibp1	C	T	6: 146,879,551 (GRCm39)	A25V	probably damaging	Het
Ptgfr	C	T	3: 151,541,034 (GRCm39)	G158D	probably benign	Het
Ptgs2	T	C	1: 149,978,446 (GRCm39)	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,564,956 (GRCm39)	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,368,673 (GRCm39)	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,085,122 (GRCm39)		probably null	Het
Sema3b	T	A	9: 107,478,141 (GRCm39)	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,073,216 (GRCm39)	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,055,887 (GRCm39)	R5C	possibly damaging	Het
Slmap	A	G	14: 26,181,227 (GRCm39)	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,361,894 (GRCm39)	N181S	possibly damaging	Het
Sqor	A	G	2: 122,641,730 (GRCm39)	T235A	probably benign	Het
St13	A	G	15: 81,273,854 (GRCm39)	L80P	probably damaging	Het
St3gal6	A	G	16: 58,314,074 (GRCm39)	Y20H	probably benign	Het
Sun1	T	G	5: 139,234,239 (GRCm39)	Y899D	probably damaging	Het
Synm	C	T	7: 67,385,128 (GRCm39)	E845K	possibly damaging	Het
Tg	A	T	15: 66,566,633 (GRCm39)	D1227V	possibly damaging	Het
Thbs1	A	G	2: 117,945,438 (GRCm39)	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,414,357 (GRCm39)	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,265,505 (GRCm39)	D856G	probably benign	Het
Vil1	G	A	1: 74,457,603 (GRCm39)	A79T	probably damaging	Het
Vmn1r119	T	A	7: 20,746,271 (GRCm39)	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,816,316 (GRCm39)	M69K	probably benign	Het
Ywhaq	A	G	12: 21,444,982 (GRCm39)	L221P	probably damaging	Het
Zfp142	G	A	1: 74,609,167 (GRCm39)	Q1543*	probably null	Het
Zfp384	T	A	6: 125,001,793 (GRCm39)	M146K	possibly damaging	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
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
R7976:Ddx17	UTSW	15	79,420,156 (GRCm39)	critical splice donor site	probably null
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'- CCACAAGCTGCATCAATTTTGG -3'
(R):5'- TGAGTGGCACTGATCCTCTTTTAC -3'

Sequencing Primer
(F):5'- CAATTTTGGATTGATGGCTTGATTG -3'
(R):5'- ATCCTCTTTTACTCTGTTGGGATGAG -3'

Posted On

2019-06-26