Mutagenetix > Incidental Mutation

Incidental Mutation 'R5668:Dhx38'

442449

Institutional Source

Beutler Lab

Gene Symbol

Dhx38

Ensembl Gene

ENSMUSG00000037993

Gene Name

DEAH-box helicase 38

Synonyms

Ddx38, 5730550P09Rik, Prp16

MMRRC Submission

043311-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R5668 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110274643-110292493 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110280048 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 914 (D914G)

Ref Sequence

ENSEMBL: ENSMUSP00000047865 (fasta)

Gene Model

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

AlphaFold

Q80X98

Predicted Effect

probably damaging
Transcript: ENSMUST00000042601
AA Change: D914G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047865
Gene: ENSMUSG00000037993
AA Change: D914G

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

Meta Mutation Damage Score

0.9076

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (84/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,603,975 (GRCm39)	W429R	probably damaging	Het
Afg1l	C	T	10: 42,236,236 (GRCm39)	C272Y	probably damaging	Het
Agrn	T	C	4: 156,251,770 (GRCm39)	T1831A	probably damaging	Het
Aifm2	T	C	10: 61,561,696 (GRCm39)	V14A	probably damaging	Het
Angptl3	A	T	4: 98,920,321 (GRCm39)		probably null	Het
Arfgap1	A	T	2: 180,615,912 (GRCm39)	D197V	possibly damaging	Het
Atp1a3	T	C	7: 24,678,294 (GRCm39)		probably benign	Het
Brwd1	T	C	16: 95,817,350 (GRCm39)	I1387M	probably damaging	Het
Cavin4	A	G	4: 48,672,499 (GRCm39)	T315A	probably benign	Het
Cep128	T	C	12: 90,966,410 (GRCm39)	T1066A	probably benign	Het
Cln3	T	C	7: 126,171,558 (GRCm39)	T376A	probably benign	Het
Cntn4	A	T	6: 106,656,397 (GRCm39)		silent	Het
Colec12	T	A	18: 9,848,963 (GRCm39)	D380E	probably damaging	Het
Csmd3	T	C	15: 47,559,151 (GRCm39)	I2371V	possibly damaging	Het
Cspg4b	A	G	13: 113,453,701 (GRCm39)	S55G	possibly damaging	Het
Cxcl3	T	C	5: 90,935,299 (GRCm39)	S99P	unknown	Het
Ddx60	A	G	8: 62,453,612 (GRCm39)	R1244G	probably benign	Het
Dlc1	T	G	8: 37,404,655 (GRCm39)		probably benign	Het
Eif4a3l1	A	T	6: 136,306,393 (GRCm39)	I264F	probably benign	Het
Fam161b	A	G	12: 84,403,124 (GRCm39)	S169P	probably damaging	Het
Fastkd1	A	G	2: 69,537,725 (GRCm39)	S286P	possibly damaging	Het
Fmn2	A	T	1: 174,409,603 (GRCm39)	E612V	unknown	Het
Foxb1	T	A	9: 69,667,528 (GRCm39)	M1L	probably damaging	Het
Gm14412	A	T	2: 177,007,402 (GRCm39)	C164*	probably null	Het
Gm43302	T	A	5: 105,423,678 (GRCm39)	M432L	probably benign	Het
Gm4353	C	A	7: 115,682,913 (GRCm39)	A223S	probably damaging	Het
Gpatch8	T	C	11: 102,391,693 (GRCm39)	K143R	unknown	Het
Gpr15	A	G	16: 58,538,013 (GRCm39)	S359P	probably damaging	Het
Gucy2e	A	G	11: 69,119,207 (GRCm39)	L649P	probably damaging	Het
H2-M10.5	C	A	17: 37,085,473 (GRCm39)	H211N	probably damaging	Het
Hs6st1	T	C	1: 36,142,970 (GRCm39)	Y302H	probably damaging	Het
Khdrbs2	A	T	1: 32,506,851 (GRCm39)	D165V	probably damaging	Het
Klra13-ps	T	G	6: 130,281,246 (GRCm39)		noncoding transcript	Het
Lrrc37	T	A	11: 103,507,880 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,391,001 (GRCm39)	T1475S	probably benign	Het
Ly75	A	G	2: 60,184,844 (GRCm39)	S437P	probably damaging	Het
Maz	C	T	7: 126,624,494 (GRCm39)	C342Y	probably damaging	Het
Mcf2l	C	A	8: 13,063,812 (GRCm39)	S1008*	probably null	Het
Mcmbp	T	C	7: 128,314,478 (GRCm39)	D246G	probably benign	Het
Mipol1	G	A	12: 57,372,346 (GRCm39)	R135H	possibly damaging	Het
Mycbp2	T	A	14: 103,357,955 (GRCm39)	Y4613F	possibly damaging	Het
Nup188	G	A	2: 30,226,336 (GRCm39)	A1118T	probably damaging	Het
Or10g6	A	T	9: 39,933,964 (GRCm39)	I92F	probably damaging	Het
Or2k2	T	A	4: 58,785,489 (GRCm39)	I78F	probably benign	Het
Or4a76	G	A	2: 89,460,688 (GRCm39)	L185F	probably damaging	Het
Or4c121	A	T	2: 89,024,170 (GRCm39)	D69E	possibly damaging	Het
Or4z4	A	G	19: 12,076,290 (GRCm39)	S238P	probably damaging	Het
Or51f1e	A	T	7: 102,747,103 (GRCm39)	S52C	probably benign	Het
Or51h7	T	C	7: 102,591,128 (GRCm39)	K219E	probably benign	Het
P3h1	T	A	4: 119,101,243 (GRCm39)	I460N	possibly damaging	Het
Pcnt	T	C	10: 76,245,334 (GRCm39)	D1101G	probably benign	Het
Phlpp2	C	A	8: 110,655,205 (GRCm39)	Q667K	possibly damaging	Het
Plec	A	G	15: 76,074,666 (GRCm39)	F434L	possibly damaging	Het
Ppp6r2	T	A	15: 89,164,602 (GRCm39)	I602N	probably damaging	Het
Rdh8	A	C	9: 20,736,475 (GRCm39)	I181L	probably benign	Het
Rnf181	A	G	6: 72,338,505 (GRCm39)	M1T	probably null	Het
Rpl29-ps2	A	G	13: 4,664,221 (GRCm39)		noncoding transcript	Het
Sart3	A	G	5: 113,883,217 (GRCm39)		probably null	Het
Sec14l2	A	C	11: 4,059,189 (GRCm39)	L160R	probably damaging	Het
Senp1	C	T	15: 97,946,236 (GRCm39)	R503H	probably damaging	Het
Shoc1	A	G	4: 59,047,399 (GRCm39)	S1407P	probably benign	Het
Slc22a2	T	C	17: 12,827,296 (GRCm39)	V316A	probably benign	Het
Slc34a1	A	T	13: 55,556,898 (GRCm39)	I365F	possibly damaging	Het
Spag5	T	C	11: 78,195,542 (GRCm39)	V283A	possibly damaging	Het
Srebf2	C	T	15: 82,076,456 (GRCm39)	T702I	probably benign	Het
Sun3	A	G	11: 8,981,433 (GRCm39)		probably null	Het
Syt6	A	G	3: 103,528,217 (GRCm39)	Y312C	probably damaging	Het
Tas2r121	T	A	6: 132,677,756 (GRCm39)	Y72F	possibly damaging	Het
Tfrc	A	G	16: 32,442,194 (GRCm39)	Y473C	probably damaging	Het
Trp63	C	T	16: 25,684,935 (GRCm39)	A274V	possibly damaging	Het
Trpm5	T	C	7: 142,626,966 (GRCm39)	D1085G	probably benign	Het
Ttn	A	G	2: 76,745,008 (GRCm39)	V5347A	probably benign	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Vma21-ps	T	A	4: 52,496,946 (GRCm39)	Q100L	possibly damaging	Het
Vmn2r22	T	C	6: 123,614,873 (GRCm39)	N239S	probably benign	Het
Wfdc8	T	C	2: 164,439,339 (GRCm39)		probably benign	Het
Xkr4	T	A	1: 3,741,258 (GRCm39)	Y105F	probably damaging	Het
Xpo7	C	T	14: 70,920,286 (GRCm39)	V627I	possibly damaging	Het
Zfp606	T	C	7: 12,226,479 (GRCm39)	V200A	probably benign	Het
Zfp936	A	T	7: 42,839,858 (GRCm39)	S441C	possibly damaging	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
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
R6932:Dhx38	UTSW	8	110,279,307 (GRCm39)	missense	probably damaging	1.00
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'- CGATGAGCATCTTAGAGAGGGC -3'
(R):5'- AGCTAACACGTGAGAGGCTG -3'

Sequencing Primer
(F):5'- ATCTTAGAGAGGGCCGGGTC -3'
(R):5'- CACGTGAGAGGCTGGCAGG -3'

Posted On

2016-11-09