Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02652:Dhx38'

302205

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhx38

Ensembl Gene

ENSMUSG00000037993

Gene Name

DEAH (Asp-Glu-Ala-His) box polypeptide 38

Synonyms

5730550P09Rik, Ddx38, Prp16

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

IGL02652

Quality Score

Status

Chromosome

Chromosomal Location

109548011-109565861 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109556129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 635 (L635P)

Ref Sequence

ENSEMBL: ENSMUSP00000047865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042601]

AlphaFold

Q80X98

Predicted Effect

probably damaging
Transcript: ENSMUST00000042601
AA Change: L635P

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

SMART Domains

Protein: ENSMUSP00000047865
Gene: ENSMUSG00000037993
AA Change: L635P

Domain	Start	End	E-Value	Type
Blast:DEXDc	3	146	2e-46	BLAST
low complexity region	147	204	N/A	INTRINSIC
Blast:DEXDc	205	444	1e-105	BLAST
low complexity region	511	525	N/A	INTRINSIC
DEXDc	531	715	6.88e-34	SMART
HELICc	759	862	1.11e-19	SMART
HA2	923	1013	3.22e-32	SMART
low complexity region	1163	1194	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212667

Coding Region Coverage

Validation Efficiency

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. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	A	T	17: 67,884,800	D139E	probably benign	Het
Asph	C	T	4: 9,529,984	V347I	probably benign	Het
Ccdc138	A	T	10: 58,513,079	D149V	probably benign	Het
Cep192	A	G	18: 67,858,850		probably benign	Het
Cnnm2	G	A	19: 46,763,211	R480Q	probably damaging	Het
Col24a1	C	A	3: 145,492,301	S1321*	probably null	Het
Cops6	T	G	5: 138,161,438		probably null	Het
Crim1	G	A	17: 78,315,677	A435T	probably damaging	Het
Cttn	G	T	7: 144,441,731	Q382K	probably benign	Het
Dmtf1	T	A	5: 9,121,853	T458S	probably benign	Het
Dnah5	T	C	15: 28,366,187	F2682S	probably damaging	Het
Dnah6	T	A	6: 73,095,104	Q2413L	probably damaging	Het
Dock10	T	C	1: 80,592,844		probably null	Het
Engase	C	T	11: 118,478,950	P63S	probably damaging	Het
Grik4	A	G	9: 42,675,277	V94A	possibly damaging	Het
Heatr6	T	C	11: 83,769,732	V566A	probably damaging	Het
Hydin	A	C	8: 110,589,522	T4349P	possibly damaging	Het
Inpp4b	G	A	8: 81,770,800		probably benign	Het
Mertk	A	G	2: 128,801,270	E863G	probably benign	Het
Muc19	T	A	15: 91,877,815		noncoding transcript	Het
Myo9a	T	A	9: 59,863,928	F928I	probably damaging	Het
Nyap2	T	C	1: 81,241,720	Y486H	probably damaging	Het
Oas1e	T	C	5: 120,795,405	R32G	probably damaging	Het
Olfr113	A	T	17: 37,574,945	Y159*	probably null	Het
Olfr1298	A	G	2: 111,645,494	F168L	probably benign	Het
Osbpl6	G	A	2: 76,593,454	R848Q	probably damaging	Het
Piezo2	G	A	18: 63,024,475	T2388I	probably damaging	Het
Prkdc	A	G	16: 15,783,087	T2871A	probably benign	Het
Ptpn12	T	C	5: 21,002,437	K308E	probably benign	Het
Rgsl1	A	G	1: 153,825,490	L441P	probably damaging	Het
Rictor	T	C	15: 6,776,187		probably null	Het
Scn2a	T	A	2: 65,702,038	S665T	possibly damaging	Het
Scn8a	A	G	15: 101,013,476	I926V	probably damaging	Het
Snrpg	T	C	6: 86,376,528	I30T	probably damaging	Het
Spryd3	A	T	15: 102,118,990		probably null	Het
Svil	A	G	18: 5,114,531	D2036G	probably damaging	Het
Synj2	A	T	17: 6,017,593	I551F	probably damaging	Het
Tiam2	A	T	17: 3,439,696		probably benign	Het
Tmem132b	T	C	5: 125,787,575	F915S	probably damaging	Het
Try5	C	A	6: 41,311,408	V204L	probably benign	Het
Vmn2r6	T	C	3: 64,556,328	T362A	probably benign	Het

Other mutations in Dhx38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Dhx38	APN	8	109556934	missense	possibly damaging	0.49
IGL00821:Dhx38	APN	8	109555654	missense	probably benign	0.00
IGL00910:Dhx38	APN	8	109559034	missense	probably benign	0.07
IGL01011:Dhx38	APN	8	109562691	missense	probably benign
IGL01401:Dhx38	APN	8	109552114	missense	probably benign	0.15
IGL02133:Dhx38	APN	8	109558241	nonsense	probably null
IGL02529:Dhx38	APN	8	109559013	missense	probably benign	0.00
IGL03241:Dhx38	APN	8	109562656	missense	possibly damaging	0.47
IGL03378:Dhx38	APN	8	109559090	splice site	probably null
R0358:Dhx38	UTSW	8	109552462	missense	probably benign	0.13
R0375:Dhx38	UTSW	8	109555181	missense	possibly damaging	0.89
R0437:Dhx38	UTSW	8	109558629	splice site	probably benign
R0481:Dhx38	UTSW	8	109556216	splice site	probably benign
R0492:Dhx38	UTSW	8	109561944	splice site	probably benign
R0528:Dhx38	UTSW	8	109562661	missense	probably benign	0.00
R0607:Dhx38	UTSW	8	109558943	missense	probably benign	0.07
R1638:Dhx38	UTSW	8	109553545	missense	probably damaging	1.00
R2020:Dhx38	UTSW	8	109556869	splice site	probably benign
R2056:Dhx38	UTSW	8	109562720	unclassified	probably benign
R2096:Dhx38	UTSW	8	109554259	missense	probably damaging	1.00
R2152:Dhx38	UTSW	8	109560674	missense	probably benign	0.00
R2154:Dhx38	UTSW	8	109560674	missense	probably benign	0.00
R2382:Dhx38	UTSW	8	109556140	missense	probably damaging	0.99
R4367:Dhx38	UTSW	8	109553131	missense	probably damaging	1.00
R4368:Dhx38	UTSW	8	109553131	missense	probably damaging	1.00
R4369:Dhx38	UTSW	8	109553131	missense	probably damaging	1.00
R5250:Dhx38	UTSW	8	109556520	missense	probably damaging	1.00
R5354:Dhx38	UTSW	8	109555746	missense	probably damaging	1.00
R5668:Dhx38	UTSW	8	109553416	missense	probably damaging	1.00
R5777:Dhx38	UTSW	8	109556902	missense	possibly damaging	0.81
R5784:Dhx38	UTSW	8	109559613	nonsense	probably null
R6799:Dhx38	UTSW	8	109553202	missense	probably damaging	1.00
R6915:Dhx38	UTSW	8	109559599	missense	probably benign	0.15
R6932:Dhx38	UTSW	8	109552675	missense	probably damaging	1.00
R7042:Dhx38	UTSW	8	109556985	missense	possibly damaging	0.55
R7248:Dhx38	UTSW	8	109558927	missense	probably benign	0.15
R7394:Dhx38	UTSW	8	109556523	missense	probably damaging	1.00
R7513:Dhx38	UTSW	8	109560589	missense	probably benign	0.00
R7569:Dhx38	UTSW	8	109560695	missense	probably damaging	0.98
R8003:Dhx38	UTSW	8	109556140	missense	probably damaging	0.99
R8071:Dhx38	UTSW	8	109558701	missense	probably benign	0.10
R8537:Dhx38	UTSW	8	109553380	missense	probably damaging	1.00
R8852:Dhx38	UTSW	8	109562729	nonsense	probably null
R8860:Dhx38	UTSW	8	109562729	nonsense	probably null
R8937:Dhx38	UTSW	8	109556466	missense	probably damaging	0.96
R9099:Dhx38	UTSW	8	109556151	missense	probably damaging	1.00
Z1177:Dhx38	UTSW	8	109556085	missense	probably benign	0.00

Posted On

2015-04-16