Mutagenetix > Incidental Mutation

Incidental Mutation 'R1833:Dhx16'

204994

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

039860-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36190711-36203562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36196511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 560 (T560A)

Ref Sequence

ENSEMBL: ENSMUSP00000133888 (fasta)

Gene Model

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

AlphaFold

G3X8X0

Predicted Effect

probably benign
Transcript: ENSMUST00000025292
AA Change: T560A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422
AA Change: T560A

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

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: ENSMUST00000174330

Predicted Effect

probably benign
Transcript: ENSMUST00000174366
AA Change: T560A

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133888
Gene: ENSMUSG00000024422
AA Change: T560A

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

Meta Mutation Damage Score

0.0642

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

99% (83/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,350,509 (GRCm39)	D143V	unknown	Het
4930438A08Rik	C	T	11: 58,179,214 (GRCm39)	Q183*	probably null	Het
9230009I02Rik	A	G	11: 50,982,293 (GRCm39)		noncoding transcript	Het
Abhd12	T	A	2: 150,690,338 (GRCm39)	D119V	probably damaging	Het
Adam1b	A	G	5: 121,641,000 (GRCm39)	I15T	possibly damaging	Het
Agtpbp1	A	T	13: 59,613,797 (GRCm39)		probably null	Het
Arfgef1	G	C	1: 10,275,115 (GRCm39)	I312M	probably benign	Het
Arid4a	C	T	12: 71,122,240 (GRCm39)	L874F	possibly damaging	Het
Bcas3	G	A	11: 85,474,775 (GRCm39)	V317I	probably benign	Het
Ccr1	T	A	9: 123,764,126 (GRCm39)	I135F	probably damaging	Het
Ces2h	A	G	8: 105,747,005 (GRCm39)	E547G	possibly damaging	Het
Ces3b	T	A	8: 105,812,271 (GRCm39)	D173E	probably damaging	Het
Chd3	A	G	11: 69,244,949 (GRCm39)	L1197S	probably damaging	Het
Cngb1	A	G	8: 95,968,983 (GRCm39)	L1175P	probably damaging	Het
Cyp4f17	T	C	17: 32,743,184 (GRCm39)	F286L	probably benign	Het
Dclre1a	C	T	19: 56,529,932 (GRCm39)		probably null	Het
Dennd6a	T	A	14: 26,328,109 (GRCm39)	L44H	probably damaging	Het
Dusp12	T	C	1: 170,702,022 (GRCm39)	M326V	probably benign	Het
Eif3k	T	C	7: 28,670,852 (GRCm39)	I180V	probably benign	Het
Erc1	A	G	6: 119,720,390 (GRCm39)	I437T	possibly damaging	Het
Farp2	T	A	1: 93,504,086 (GRCm39)		probably benign	Het
Foxa3	A	G	7: 18,748,499 (GRCm39)	L209P	probably damaging	Het
Garin2	G	A	12: 78,762,280 (GRCm39)		probably benign	Het
Gen1	A	T	12: 11,298,352 (GRCm39)		probably benign	Het
Gm10305	A	G	4: 99,161,363 (GRCm39)	T91A	unknown	Het
Gm14412	T	C	2: 177,007,583 (GRCm39)	D104G	probably benign	Het
Gm6900	T	C	7: 10,390,515 (GRCm39)		noncoding transcript	Het
Gpx1	A	T	9: 108,216,555 (GRCm39)	Y15F	possibly damaging	Het
H2-M10.3	T	C	17: 36,678,387 (GRCm39)	Y146C	probably damaging	Het
H2-Q7	C	A	17: 35,658,675 (GRCm39)	S104R	probably benign	Het
Hephl1	T	C	9: 14,988,224 (GRCm39)	Y628C	probably damaging	Het
Hspa5	T	A	2: 34,666,065 (GRCm39)	Y636*	probably null	Het
Htt	A	G	5: 35,063,092 (GRCm39)		probably benign	Het
Idh1	T	C	1: 65,200,273 (GRCm39)	I364V	probably benign	Het
Itgae	G	T	11: 73,007,988 (GRCm39)	A423S	possibly damaging	Het
Kng2	T	C	16: 22,830,802 (GRCm39)	N169S	possibly damaging	Het
Larp4b	C	T	13: 9,201,235 (GRCm39)	T369I	possibly damaging	Het
Lcor	T	C	19: 41,573,387 (GRCm39)	I714T	probably benign	Het
Lhfpl7	A	G	5: 113,382,435 (GRCm39)		probably benign	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Magi2	G	T	5: 19,432,455 (GRCm39)	G57C	probably damaging	Het
Mdn1	T	A	4: 32,720,761 (GRCm39)	H2291Q	probably damaging	Het
Mgam	T	C	6: 40,631,652 (GRCm39)		probably null	Het
Micall2	A	G	5: 139,702,508 (GRCm39)	V245A	probably benign	Het
Mipep	T	G	14: 61,109,512 (GRCm39)	Y630D	probably damaging	Het
Msx2	A	T	13: 53,622,221 (GRCm39)	M263K	probably damaging	Het
Nectin2	G	T	7: 19,451,633 (GRCm39)	P467H	probably damaging	Het
Nek10	A	T	14: 14,842,789 (GRCm38)	M165L	probably benign	Het
Nlrp4b	A	T	7: 10,459,863 (GRCm39)	M455L	probably benign	Het
Oaz3	TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG	TGGAGGCAGGAGCACGGGAGGCAG	3: 94,343,349 (GRCm39)		probably benign	Het
Or10ad1b	T	A	15: 98,124,846 (GRCm39)	I227F	probably damaging	Het
Or4c10	T	A	2: 89,760,645 (GRCm39)	L164*	probably null	Het
Pcx	T	A	19: 4,669,132 (GRCm39)	V710E	probably damaging	Het
Pkn2	C	T	3: 142,527,408 (GRCm39)	R347Q	probably damaging	Het
Pramel51	T	C	12: 88,145,218 (GRCm39)	E44G	possibly damaging	Het
Qsox1	C	T	1: 155,666,791 (GRCm39)	G233S	probably benign	Het
Rbl1	T	A	2: 157,037,475 (GRCm39)	N224I	probably damaging	Het
Rspry1	A	G	8: 95,362,116 (GRCm39)	T132A	probably damaging	Het
Sclt1	A	G	3: 41,681,546 (GRCm39)	V91A	probably damaging	Het
Sema4f	A	T	6: 82,895,540 (GRCm39)	L331H	probably benign	Het
Sf3b3	T	A	8: 111,544,198 (GRCm39)	Q814L	probably benign	Het
Slc19a2	T	G	1: 164,089,753 (GRCm39)	Y190D	probably damaging	Het
Smarcc1	T	A	9: 109,982,879 (GRCm39)	H204Q	possibly damaging	Het
Sox6	T	C	7: 115,376,328 (GRCm39)	K135E	probably damaging	Het
Tecpr1	T	C	5: 144,145,426 (GRCm39)	Q607R	probably damaging	Het
Tgfb1i1	A	G	7: 127,848,670 (GRCm39)		probably benign	Het
Tirap	T	G	9: 35,099,999 (GRCm39)	R228S	probably benign	Het
Trp53bp2	T	A	1: 182,256,581 (GRCm39)	H50Q	probably damaging	Het
Try4	A	G	6: 41,280,365 (GRCm39)	H63R	probably damaging	Het
Vmn2r25	G	A	6: 123,816,643 (GRCm39)	P313S	probably benign	Het
Vps26a	A	C	10: 62,294,825 (GRCm39)	L250V	probably benign	Het
Vwf	A	G	6: 125,619,000 (GRCm39)	H1226R	probably benign	Het
Wdtc1	TCC	TC	4: 133,036,053 (GRCm39)		probably benign	Het
Zc3hav1l	A	T	6: 38,274,881 (GRCm39)		probably benign	Het
Zfp119b	T	G	17: 56,246,271 (GRCm39)	H305P	probably damaging	Het
Zfp326	C	T	5: 106,039,035 (GRCm39)	Q134*	probably null	Het
Zfp975	C	T	7: 42,311,263 (GRCm39)	R450Q	probably benign	Het
Zfyve26	A	T	12: 79,333,032 (GRCm39)	M313K	probably benign	Het
Zscan5b	T	C	7: 6,241,965 (GRCm39)	S395P	possibly damaging	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
R1905:Dhx16	UTSW	17	36,199,247 (GRCm39)	missense	probably benign
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'- ACTGCTAAGTCCACTGTCCC -3'
(R):5'- TATAGGGTCACAGAAGGGCC -3'

Sequencing Primer
(F):5'- GCTAAGTCCACTGTCCCTTCTC -3'
(R):5'- TCACAGAAGGGCCACTTGCTC -3'

Posted On

2014-06-23