Mutagenetix > Incidental Mutations

Incidental Mutation 'R1160:Ddx17'

100355

Institutional Source

Beutler Lab

Gene Symbol

Ddx17

Ensembl Gene

ENSMUSG00000055065

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 17

Synonyms

A430025E01Rik, 2610007K22Rik, p72, LOC381024

MMRRC Submission

039233-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79527736-79546741 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79541087 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 128 (S128C)

Ref Sequence

ENSEMBL: ENSMUSP00000155365 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000054014
AA Change: S128C

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

SMART Domains

Protein: ENSMUSP00000055535
Gene: ENSMUSG00000055065
AA Change: S128C

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 damaging
Transcript: ENSMUST00000229431
AA Change: S128C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229877
AA Change: S128C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231053
AA Change: S128C

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

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.7%
20x: 81.6%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	C	A	3: 88,708,862	P452Q	probably damaging	Het
Agap1	G	T	1: 89,843,154	K622N	probably damaging	Het
Ap3b2	A	T	7: 81,466,169		probably null	Het
Arl5b	T	C	2: 15,069,837	V43A	probably benign	Het
Astn1	T	C	1: 158,600,365	V702A	possibly damaging	Het
Bach1	T	C	16: 87,715,434	V15A	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Ccar2	C	T	14: 70,139,769	V774M	probably benign	Het
Dcaf5	T	C	12: 80,340,215	D379G	possibly damaging	Het
Dcpp1	T	A	17: 23,881,431	I45K	possibly damaging	Het
Eml3	A	G	19: 8,933,250	N192S	probably benign	Het
Epha3	T	G	16: 63,773,068	D219A	probably damaging	Het
Fhod3	C	T	18: 24,985,236	A210V	probably damaging	Het
Klhl5	A	G	5: 65,141,340	N154S	probably benign	Het
Lrif1	A	G	3: 106,732,717	N373D	possibly damaging	Het
Map3k20	A	G	2: 72,441,520	N664S	probably benign	Het
Olfr625-ps1	A	G	7: 103,682,861	N38D	possibly damaging	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pglyrp4	T	A	3: 90,728,831		probably null	Het
Pole	A	G	5: 110,295,253	E349G	possibly damaging	Het
Ptprj	A	G	2: 90,444,524	Y1165H	probably damaging	Het
Rasd1	T	A	11: 59,964,721	I29F	possibly damaging	Het
Scamp3	T	C	3: 89,181,198	F237S	probably damaging	Het
Sccpdh	T	G	1: 179,684,210	D82E	probably benign	Het
Slc19a3	A	C	1: 83,022,692	H201Q	possibly damaging	Het
Slc5a4a	G	A	10: 76,178,161	A401T	possibly damaging	Het
Snupn	T	G	9: 56,957,105	C29W	probably benign	Het
Sorbs2	A	G	8: 45,770,576	Y222C	probably damaging	Het
Sox17	A	T	1: 4,491,852	V310E	probably damaging	Het
Srgap1	T	A	10: 121,855,477	Y284F	probably benign	Het
Srpk1	C	A	17: 28,599,774	V363F	probably benign	Het
Syt13	T	A	2: 92,943,042		probably null	Het
Taf2	A	G	15: 55,071,397	V45A	probably benign	Het
Tal1	A	T	4: 115,068,616	D294V	probably damaging	Het
Tbl2	A	G	5: 135,159,392	T347A	probably benign	Het
Tet3	A	G	6: 83,404,452	S110P	probably benign	Het
Tmem132a	A	G	19: 10,858,574	V864A	probably damaging	Het
Trak1	T	C	9: 121,392,007	I80T	probably benign	Het
Trappc6b	G	A	12: 59,050,278	T86I	probably damaging	Het
Usf3	T	A	16: 44,218,547	I1130N	probably damaging	Het
Xirp2	T	C	2: 67,509,887	V824A	possibly damaging	Het
Zfp810	T	C	9: 22,278,532	Y360C	possibly damaging	Het
Zmiz1	T	A	14: 25,654,512	V685E	probably damaging	Het
Zp2	A	T	7: 120,136,045	D368E	probably damaging	Het

Other mutations in Ddx17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02030:Ddx17	APN	15	79530376	missense	probably benign
IGL02904:Ddx17	APN	15	79530437	nonsense	probably null
PIT4469001:Ddx17	UTSW	15	79543813	missense	probably damaging	1.00
R0437:Ddx17	UTSW	15	79537471	missense	probably damaging	1.00
R0507:Ddx17	UTSW	15	79537557	splice site	probably benign
R1456:Ddx17	UTSW	15	79530376	missense	probably benign
R1572:Ddx17	UTSW	15	79538565	missense	probably damaging	0.99
R4510:Ddx17	UTSW	15	79538592	missense	probably damaging	1.00
R4511:Ddx17	UTSW	15	79538592	missense	probably damaging	1.00
R4576:Ddx17	UTSW	15	79541146	missense	probably benign
R6955:Ddx17	UTSW	15	79530467	missense	probably benign	0.01
R7152:Ddx17	UTSW	15	79530263	missense	possibly damaging	0.53
R7320:Ddx17	UTSW	15	79531904	missense	probably damaging	1.00
R7805:Ddx17	UTSW	15	79537522	missense	probably damaging	1.00
R7901:Ddx17	UTSW	15	79538588	missense	probably damaging	1.00
R7976:Ddx17	UTSW	15	79535955	critical splice donor site	probably null
Z1177:Ddx17	UTSW	15	79530172	missense	probably benign	0.33

Predicted Primers

Posted On

2014-01-15