Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Dhx33'

32656

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

038308-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0013 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70874917-70895258 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70884461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 448 (F448L)

Ref Sequence

ENSEMBL: ENSMUSP00000104167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108527] [ENSMUST00000124464] [ENSMUST00000155044]

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: F448L

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

SMART Domains

Protein: ENSMUSP00000104167
Gene: ENSMUSG00000040620
AA Change: F448L

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 damaging
Transcript: ENSMUST00000124464
AA Change: F224L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136051
Gene: ENSMUSG00000040620
AA Change: F224L

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

unknown
Transcript: ENSMUST00000146203
AA Change: F62L

Predicted Effect

probably benign
Transcript: ENSMUST00000155044

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178111

Meta Mutation Damage Score

0.9421

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,293,346 (GRCm39)	M156V	probably benign	Het
Adnp2	A	T	18: 80,172,960 (GRCm39)	V483D	probably damaging	Het
Aff1	G	T	5: 103,976,350 (GRCm39)	E491*	probably null	Het
Agl	A	T	3: 116,570,257 (GRCm39)	C911*	probably null	Het
Akt2	A	G	7: 27,335,483 (GRCm39)	D284G	probably damaging	Het
Alox15	A	G	11: 70,240,461 (GRCm39)	M240T	possibly damaging	Het
Antxr2	A	G	5: 98,127,844 (GRCm39)	V229A	probably damaging	Het
Arap2	G	A	5: 62,840,827 (GRCm39)	L680F	probably damaging	Het
Btaf1	A	G	19: 36,935,773 (GRCm39)	T188A	probably benign	Het
Btnl6	G	A	17: 34,734,505 (GRCm39)	Q86*	probably null	Het
C2cd3	T	A	7: 100,065,269 (GRCm39)	L685H	probably damaging	Het
Cdh23	T	C	10: 60,248,952 (GRCm39)	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,179,108 (GRCm39)	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,405,043 (GRCm39)	T2500S	possibly damaging	Het
Def6	A	G	17: 28,436,066 (GRCm39)	Y75C	probably damaging	Het
Dner	C	T	1: 84,472,614 (GRCm39)		probably benign	Het
Dnmbp	G	A	19: 43,890,670 (GRCm39)	P366S	probably benign	Het
Eif4g3	T	C	4: 137,903,159 (GRCm39)	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,820,185 (GRCm39)		probably benign	Het
Faah	C	A	4: 115,861,588 (GRCm39)	L305F	probably damaging	Het
Flt1	A	G	5: 147,507,824 (GRCm39)		probably benign	Het
Fyco1	A	T	9: 123,651,471 (GRCm39)	N1196K	probably benign	Het
Galnt18	T	C	7: 111,153,664 (GRCm39)	N320S	probably damaging	Het
Garin3	A	G	11: 46,297,631 (GRCm39)	T312A	unknown	Het
Glp2r	C	A	11: 67,600,538 (GRCm39)	G437V	possibly damaging	Het
Gm4884	T	C	7: 40,693,716 (GRCm39)	S562P	probably damaging	Het
Gm9936	A	G	5: 114,995,408 (GRCm39)		probably benign	Het
Gpn2	C	A	4: 133,312,103 (GRCm39)	P112T	probably damaging	Het
Grm4	A	G	17: 27,650,549 (GRCm39)	Y816H	probably benign	Het
Helz2	A	T	2: 180,882,752 (GRCm39)	S14T	probably benign	Het
Htt	T	C	5: 34,977,448 (GRCm39)	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060 (GRCm39)	S129P	probably damaging	Het
Ints11	T	C	4: 155,971,625 (GRCm39)	F315S	probably damaging	Het
Itga11	A	T	9: 62,683,895 (GRCm39)	N1059Y	possibly damaging	Het
Jak3	A	G	8: 72,136,971 (GRCm39)	S716G	probably damaging	Het
Kcns1	G	T	2: 164,010,563 (GRCm39)	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715 (GRCm39)	K1305N	probably benign	Het
Kif26a	G	T	12: 112,144,314 (GRCm39)	V1523L	probably benign	Het
Mboat7	A	G	7: 3,686,821 (GRCm39)	S340P	probably damaging	Het
Mctp2	T	C	7: 71,879,156 (GRCm39)	I234V	probably benign	Het
Mex3c	G	A	18: 73,723,622 (GRCm39)	A572T	probably benign	Het
Mpp3	C	A	11: 101,896,251 (GRCm39)	R424L	probably benign	Het
Mroh4	T	A	15: 74,480,086 (GRCm39)		probably benign	Het
Myo9a	A	T	9: 59,767,489 (GRCm39)		probably benign	Het
Myog	T	A	1: 134,217,973 (GRCm39)	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,270,650 (GRCm39)		probably null	Het
Notch1	A	G	2: 26,363,830 (GRCm39)	V868A	possibly damaging	Het
Or10g9b	A	T	9: 39,917,651 (GRCm39)	I198N	probably damaging	Het
Or1j20	A	G	2: 36,760,172 (GRCm39)	N198S	probably damaging	Het
Or1p1	T	A	11: 74,179,877 (GRCm39)	I135N	possibly damaging	Het
Or5d18	T	C	2: 87,864,610 (GRCm39)	Y291C	possibly damaging	Het
Pink1	T	C	4: 138,044,712 (GRCm39)	T342A	probably benign	Het
Plb1	T	A	5: 32,506,959 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,062,446 (GRCm39)	D2524G	probably damaging	Het
Plekhg4	G	T	8: 106,102,028 (GRCm39)	E6*	probably null	Het
Polq	T	C	16: 36,882,201 (GRCm39)	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,139,884 (GRCm39)		probably benign	Het
Prkaca	G	A	8: 84,714,932 (GRCm39)	M119I	possibly damaging	Het
Prss46	G	T	9: 110,679,123 (GRCm39)	S108I	probably damaging	Het
Ptma	C	T	1: 86,457,498 (GRCm39)		probably benign	Het
Rab11fip4	C	T	11: 79,580,479 (GRCm39)	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409 (GRCm39)	M437K	probably benign	Het
Rrn3	T	A	16: 13,630,977 (GRCm39)	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,239,231 (GRCm39)		probably benign	Het
Sis	A	G	3: 72,817,809 (GRCm39)	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,598,745 (GRCm39)	M1450V	probably benign	Het
Smg5	T	C	3: 88,256,540 (GRCm39)	S269P	probably benign	Het
Sntg1	T	C	1: 8,533,686 (GRCm39)	T323A	probably damaging	Het
Son	C	T	16: 91,448,550 (GRCm39)	T37I	probably damaging	Het
Stk17b	T	C	1: 53,803,291 (GRCm39)	I41M	probably benign	Het
Tgm5	T	A	2: 120,907,363 (GRCm39)	Y120F	probably damaging	Het
Tppp	A	G	13: 74,169,479 (GRCm39)	K73R	possibly damaging	Het
Ttn	C	A	2: 76,569,502 (GRCm39)	K27130N	probably damaging	Het
Ttn	C	T	2: 76,738,096 (GRCm39)	V4148I	probably benign	Het
Tut4	T	A	4: 108,388,152 (GRCm39)		probably benign	Het
Uba7	A	T	9: 107,855,448 (GRCm39)	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931 (GRCm39)	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,453,872 (GRCm39)		probably benign	Het
Zfp839	T	A	12: 110,834,820 (GRCm39)	S692T	possibly damaging	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
R1544:Dhx33	UTSW	11	70,890,354 (GRCm39)	missense	probably damaging	1.00
R1782:Dhx33	UTSW	11	70,892,466 (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'- TGGTCCCTGCACAAAGCACTATAAC -3'
(R):5'- TGGCATCTGCTACCGACTCTACAC -3'

Sequencing Primer
(F):5'- TGCACAAAGCACTATAACATGGAATC -3'
(R):5'- CTCTACACTGAGGACGAGTTTGAG -3'

Posted On

2013-05-09