Mutagenetix > Incidental Mutation

Incidental Mutation 'R1550:Dhx40'

169866

Institutional Source

Beutler Lab

Gene Symbol

Dhx40

Ensembl Gene

ENSMUSG00000018425

Gene Name

DEAH-box helicase 40

Synonyms

2410016C14Rik, ARG147, DDX40

MMRRC Submission

039589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1550 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86659672-86698572 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 86667565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018569] [ENSMUST00000148263]

AlphaFold

Q6PE54

Predicted Effect

probably null
Transcript: ENSMUST00000018569

SMART Domains

Protein: ENSMUSP00000018569
Gene: ENSMUSG00000018425

Domain	Start	End	E-Value	Type
DEXDc	47	240	6.32e-33	SMART
HELICc	283	401	3.08e-13	SMART
HA2	462	557	1.92e-21	SMART
Pfam:OB_NTP_bind	588	699	1.7e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000148263

SMART Domains

Protein: ENSMUSP00000114918
Gene: ENSMUSG00000018425

Domain	Start	End	E-Value	Type
Blast:DEXDc	1	96	3e-60	BLAST
SCOP:d1a1va1	4	59	5e-7	SMART
HA2	164	259	1.92e-21	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.2%

Validation Efficiency

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 DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,654,668 (GRCm39)	V551A	probably benign	Het
Acss1	A	T	2: 150,484,715 (GRCm39)	L176Q	probably damaging	Het
Aldh7a1	A	G	18: 56,683,454 (GRCm39)	I117T	possibly damaging	Het
Arf5	C	T	6: 28,426,152 (GRCm39)	R180C	probably damaging	Het
Arhgap21	A	T	2: 20,886,576 (GRCm39)	Y39*	probably null	Het
Arrdc1	A	G	2: 24,816,351 (GRCm39)	L206P	probably damaging	Het
Cby3	A	T	11: 50,250,313 (GRCm39)	Y173F	probably damaging	Het
Cdh18	T	A	15: 23,436,634 (GRCm39)	C497S	probably damaging	Het
Cyp11b2	T	C	15: 74,725,442 (GRCm39)	I226V	probably benign	Het
Ddit4l	T	A	3: 137,330,036 (GRCm39)		probably null	Het
Ddx11	C	T	17: 66,445,215 (GRCm39)	T405I	probably benign	Het
Dlgap2	A	G	8: 14,872,499 (GRCm39)	D659G	probably damaging	Het
Eef2	A	G	10: 81,016,681 (GRCm39)	E586G	probably benign	Het
Fam161a	A	G	11: 22,970,470 (GRCm39)	Q216R	possibly damaging	Het
Fbxw24	G	T	9: 109,436,112 (GRCm39)	R307S	probably benign	Het
Gbp2b	G	T	3: 142,312,591 (GRCm39)	A325S	probably damaging	Het
Gli1	A	T	10: 127,174,385 (GRCm39)	F2Y	probably damaging	Het
Gnl2	T	C	4: 124,938,027 (GRCm39)	V269A	probably damaging	Het
Grin1	A	G	2: 25,195,143 (GRCm39)	V292A	probably benign	Het
Heg1	T	A	16: 33,555,923 (GRCm39)	V1001E	probably damaging	Het
Herc2	T	A	7: 55,785,406 (GRCm39)	I1552N	probably damaging	Het
Htr1a	A	G	13: 105,581,788 (GRCm39)	T343A	probably benign	Het
Itk	G	T	11: 46,280,153 (GRCm39)	R29S	probably damaging	Het
Ivns1abp	G	T	1: 151,237,242 (GRCm39)	G469C	probably damaging	Het
Jph3	A	T	8: 122,511,598 (GRCm39)	N529Y	possibly damaging	Het
Kdm2b	A	G	5: 123,019,120 (GRCm39)	L829P	probably damaging	Het
Kprp	T	A	3: 92,732,033 (GRCm39)	Y339F	probably damaging	Het
Lrp2	A	G	2: 69,333,005 (GRCm39)	V1504A	possibly damaging	Het
Lypd6b	A	G	2: 49,833,615 (GRCm39)	D85G	probably damaging	Het
Mansc4	T	C	6: 146,977,136 (GRCm39)	Y160C	probably damaging	Het
Mgll	C	A	6: 88,790,871 (GRCm39)	H164N	probably benign	Het
Mtmr4	A	T	11: 87,504,342 (GRCm39)	D1097V	probably damaging	Het
Nfasc	T	C	1: 132,536,241 (GRCm39)	K571E	probably damaging	Het
Nfat5	A	T	8: 108,097,205 (GRCm39)	N1527Y	probably damaging	Het
Nlgn1	A	G	3: 25,966,808 (GRCm39)	L215P	probably damaging	Het
Or6b9	T	A	7: 106,555,235 (GRCm39)	I303L	probably benign	Het
Pde4dip	T	C	3: 97,627,020 (GRCm39)	S1173G	probably damaging	Het
Prrt3	A	T	6: 113,472,468 (GRCm39)	V568E	probably damaging	Het
Ptpra	G	A	2: 130,383,313 (GRCm39)	R503Q	possibly damaging	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rnf7l	A	G	10: 63,257,427 (GRCm39)	L31P	probably damaging	Het
Sema5a	G	A	15: 32,618,995 (GRCm39)	A508T	probably benign	Het
Serpinb11	T	C	1: 107,307,418 (GRCm39)	I283T	possibly damaging	Het
Setbp1	A	T	18: 78,901,807 (GRCm39)	L620Q	probably damaging	Het
Sipa1l3	A	T	7: 29,082,628 (GRCm39)	C756S	probably benign	Het
Sirpa	A	T	2: 129,471,961 (GRCm39)	I463F	probably damaging	Het
Slc13a2	G	T	11: 78,293,990 (GRCm39)	N257K	probably damaging	Het
Slc4a5	C	A	6: 83,248,039 (GRCm39)	T530N	probably damaging	Het
Stab2	A	T	10: 86,714,790 (GRCm39)	F125L	probably benign	Het
Tet2	G	T	3: 133,175,280 (GRCm39)	Q1356K	probably benign	Het
Tet3	A	T	6: 83,363,010 (GRCm39)	S856T	probably damaging	Het
Tg	C	T	15: 66,565,279 (GRCm39)	T1207I	possibly damaging	Het
Tkt	A	G	14: 30,287,525 (GRCm39)	Y173C	probably damaging	Het
Tlr6	T	A	5: 65,110,754 (GRCm39)	I718F	probably damaging	Het
Tnfrsf11b	A	G	15: 54,117,454 (GRCm39)	V267A	possibly damaging	Het
Ubqln3	T	A	7: 103,790,753 (GRCm39)	N446Y	probably damaging	Het
Vmn2r118	C	T	17: 55,915,083 (GRCm39)	C521Y	probably damaging	Het
Vps16	A	G	2: 130,282,260 (GRCm39)	D394G	probably benign	Het
Zfp236	A	T	18: 82,692,549 (GRCm39)	M142K	possibly damaging	Het
Zfp780b	T	C	7: 27,664,282 (GRCm39)	D91G	probably benign	Het
Zfp97	T	A	17: 17,365,468 (GRCm39)	Y322*	probably null	Het

Other mutations in Dhx40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02366:Dhx40	APN	11	86,667,528 (GRCm39)	missense	probably damaging	0.98
IGL02818:Dhx40	APN	11	86,690,331 (GRCm39)	missense	probably benign	0.26
IGL02932:Dhx40	APN	11	86,662,755 (GRCm39)	missense	probably damaging	1.00
R0312:Dhx40	UTSW	11	86,662,775 (GRCm39)	missense	probably damaging	0.99
R0485:Dhx40	UTSW	11	86,662,088 (GRCm39)	unclassified	probably benign
R0542:Dhx40	UTSW	11	86,695,082 (GRCm39)	critical splice donor site	probably null
R0565:Dhx40	UTSW	11	86,661,993 (GRCm39)	missense	probably damaging	0.97
R1218:Dhx40	UTSW	11	86,690,310 (GRCm39)	missense	probably benign	0.13
R1406:Dhx40	UTSW	11	86,688,571 (GRCm39)	missense	probably benign	0.01
R1406:Dhx40	UTSW	11	86,688,571 (GRCm39)	missense	probably benign	0.01
R1544:Dhx40	UTSW	11	86,697,379 (GRCm39)	missense	possibly damaging	0.93
R1839:Dhx40	UTSW	11	86,680,123 (GRCm39)	missense	possibly damaging	0.46
R2923:Dhx40	UTSW	11	86,680,089 (GRCm39)	missense	probably benign	0.26
R3743:Dhx40	UTSW	11	86,661,985 (GRCm39)	missense	probably damaging	0.99
R3864:Dhx40	UTSW	11	86,680,071 (GRCm39)	missense	possibly damaging	0.85
R4902:Dhx40	UTSW	11	86,662,036 (GRCm39)	missense	possibly damaging	0.95
R4918:Dhx40	UTSW	11	86,695,217 (GRCm39)	missense	possibly damaging	0.85
R5119:Dhx40	UTSW	11	86,667,462 (GRCm39)	missense	probably damaging	0.99
R5416:Dhx40	UTSW	11	86,688,517 (GRCm39)	missense	probably benign	0.01
R5531:Dhx40	UTSW	11	86,680,330 (GRCm39)	missense	possibly damaging	0.45
R5677:Dhx40	UTSW	11	86,691,789 (GRCm39)	splice site	probably null
R6270:Dhx40	UTSW	11	86,690,431 (GRCm39)	missense	possibly damaging	0.85
R6431:Dhx40	UTSW	11	86,664,649 (GRCm39)	missense	probably damaging	0.97
R6456:Dhx40	UTSW	11	86,675,800 (GRCm39)	missense	probably damaging	1.00
R6594:Dhx40	UTSW	11	86,676,599 (GRCm39)	missense	possibly damaging	0.74
R6599:Dhx40	UTSW	11	86,695,175 (GRCm39)	missense	possibly damaging	0.51
R7069:Dhx40	UTSW	11	86,688,569 (GRCm39)	missense	probably benign	0.06
R7268:Dhx40	UTSW	11	86,697,442 (GRCm39)	missense	possibly damaging	0.86
R7470:Dhx40	UTSW	11	86,667,528 (GRCm39)	missense	probably damaging	0.98
R7632:Dhx40	UTSW	11	86,690,263 (GRCm39)	missense	probably benign	0.42
R7728:Dhx40	UTSW	11	86,662,759 (GRCm39)	missense	probably damaging	0.98
R7788:Dhx40	UTSW	11	86,666,502 (GRCm39)	missense	possibly damaging	0.86
R7869:Dhx40	UTSW	11	86,688,532 (GRCm39)	missense	probably benign	0.02
R7889:Dhx40	UTSW	11	86,689,793 (GRCm39)	missense	probably benign	0.01
R8046:Dhx40	UTSW	11	86,675,766 (GRCm39)	nonsense	probably null
R8380:Dhx40	UTSW	11	86,697,411 (GRCm39)	missense	probably damaging	1.00
R8691:Dhx40	UTSW	11	86,690,419 (GRCm39)	missense	possibly damaging	0.63
R8992:Dhx40	UTSW	11	86,667,582 (GRCm39)	intron	probably benign
R9153:Dhx40	UTSW	11	86,690,365 (GRCm39)	missense	probably damaging	0.97
R9157:Dhx40	UTSW	11	86,662,050 (GRCm39)	missense	probably damaging	0.98
R9277:Dhx40	UTSW	11	86,661,056 (GRCm39)	missense	probably benign	0.33
X0021:Dhx40	UTSW	11	86,664,640 (GRCm39)	missense	possibly damaging	0.84
X0066:Dhx40	UTSW	11	86,697,328 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CAAAAGCAGAGATCTGGACAAGCACTAA -3'
(R):5'- CGTGGTGGGGAACAATGGTGATG -3'

Sequencing Primer
(F):5'- catacaagcaagcaaagcattc -3'
(R):5'- TGAGATGTAAGGAGAAACAGAACTTG -3'

Posted On

2014-04-13