Mutagenetix > Incidental Mutation

Incidental Mutation 'R6932:Dhx38'

540103

Institutional Source

Beutler Lab

Gene Symbol

Dhx38

Ensembl Gene

ENSMUSG00000037993

Gene Name

DEAH-box helicase 38

Synonyms

Ddx38, 5730550P09Rik, Prp16

MMRRC Submission

045047-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R6932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110274643-110292493 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110279307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1013 (L1013Q)

Ref Sequence

ENSEMBL: ENSMUSP00000047865 (fasta)

Gene Model

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

AlphaFold

Q80X98

Predicted Effect

probably damaging
Transcript: ENSMUST00000042601
AA Change: L1013Q

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

SMART Domains

Protein: ENSMUSP00000047865
Gene: ENSMUSG00000037993
AA Change: L1013Q

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

Meta Mutation Damage Score

0.9540

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

98% (80/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,250,331 (GRCm39)	F198I	probably damaging	Het
Acy1	A	G	9: 106,314,826 (GRCm39)		probably null	Het
Adk	A	G	14: 21,126,376 (GRCm39)	M1V	probably null	Het
Ahi1	A	G	10: 20,839,590 (GRCm39)	D167G	probably benign	Het
Ankrd16	T	C	2: 11,791,054 (GRCm39)	V290A	possibly damaging	Het
Arhgef5	T	A	6: 43,251,351 (GRCm39)	S701T	possibly damaging	Het
Atp13a5	C	A	16: 29,100,769 (GRCm39)	M673I	probably damaging	Het
BC005624	T	C	2: 30,868,940 (GRCm39)	D78G	possibly damaging	Het
Bcat2	C	T	7: 45,238,745 (GRCm39)	H347Y	probably damaging	Het
Bpifb4	A	G	2: 153,784,547 (GRCm39)	Y85C	possibly damaging	Het
Cdc42	T	A	4: 137,049,932 (GRCm39)		probably null	Het
Cep170	G	A	1: 176,589,003 (GRCm39)	L541F	possibly damaging	Het
Cfap97d2	CA	CAA	8: 13,784,865 (GRCm39)		probably null	Het
Cgrrf1	T	A	14: 47,091,179 (GRCm39)	N234K	probably benign	Het
Ctrc	C	T	4: 141,568,879 (GRCm39)	C108Y	probably damaging	Het
Cyp2u1	C	T	3: 131,091,945 (GRCm39)	V192M	possibly damaging	Het
Dnah1	T	A	14: 31,009,733 (GRCm39)	N1945I	probably damaging	Het
Dnah10	C	G	5: 124,898,514 (GRCm39)	N3765K	possibly damaging	Het
Dnah17	C	A	11: 117,950,905 (GRCm39)	R2906L	possibly damaging	Het
Dnajc10	C	T	2: 80,161,680 (GRCm39)	T306I	probably benign	Het
Efemp2	T	A	19: 5,530,273 (GRCm39)	C287S	probably damaging	Het
Efna1	T	C	3: 89,180,091 (GRCm39)	R143G	probably benign	Het
Emilin1	A	C	5: 31,074,421 (GRCm39)	N221H	probably damaging	Het
Epg5	A	G	18: 77,991,824 (GRCm39)	T174A	probably benign	Het
Fam184b	T	A	5: 45,690,243 (GRCm39)		probably null	Het
Fchsd2	T	A	7: 100,926,621 (GRCm39)	C570*	probably null	Het
Gm4787	A	T	12: 81,425,974 (GRCm39)	D61E	probably benign	Het
Gm7356	C	T	17: 14,221,925 (GRCm39)	G35R	probably damaging	Het
Gm8220	A	G	14: 44,525,645 (GRCm39)	T20A	probably damaging	Het
Hivep2	C	T	10: 14,004,245 (GRCm39)	T281M	probably damaging	Het
Ighv2-9-1	A	G	12: 113,733,692 (GRCm39)	V43A	probably damaging	Het
Klhl33	A	T	14: 51,129,373 (GRCm39)	C619S	probably benign	Het
Kmt2a	A	T	9: 44,740,558 (GRCm39)		probably benign	Het
Lax1	A	G	1: 133,607,896 (GRCm39)	C282R	probably benign	Het
Lrrd1	A	G	5: 3,901,395 (GRCm39)	K567E	probably benign	Het
Luzp1	C	T	4: 136,268,124 (GRCm39)	R116*	probably null	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Macrod2	A	T	2: 140,261,833 (GRCm39)	N38I	probably damaging	Het
Map3k14	A	T	11: 103,132,958 (GRCm39)	I80N	probably damaging	Het
Mcm9	A	G	10: 53,496,299 (GRCm39)	S368P	probably benign	Het
Mfge8	T	C	7: 78,793,049 (GRCm39)	D139G	probably benign	Het
Mmp19	A	T	10: 128,627,523 (GRCm39)	I54F	probably benign	Het
Myo15a	G	T	11: 60,390,320 (GRCm39)	W2114L	probably damaging	Het
Myo1a	G	T	10: 127,546,327 (GRCm39)	V277L	probably benign	Het
Myoc	A	G	1: 162,466,915 (GRCm39)	D28G	probably damaging	Het
Myrf	G	T	19: 10,196,924 (GRCm39)	N487K	probably damaging	Het
Omd	T	A	13: 49,743,710 (GRCm39)	F253L	probably damaging	Het
Or2ag19	G	T	7: 106,444,009 (GRCm39)	G64*	probably null	Het
Or5t5	C	G	2: 86,616,499 (GRCm39)	L142V	probably damaging	Het
Or6n1	G	A	1: 173,917,316 (GRCm39)	A237T	probably damaging	Het
Papss1	T	G	3: 131,305,732 (GRCm39)	I238S	probably damaging	Het
Pkhd1	A	T	1: 20,632,675 (GRCm39)	F580Y	probably benign	Het
Polk	T	A	13: 96,653,189 (GRCm39)	K70N	probably damaging	Het
Ppig	T	A	2: 69,562,755 (GRCm39)	D31E	probably benign	Het
Ppp6r1	G	T	7: 4,636,291 (GRCm39)	S766R	possibly damaging	Het
Rab11fip5	T	C	6: 85,318,540 (GRCm39)	D783G	probably benign	Het
Reln	T	C	5: 22,190,855 (GRCm39)	I1511V	probably benign	Het
Rnh1	T	C	7: 140,743,096 (GRCm39)	N268S	probably damaging	Het
Rpia	A	G	6: 70,750,424 (GRCm39)	V236A	probably benign	Het
Rpl10a	G	T	17: 28,548,424 (GRCm39)	V80L	probably benign	Het
Sap130	T	G	18: 31,799,407 (GRCm39)	S295A	possibly damaging	Het
Sgms1	C	T	19: 32,120,193 (GRCm39)	V238I	probably benign	Het
Sh3tc1	A	G	5: 35,864,778 (GRCm39)	S470P	probably benign	Het
Slc25a32	A	G	15: 38,960,984 (GRCm39)	V233A	possibly damaging	Het
Slc2a2	T	C	3: 28,771,668 (GRCm39)	S158P	probably benign	Het
Slc6a2	A	G	8: 93,722,653 (GRCm39)	Y550C	probably benign	Het
Slc7a9	C	A	7: 35,151,936 (GRCm39)	T77K	probably benign	Het
Snd1	A	T	6: 28,626,100 (GRCm39)	D385V	probably benign	Het
Ssh3	A	T	19: 4,314,448 (GRCm39)	F369I	probably damaging	Het
Syk	A	G	13: 52,766,495 (GRCm39)		probably null	Het
Tbc1d16	A	G	11: 119,099,742 (GRCm39)	S211P	probably damaging	Het
Ttc3	A	G	16: 94,244,312 (GRCm39)	T1439A	probably benign	Het
Usp18	A	G	6: 121,229,473 (GRCm39)	M31V	probably benign	Het
Vav1	G	T	17: 57,609,330 (GRCm39)	E415D	possibly damaging	Het
Vps13a	A	T	19: 16,655,439 (GRCm39)	V1863D	probably benign	Het
Xdh	T	A	17: 74,229,557 (GRCm39)	I299F	probably damaging	Het
Zc3h14	A	G	12: 98,737,336 (GRCm39)		probably benign	Het
Zfp345	G	A	2: 150,315,331 (GRCm39)	H69Y	probably damaging	Het
Zfp652	G	T	11: 95,654,667 (GRCm39)	V357L	probably benign	Het
Zfp712	A	T	13: 67,188,891 (GRCm39)	Y545*	probably null	Het
Zgrf1	T	C	3: 127,353,281 (GRCm39)		probably null	Het

Other mutations in Dhx38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Dhx38	APN	8	110,283,566 (GRCm39)	missense	possibly damaging	0.49
IGL00821:Dhx38	APN	8	110,282,286 (GRCm39)	missense	probably benign	0.00
IGL00910:Dhx38	APN	8	110,285,666 (GRCm39)	missense	probably benign	0.07
IGL01011:Dhx38	APN	8	110,289,323 (GRCm39)	missense	probably benign
IGL01401:Dhx38	APN	8	110,278,746 (GRCm39)	missense	probably benign	0.15
IGL02133:Dhx38	APN	8	110,284,873 (GRCm39)	nonsense	probably null
IGL02529:Dhx38	APN	8	110,285,645 (GRCm39)	missense	probably benign	0.00
IGL02652:Dhx38	APN	8	110,282,761 (GRCm39)	missense	probably damaging	1.00
IGL03241:Dhx38	APN	8	110,289,288 (GRCm39)	missense	possibly damaging	0.47
IGL03378:Dhx38	APN	8	110,285,722 (GRCm39)	splice site	probably null
R0358:Dhx38	UTSW	8	110,279,094 (GRCm39)	missense	probably benign	0.13
R0375:Dhx38	UTSW	8	110,281,813 (GRCm39)	missense	possibly damaging	0.89
R0437:Dhx38	UTSW	8	110,285,261 (GRCm39)	splice site	probably benign
R0481:Dhx38	UTSW	8	110,282,848 (GRCm39)	splice site	probably benign
R0492:Dhx38	UTSW	8	110,288,576 (GRCm39)	splice site	probably benign
R0528:Dhx38	UTSW	8	110,289,293 (GRCm39)	missense	probably benign	0.00
R0607:Dhx38	UTSW	8	110,285,575 (GRCm39)	missense	probably benign	0.07
R1638:Dhx38	UTSW	8	110,280,177 (GRCm39)	missense	probably damaging	1.00
R2020:Dhx38	UTSW	8	110,283,501 (GRCm39)	splice site	probably benign
R2056:Dhx38	UTSW	8	110,289,352 (GRCm39)	unclassified	probably benign
R2096:Dhx38	UTSW	8	110,280,891 (GRCm39)	missense	probably damaging	1.00
R2152:Dhx38	UTSW	8	110,287,306 (GRCm39)	missense	probably benign	0.00
R2154:Dhx38	UTSW	8	110,287,306 (GRCm39)	missense	probably benign	0.00
R2382:Dhx38	UTSW	8	110,282,772 (GRCm39)	missense	probably damaging	0.99
R4367:Dhx38	UTSW	8	110,279,763 (GRCm39)	missense	probably damaging	1.00
R4368:Dhx38	UTSW	8	110,279,763 (GRCm39)	missense	probably damaging	1.00
R4369:Dhx38	UTSW	8	110,279,763 (GRCm39)	missense	probably damaging	1.00
R5250:Dhx38	UTSW	8	110,283,152 (GRCm39)	missense	probably damaging	1.00
R5354:Dhx38	UTSW	8	110,282,378 (GRCm39)	missense	probably damaging	1.00
R5668:Dhx38	UTSW	8	110,280,048 (GRCm39)	missense	probably damaging	1.00
R5777:Dhx38	UTSW	8	110,283,534 (GRCm39)	missense	possibly damaging	0.81
R5784:Dhx38	UTSW	8	110,286,245 (GRCm39)	nonsense	probably null
R6799:Dhx38	UTSW	8	110,279,834 (GRCm39)	missense	probably damaging	1.00
R6915:Dhx38	UTSW	8	110,286,231 (GRCm39)	missense	probably benign	0.15
R7042:Dhx38	UTSW	8	110,283,617 (GRCm39)	missense	possibly damaging	0.55
R7248:Dhx38	UTSW	8	110,285,559 (GRCm39)	missense	probably benign	0.15
R7394:Dhx38	UTSW	8	110,283,155 (GRCm39)	missense	probably damaging	1.00
R7513:Dhx38	UTSW	8	110,287,221 (GRCm39)	missense	probably benign	0.00
R7569:Dhx38	UTSW	8	110,287,327 (GRCm39)	missense	probably damaging	0.98
R8003:Dhx38	UTSW	8	110,282,772 (GRCm39)	missense	probably damaging	0.99
R8071:Dhx38	UTSW	8	110,285,333 (GRCm39)	missense	probably benign	0.10
R8537:Dhx38	UTSW	8	110,280,012 (GRCm39)	missense	probably damaging	1.00
R8852:Dhx38	UTSW	8	110,289,361 (GRCm39)	nonsense	probably null
R8860:Dhx38	UTSW	8	110,289,361 (GRCm39)	nonsense	probably null
R8937:Dhx38	UTSW	8	110,283,098 (GRCm39)	missense	probably damaging	0.96
R9099:Dhx38	UTSW	8	110,282,783 (GRCm39)	missense	probably damaging	1.00
Z1177:Dhx38	UTSW	8	110,282,717 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCGCTGCTGCACCATAATATC -3'
(R):5'- TAGGCATATTGATGTGAGCAGG -3'

Sequencing Primer
(F):5'- ATAATATCCTTAAGCTGGGCCCG -3'
(R):5'- TGAGCAGGTATAGTGTGAGACTC -3'

Posted On

2018-11-06