Mutagenetix > Incidental Mutation

Incidental Mutation 'R7632:Dhx40'

589712

Institutional Source

Beutler Lab

Gene Symbol

Dhx40

Ensembl Gene

ENSMUSG00000018425

Gene Name

DEAH-box helicase 40

Synonyms

2410016C14Rik, ARG147, 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

86659672-86698572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86690263 bp (GRCm39)

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: 141,211,236 (GRCm39)	D924G	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atrnl1	A	G	19: 57,618,738 (GRCm39)	D152G	probably damaging	Het
B3gnt8	A	G	7: 25,327,860 (GRCm39)	I97V	possibly damaging	Het
Bach1	A	G	16: 87,517,031 (GRCm39)	D524G	probably benign	Het
Caprin2	T	C	6: 148,784,954 (GRCm39)	S107G	probably damaging	Het
Ccnb1	A	G	13: 100,918,209 (GRCm39)	I207T	probably benign	Het
Cdh11	T	C	8: 103,400,515 (GRCm39)	D151G	probably damaging	Het
Cdh9	A	G	15: 16,851,115 (GRCm39)		probably null	Het
Cep83	A	T	10: 94,586,502 (GRCm39)	R433W	probably damaging	Het
Cspg4b	C	A	13: 113,457,420 (GRCm39)	S1155R		Het
D3Ertd751e	A	G	3: 41,708,163 (GRCm39)	E100G	probably benign	Het
Dchs2	C	T	3: 83,255,357 (GRCm39)	A2351V	probably benign	Het
Dqx1	A	G	6: 83,036,680 (GRCm39)	D228G	probably benign	Het
Dync1h1	T	C	12: 110,627,327 (GRCm39)	M4002T	probably benign	Het
Flcn	C	T	11: 59,686,625 (GRCm39)	W376*	probably null	Het
Flnc	A	T	6: 29,446,984 (GRCm39)	Y1037F	probably damaging	Het
Fut11	T	A	14: 20,745,096 (GRCm39)	V9E	probably benign	Het
Fv1	T	A	4: 147,954,392 (GRCm39)	N319K	possibly damaging	Het
Ghrhr	G	T	6: 55,361,727 (GRCm39)	G298V	probably benign	Het
Gm5800	T	A	14: 51,953,905 (GRCm39)		probably null	Het
Grin2b	A	G	6: 135,709,553 (GRCm39)	M1331T	probably benign	Het
Hyou1	A	G	9: 44,292,433 (GRCm39)		probably null	Het
Igkv1-117	C	A	6: 68,098,792 (GRCm39)	Q114K	probably damaging	Het
Igkv4-68	A	G	6: 69,282,048 (GRCm39)	V41A	possibly damaging	Het
Inpp4b	A	G	8: 82,772,968 (GRCm39)	N754S	probably damaging	Het
Isl2	G	A	9: 55,448,440 (GRCm39)		probably null	Het
Kat2a	G	A	11: 100,599,422 (GRCm39)	Q523*	probably null	Het
Lypd3	T	C	7: 24,337,865 (GRCm39)	F77S	possibly damaging	Het
Map4k2	T	C	19: 6,394,084 (GRCm39)	L297P	probably benign	Het
Naca	T	C	10: 127,876,375 (GRCm39)	V469A	unknown	Het
Notch3	C	T	17: 32,377,480 (GRCm39)	V199I	probably benign	Het
Or4k44	T	C	2: 111,368,521 (GRCm39)	I38V	possibly damaging	Het
Or5b119	T	C	19: 13,456,795 (GRCm39)	M256V	possibly damaging	Het
Pabpc1	TGTACCTGTTGCATGGTA	TGTA	15: 36,598,212 (GRCm39)		probably null	Het
Pcdhb8	A	T	18: 37,488,648 (GRCm39)	I109L	probably benign	Het
Pde2a	A	G	7: 101,133,801 (GRCm39)	D104G	possibly damaging	Het
Phip	A	G	9: 82,785,243 (GRCm39)	V824A	probably benign	Het
Plekhg4	T	C	8: 106,106,782 (GRCm39)	Y853H	probably damaging	Het
Plod1	T	C	4: 148,011,481 (GRCm39)	K248R	probably damaging	Het
Plxnd1	A	T	6: 115,953,600 (GRCm39)	Y656N	probably benign	Het
Pogz	G	A	3: 94,763,517 (GRCm39)		probably null	Het
Ppp1r3e	T	A	14: 55,114,526 (GRCm39)	S79C	probably damaging	Het
Pprc1	T	A	19: 46,060,721 (GRCm39)	D1595E	probably damaging	Het
Ptprq	A	G	10: 107,547,783 (GRCm39)	V205A	probably benign	Het
Rad51ap2	T	C	12: 11,507,116 (GRCm39)	V346A	possibly damaging	Het
Rgs12	T	A	5: 35,122,934 (GRCm39)	L239H	probably damaging	Het
Rrp8	T	C	7: 105,385,727 (GRCm39)		probably benign	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scaf1	A	T	7: 44,656,503 (GRCm39)	V792D	unknown	Het
Scrn2	G	T	11: 96,923,968 (GRCm39)	R284L	possibly damaging	Het
Sgsm1	T	A	5: 113,423,948 (GRCm39)	Q461L	possibly damaging	Het
Slc18b1	A	G	10: 23,702,080 (GRCm39)	T434A	probably benign	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Snx33	A	T	9: 56,833,702 (GRCm39)	D122E	probably damaging	Het
Srebf2	G	T	15: 82,069,497 (GRCm39)	V680L	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Tecpr1	C	T	5: 144,155,544 (GRCm39)	V5M	probably benign	Het
Tfg	A	G	16: 56,532,997 (GRCm39)	V54A	possibly damaging	Het
Tmem237	C	T	1: 59,156,060 (GRCm39)	C30Y	probably benign	Het
Tmem245	T	C	4: 56,916,787 (GRCm39)	K444R	probably benign	Het
Trim25	T	G	11: 88,906,602 (GRCm39)	L446R	probably null	Het
Usp37	T	C	1: 74,507,533 (GRCm39)	T495A	probably benign	Het
Vmn1r94	T	G	7: 19,901,696 (GRCm39)	T203P	probably damaging	Het
Ywhah	T	A	5: 33,184,010 (GRCm39)	M71K	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
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'- AAGAAGTCCTAGCATTCATTAAGGC -3'
(R):5'- AAGCTGTTTCAGGATAAGTCTCC -3'

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

Posted On

2019-10-24