Mutagenetix > Incidental Mutation

Incidental Mutation 'R1905:Dhx16'

214332

Institutional Source

Beutler Lab

Gene Symbol

Dhx16

Ensembl Gene

ENSMUSG00000024422

Gene Name

DEAH-box helicase 16

Synonyms

DBP2, DEAH (Asp-Glu-Ala-His) box polypeptide 16, Ddx16, 2410006N22Rik

MMRRC Submission

039924-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1905 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36190711-36203562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 36199247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 814 (S814A)

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: S814A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422
AA Change: S814A

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: ENSMUST00000174330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174449

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: ENSMUST00000173596

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

Meta Mutation Damage Score

0.0930

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.1%

Validation Efficiency

99% (90/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	T	13: 119,606,216 (GRCm39)	V153L	possibly damaging	Het
Adamts17	T	A	7: 66,697,220 (GRCm39)	C631*	probably null	Het
Adamts19	A	G	18: 59,166,017 (GRCm39)	R1070G	possibly damaging	Het
Aldh1a1	A	G	19: 20,595,362 (GRCm39)	E97G	probably damaging	Het
Bola2	T	A	7: 126,295,410 (GRCm39)	V40E	probably damaging	Het
Ccar1	A	G	10: 62,612,437 (GRCm39)	S243P	possibly damaging	Het
Cd80	A	T	16: 38,294,539 (GRCm39)	I141F	probably damaging	Het
Ceacam23	T	A	7: 17,607,477 (GRCm39)		noncoding transcript	Het
Chn2	T	C	6: 54,263,106 (GRCm39)	C92R	probably damaging	Het
Ciao2a	A	G	9: 66,039,929 (GRCm39)	K82R	probably benign	Het
Clk1	A	T	1: 58,461,101 (GRCm39)		probably benign	Het
Clock	T	C	5: 76,414,735 (GRCm39)		probably benign	Het
Cntnap3	A	G	13: 65,051,578 (GRCm39)	V26A	probably benign	Het
Csf3r	A	T	4: 125,936,538 (GRCm39)	K651N	probably benign	Het
Cul4a	T	C	8: 13,183,171 (GRCm39)	M322T	probably benign	Het
Cx3cl1	A	G	8: 95,506,687 (GRCm39)	T231A	probably benign	Het
Cyp2c68	A	T	19: 39,724,026 (GRCm39)	C213S	probably benign	Het
Dnah1	T	C	14: 30,986,587 (GRCm39)	I3659V	probably benign	Het
Dock6	A	T	9: 21,740,870 (GRCm39)	V906D	probably benign	Het
Ep400	G	A	5: 110,818,814 (GRCm39)	T2738I	probably damaging	Het
Erbb4	A	T	1: 68,114,569 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,404,836 (GRCm39)	R70H	probably damaging	Het
Fam13a	T	C	6: 58,930,475 (GRCm39)	Q479R	probably damaging	Het
Fcgr4	A	T	1: 170,856,874 (GRCm39)	Q247L	probably damaging	Het
Flnc	T	A	6: 29,459,459 (GRCm39)	C2520S	probably damaging	Het
Foxn1	A	G	11: 78,262,636 (GRCm39)		probably null	Het
Fsip2	C	T	2: 82,813,772 (GRCm39)	P3364S	possibly damaging	Het
Fzd8	C	T	18: 9,213,803 (GRCm39)	T295I	probably damaging	Het
Gm4744	G	A	6: 40,928,736 (GRCm39)		probably benign	Het
Gm4871	G	T	5: 144,966,859 (GRCm39)	A208D	probably damaging	Het
Gm527	A	G	12: 64,967,797 (GRCm39)	N73S	possibly damaging	Het
Gm5414	T	C	15: 101,533,075 (GRCm39)	I451V	probably damaging	Het
Golm1	A	T	13: 59,790,065 (GRCm39)	V245E	probably benign	Het
Grik1	A	T	16: 87,693,754 (GRCm39)	Y879*	probably null	Het
Grn	C	A	11: 102,327,276 (GRCm39)	P241Q	probably damaging	Het
H2-T7	T	C	17: 36,453,833 (GRCm39)		noncoding transcript	Het
Hjurp	T	C	1: 88,194,338 (GRCm39)	E190G	probably benign	Het
Hmcn1	A	C	1: 150,868,606 (GRCm39)	I66S	probably damaging	Het
Hykk	T	A	9: 54,853,667 (GRCm39)	Y330N	probably benign	Het
Khdc1c	A	G	1: 21,439,281 (GRCm39)	N89S	probably benign	Het
Lcor	A	G	19: 41,572,013 (GRCm39)	D256G	possibly damaging	Het
Lrrc72	T	A	12: 36,258,661 (GRCm39)		probably null	Het
Lyst	T	G	13: 13,808,719 (GRCm39)	S130A	probably benign	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Mfng	T	C	15: 78,657,286 (GRCm39)	T63A	probably damaging	Het
Mre11a	G	A	9: 14,710,923 (GRCm39)	D206N	probably benign	Het
Myh10	A	G	11: 68,662,694 (GRCm39)		probably benign	Het
Myt1	A	G	2: 181,439,549 (GRCm39)	D357G	probably damaging	Het
Nacad	T	A	11: 6,552,540 (GRCm39)	H217L	probably benign	Het
Ncoa1	A	G	12: 4,345,433 (GRCm39)	V638A	probably damaging	Het
Nlrp3	T	G	11: 59,439,862 (GRCm39)	F480V	probably damaging	Het
Nos1ap	A	G	1: 170,146,127 (GRCm39)	W476R	possibly damaging	Het
Nr1h4	T	A	10: 89,316,421 (GRCm39)	T220S	possibly damaging	Het
Ntf5	G	T	7: 45,065,176 (GRCm39)	V103L	probably damaging	Het
Ntm	C	A	9: 29,090,393 (GRCm39)	D109Y	probably damaging	Het
Or7e178	C	T	9: 20,226,142 (GRCm39)	E17K	probably benign	Het
P2rx7	G	A	5: 122,819,015 (GRCm39)	C479Y	probably damaging	Het
Pappa2	T	A	1: 158,631,073 (GRCm39)		probably null	Het
Pgap1	A	C	1: 54,551,120 (GRCm39)	I520R	probably benign	Het
Pikfyve	G	A	1: 65,231,454 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,622,991 (GRCm39)	S744P	probably benign	Het
Pramel6	A	G	2: 87,339,526 (GRCm39)	R97G	probably damaging	Het
Pramel6	G	T	2: 87,339,527 (GRCm39)	R97M	probably damaging	Het
Psme4	T	C	11: 30,760,922 (GRCm39)	V397A	probably damaging	Het
Ptk2b	T	C	14: 66,396,119 (GRCm39)	D783G	probably damaging	Het
Ptma-ps1	T	A	7: 23,763,306 (GRCm39)	L17*	probably null	Het
Ralgapa2	C	A	2: 146,229,621 (GRCm39)	R1053L	probably damaging	Het
Sap130	C	T	18: 31,813,620 (GRCm39)	P559L	possibly damaging	Het
Sap30	T	C	8: 57,940,345 (GRCm39)	S86G	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema3f	G	T	9: 107,561,575 (GRCm39)	Q500K	probably damaging	Het
Serpinb3d	T	C	1: 107,007,014 (GRCm39)	I231M	possibly damaging	Het
Sf3a1	T	A	11: 4,126,678 (GRCm39)	N563K	probably benign	Het
Sipa1l3	A	G	7: 29,038,592 (GRCm39)	S352P	possibly damaging	Het
Slc6a12	G	T	6: 121,324,402 (GRCm39)	E9*	probably null	Het
Srebf1	T	C	11: 60,095,319 (GRCm39)	D400G	probably damaging	Het
Swsap1	T	C	9: 21,867,988 (GRCm39)	Y87H	probably damaging	Het
Tanc2	G	A	11: 105,813,689 (GRCm39)	G1711D	possibly damaging	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Tdrd9	T	A	12: 112,030,061 (GRCm39)		probably benign	Het
Tdrp	T	C	8: 14,004,079 (GRCm39)	D86G	probably damaging	Het
Tmem92	A	T	11: 94,669,501 (GRCm39)	M106K	probably benign	Het
Tmf1	A	T	6: 97,138,440 (GRCm39)	C764S	possibly damaging	Het
Ttc21a	G	T	9: 119,795,823 (GRCm39)	R1219L	possibly damaging	Het
Ttn	C	T	2: 76,593,792 (GRCm39)	G18870D	probably damaging	Het
Tubgcp6	T	C	15: 88,984,811 (GRCm39)	Y1732C	probably damaging	Het
Vmn1r28	A	G	6: 58,242,912 (GRCm39)	T252A	probably benign	Het
Xirp2	A	G	2: 67,346,700 (GRCm39)	I2980M	probably damaging	Het
Zc2hc1c	A	G	12: 85,337,288 (GRCm39)	D315G	probably benign	Het

Other mutations in Dhx16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Dhx16	APN	17	36,198,826 (GRCm39)	missense	probably benign	0.02
IGL01533:Dhx16	APN	17	36,192,939 (GRCm39)	missense	probably damaging	1.00
IGL01743:Dhx16	APN	17	36,199,000 (GRCm39)	missense	probably damaging	1.00
IGL01946:Dhx16	APN	17	36,196,396 (GRCm39)	missense	probably benign	0.01
IGL02170:Dhx16	APN	17	36,200,361 (GRCm39)	missense	probably damaging	1.00
IGL02327:Dhx16	APN	17	36,194,717 (GRCm39)	missense	probably benign	0.00
IGL02334:Dhx16	APN	17	36,194,949 (GRCm39)	missense	probably damaging	1.00
IGL02417:Dhx16	APN	17	36,203,429 (GRCm39)	missense	probably damaging	1.00
R0403:Dhx16	UTSW	17	36,193,942 (GRCm39)	critical splice donor site	probably null
R0410:Dhx16	UTSW	17	36,201,859 (GRCm39)	missense	probably damaging	1.00
R0544:Dhx16	UTSW	17	36,192,551 (GRCm39)	missense	probably benign	0.35
R0835:Dhx16	UTSW	17	36,192,581 (GRCm39)	missense	probably damaging	1.00
R0845:Dhx16	UTSW	17	36,194,194 (GRCm39)	missense	probably damaging	1.00
R1642:Dhx16	UTSW	17	36,201,957 (GRCm39)	missense	probably damaging	1.00
R1833:Dhx16	UTSW	17	36,196,511 (GRCm39)	missense	probably benign	0.36
R2233:Dhx16	UTSW	17	36,198,778 (GRCm39)	missense	probably damaging	1.00
R2234:Dhx16	UTSW	17	36,198,778 (GRCm39)	missense	probably damaging	1.00
R4647:Dhx16	UTSW	17	36,196,527 (GRCm39)	missense	probably benign	0.10
R4648:Dhx16	UTSW	17	36,196,527 (GRCm39)	missense	probably benign	0.10
R4665:Dhx16	UTSW	17	36,190,835 (GRCm39)	missense	probably damaging	1.00
R4674:Dhx16	UTSW	17	36,196,831 (GRCm39)	missense	probably damaging	1.00
R4862:Dhx16	UTSW	17	36,194,154 (GRCm39)	missense	probably benign	0.34
R5089:Dhx16	UTSW	17	36,194,981 (GRCm39)	missense	probably damaging	1.00
R5122:Dhx16	UTSW	17	36,194,202 (GRCm39)	missense	probably damaging	1.00
R5665:Dhx16	UTSW	17	36,201,978 (GRCm39)	nonsense	probably null
R5748:Dhx16	UTSW	17	36,194,206 (GRCm39)	missense	probably damaging	1.00
R5763:Dhx16	UTSW	17	36,192,580 (GRCm39)	missense	possibly damaging	0.87
R5956:Dhx16	UTSW	17	36,193,762 (GRCm39)	missense	probably damaging	0.96
R6001:Dhx16	UTSW	17	36,194,766 (GRCm39)	missense	probably damaging	1.00
R6216:Dhx16	UTSW	17	36,193,864 (GRCm39)	missense	possibly damaging	0.49
R6420:Dhx16	UTSW	17	36,193,906 (GRCm39)	missense	possibly damaging	0.92
R6467:Dhx16	UTSW	17	36,197,076 (GRCm39)	missense	probably damaging	1.00
R7326:Dhx16	UTSW	17	36,197,052 (GRCm39)	missense	probably damaging	1.00
R7338:Dhx16	UTSW	17	36,199,036 (GRCm39)	missense	probably damaging	1.00
R7457:Dhx16	UTSW	17	36,201,952 (GRCm39)	missense	probably damaging	1.00
R7736:Dhx16	UTSW	17	36,192,568 (GRCm39)	missense	possibly damaging	0.79
R8508:Dhx16	UTSW	17	36,196,812 (GRCm39)	missense	probably damaging	1.00
R8552:Dhx16	UTSW	17	36,192,183 (GRCm39)	missense	possibly damaging	0.83
R8733:Dhx16	UTSW	17	36,192,267 (GRCm39)	missense	probably benign	0.13
R8831:Dhx16	UTSW	17	36,199,000 (GRCm39)	missense	probably damaging	1.00
R9014:Dhx16	UTSW	17	36,193,490 (GRCm39)	missense	probably benign	0.00
R9194:Dhx16	UTSW	17	36,200,173 (GRCm39)	missense	probably benign	0.01
R9350:Dhx16	UTSW	17	36,200,203 (GRCm39)	missense	probably damaging	1.00
R9625:Dhx16	UTSW	17	36,193,413 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- ACCTTGGAGAACTCACCACG -3'
(R):5'- GCCTCATAAGGGATGGTAAGAC -3'

Sequencing Primer
(F):5'- GCTGGGACAGTATGTAGGA -3'
(R):5'- AAACAAACAAAAACAGTAACAGCATG -3'

Posted On

2014-07-14