Mutagenetix > Incidental Mutation

Incidental Mutation 'R4665:Dhx16'

401863

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

041923-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4665 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

36190711-36203562 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36190835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 11 (V11A)

Ref Sequence

ENSEMBL: ENSMUSP00000133888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025292] [ENSMUST00000113814] [ENSMUST00000122899] [ENSMUST00000127442] [ENSMUST00000144382] [ENSMUST00000174366] [ENSMUST00000187690] [ENSMUST00000190496]

AlphaFold

G3X8X0

Predicted Effect

probably damaging
Transcript: ENSMUST00000025292
AA Change: V11A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422
AA Change: V11A

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: ENSMUST00000113814

SMART Domains

Protein: ENSMUSP00000109445
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122899

SMART Domains

Protein: ENSMUSP00000120343
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127442

SMART Domains

Protein: ENSMUSP00000115753
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	27	117	1.5e-39	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	540	6.9e-34	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144382

SMART Domains

Protein: ENSMUSP00000116100
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000174366
AA Change: V11A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133888
Gene: ENSMUSG00000024422
AA Change: V11A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000187690

SMART Domains

Protein: ENSMUSP00000141094
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin_N	28	117	1.3e-42	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	353	365	N/A	INTRINSIC
Pfam:Phostensin	417	541	7.7e-49	PFAM
low complexity region	560	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190496

SMART Domains

Protein: ENSMUSP00000140652
Gene: ENSMUSG00000034595

Domain	Start	End	E-Value	Type
Pfam:Phostensin	1	113	3.6e-43	PFAM
low complexity region	132	145	N/A	INTRINSIC

Meta Mutation Damage Score

0.6439

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (89/90)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	A	6: 86,902,059 (GRCm39)	M76K	probably null	Het
Abcc4	A	G	14: 118,766,414 (GRCm39)	I886T	probably benign	Het
Adam6a	T	C	12: 113,507,992 (GRCm39)	Y122H	possibly damaging	Het
Adgre1	A	G	17: 57,787,947 (GRCm39)	T905A	probably benign	Het
Arap2	A	G	5: 62,827,312 (GRCm39)	F969L	possibly damaging	Het
Arhgef4	G	T	1: 34,845,113 (GRCm39)	G1439V	possibly damaging	Het
Atm	A	G	9: 53,375,529 (GRCm39)	W2097R	probably benign	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
AU016765	T	A	17: 64,826,916 (GRCm39)		noncoding transcript	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Cdc42bpa	A	G	1: 179,972,130 (GRCm39)	T527A	probably damaging	Het
Chmp7	A	T	14: 69,958,404 (GRCm39)	V255D	probably damaging	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Cpsf2	T	C	12: 101,949,466 (GRCm39)	S61P	probably damaging	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Crygn	T	A	5: 24,956,019 (GRCm39)		probably benign	Het
Csde1	C	T	3: 102,954,388 (GRCm39)	T386M	probably damaging	Het
Cux1	G	A	5: 136,315,653 (GRCm39)	T1129I	probably damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Duox1	C	T	2: 122,149,956 (GRCm39)	P116S	probably benign	Het
Eif5b	A	G	1: 38,084,793 (GRCm39)	E880G	probably damaging	Het
Eml6	A	T	11: 29,769,007 (GRCm39)	Y67*	probably null	Het
Faim2	C	A	15: 99,422,581 (GRCm39)		probably null	Het
Faim2	T	G	15: 99,422,582 (GRCm39)	S72R	probably benign	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Fhip1a	A	T	3: 85,637,988 (GRCm39)	W104R	probably damaging	Het
Gak	A	G	5: 108,730,826 (GRCm39)	I860T	probably benign	Het
Garem2	C	A	5: 30,319,665 (GRCm39)	R376S	probably damaging	Het
Gdf2	A	G	14: 33,667,408 (GRCm39)	T377A	probably damaging	Het
Gm2431	A	T	7: 141,811,440 (GRCm39)	C155S	unknown	Het
Gm5814	A	G	17: 47,721,288 (GRCm39)	M1V	probably null	Het
Gm5901	C	G	7: 105,026,438 (GRCm39)	Q69E	possibly damaging	Het
Gm9945	A	G	11: 53,371,202 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,908,956 (GRCm39)	V486A	probably benign	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Hoxa11	T	A	6: 52,220,483 (GRCm39)	N267Y	probably damaging	Het
Ifngr2	C	A	16: 91,356,926 (GRCm39)	H153Q	possibly damaging	Het
Ift172	G	T	5: 31,442,598 (GRCm39)	Q190K	possibly damaging	Het
Iqch	A	G	9: 63,352,853 (GRCm39)	V899A	probably damaging	Het
Lactb2	T	C	1: 13,717,624 (GRCm39)	E133G	probably damaging	Het
Lig3	G	A	11: 82,691,076 (GRCm39)	V110M	probably damaging	Het
Lin54	C	A	5: 100,600,943 (GRCm39)	Q262H	possibly damaging	Het
Lingo3	G	A	10: 80,671,372 (GRCm39)	T186I	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Ly86	T	A	13: 37,559,010 (GRCm39)	F70I	probably damaging	Het
Mospd2	A	T	X: 163,730,329 (GRCm39)	S301T	probably benign	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Myo15a	A	T	11: 60,395,705 (GRCm39)		probably null	Het
Nme8	C	G	13: 19,858,605 (GRCm39)	A78P	probably damaging	Het
Obscn	C	T	11: 59,015,578 (GRCm39)	V965M	probably damaging	Het
Or10ag57	T	A	2: 87,218,220 (GRCm39)	I57K	probably damaging	Het
Parn	T	C	16: 13,358,967 (GRCm39)	K592E	probably benign	Het
Pax6	C	A	2: 105,514,343 (GRCm39)		probably benign	Het
Pdcd6	A	T	13: 74,465,325 (GRCm39)	M1K	probably null	Het
Pex11b	T	C	3: 96,551,151 (GRCm39)	L198P	possibly damaging	Het
Phldb3	C	T	7: 24,310,852 (GRCm39)	A28V	probably benign	Het
Pkn3	C	A	2: 29,975,469 (GRCm39)		probably benign	Het
Pknox1	T	C	17: 31,814,300 (GRCm39)		probably null	Het
Ptprg	A	C	14: 12,215,288 (GRCm38)	I1092L	possibly damaging	Het
Pxylp1	A	C	9: 96,707,338 (GRCm39)	I281M	probably damaging	Het
Ramac	C	T	7: 81,418,178 (GRCm39)	R78W	probably damaging	Het
Retreg2	G	T	1: 75,121,310 (GRCm39)	L195F	probably damaging	Het
Rgs20	G	C	1: 5,091,231 (GRCm39)	F66L	probably benign	Het
Ripk4	C	T	16: 97,556,273 (GRCm39)	V157I	probably damaging	Het
Ryr2	T	C	13: 11,765,571 (GRCm39)		probably null	Het
Scaper	A	T	9: 55,819,339 (GRCm39)	S125R	probably damaging	Het
Sec16a	C	T	2: 26,302,970 (GRCm39)		probably benign	Het
Slc35f6	T	C	5: 30,812,957 (GRCm39)	L37P	probably damaging	Het
Slc6a12	T	A	6: 121,335,972 (GRCm39)		probably benign	Het
Slc9a5	A	G	8: 106,094,760 (GRCm39)	K784E	probably damaging	Het
Snd1	T	C	6: 28,707,053 (GRCm39)	V455A	probably damaging	Het
Ssbp2	A	T	13: 91,687,454 (GRCm39)	I46L	possibly damaging	Het
Stil	A	G	4: 114,898,841 (GRCm39)	D1157G	probably benign	Het
Tax1bp1	T	A	6: 52,714,116 (GRCm39)	C271S	probably benign	Het
Tdpoz6	G	A	3: 93,599,776 (GRCm39)	H198Y	probably damaging	Het
Tdrd6	T	A	17: 43,935,007 (GRCm39)	M2014L	probably benign	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Tmprss11d	T	C	5: 86,457,260 (GRCm39)	D133G	probably damaging	Het
Tpr	C	T	1: 150,320,150 (GRCm39)	R2233W	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vgll1	A	G	X: 56,137,792 (GRCm39)	R54G	possibly damaging	Het
Wdr72	A	G	9: 74,117,306 (GRCm39)	T673A	probably benign	Het
Zfp169	C	T	13: 48,644,339 (GRCm39)		probably benign	Het
Zfp319	G	A	8: 96,052,201 (GRCm39)		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
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
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'- ATGAAAGCCTCTTGCACTTAGC -3'
(R):5'- ACTGCGTACGAGCCAATTC -3'

Sequencing Primer
(F):5'- AGGCTGCGCGATTTGAAC -3'
(R):5'- CCAATTCGGCTGTGAGTGGC -3'

Posted On

2016-07-14