Mutagenetix > Incidental Mutation

Incidental Mutation 'R9153:Dhx40'

695165

Institutional Source

Beutler Lab

Gene Symbol

Dhx40

Ensembl Gene

ENSMUSG00000018425

Gene Name

DEAH-box helicase 40

Synonyms

2410016C14Rik, ARG147, DDX40

MMRRC Submission

068940-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86659672-86698572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86690365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 219 (S219P)

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: S219P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000018569
Gene: ENSMUSG00000018425
AA Change: S219P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (73/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,107,481 (GRCm39)	S711R	possibly damaging	Het
Adnp	C	A	2: 168,026,580 (GRCm39)	Q238H	possibly damaging	Het
Akap13	A	G	7: 75,259,229 (GRCm39)	T618A	probably benign	Het
Ankfn1	G	A	11: 89,302,845 (GRCm39)	R58W	probably damaging	Het
Atp8b5	A	G	4: 43,308,493 (GRCm39)		probably benign	Het
Borcs5	G	T	6: 134,618,108 (GRCm39)		probably benign	Het
C1s1	T	C	6: 124,517,906 (GRCm39)	M25V	possibly damaging	Het
Canx	A	T	11: 50,188,162 (GRCm39)	D527E	probably benign	Het
Ccdc154	G	A	17: 25,382,152 (GRCm39)	D24N	probably damaging	Het
Ccnt1	G	A	15: 98,441,159 (GRCm39)	T703I	probably benign	Het
Cd46	T	C	1: 194,774,479 (GRCm39)	S19G	possibly damaging	Het
Cdc25b	G	A	2: 131,034,564 (GRCm39)	E264K	possibly damaging	Het
Cdhr17	A	T	5: 17,040,916 (GRCm39)		probably null	Het
Cog5	A	C	12: 31,710,810 (GRCm39)	K63N	possibly damaging	Het
Col28a1	G	A	6: 8,022,765 (GRCm39)	T726I	probably benign	Het
Dnah12	T	A	14: 26,536,569 (GRCm39)	W2162R	probably damaging	Het
Eef1a2	A	G	2: 180,789,774 (GRCm39)	*464R	probably null	Het
Eif1a	T	A	18: 46,741,036 (GRCm39)	D90E	probably damaging	Het
Fasn	C	T	11: 120,706,496 (GRCm39)	R996Q	possibly damaging	Het
Foxred2	A	G	15: 77,839,787 (GRCm39)		probably null	Het
Frat2	A	G	19: 41,835,806 (GRCm39)	L182P	probably damaging	Het
Fxyd2	G	T	9: 45,319,609 (GRCm39)	V24F	probably damaging	Het
Gabrd	C	T	4: 155,470,496 (GRCm39)	V319I	probably damaging	Het
H13	T	G	2: 152,533,788 (GRCm39)	V267G	possibly damaging	Het
Hnf4g	T	C	3: 3,573,378 (GRCm39)		probably benign	Het
Iglon5	T	A	7: 43,125,421 (GRCm39)	T272S	possibly damaging	Het
Iqgap2	T	A	13: 95,844,547 (GRCm39)	M454L	probably benign	Het
Irf8	T	C	8: 121,480,400 (GRCm39)	C304R	probably benign	Het
Itga2	A	G	13: 115,001,941 (GRCm39)	F614L	probably benign	Het
Itgb4	A	C	11: 115,874,879 (GRCm39)	H412P	probably benign	Het
Jarid2	T	C	13: 45,064,678 (GRCm39)	F921S	probably damaging	Het
Kctd13	A	G	7: 126,541,327 (GRCm39)	D189G	probably damaging	Het
Meis2	G	T	2: 115,697,756 (GRCm39)	P381T	probably benign	Het
Mertk	G	T	2: 128,624,487 (GRCm39)	A633S	probably damaging	Het
Morn5	A	G	2: 35,942,993 (GRCm39)	Y31C	probably damaging	Het
Mug2	A	T	6: 122,017,627 (GRCm39)	T455S	possibly damaging	Het
Myo3a	A	G	2: 22,404,744 (GRCm39)	N700S	probably benign	Het
Nisch	T	C	14: 30,896,782 (GRCm39)	T807A	unknown	Het
Nkx1-1	A	T	5: 33,588,703 (GRCm39)	V195E	unknown	Het
Numa1	A	G	7: 101,649,118 (GRCm39)	T950A	probably benign	Het
Nup160	A	G	2: 90,514,429 (GRCm39)	T126A	possibly damaging	Het
Oca2	C	T	7: 55,943,586 (GRCm39)	T253I	probably benign	Het
Odad2	T	C	18: 7,286,733 (GRCm39)	K166R	possibly damaging	Het
Or6c209	T	A	10: 129,483,306 (GRCm39)	I103N	possibly damaging	Het
P4ha1	A	G	10: 59,203,112 (GRCm39)	K435R	probably damaging	Het
Pcdhgb4	T	A	18: 37,854,131 (GRCm39)	N175K	possibly damaging	Het
Per3	A	G	4: 151,111,796 (GRCm39)	L396P	probably benign	Het
Phactr3	A	T	2: 177,925,739 (GRCm39)	E338V	possibly damaging	Het
Plec	G	T	15: 76,064,725 (GRCm39)	R1782S	unknown	Het
Prpf39	A	T	12: 65,106,671 (GRCm39)	Q593L	probably damaging	Het
Ptprq	T	C	10: 107,416,126 (GRCm39)	Y1724C	probably damaging	Het
Pygo1	T	A	9: 72,852,143 (GRCm39)	V110D	possibly damaging	Het
Rasgrf1	T	A	9: 89,826,790 (GRCm39)	L133Q	probably damaging	Het
Rgs10	G	A	7: 127,975,733 (GRCm39)	R145C	probably damaging	Het
Secisbp2	A	G	13: 51,833,855 (GRCm39)	Y665C	possibly damaging	Het
Sel1l3	T	A	5: 53,293,188 (GRCm39)	T843S	probably benign	Het
Senp7	G	A	16: 56,006,486 (GRCm39)	V964I	probably benign	Het
Setd4	T	A	16: 93,384,722 (GRCm39)	D322V	possibly damaging	Het
Sftpc	T	A	14: 70,759,650 (GRCm39)	T90S	probably benign	Het
Shq1	A	T	6: 100,588,738 (GRCm39)	D382E	probably damaging	Het
Sim1	A	G	10: 50,772,029 (GRCm39)	R13G	probably damaging	Het
Slc12a1	T	G	2: 125,002,989 (GRCm39)		probably benign	Het
Slc27a6	T	C	18: 58,731,805 (GRCm39)	F385S	probably benign	Het
Stk38l	A	G	6: 146,660,048 (GRCm39)	T27A	probably benign	Het
Tasp1	A	G	2: 139,899,327 (GRCm39)	S9P	probably damaging	Het
Tcstv1a	T	A	13: 120,355,290 (GRCm39)	D114V	probably damaging	Het
Tmigd1	A	T	11: 76,795,468 (GRCm39)	R25S	probably benign	Het
Tnrc6a	T	A	7: 122,773,519 (GRCm39)	Y1154N	probably damaging	Het
Tox2	T	C	2: 163,045,091 (GRCm39)	V3A		Het
Ubr1	A	T	2: 120,756,469 (GRCm39)	D719E	probably benign	Het
Ubr3	A	G	2: 69,795,822 (GRCm39)	K923R		Het
Vmn2r12	C	T	5: 109,234,203 (GRCm39)	V670M	probably damaging	Het
Zfp983	T	C	17: 21,876,522 (GRCm39)	S9P	probably benign	Het
Zfp986	A	T	4: 145,626,030 (GRCm39)	H230L	probably damaging	Het
Zscan4f	G	A	7: 11,135,241 (GRCm39)	E216K	probably benign	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
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
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'- AGAAGTCCTAGCATTCATTAAGGC -3'
(R):5'- TCAGGCTTCAAAGATAGATAGATAGGC -3'

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

Posted On

2022-01-20