Mutagenetix > Incidental Mutations

Incidental Mutation 'R5665:Dhx16'

501338

Institutional Source

Beutler Lab

Gene Symbol

Dhx16

Ensembl Gene

ENSMUSG00000024422

Gene Name

DEAH (Asp-Glu-Ala-His) box polypeptide 16

Synonyms

Ddx16, DBP2, 2410006N22Rik

MMRRC Submission

043308-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5665 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

35879819-35892670 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 35891086 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 1002 (Q1002*)

Ref Sequence

ENSEMBL: ENSMUSP00000025292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025292] [ENSMUST00000146451] [ENSMUST00000148482] [ENSMUST00000148721] [ENSMUST00000150056] [ENSMUST00000156817] [ENSMUST00000174366]

Predicted Effect

probably null
Transcript: ENSMUST00000025292
AA Change: Q1002*

SMART Domains

Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422
AA Change: Q1002*

Domain	Start	End	E-Value	Type
Blast:DEXDc	55	310	6e-57	BLAST
DEXDc	400	585	7.26e-33	SMART
HELICc	636	733	1.7e-15	SMART
HA2	794	885	2.24e-31	SMART
Pfam:OB_NTP_bind	901	1018	3.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059740

SMART Domains

Protein: ENSMUSP00000050693
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC
Pfam:DUF2358	75	200	5.1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146451

SMART Domains

Protein: ENSMUSP00000115771
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	45	57	N/A	INTRINSIC
Pfam:DUF2358	66	191	1.5e-35	PFAM
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148482

SMART Domains

Protein: ENSMUSP00000114151
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	45	57	N/A	INTRINSIC
Pfam:DUF2358	66	191	1.5e-35	PFAM
low complexity region	206	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148721

SMART Domains

Protein: ENSMUSP00000116278
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	28	79	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Pfam:DUF2358	149	274	1.4e-36	PFAM
low complexity region	289	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150056

SMART Domains

Protein: ENSMUSP00000121142
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	45	57	N/A	INTRINSIC
Pfam:DUF2358	66	130	5e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151274

Predicted Effect

probably benign
Transcript: ENSMUST00000154670

SMART Domains

Protein: ENSMUSP00000123547
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
Pfam:DUF2358	2	97	7.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156817

SMART Domains

Protein: ENSMUSP00000114851
Gene: ENSMUSG00000050705

Domain	Start	End	E-Value	Type
low complexity region	16	60	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173596

Predicted Effect

probably benign
Transcript: ENSMUST00000174366

SMART Domains

Protein: ENSMUSP00000133888
Gene: ENSMUSG00000024422

Domain	Start	End	E-Value	Type
Blast:DEXDc	55	310	9e-58	BLAST
DEXDc	400	585	7.26e-33	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174308

Predicted Effect

probably benign
Transcript: ENSMUST00000173967

SMART Domains

Protein: ENSMUSP00000133818
Gene: ENSMUSG00000024422

Domain	Start	End	E-Value	Type
Blast:DEXDc	2	83	5e-35	BLAST
PDB:3I4U\|A	4	83	6e-14	PDB

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
Acaca	G	T	11: 84,245,294	E492*	probably null	Het
Acp7	T	A	7: 28,616,543	K206M	probably benign	Het
Agbl1	T	A	7: 76,589,503	F584I	probably damaging	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Arhgef40	A	G	14: 52,000,900	I1279V	possibly damaging	Het
Arl14	A	C	3: 69,223,038	T173P	probably damaging	Het
Asap1	A	G	15: 64,312,453	S44P	probably damaging	Het
Btbd7	C	A	12: 102,785,197	A1103S	probably benign	Het
Capn10	T	A	1: 92,937,931		probably null	Het
Capn7	T	C	14: 31,369,802	F719L	probably benign	Het
Casp7	G	A	19: 56,440,982	D267N	probably benign	Het
Ccdc13	C	A	9: 121,814,290	K348N	probably damaging	Het
Chchd1	T	C	14: 20,703,110	F13L	probably benign	Het
Clcn6	T	A	4: 148,014,561	M442L	possibly damaging	Het
Col6a3	T	C	1: 90,827,880	E229G	probably benign	Het
Cyb5r3	A	G	15: 83,154,554	F278S	probably damaging	Het
Dppa4	T	C	16: 48,291,015	L121P	probably benign	Het
Dpyd	A	G	3: 118,917,092	E383G	probably damaging	Het
Eif4g3	A	G	4: 138,126,589	T489A	probably benign	Het
Elovl1	G	T	4: 118,431,635	V174L	probably damaging	Het
Elp3	T	C	14: 65,551,402	K392E	possibly damaging	Het
Fancd2os	C	A	6: 113,598,024	W7L	probably damaging	Het
Fchsd2	A	G	7: 101,110,784	T23A	possibly damaging	Het
Gabrp	C	G	11: 33,554,308	A336P	possibly damaging	Het
Gcm2	T	A	13: 41,109,911	Y15F	possibly damaging	Het
Gpr132	G	A	12: 112,852,796	R137C	probably damaging	Het
Herc1	A	G	9: 66,465,435	E3091G	probably damaging	Het
Homer1	A	T	13: 93,356,102	M184L	probably benign	Het
Izumo1r	T	C	9: 14,900,849	E117G	probably damaging	Het
Kcnt1	C	T	2: 25,901,909	Q590*	probably null	Het
Lama1	G	T	17: 67,770,987	C1139F	probably damaging	Het
Med29	C	T	7: 28,386,814	A190T	probably benign	Het
Mgea5	A	C	19: 45,776,997	S124A	probably benign	Het
Muc4	T	C	16: 32,750,782	V220A	probably benign	Het
Mxra8	G	T	4: 155,842,921	V388L	probably benign	Het
Myo5a	T	C	9: 75,144,181		probably null	Het
Myrip	A	G	9: 120,461,433	Y706C	probably damaging	Het
Nphp4	T	C	4: 152,506,485	V313A	probably benign	Het
Olfm2	T	G	9: 20,668,544		probably null	Het
Olfr1113	T	A	2: 87,213,728	S279T	probably benign	Het
Olfr248	T	C	1: 174,391,375	F102S	probably damaging	Het
Pcdh15	C	T	10: 74,626,788	P1398L	probably damaging	Het
Pdpr	A	G	8: 111,114,811	E225G	possibly damaging	Het
Pigs	C	A	11: 78,328,769		probably null	Het
Pkhd1	T	A	1: 20,588,531	T159S	probably damaging	Het
Plk4	A	G	3: 40,813,586	T87A	possibly damaging	Het
Plxna4	T	C	6: 32,215,722	Y768C	probably damaging	Het
Prl3d3	T	A	13: 27,159,081		probably null	Het
Pygb	T	C	2: 150,820,888		probably null	Het
Rnf114	T	C	2: 167,510,934	I118T	possibly damaging	Het
Sbno2	A	G	10: 80,058,453	L1099P	probably benign	Het
Scaper	T	C	9: 55,807,632	K791E	probably damaging	Het
Serping1	T	C	2: 84,771,545	T194A	probably damaging	Het
Slc12a9	A	G	5: 137,321,403	S617P	possibly damaging	Het
Slk	G	A	19: 47,636,457	R1039H	probably damaging	Het
Sntb1	T	A	15: 55,792,139	E227V	probably benign	Het
Sostdc1	C	A	12: 36,314,408	P39T	probably benign	Het
Spred1	C	T	2: 117,153,005	R16*	probably null	Het
Srpk2	A	G	5: 23,518,477	I547T	probably damaging	Het
Stt3a	A	G	9: 36,759,314	Y54H	probably damaging	Het
Stt3b	A	T	9: 115,266,147	L272H	probably damaging	Het
Syne2	T	A	12: 76,108,217		probably null	Het
Uso1	A	T	5: 92,198,337	E793V	possibly damaging	Het
Usp15	A	T	10: 123,130,987	L476*	probably null	Het
Vmn1r189	T	C	13: 22,102,166	Y167C	probably damaging	Het
Vmn2r24	A	G	6: 123,786,979	T272A	possibly damaging	Het
Vps13a	A	T	19: 16,668,690	H1994Q	probably damaging	Het
Zbtb10	T	C	3: 9,265,192	S537P	probably damaging	Het
Zbtb12	T	C	17: 34,895,883	S215P	possibly damaging	Het
Zfp346	T	C	13: 55,113,102	M81T	probably benign	Het
Zfp800	T	C	6: 28,244,513	D151G	probably null	Het

Other mutations in Dhx16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Dhx16	APN	17	35887934	missense	probably benign	0.02
IGL01533:Dhx16	APN	17	35882047	missense	probably damaging	1.00
IGL01743:Dhx16	APN	17	35888108	missense	probably damaging	1.00
IGL01946:Dhx16	APN	17	35885504	missense	probably benign	0.01
IGL02170:Dhx16	APN	17	35889469	missense	probably damaging	1.00
IGL02327:Dhx16	APN	17	35883825	missense	probably benign	0.00
IGL02334:Dhx16	APN	17	35884057	missense	probably damaging	1.00
IGL02417:Dhx16	APN	17	35892537	missense	probably damaging	1.00
R0403:Dhx16	UTSW	17	35883050	critical splice donor site	probably null
R0410:Dhx16	UTSW	17	35890967	missense	probably damaging	1.00
R0544:Dhx16	UTSW	17	35881659	missense	probably benign	0.35
R0835:Dhx16	UTSW	17	35881689	missense	probably damaging	1.00
R0845:Dhx16	UTSW	17	35883302	missense	probably damaging	1.00
R1642:Dhx16	UTSW	17	35891065	missense	probably damaging	1.00
R1833:Dhx16	UTSW	17	35885619	missense	probably benign	0.36
R1905:Dhx16	UTSW	17	35888355	missense	probably benign
R2233:Dhx16	UTSW	17	35887886	missense	probably damaging	1.00
R2234:Dhx16	UTSW	17	35887886	missense	probably damaging	1.00
R4647:Dhx16	UTSW	17	35885635	missense	probably benign	0.10
R4648:Dhx16	UTSW	17	35885635	missense	probably benign	0.10
R4665:Dhx16	UTSW	17	35879943	missense	probably damaging	1.00
R4674:Dhx16	UTSW	17	35885939	missense	probably damaging	1.00
R4862:Dhx16	UTSW	17	35883262	missense	probably benign	0.34
R5089:Dhx16	UTSW	17	35884089	missense	probably damaging	1.00
R5122:Dhx16	UTSW	17	35883310	missense	probably damaging	1.00
R5748:Dhx16	UTSW	17	35883314	missense	probably damaging	1.00
R5763:Dhx16	UTSW	17	35881688	missense	possibly damaging	0.87
R5956:Dhx16	UTSW	17	35882870	missense	probably damaging	0.96
R6001:Dhx16	UTSW	17	35883874	missense	probably damaging	1.00
R6216:Dhx16	UTSW	17	35882972	missense	possibly damaging	0.49
R6420:Dhx16	UTSW	17	35883014	missense	possibly damaging	0.92
R6467:Dhx16	UTSW	17	35886184	missense	probably damaging	1.00
R7326:Dhx16	UTSW	17	35886160	missense	probably damaging	1.00
R7338:Dhx16	UTSW	17	35888144	missense	probably damaging	1.00
R7457:Dhx16	UTSW	17	35891060	missense	probably damaging	1.00
R7736:Dhx16	UTSW	17	35881676	missense	possibly damaging	0.79
R8508:Dhx16	UTSW	17	35885920	missense	probably damaging	1.00
R8552:Dhx16	UTSW	17	35881291	missense	possibly damaging	0.83
R8733:Dhx16	UTSW	17	35881375	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AGTGGGTCCTTCACTGAGTC -3'
(R):5'- TGAGGACTATACCACTGAGCTC -3'

Sequencing Primer
(F):5'- ACCTTTTTAGTGGTGCCTGAC -3'
(R):5'- GGACTATACCACTGAGCTCCAACC -3'

Posted On

2017-12-01