Mutagenetix > Incidental Mutations

Incidental Mutation 'R2233:Dhx16'

240215

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

040234-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2233 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

35879819-35892670 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35887886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 737 (C737R)

Ref Sequence

ENSEMBL: ENSMUSP00000025292 (fasta)

Gene Model

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

AlphaFold

G3X8X0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025292
AA Change: C737R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422
AA Change: C737R

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

noncoding transcript
Transcript: ENSMUST00000172730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173596

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

noncoding transcript
Transcript: ENSMUST00000174308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174330

Predicted Effect

silent
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: ENSMUST00000174449

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,545,512	I360V	probably benign	Het
Adarb1	A	G	10: 77,317,349	V322A	probably damaging	Het
Atad2b	T	G	12: 5,006,745	F867C	probably damaging	Het
Ccdc24	T	C	4: 117,869,916	K79R	possibly damaging	Het
Cfap44	A	G	16: 44,451,525	I1214V	probably benign	Het
Chrm4	A	G	2: 91,928,530	S428G	probably benign	Het
Chrnb1	A	T	11: 69,795,602	I64N	probably damaging	Het
Crh	A	T	3: 19,693,932	M182K	probably damaging	Het
Dazap1	A	G	10: 80,277,599	K110E	possibly damaging	Het
Dst	A	G	1: 34,274,262	E6384G	probably damaging	Het
Dync1i2	C	T	2: 71,249,420	Q419*	probably null	Het
E2f4	T	A	8: 105,298,651	V121E	probably damaging	Het
Enah	G	A	1: 181,921,972	P415L	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	C	6: 23,246,003	T388A	probably damaging	Het
Gimap6	T	A	6: 48,704,484	H72L	possibly damaging	Het
Gm11149	A	G	9: 49,562,146		probably benign	Het
Gm12695	C	T	4: 96,724,029	R499Q	probably damaging	Het
Grhl1	A	G	12: 24,608,511	D385G	probably damaging	Het
Hyou1	C	T	9: 44,389,091	T855M	probably benign	Het
Igf1r	T	A	7: 68,212,080	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,480,638	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,319,467	V189D	probably damaging	Het
Kifap3	T	A	1: 163,856,065	D438E	probably benign	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lrrc41	G	A	4: 116,096,385	R756Q	possibly damaging	Het
Lrrc49	A	T	9: 60,598,157	F538L	possibly damaging	Het
Nphp3	G	A	9: 104,037,376	R1052H	probably benign	Het
Nynrin	G	A	14: 55,872,067	V1544I	possibly damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1154	G	A	2: 87,903,475	S67F	probably damaging	Het
Olfr1346	T	C	7: 6,474,442	S111P	possibly damaging	Het
Osbpl6	T	C	2: 76,586,769	F577L	probably damaging	Het
Otc	A	G	X: 10,303,367	Q216R	probably benign	Het
Ppp1r12a	A	G	10: 108,198,919	I108M	possibly damaging	Het
Prl7a1	C	A	13: 27,642,419		probably null	Het
Prss16	T	C	13: 22,009,409	D72G	possibly damaging	Het
Qrsl1	T	C	10: 43,896,096	K33E	probably benign	Het
Rabepk	A	T	2: 34,795,234	I58N	possibly damaging	Het
Ralgapa1	A	T	12: 55,717,071	H1403Q	probably benign	Het
Rhobtb3	C	A	13: 75,872,365	C606F	possibly damaging	Het
Rnf216	G	A	5: 143,090,926	H68Y	probably benign	Het
Scap	T	C	9: 110,381,593	C998R	probably damaging	Het
Scgb1b27	T	C	7: 34,021,824	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,244,165	Y502C	probably damaging	Het
Sf3a2	G	T	10: 80,802,829	A95S	probably benign	Het
Sis	A	T	3: 72,913,194	F1412L	probably benign	Het
Slc25a29	A	T	12: 108,835,661	C9S	possibly damaging	Het
Snap91	T	C	9: 86,798,571	T427A	probably benign	Het
St3gal6	A	G	16: 58,473,534	F211L	probably damaging	Het
Stab1	G	A	14: 31,161,880	S240F	probably benign	Het
Sun3	T	A	11: 9,023,371	K109*	probably null	Het
Syne1	T	C	10: 5,041,484	N8410S	probably benign	Het
Tbx18	G	T	9: 87,724,350	S247R	probably damaging	Het
Tenm3	T	C	8: 48,276,169	I1601V	probably benign	Het
Tmem135	T	C	7: 89,154,074	N297S	probably damaging	Het
Tnk1	C	T	11: 69,855,191		probably null	Het
Txnl4b	A	G	8: 109,568,919		probably benign	Het
Uck1	T	C	2: 32,258,303	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,049,665	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,669,996	V239M	possibly damaging	Het
Zmpste24	T	C	4: 121,097,965	D12G	probably benign	Het
Zscan25	A	G	5: 145,283,692	Y99C	probably damaging	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
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
R9194:Dhx16	UTSW	17	35889281	missense	probably benign	0.01
R9350:Dhx16	UTSW	17	35889311	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGATGGGGATTATCACTTACC -3'
(R):5'- ATCAGGTCATGGATCCCTGG -3'

Sequencing Primer
(F):5'- TTCTGAGTTAACACTGACCAGGCG -3'
(R):5'- TCCCTGGGGAAAGGAATAAAGAATG -3'

Posted On

2014-10-15