Mutagenetix > Incidental Mutation

Incidental Mutation 'R7632:Dhx40'

589712

Institutional Source

Beutler Lab

Gene Symbol

Dhx40

Ensembl Gene

ENSMUSG00000018425

Gene Name

DEAH (Asp-Glu-Ala-His) box polypeptide 40

Synonyms

ARG147, 2410016C14Rik, DDX40

MMRRC Submission

045720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7632 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86768846-86807746 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86799437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 253 (T253A)

Ref Sequence

ENSEMBL: ENSMUSP00000018569 (fasta)

Gene Model

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

AlphaFold

Q6PE54

Predicted Effect

probably benign
Transcript: ENSMUST00000018569
AA Change: T253A

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000018569
Gene: ENSMUSG00000018425
AA Change: T253A

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

0.0640

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

95% (63/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	A	G	7: 141,631,323 (GRCm38)	D924G	probably benign	Het
Armh1	C	A	4: 117,213,741 (GRCm38)	A396S	probably benign	Het
Atrnl1	A	G	19: 57,630,306 (GRCm38)	D152G	probably damaging	Het
B3gnt8	A	G	7: 25,628,435 (GRCm38)	I97V	possibly damaging	Het
Bach1	A	G	16: 87,720,143 (GRCm38)	D524G	probably benign	Het
BC067074	C	A	13: 113,320,886 (GRCm38)	S1155R		Het
Caprin2	T	C	6: 148,883,456 (GRCm38)	S107G	probably damaging	Het
Ccnb1	A	G	13: 100,781,701 (GRCm38)	I207T	probably benign	Het
Cdh11	T	C	8: 102,673,883 (GRCm38)	D151G	probably damaging	Het
Cdh9	A	G	15: 16,851,029 (GRCm38)		probably null	Het
Cep83	A	T	10: 94,750,640 (GRCm38)	R433W	probably damaging	Het
D3Ertd751e	A	G	3: 41,753,728 (GRCm38)	E100G	probably benign	Het
Dchs2	C	T	3: 83,348,050 (GRCm38)	A2351V	probably benign	Het
Dqx1	A	G	6: 83,059,699 (GRCm38)	D228G	probably benign	Het
Dync1h1	T	C	12: 110,660,893 (GRCm38)	M4002T	probably benign	Het
Flcn	C	T	11: 59,795,799 (GRCm38)	W376*	probably null	Het
Flnc	A	T	6: 29,446,985 (GRCm38)	Y1037F	probably damaging	Het
Fut11	T	A	14: 20,695,028 (GRCm38)	V9E	probably benign	Het
Fv1	T	A	4: 147,869,935 (GRCm38)	N319K	possibly damaging	Het
Ghrhr	G	T	6: 55,384,742 (GRCm38)	G298V	probably benign	Het
Gm5800	T	A	14: 51,716,448 (GRCm38)		probably null	Het
Grin2b	A	G	6: 135,732,555 (GRCm38)	M1331T	probably benign	Het
Hyou1	A	G	9: 44,381,136 (GRCm38)		probably null	Het
Igkv1-117	C	A	6: 68,121,808 (GRCm38)	Q114K	probably damaging	Het
Igkv4-68	A	G	6: 69,305,064 (GRCm38)	V41A	possibly damaging	Het
Inpp4b	A	G	8: 82,046,339 (GRCm38)	N754S	probably damaging	Het
Isl2	G	A	9: 55,541,156 (GRCm38)		probably null	Het
Kat2a	G	A	11: 100,708,596 (GRCm38)	Q523*	probably null	Het
Lypd3	T	C	7: 24,638,440 (GRCm38)	F77S	possibly damaging	Het
Map4k2	T	C	19: 6,344,054 (GRCm38)	L297P	probably benign	Het
Naca	T	C	10: 128,040,506 (GRCm38)	V469A	unknown	Het
Notch3	C	T	17: 32,158,506 (GRCm38)	V199I	probably benign	Het
Olfr1294	T	C	2: 111,538,176 (GRCm38)	I38V	possibly damaging	Het
Olfr1475	T	C	19: 13,479,431 (GRCm38)	M256V	possibly damaging	Het
Pabpc1	TGTACCTGTTGCATGGTA	TGTA	15: 36,597,968 (GRCm38)		probably null	Het
Pcdhb8	A	T	18: 37,355,595 (GRCm38)	I109L	probably benign	Het
Pde2a	A	G	7: 101,484,594 (GRCm38)	D104G	possibly damaging	Het
Phip	A	G	9: 82,903,190 (GRCm38)	V824A	probably benign	Het
Plekhg4	T	C	8: 105,380,150 (GRCm38)	Y853H	probably damaging	Het
Plod1	T	C	4: 147,927,024 (GRCm38)	K248R	probably damaging	Het
Plxnd1	A	T	6: 115,976,639 (GRCm38)	Y656N	probably benign	Het
Pogz	G	A	3: 94,856,206 (GRCm38)		probably null	Het
Ppp1r3e	T	A	14: 54,877,069 (GRCm38)	S79C	probably damaging	Het
Pprc1	T	A	19: 46,072,282 (GRCm38)	D1595E	probably damaging	Het
Ptprq	A	G	10: 107,711,922 (GRCm38)	V205A	probably benign	Het
Rad51ap2	T	C	12: 11,457,115 (GRCm38)	V346A	possibly damaging	Het
Rgs12	T	A	5: 34,965,590 (GRCm38)	L239H	probably damaging	Het
Rrp8	T	C	7: 105,736,520 (GRCm38)		probably benign	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,579,906 (GRCm38)		probably benign	Het
Scaf1	A	T	7: 45,007,079 (GRCm38)	V792D	unknown	Het
Scrn2	G	T	11: 97,033,142 (GRCm38)	R284L	possibly damaging	Het
Sgsm1	T	A	5: 113,276,082 (GRCm38)	Q461L	possibly damaging	Het
Slc18b1	A	G	10: 23,826,182 (GRCm38)	T434A	probably benign	Het
Sltm	C	G	9: 70,586,673 (GRCm38)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 69,018,067 (GRCm38)		probably benign	Het
Snx33	A	T	9: 56,926,418 (GRCm38)	D122E	probably damaging	Het
Srebf2	G	T	15: 82,185,296 (GRCm38)	V680L	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm38)		probably benign	Het
Tecpr1	C	T	5: 144,218,726 (GRCm38)	V5M	probably benign	Het
Tfg	A	G	16: 56,712,634 (GRCm38)	V54A	possibly damaging	Het
Tmem237	C	T	1: 59,116,901 (GRCm38)	C30Y	probably benign	Het
Tmem245	T	C	4: 56,916,787 (GRCm38)	K444R	probably benign	Het
Trim25	T	G	11: 89,015,776 (GRCm38)	L446R	probably null	Het
Usp37	T	C	1: 74,468,374 (GRCm38)	T495A	probably benign	Het
Vmn1r94	T	G	7: 20,167,771 (GRCm38)	T203P	probably damaging	Het
Ywhah	T	A	5: 33,026,666 (GRCm38)	M71K	probably benign	Het

Other mutations in Dhx40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02366:Dhx40	APN	11	86,776,702 (GRCm38)	missense	probably damaging	0.98
IGL02818:Dhx40	APN	11	86,799,505 (GRCm38)	missense	probably benign	0.26
IGL02932:Dhx40	APN	11	86,771,929 (GRCm38)	missense	probably damaging	1.00
R0312:Dhx40	UTSW	11	86,771,949 (GRCm38)	missense	probably damaging	0.99
R0485:Dhx40	UTSW	11	86,771,262 (GRCm38)	unclassified	probably benign
R0542:Dhx40	UTSW	11	86,804,256 (GRCm38)	critical splice donor site	probably null
R0565:Dhx40	UTSW	11	86,771,167 (GRCm38)	missense	probably damaging	0.97
R1218:Dhx40	UTSW	11	86,799,484 (GRCm38)	missense	probably benign	0.13
R1406:Dhx40	UTSW	11	86,797,745 (GRCm38)	missense	probably benign	0.01
R1406:Dhx40	UTSW	11	86,797,745 (GRCm38)	missense	probably benign	0.01
R1544:Dhx40	UTSW	11	86,806,553 (GRCm38)	missense	possibly damaging	0.93
R1550:Dhx40	UTSW	11	86,776,739 (GRCm38)	splice site	probably null
R1839:Dhx40	UTSW	11	86,789,297 (GRCm38)	missense	possibly damaging	0.46
R2923:Dhx40	UTSW	11	86,789,263 (GRCm38)	missense	probably benign	0.26
R3743:Dhx40	UTSW	11	86,771,159 (GRCm38)	missense	probably damaging	0.99
R3864:Dhx40	UTSW	11	86,789,245 (GRCm38)	missense	possibly damaging	0.85
R4902:Dhx40	UTSW	11	86,771,210 (GRCm38)	missense	possibly damaging	0.95
R4918:Dhx40	UTSW	11	86,804,391 (GRCm38)	missense	possibly damaging	0.85
R5119:Dhx40	UTSW	11	86,776,636 (GRCm38)	missense	probably damaging	0.99
R5416:Dhx40	UTSW	11	86,797,691 (GRCm38)	missense	probably benign	0.01
R5531:Dhx40	UTSW	11	86,789,504 (GRCm38)	missense	possibly damaging	0.45
R5677:Dhx40	UTSW	11	86,800,963 (GRCm38)	splice site	probably null
R6270:Dhx40	UTSW	11	86,799,605 (GRCm38)	missense	possibly damaging	0.85
R6431:Dhx40	UTSW	11	86,773,823 (GRCm38)	missense	probably damaging	0.97
R6456:Dhx40	UTSW	11	86,784,974 (GRCm38)	missense	probably damaging	1.00
R6594:Dhx40	UTSW	11	86,785,773 (GRCm38)	missense	possibly damaging	0.74
R6599:Dhx40	UTSW	11	86,804,349 (GRCm38)	missense	possibly damaging	0.51
R7069:Dhx40	UTSW	11	86,797,743 (GRCm38)	missense	probably benign	0.06
R7268:Dhx40	UTSW	11	86,806,616 (GRCm38)	missense	possibly damaging	0.86
R7470:Dhx40	UTSW	11	86,776,702 (GRCm38)	missense	probably damaging	0.98
R7728:Dhx40	UTSW	11	86,771,933 (GRCm38)	missense	probably damaging	0.98
R7788:Dhx40	UTSW	11	86,775,676 (GRCm38)	missense	possibly damaging	0.86
R7869:Dhx40	UTSW	11	86,797,706 (GRCm38)	missense	probably benign	0.02
R7889:Dhx40	UTSW	11	86,798,967 (GRCm38)	missense	probably benign	0.01
R8046:Dhx40	UTSW	11	86,784,940 (GRCm38)	nonsense	probably null
R8380:Dhx40	UTSW	11	86,806,585 (GRCm38)	missense	probably damaging	1.00
R8691:Dhx40	UTSW	11	86,799,593 (GRCm38)	missense	possibly damaging	0.63
R8992:Dhx40	UTSW	11	86,776,756 (GRCm38)	intron	probably benign
R9153:Dhx40	UTSW	11	86,799,539 (GRCm38)	missense	probably damaging	0.97
R9157:Dhx40	UTSW	11	86,771,224 (GRCm38)	missense	probably damaging	0.98
R9277:Dhx40	UTSW	11	86,770,230 (GRCm38)	missense	probably benign	0.33
X0021:Dhx40	UTSW	11	86,773,814 (GRCm38)	missense	possibly damaging	0.84
X0066:Dhx40	UTSW	11	86,806,502 (GRCm38)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- AAGAAGTCCTAGCATTCATTAAGGC -3'
(R):5'- AAGCTGTTTCAGGATAAGTCTCC -3'

Sequencing Primer
(F):5'- TTGCCACACAAGCTTGATGG -3'
(R):5'- GTTTCAGGATAAGTCTCCTAACAGG -3'

Posted On

2019-10-24