Mutagenetix > Incidental Mutation

Incidental Mutation 'R7248:Dhx38'

563685

Institutional Source

Beutler Lab

Gene Symbol

Dhx38

Ensembl Gene

ENSMUSG00000037993

Gene Name

DEAH-box helicase 38

Synonyms

Ddx38, 5730550P09Rik, Prp16

MMRRC Submission

045311-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R7248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110274643-110292493 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110285559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 425 (T425A)

Ref Sequence

ENSEMBL: ENSMUSP00000047865 (fasta)

Gene Model

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

AlphaFold

Q80X98

Predicted Effect

probably benign
Transcript: ENSMUST00000042601
AA Change: T425A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000047865
Gene: ENSMUSG00000037993
AA Change: T425A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,207,959 (GRCm39)		probably null	Het
Aldh16a1	A	G	7: 44,795,018 (GRCm39)	Y484H	probably damaging	Het
Arhgap26	T	C	18: 39,439,907 (GRCm39)		probably null	Het
Atxn7l1	A	G	12: 33,417,194 (GRCm39)	T452A	probably benign	Het
Baz1a	C	T	12: 54,947,293 (GRCm39)	E1119K	probably damaging	Het
Btaf1	A	T	19: 36,922,714 (GRCm39)	E39D	possibly damaging	Het
Bud13	G	T	9: 46,194,413 (GRCm39)	E29*	probably null	Het
Ccdc150	C	T	1: 54,344,057 (GRCm39)	T530I	probably benign	Het
Chd6	G	A	2: 160,803,199 (GRCm39)	Q2160*	probably null	Het
Cluap1	T	A	16: 3,737,364 (GRCm39)	I172N	possibly damaging	Het
Cnot2	T	C	10: 116,334,278 (GRCm39)	N329S	probably benign	Het
Cog4	A	T	8: 111,608,834 (GRCm39)	T175S	unknown	Het
Coq7	C	A	7: 118,128,897 (GRCm39)	R46L	probably benign	Het
D630045J12Rik	A	T	6: 38,145,198 (GRCm39)	V1276E	probably damaging	Het
Dcaf15	A	G	8: 84,829,394 (GRCm39)	V116A	possibly damaging	Het
Ddr2	C	T	1: 169,822,198 (GRCm39)	V417I	probably benign	Het
Defa25	G	A	8: 21,575,216 (GRCm39)	C65Y	probably damaging	Het
Diaph1	T	C	18: 38,022,829 (GRCm39)	T782A	probably benign	Het
Dnah7b	T	A	1: 46,181,245 (GRCm39)	M1044K	possibly damaging	Het
Dusp16	G	A	6: 134,695,940 (GRCm39)	T297M	probably benign	Het
Esyt2	A	G	12: 116,305,858 (GRCm39)	N363D	probably damaging	Het
Fasl	C	T	1: 161,615,760 (GRCm39)	C32Y	possibly damaging	Het
Flg	T	C	3: 93,189,041 (GRCm39)	V137A	probably benign	Het
Gm57858	T	A	3: 36,080,086 (GRCm39)	T224S	probably benign	Het
Gpr150	G	A	13: 76,204,126 (GRCm39)	A273V	probably benign	Het
Grk5	A	G	19: 60,879,045 (GRCm39)	T10A	probably benign	Het
Hivep2	A	G	10: 14,006,909 (GRCm39)	K1169R	possibly damaging	Het
Ido2	A	C	8: 25,030,657 (GRCm39)	Y224*	probably null	Het
Ido2	A	G	8: 25,038,839 (GRCm39)	I149T	probably damaging	Het
Iqca1l	C	T	5: 24,749,269 (GRCm39)	S743N	probably benign	Het
Kctd2	A	G	11: 115,312,845 (GRCm39)	T126A	possibly damaging	Het
Khdc4	T	C	3: 88,600,886 (GRCm39)	S228P	probably damaging	Het
Kif1a	T	C	1: 92,969,305 (GRCm39)	D1090G	probably benign	Het
Klrb1a	A	T	6: 128,586,697 (GRCm39)	H222Q	possibly damaging	Het
Kndc1	A	C	7: 139,500,699 (GRCm39)	H688P	probably damaging	Het
Lrriq1	C	A	10: 103,059,611 (GRCm39)	V141F	possibly damaging	Het
Malrd1	A	G	2: 16,106,722 (GRCm39)	I1845V	unknown	Het
Mob3c	G	A	4: 115,688,881 (GRCm39)	R138H	probably benign	Het
Mre11a	T	A	9: 14,723,209 (GRCm39)	D394E	possibly damaging	Het
Myh7b	A	T	2: 155,464,106 (GRCm39)	I536F	probably damaging	Het
Nacad	T	A	11: 6,548,589 (GRCm39)	K1382*	probably null	Het
Ncor1	T	C	11: 62,275,598 (GRCm39)	K128R	possibly damaging	Het
Or10am5	T	C	7: 6,517,520 (GRCm39)	N303D	probably damaging	Het
Ostn	T	A	16: 27,165,719 (GRCm39)		probably null	Het
Pacs1	G	A	19: 5,189,003 (GRCm39)	T793I	probably damaging	Het
Pcdhb2	T	C	18: 37,429,547 (GRCm39)	S507P	probably damaging	Het
Pde2a	A	G	7: 101,152,597 (GRCm39)	K393E	possibly damaging	Het
Pfkl	T	A	10: 77,825,423 (GRCm39)	N656Y	probably damaging	Het
Phf20	T	A	2: 156,135,331 (GRCm39)		probably null	Het
Plekha6	G	T	1: 133,203,586 (GRCm39)	E550*	probably null	Het
Plxna4	A	T	6: 32,139,095 (GRCm39)	V1691E	probably damaging	Het
Rag1	A	T	2: 101,472,123 (GRCm39)	H1006Q	probably damaging	Het
Rfx4	C	T	10: 84,740,919 (GRCm39)	P679L	probably benign	Het
Ripor2	A	G	13: 24,878,128 (GRCm39)	H301R	probably damaging	Het
Rrp12	A	T	19: 41,871,877 (GRCm39)	I469N	possibly damaging	Het
Serpinb6b	A	G	13: 33,161,559 (GRCm39)	T211A	probably benign	Het
Sf1	A	T	19: 6,426,383 (GRCm39)	H547L	unknown	Het
Slc29a1	T	C	17: 45,903,108 (GRCm39)	D9G	probably damaging	Het
Sptan1	T	A	2: 29,892,311 (GRCm39)	M1075K	probably benign	Het
Syngap1	A	G	17: 27,176,741 (GRCm39)	D474G	probably damaging	Het
Syt16	C	T	12: 74,313,483 (GRCm39)	R470C	probably damaging	Het
Timeless	A	G	10: 128,087,870 (GRCm39)	T1148A	probably benign	Het
Tmem116	A	T	5: 121,601,899 (GRCm39)		probably null	Het
Tmem158	A	T	9: 123,089,390 (GRCm39)	I74N	probably damaging	Het
Traf5	T	A	1: 191,743,432 (GRCm39)	D174V	probably benign	Het
Trim65	A	T	11: 116,018,534 (GRCm39)	I247N	probably benign	Het
Tsfm	A	T	10: 126,847,500 (GRCm39)	V197E	probably benign	Het
Utrn	A	G	10: 12,604,562 (GRCm39)	C539R	possibly damaging	Het
Vps13a	A	T	19: 16,655,406 (GRCm39)	F1874Y	probably benign	Het
Wdr6	A	G	9: 108,453,238 (GRCm39)	M215T	possibly damaging	Het
Wdr75	T	A	1: 45,856,560 (GRCm39)	W528R	probably damaging	Het
Zc3h7b	A	G	15: 81,655,988 (GRCm39)	D112G	possibly damaging	Het
Zc3hav1	C	T	6: 38,330,911 (GRCm39)	D83N	probably benign	Het
Zfp369	T	A	13: 65,443,931 (GRCm39)	V358E	probably damaging	Het
Zfp946	T	A	17: 22,672,489 (GRCm39)	C29*	probably null	Het
Zng1	A	G	19: 24,898,505 (GRCm39)	S318P	probably 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
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
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
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'- TAATGGCCAGGTCAGAGGTG -3'
(R):5'- AAATGTGGCTGTCCTTGTGTCC -3'

Sequencing Primer
(F):5'- ATCCTTCACTGGGATCACAGG -3'
(R):5'- CCACAGGACAATGAGCGCTG -3'

Posted On

2019-06-26