Mutagenetix > Incidental Mutation

Incidental Mutation 'R9194:Dhx16'

697882

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35879819-35892670 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35889281 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 864 (V864A)

Ref Sequence

ENSEMBL: ENSMUSP00000025292 (fasta)

Gene Model

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

AlphaFold

G3X8X0

Predicted Effect

probably benign
Transcript: ENSMUST00000025292
AA Change: V864A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422
AA Change: V864A

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: 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: 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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,259,088	M1K	probably null	Het
Adra1b	A	T	11: 43,835,436	V218D	probably damaging	Het
Ank1	A	G	8: 23,116,239	S1216G	possibly damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cfap44	G	T	16: 44,468,461	D1525Y	probably damaging	Het
Chd8	A	T	14: 52,202,193	M2341K	probably benign	Het
Chst11	A	G	10: 83,191,485	T249A	probably damaging	Het
Cttnbp2	A	G	6: 18,434,851	V336A	probably benign	Het
Dennd3	T	C	15: 73,547,304	L648P	probably benign	Het
Dgcr14	A	T	16: 17,910,164	D79E	probably damaging	Het
Enpp3	G	A	10: 24,799,194	H362Y	possibly damaging	Het
Fam83c	T	A	2: 155,829,379	Y712F	probably damaging	Het
Helz	C	T	11: 107,670,287	Q1392*	probably null	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Iqch	T	C	9: 63,572,679	H143R	probably benign	Het
Itgb5	A	G	16: 33,900,511	D315G	probably damaging	Het
Kcnmb2	A	G	3: 32,182,025	K141R	probably benign	Het
Lrrc37a	G	A	11: 103,500,850	P1250S	probably benign	Het
Mcm5	T	G	8: 75,110,334	V110G	probably damaging	Het
Med27	G	A	2: 29,471,300	D163N	probably damaging	Het
Mms22l	C	A	4: 24,600,185	Y1129*	probably null	Het
Mov10l1	G	A	15: 89,046,820	R1081H	probably damaging	Het
Mtpap	C	G	18: 4,380,833	N170K	probably benign	Het
Mtpap	C	T	18: 4,380,834	Q171*	probably null	Het
Myo6	T	A	9: 80,246,554	F271I	unknown	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nfatc1	C	T	18: 80,708,043	A26T	probably benign	Het
Olfr867	C	A	9: 20,055,247	C72F	probably damaging	Het
Piezo2	G	C	18: 63,117,744	T428S	probably benign	Het
Prkch	A	G	12: 73,721,842	E462G	probably damaging	Het
Rbm20	A	G	19: 53,834,700	Y576C	probably damaging	Het
Riok3	TTTCATT	TTT	18: 12,149,585		probably null	Het
Rpp40	C	T	13: 35,896,915	D302N	probably benign	Het
Sash1	A	G	10: 8,740,205	V631A	probably damaging	Het
Sstr2	A	G	11: 113,624,377	T41A	probably benign	Het
Thsd7b	T	A	1: 129,915,634	V861E	possibly damaging	Het
Tomm70a	A	G	16: 57,152,707	K603E	possibly damaging	Het
Tpd52l2	T	A	2: 181,499,890	M22K	possibly damaging	Het
Tpst1	T	A	5: 130,102,019	L110Q	possibly damaging	Het
Tram1l1	A	G	3: 124,321,488	Y99C	possibly damaging	Het
Ttc39b	A	G	4: 83,263,740	F81L	possibly damaging	Het
Ubr1	A	G	2: 120,947,844	Y238H	probably damaging	Het
Vmn1r202	G	T	13: 22,502,146	H34N	possibly damaging	Het
Vmn1r36	G	A	6: 66,716,052	Q280*	probably null	Het
Xpnpep1	A	T	19: 53,011,858	V187E	possibly damaging	Het
Zfp592	A	G	7: 81,024,601	I438V	probably benign	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
R5665:Dhx16	UTSW	17	35891086	nonsense	probably null
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
R8831:Dhx16	UTSW	17	35888108	missense	probably damaging	1.00
R9014:Dhx16	UTSW	17	35882598	missense	probably benign	0.00
R9350:Dhx16	UTSW	17	35889311	missense	probably damaging	1.00
R9625:Dhx16	UTSW	17	35882521	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- GAAGATGTTCCCCTGCTGTG -3'
(R):5'- CGCATGGATCTGAACTGTACAAAG -3'

Sequencing Primer
(F):5'- CCCCTGCTGTGTTTGGGATC -3'
(R):5'- CCATTGGGAAGAGTAGCCACTC -3'

Posted On

2022-02-07