Mutagenetix > Incidental Mutation

Incidental Mutation 'R8934:Ddx17'

680538

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

068777-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8934 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79411937-79430942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79420217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 384 (E384G)

Ref Sequence

ENSEMBL: ENSMUSP00000155307 (fasta)

Gene Model

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

AlphaFold

Q501J6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054014
AA Change: E384G

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000055535
Gene: ENSMUSG00000055065
AA Change: E384G

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
AA Change: E384G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229877
AA Change: E384G

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000231053
AA Change: E384G

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	A	14: 32,382,614 (GRCm39)	S1117L	possibly damaging	Het
Abce1	A	G	8: 80,429,661 (GRCm39)	Y87H	probably damaging	Het
Adad2	G	A	8: 120,341,535 (GRCm39)		probably benign	Het
Adamts12	A	G	15: 11,300,015 (GRCm39)	T901A	probably damaging	Het
Adamts18	T	A	8: 114,463,510 (GRCm39)	I779F	possibly damaging	Het
Bod1l	T	C	5: 41,976,944 (GRCm39)	T1457A	probably benign	Het
Brat1	T	C	5: 140,696,004 (GRCm39)	V125A	probably benign	Het
C4b	G	A	17: 34,951,958 (GRCm39)	R1296C	possibly damaging	Het
C5ar1	A	T	7: 15,982,402 (GRCm39)	L206Q	probably damaging	Het
Cfap126	A	G	1: 170,953,690 (GRCm39)	T87A	probably benign	Het
Cnot1	A	T	8: 96,491,695 (GRCm39)	N376K	probably benign	Het
Cyp3a44	A	T	5: 145,731,786 (GRCm39)	I120K	possibly damaging	Het
Dipk1b	G	A	2: 26,524,866 (GRCm39)	V89M	possibly damaging	Het
Dnah14	T	C	1: 181,450,288 (GRCm39)	S634P	possibly damaging	Het
Dusp16	A	T	6: 134,718,639 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,913,738 (GRCm39)	R185H	probably damaging	Het
Epdr1	T	C	13: 19,777,350 (GRCm39)	E216G	possibly damaging	Het
Erv3	T	C	2: 131,698,101 (GRCm39)	H86R	probably benign	Het
Gm5114	A	G	7: 39,060,553 (GRCm39)	W99R	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hjv	T	G	3: 96,433,909 (GRCm39)	C27G	probably damaging	Het
Ifrd2	T	C	9: 107,469,469 (GRCm39)		probably benign	Het
Ikbkb	T	C	8: 23,150,407 (GRCm39)	*758W	probably null	Het
Il1rap	T	C	16: 26,495,734 (GRCm39)	C114R	probably damaging	Het
Irf6	T	C	1: 192,845,033 (GRCm39)	I168T	probably benign	Het
Kmt2d	T	C	15: 98,759,767 (GRCm39)	I1164V	unknown	Het
Lamb3	T	C	1: 193,021,168 (GRCm39)	L915P	probably damaging	Het
Lca5	T	C	9: 83,273,909 (GRCm39)		probably benign	Het
Lhx3	C	A	2: 26,092,258 (GRCm39)	R211L	probably damaging	Het
Mettl8	T	C	2: 70,882,062 (GRCm39)		probably benign	Het
Mroh1	T	C	15: 76,334,386 (GRCm39)	S1297P	probably benign	Het
Myh14	T	A	7: 44,306,852 (GRCm39)	T232S	probably benign	Het
Nemp2	T	A	1: 52,688,868 (GRCm39)	F377L	probably damaging	Het
Obscn	A	G	11: 58,889,085 (GRCm39)		probably null	Het
Or4b1b	T	A	2: 90,112,356 (GRCm39)	T188S	probably benign	Het
Or51ah3	T	C	7: 103,210,290 (GRCm39)	V202A	probably benign	Het
Pgbd5	A	C	8: 125,110,998 (GRCm39)	V231G	possibly damaging	Het
Pitrm1	T	C	13: 6,606,666 (GRCm39)	L240P	probably benign	Het
Pkhd1	A	G	1: 20,462,234 (GRCm39)		probably null	Het
Ppp2r5a	T	A	1: 191,100,835 (GRCm39)		probably benign	Het
Pramel31	C	T	4: 144,090,345 (GRCm39)	L462F	possibly damaging	Het
Prss30	C	T	17: 24,192,628 (GRCm39)	C147Y	probably damaging	Het
Ptpru	C	T	4: 131,546,297 (GRCm39)	V318M	probably damaging	Het
Rpap1	C	T	2: 119,599,730 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,303,219 (GRCm39)	Q184R	probably benign	Het
Rufy1	T	A	11: 50,298,705 (GRCm39)	Q362L	probably benign	Het
Rundc1	A	G	11: 101,322,327 (GRCm39)	K274E	probably damaging	Het
Shroom3	T	A	5: 93,089,584 (GRCm39)	I778K	probably damaging	Het
Slamf6	C	T	1: 171,745,338 (GRCm39)	L22F	possibly damaging	Het
St7l	A	G	3: 104,796,634 (GRCm39)	E249G	probably damaging	Het
Tmem237	T	C	1: 59,153,338 (GRCm39)	N61S	probably benign	Het
Tyk2	T	C	9: 21,038,416 (GRCm39)		probably benign	Het
Ubtf	G	T	11: 102,204,855 (GRCm39)	P115T	probably damaging	Het
Vmn2r70	T	A	7: 85,211,188 (GRCm39)	I508F	possibly damaging	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp663	A	T	2: 165,194,714 (GRCm39)	C502S	probably 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
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
R7976:Ddx17	UTSW	15	79,420,156 (GRCm39)	critical splice donor site	probably null
Z1177:Ddx17	UTSW	15	79,414,373 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AGGAGCCAGACGGAACTTTG -3'
(R):5'- TTTATGCGGCACAGTCTTCC -3'

Sequencing Primer
(F):5'- CCCCCATGAAGGTTAAAAGAAAGTTG -3'
(R):5'- ACTAACTCTGTAGACCAGGCTGG -3'

Posted On

2021-08-31