Incidental Mutation 'R7788:Dhx40'
ID 599683
Institutional Source Beutler Lab
Gene Symbol Dhx40
Ensembl Gene ENSMUSG00000018425
Gene Name DEAH-box helicase 40
Synonyms 2410016C14Rik, ARG147, DDX40
MMRRC Submission 045844-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7788 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 86659672-86698572 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86666502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 597 (I597T)
Ref Sequence ENSEMBL: ENSMUSP00000018569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018569] [ENSMUST00000148263]
AlphaFold Q6PE54
Predicted Effect possibly damaging
Transcript: ENSMUST00000018569
AA Change: I597T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018569
Gene: ENSMUSG00000018425
AA Change: I597T

DomainStartEndE-ValueType
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
AA Change: I299T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000114918
Gene: ENSMUSG00000018425
AA Change: I299T

DomainStartEndE-ValueType
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 0.1081 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (68/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 A T 14: 68,750,094 (GRCm39) V442E possibly damaging Het
Adgrv1 A T 13: 81,721,433 (GRCm39) V715D probably damaging Het
Aldh1l1 A C 6: 90,546,894 (GRCm39) D399A probably benign Het
Ankrd23 T C 1: 36,570,808 (GRCm39) N274S probably damaging Het
Aopep A T 13: 63,304,407 (GRCm39) H473L possibly damaging Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Arpc4 A T 6: 113,362,565 (GRCm39) M149L probably benign Het
Bdp1 T C 13: 100,191,759 (GRCm39) T1407A possibly damaging Het
Calml3 A T 13: 3,854,121 (GRCm39) I28N probably damaging Het
Cdhr3 A G 12: 33,110,319 (GRCm39) S322P probably damaging Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Cntn5 A G 9: 9,704,934 (GRCm39) S622P probably benign Het
Col22a1 A G 15: 71,824,166 (GRCm39) probably null Het
Csf2rb2 A T 15: 78,177,041 (GRCm39) I143N probably benign Het
Cwh43 T C 5: 73,572,377 (GRCm39) L205P probably damaging Het
Dennd5b T C 6: 148,970,064 (GRCm39) T52A probably benign Het
Dnajc21 A G 15: 10,460,133 (GRCm39) L268P probably damaging Het
Dzip1 A T 14: 119,120,805 (GRCm39) D717E probably benign Het
Elmo3 A G 8: 106,034,876 (GRCm39) N389D probably damaging Het
Evi2a T C 11: 79,418,768 (GRCm39) E14G unknown Het
Fam149a T A 8: 45,834,554 (GRCm39) R82W probably damaging Het
Farp1 A T 14: 121,513,665 (GRCm39) E820V probably benign Het
Fgd5 T A 6: 91,965,440 (GRCm39) S400T possibly damaging Het
Flnc G A 6: 29,456,443 (GRCm39) V2214I possibly damaging Het
Galnt4 C A 10: 98,944,975 (GRCm39) N233K possibly damaging Het
Gbp5 A G 3: 142,208,841 (GRCm39) Y128C probably damaging Het
Gm4871 G A 5: 144,969,420 (GRCm39) T33I probably benign Het
Gm5592 T C 7: 40,936,118 (GRCm39) S207P probably benign Het
Gtf2ird1 A T 5: 134,445,985 (GRCm39) C15* probably null Het
Ido2 T A 8: 25,037,242 (GRCm39) I155F probably damaging Het
Ifi27l2b A T 12: 103,423,268 (GRCm39) probably null Het
Il15ra C T 2: 11,728,404 (GRCm39) T49I probably damaging Het
Itpr3 T A 17: 27,337,571 (GRCm39) C2460* probably null Het
Kcnj11 T C 7: 45,749,179 (GRCm39) N48S probably damaging Het
Lmo7 A C 14: 102,136,012 (GRCm39) N695T possibly damaging Het
Mmp15 C A 8: 96,094,776 (GRCm39) H217N probably damaging Het
Mtcl2 C T 2: 156,869,504 (GRCm39) A1044T probably benign Het
Muc21 A T 17: 35,929,798 (GRCm39) S1463T unknown Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Myo5c A T 9: 75,186,627 (GRCm39) D991V probably damaging Het
Nfkbid T A 7: 30,126,603 (GRCm39) N396K probably damaging Het
Oas1c A G 5: 120,939,107 (GRCm39) F361L probably benign Het
Or10aa1 A G 1: 173,869,650 (GRCm39) I45V probably benign Het
Or1e1b-ps1 A T 11: 73,845,948 (GRCm39) Y144F probably benign Het
Osbpl9 T C 4: 108,919,691 (GRCm39) K606E probably benign Het
Pkp2 C A 16: 16,043,272 (GRCm39) L111I probably benign Het
Pogz A G 3: 94,782,544 (GRCm39) Y635C probably damaging Het
Prdx2 A G 8: 85,698,303 (GRCm39) T165A probably benign Het
Ptcd3 T C 6: 71,862,541 (GRCm39) I465V probably benign Het
Ptprd G A 4: 75,916,841 (GRCm39) T770I probably damaging Het
Rapgef6 A G 11: 54,585,225 (GRCm39) Y1541C probably damaging Het
Rilpl1 A T 5: 124,634,200 (GRCm39) probably null Het
Rimbp3 T A 16: 17,030,568 (GRCm39) Y1331N probably benign Het
Sav1 T C 12: 70,030,995 (GRCm39) R176G probably damaging Het
Sirt5 A G 13: 43,536,623 (GRCm39) H219R probably benign Het
Skint5 T G 4: 113,403,715 (GRCm39) D1169A unknown Het
Slfn9 G T 11: 82,873,467 (GRCm39) Q479K possibly damaging Het
Spata31f1e A T 4: 42,793,546 (GRCm39) H195Q possibly damaging Het
Susd4 T C 1: 182,722,767 (GRCm39) I483T possibly damaging Het
Tmem156 C T 5: 65,232,912 (GRCm39) V217I possibly damaging Het
Tmem79 A G 3: 88,239,949 (GRCm39) Y254H probably benign Het
Tmprss2 T A 16: 97,377,429 (GRCm39) K223* probably null Het
Trav3-1 T C 14: 52,818,581 (GRCm39) V85A probably damaging Het
Ttn T C 2: 76,716,100 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,559 (GRCm39) I344V not run Het
Vps13c A T 9: 67,847,765 (GRCm39) M2176L probably benign Het
Wdfy3 A T 5: 101,996,223 (GRCm39) V3213D probably damaging Het
Zbtb21 G A 16: 97,752,654 (GRCm39) T543M possibly damaging Het
Zc3hav1 A T 6: 38,309,691 (GRCm39) V377D probably benign Het
Zswim3 T C 2: 164,661,699 (GRCm39) C60R probably damaging Het
Other mutations in Dhx40
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GACGGCTGGCTATACAGAGTAG -3'
(R):5'- GTGCTTGTCCAGATCTCTGC -3'

Sequencing Primer
(F):5'- CTGGCTATACAGAGTAGCATGC -3'
(R):5'- TAGTAGAAGATGCCTTGCACTCC -3'
Posted On 2019-11-26