Mutagenetix > Incidental Mutation

Incidental Mutation 'R0312:Dhx40'

25294

Institutional Source

Beutler Lab

Gene Symbol

Dhx40

Ensembl Gene

ENSMUSG00000018425

Gene Name

DEAH-box helicase 40

Synonyms

2410016C14Rik, ARG147, DDX40

MMRRC Submission

038522-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0312 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86659672-86698572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86662775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 639 (T639I)

Ref Sequence

ENSEMBL: ENSMUSP00000018569 (fasta)

Gene Model

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

AlphaFold

Q6PE54

Predicted Effect

probably damaging
Transcript: ENSMUST00000018569
AA Change: T639I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000018569
Gene: ENSMUSG00000018425
AA Change: T639I

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 benign
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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 90.3%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	T	12: 118,836,572 (GRCm39)	A1113D	probably damaging	Het
Adcy1	G	T	11: 7,099,538 (GRCm39)	A673S	probably benign	Het
Apob	T	A	12: 8,059,034 (GRCm39)	H2505Q	probably benign	Het
Arhgap12	A	G	18: 6,061,982 (GRCm39)		probably benign	Het
Bcl9	C	T	3: 97,116,727 (GRCm39)	E656K	probably benign	Het
Bnc1	C	T	7: 81,627,072 (GRCm39)	R106H	possibly damaging	Het
Ccdc54	T	C	16: 50,411,165 (GRCm39)	K34E	possibly damaging	Het
Cfap65	G	A	1: 74,943,226 (GRCm39)	R1600W	probably damaging	Het
Csmd1	A	T	8: 16,034,760 (GRCm39)	N2470K	probably damaging	Het
Cspp1	T	C	1: 10,129,054 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,768,684 (GRCm39)	I699N	probably damaging	Het
Dlg1	A	G	16: 31,609,085 (GRCm39)	T227A	probably benign	Het
Dnah10	G	A	5: 124,873,433 (GRCm39)		probably benign	Het
Dnah3	T	A	7: 119,644,882 (GRCm39)	K1133M	probably damaging	Het
Dock5	G	C	14: 68,033,440 (GRCm39)	F976L	possibly damaging	Het
Evc	C	T	5: 37,485,885 (GRCm39)	C97Y	possibly damaging	Het
Fbxw7	T	C	3: 84,874,876 (GRCm39)		probably benign	Het
Fggy	A	C	4: 95,732,422 (GRCm39)	D112A	probably damaging	Het
Fpgs	A	G	2: 32,574,813 (GRCm39)	Y435H	probably damaging	Het
Fryl	T	A	5: 73,230,231 (GRCm39)	H1642L	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gda	T	A	19: 21,394,369 (GRCm39)	I237F	probably damaging	Het
Glt1d1	A	G	5: 127,768,134 (GRCm39)	N247S	probably damaging	Het
Gm7647	T	C	5: 95,110,839 (GRCm39)	S7P	probably benign	Het
Gpr31b	C	T	17: 13,270,498 (GRCm39)	V224I	probably damaging	Het
Hlf	G	A	11: 90,278,701 (GRCm39)	P121L	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ism1	G	T	2: 139,520,592 (GRCm39)	M1I	probably null	Het
Kansl1l	T	C	1: 66,817,265 (GRCm39)	N365S	probably null	Het
Lama1	T	C	17: 68,082,846 (GRCm39)	L1368P	possibly damaging	Het
Lima1	A	G	15: 99,678,968 (GRCm39)	V491A	possibly damaging	Het
Lrch1	G	T	14: 75,185,034 (GRCm39)	H23N	possibly damaging	Het
Lrp1b	A	G	2: 41,172,183 (GRCm39)	V1488A	probably damaging	Het
Lrp8	T	C	4: 107,664,052 (GRCm39)		probably benign	Het
Lrrc8e	A	G	8: 4,285,733 (GRCm39)	S653G	probably benign	Het
Mnat1	A	G	12: 73,228,558 (GRCm39)	T141A	possibly damaging	Het
Mpeg1	C	A	19: 12,439,767 (GRCm39)	N408K	probably damaging	Het
Myo7b	T	C	18: 32,147,390 (GRCm39)	E51G	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naa35	A	G	13: 59,757,395 (GRCm39)	T257A	probably benign	Het
Obox5	T	A	7: 15,491,485 (GRCm39)	H8Q	probably damaging	Het
Or1j4	A	T	2: 36,740,372 (GRCm39)	I105L	probably benign	Het
Or51q1c	T	C	7: 103,653,232 (GRCm39)	V250A	probably damaging	Het
Or5h26	A	T	16: 58,988,202 (GRCm39)	F101L	probably benign	Het
Phldb2	G	T	16: 45,609,410 (GRCm39)	T732N	probably damaging	Het
Phyhip	G	T	14: 70,704,410 (GRCm39)	A210S	possibly damaging	Het
Pik3r4	A	G	9: 105,563,409 (GRCm39)	D1262G	probably damaging	Het
Pip	G	A	6: 41,826,798 (GRCm39)	E48K	possibly damaging	Het
Plk4	C	T	3: 40,767,982 (GRCm39)	L74F	probably damaging	Het
Prdm14	G	A	1: 13,189,031 (GRCm39)	R438W	probably damaging	Het
Rab19	G	A	6: 39,361,023 (GRCm39)	R57H	probably benign	Het
Rtl1	G	T	12: 109,556,661 (GRCm39)	P1726Q	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Skint6	A	T	4: 112,666,297 (GRCm39)	V1176D	possibly damaging	Het
Slc12a1	A	G	2: 125,067,948 (GRCm39)	I1012V	probably damaging	Het
Slc1a3	C	T	15: 8,665,721 (GRCm39)	M509I	probably benign	Het
Spata18	G	A	5: 73,824,224 (GRCm39)	G35E	probably benign	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Sspo	C	T	6: 48,432,335 (GRCm39)	P801L	possibly damaging	Het
Ugt2b37	C	T	5: 87,398,524 (GRCm39)	G304D	probably damaging	Het
Vmn2r25	A	T	6: 123,805,539 (GRCm39)		probably benign	Het
Xrcc6	C	A	15: 81,911,423 (GRCm39)		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
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
R1550:Dhx40	UTSW	11	86,667,565 (GRCm39)	splice site	probably null
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'- GCGGTGTAAGTCTGTAAGTCTGTCTCA -3'
(R):5'- AACCTACCCTCTTGTAATAGCAGCCT -3'

Sequencing Primer
(F):5'- GTCTGTCTCACCACTTGGGAG -3'
(R):5'- CTCTTCCCTAGGTAAACTGCTG -3'

Posted On

2013-04-16