Mutagenetix > Incidental Mutation

Incidental Mutation 'R1782:Dhx33'

195416

Institutional Source

Beutler Lab

Gene Symbol

Dhx33

Ensembl Gene

ENSMUSG00000040620

Gene Name

DEAH-box helicase 33

Synonyms

3110057P17Rik, DEAH (Asp-Glu-Ala-His) box polypeptide 33, 9430096J02Rik, Ddx33

MMRRC Submission

039813-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1782 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70874917-70895258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70892466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 101 (Y101C)

Ref Sequence

ENSEMBL: ENSMUSP00000104167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108527] [ENSMUST00000124464]

AlphaFold

Q80VY9

Predicted Effect

probably benign
Transcript: ENSMUST00000049048

SMART Domains

Protein: ENSMUSP00000038018
Gene: ENSMUSG00000040620

Domain	Start	End	E-Value	Type
low complexity region	18	27	N/A	INTRINSIC
Blast:DEXDc	41	76	3e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083312

Predicted Effect

probably damaging
Transcript: ENSMUST00000108527
AA Change: Y101C

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

SMART Domains

Protein: ENSMUSP00000104167
Gene: ENSMUSG00000040620
AA Change: Y101C

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
DEXDc	53	252	1.96e-29	SMART
HELICc	300	401	3.45e-16	SMART
HA2	461	554	3.29e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123860

Predicted Effect

probably benign
Transcript: ENSMUST00000124464

SMART Domains

Protein: ENSMUSP00000136051
Gene: ENSMUSG00000040620

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
low complexity region	134	145	N/A	INTRINSIC
HA2	237	330	3.29e-29	SMART
Pfam:OB_NTP_bind	364	464	7.7e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178218

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. The DEAD box proteins are 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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,247,971 (GRCm39)	T2573S	probably benign	Het
Adgra3	G	T	5: 50,129,404 (GRCm39)	T738K	probably benign	Het
Adgrl4	C	T	3: 151,248,442 (GRCm39)	Q705*	probably null	Het
Atp2b1	T	G	10: 98,839,063 (GRCm39)	D630E	probably benign	Het
Atp2c1	G	A	9: 105,308,786 (GRCm39)	R577C	probably damaging	Het
Atp9b	A	G	18: 80,809,137 (GRCm39)	V211A	probably damaging	Het
C8g	T	A	2: 25,389,094 (GRCm39)	D163V	possibly damaging	Het
Catsper1	T	C	19: 5,385,937 (GRCm39)	Y57H	probably benign	Het
Ccdc25	C	T	14: 66,091,597 (GRCm39)	A72V	probably benign	Het
Cdca2	T	G	14: 67,915,260 (GRCm39)	E666D	probably benign	Het
Cdh23	G	A	10: 60,324,321 (GRCm39)	T313I	probably damaging	Het
Cfap57	C	A	4: 118,472,172 (GRCm39)	R69L	probably damaging	Het
Chat	C	A	14: 32,130,944 (GRCm39)	V566L	probably damaging	Het
Cntn3	T	C	6: 102,250,772 (GRCm39)	I259V	probably damaging	Het
Cog1	A	G	11: 113,544,792 (GRCm39)	T325A	probably benign	Het
Cxcl10	A	G	5: 92,495,662 (GRCm39)	*94Q	probably null	Het
Cyp4a12b	T	C	4: 115,291,178 (GRCm39)	Y369H	probably damaging	Het
Dock6	A	G	9: 21,723,142 (GRCm39)	M1593T	probably damaging	Het
Dpy19l3	T	C	7: 35,407,580 (GRCm39)	T488A	possibly damaging	Het
Elapor2	A	T	5: 9,471,620 (GRCm39)	K320N	possibly damaging	Het
Fbxw14	A	G	9: 109,107,759 (GRCm39)	I205T	possibly damaging	Het
Fbxw7	T	C	3: 84,811,126 (GRCm39)	F84L	probably benign	Het
Flii	T	C	11: 60,605,462 (GRCm39)	T1212A	probably benign	Het
Fosl1	T	A	19: 5,500,210 (GRCm39)	I43N	probably damaging	Het
Gabrr2	G	A	4: 33,085,593 (GRCm39)	A338T	probably damaging	Het
Gask1b	T	C	3: 79,793,838 (GRCm39)	L102S	possibly damaging	Het
Gatad2b	T	C	3: 90,249,178 (GRCm39)	V72A	probably benign	Het
Gorasp1	G	T	9: 119,761,888 (GRCm39)	N48K	probably damaging	Het
Gramd1b	C	A	9: 40,324,633 (GRCm39)	D139Y	probably damaging	Het
Gtf3c1	A	T	7: 125,266,246 (GRCm39)	V1030E	probably damaging	Het
Havcr2	C	T	11: 46,345,844 (GRCm39)	T6I	unknown	Het
Hgs	A	G	11: 120,369,331 (GRCm39)	E340G	probably damaging	Het
Irx2	A	G	13: 72,779,585 (GRCm39)	T290A	probably benign	Het
Itgb8	T	A	12: 119,155,853 (GRCm39)	I200F	probably damaging	Het
Josd2	A	G	7: 44,120,577 (GRCm39)	I105V	probably damaging	Het
Kcnh7	T	A	2: 62,566,513 (GRCm39)	D806V	probably damaging	Het
Kctd8	A	G	5: 69,498,319 (GRCm39)	V109A	possibly damaging	Het
Kmt2d	T	A	15: 98,755,429 (GRCm39)		probably benign	Het
Krtap2-4	A	T	11: 99,505,353 (GRCm39)	V86E	probably damaging	Het
Lgr6	C	G	1: 134,915,717 (GRCm39)	V344L	probably damaging	Het
Lime1	A	T	2: 181,024,849 (GRCm39)	R168W	possibly damaging	Het
Macroh2a1	A	T	13: 56,222,134 (GRCm39)	M339K	probably damaging	Het
Magel2	C	T	7: 62,030,605 (GRCm39)	Q1170*	probably null	Het
Ndufaf3	A	T	9: 108,443,210 (GRCm39)	I169N	probably damaging	Het
Neb	T	A	2: 52,174,357 (GRCm39)	K1501*	probably null	Het
Nim1k	A	T	13: 120,173,687 (GRCm39)	S402R	probably benign	Het
Nt5dc2	T	G	14: 30,860,158 (GRCm39)	S395R	probably damaging	Het
Oaz2	G	T	9: 65,596,143 (GRCm39)	V132L	probably benign	Het
Or2t45	T	A	11: 58,669,631 (GRCm39)	L226H	probably damaging	Het
Or4l1	A	T	14: 50,166,096 (GRCm39)	W302R	probably benign	Het
Or5b104	T	A	19: 13,072,167 (GRCm39)	I282F	probably damaging	Het
Or7g25	C	T	9: 19,159,877 (GRCm39)	V273I	probably benign	Het
Or8k39	T	C	2: 86,563,026 (GRCm39)	K310R	probably benign	Het
Pfkl	A	G	10: 77,824,554 (GRCm39)	V717A	probably benign	Het
Phf8-ps	T	C	17: 33,286,662 (GRCm39)	I47V	probably benign	Het
Phgdh	C	T	3: 98,228,063 (GRCm39)	V231I	probably damaging	Het
Pkhd1	A	T	1: 20,635,935 (GRCm39)	M465K	probably damaging	Het
Ppp3r1	A	G	11: 17,148,281 (GRCm39)	H163R	probably benign	Het
Prune2	T	A	19: 17,099,537 (GRCm39)	N1680K	probably benign	Het
Puf60	T	A	15: 75,943,724 (GRCm39)	I216L	probably benign	Het
Rev3l	T	A	10: 39,675,881 (GRCm39)	N190K	probably benign	Het
Rp1	G	A	1: 4,419,312 (GRCm39)	S600L	probably benign	Het
Rpl3l	A	G	17: 24,952,430 (GRCm39)	I217V	probably benign	Het
Scly	T	A	1: 91,236,102 (GRCm39)	V194D	probably damaging	Het
Scnn1b	A	G	7: 121,517,184 (GRCm39)	T607A	probably benign	Het
Slc13a3	G	A	2: 165,287,439 (GRCm39)	L172F	probably benign	Het
Sorbs2	A	G	8: 46,258,733 (GRCm39)	Y1090C	probably damaging	Het
Spag17	T	A	3: 99,918,070 (GRCm39)	M351K	probably benign	Het
St14	A	G	9: 31,011,460 (GRCm39)	Y444H	probably damaging	Het
Taf8	C	A	17: 47,809,136 (GRCm39)	A109S	probably benign	Het
Tbc1d30	T	A	10: 121,103,525 (GRCm39)	K502N	probably damaging	Het
Them5	T	C	3: 94,251,796 (GRCm39)	S136P	probably benign	Het
Tmem248	T	A	5: 130,260,769 (GRCm39)	N111K	probably damaging	Het
Tmem74	C	A	15: 43,730,348 (GRCm39)	V232L	probably damaging	Het
Tnip2	A	T	5: 34,657,012 (GRCm39)	H264Q	probably benign	Het
Trim5	A	G	7: 103,915,023 (GRCm39)		probably null	Het
Trim63	A	G	4: 134,050,349 (GRCm39)	Q211R	probably benign	Het
Trrap	T	C	5: 144,759,513 (GRCm39)	V2231A	possibly damaging	Het
Ttn	T	C	2: 76,565,831 (GRCm39)	S28174G	probably benign	Het
Ugt2b36	T	C	5: 87,229,440 (GRCm39)	D341G	possibly damaging	Het
Uroc1	G	A	6: 90,313,901 (GRCm39)	E63K	probably damaging	Het
Ush2a	T	C	1: 188,643,382 (GRCm39)	V4248A	probably benign	Het
Usp1	A	G	4: 98,822,435 (GRCm39)	H583R	probably damaging	Het
Usp8	T	A	2: 126,561,971 (GRCm39)	F55Y	probably damaging	Het
Vmn2r13	T	A	5: 109,306,040 (GRCm39)	T513S	probably benign	Het
Wdr73	T	C	7: 80,541,526 (GRCm39)	T339A	probably damaging	Het
Wnt2	T	A	6: 18,008,639 (GRCm39)	N266I	possibly damaging	Het
Wwp2	AGAACT	A	8: 108,233,031 (GRCm39)		probably null	Het

Other mutations in Dhx33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Dhx33	APN	11	70,892,446 (GRCm39)	missense	probably benign
IGL01357:Dhx33	APN	11	70,884,687 (GRCm39)	nonsense	probably null
IGL01358:Dhx33	APN	11	70,884,687 (GRCm39)	nonsense	probably null
IGL01359:Dhx33	APN	11	70,884,687 (GRCm39)	nonsense	probably null
IGL01360:Dhx33	APN	11	70,884,687 (GRCm39)	nonsense	probably null
IGL01558:Dhx33	APN	11	70,890,579 (GRCm39)	missense	probably benign	0.01
IGL02232:Dhx33	APN	11	70,878,030 (GRCm39)	missense	probably damaging	1.00
IGL02543:Dhx33	APN	11	70,878,066 (GRCm39)	missense	probably damaging	1.00
R0013:Dhx33	UTSW	11	70,884,461 (GRCm39)	missense	probably damaging	0.99
R0013:Dhx33	UTSW	11	70,884,461 (GRCm39)	missense	probably damaging	0.99
R1544:Dhx33	UTSW	11	70,890,354 (GRCm39)	missense	probably damaging	1.00
R1909:Dhx33	UTSW	11	70,879,933 (GRCm39)	missense	probably benign	0.02
R2074:Dhx33	UTSW	11	70,890,669 (GRCm39)	missense	probably damaging	1.00
R3729:Dhx33	UTSW	11	70,879,978 (GRCm39)	missense	probably benign	0.00
R3731:Dhx33	UTSW	11	70,879,978 (GRCm39)	missense	probably benign	0.00
R5902:Dhx33	UTSW	11	70,879,957 (GRCm39)	missense	probably damaging	1.00
R7129:Dhx33	UTSW	11	70,884,689 (GRCm39)	missense	probably damaging	1.00
R7605:Dhx33	UTSW	11	70,890,299 (GRCm39)	missense	probably damaging	1.00
R9135:Dhx33	UTSW	11	70,877,992 (GRCm39)	missense	probably damaging	0.98
R9721:Dhx33	UTSW	11	70,892,424 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACAGTGGGTGCTGGCTACTTAAAC -3'
(R):5'- AATTTCGGCAAGTGGAATTTGGAGC -3'

Sequencing Primer
(F):5'- GTGCTGGCTACTTAAACAGTACTC -3'
(R):5'- tcctcctatctctgtctgctg -3'

Posted On

2014-05-23