Incidental Mutation 'R7268:Dhx40'
ID 565094
Institutional Source Beutler Lab
Gene Symbol Dhx40
Ensembl Gene ENSMUSG00000018425
Gene Name DEAH-box helicase 40
Synonyms 2410016C14Rik, ARG147, DDX40
MMRRC Submission 045319-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7268 (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 T at 86697442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 42 (C42S)
Ref Sequence ENSEMBL: ENSMUSP00000018569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018569]
AlphaFold Q6PE54
Predicted Effect possibly damaging
Transcript: ENSMUST00000018569
AA Change: C42S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000018569
Gene: ENSMUSG00000018425
AA Change: C42S

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
Meta Mutation Damage Score 0.0819 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 99% (72/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 T C 1: 156,461,509 (GRCm39) probably null Het
Acsf3 A G 8: 123,517,401 (GRCm39) Y399C probably benign Het
Acsm5 A T 7: 119,136,511 (GRCm39) T361S probably benign Het
Agap1 T G 1: 89,694,070 (GRCm39) I456S probably benign Het
Ahnak2 A T 12: 112,780,802 (GRCm38) V70E Het
Alb T A 5: 90,610,575 (GRCm39) S52T probably benign Het
Ankle1 A G 8: 71,860,189 (GRCm39) T256A probably damaging Het
Armt1 G A 10: 4,400,855 (GRCm39) V201M possibly damaging Het
Atp2a2 T C 5: 122,605,792 (GRCm39) T388A probably benign Het
Atp6v0a2 T C 5: 124,796,930 (GRCm39) L770P probably damaging Het
B4galnt3 A T 6: 120,192,003 (GRCm39) W578R possibly damaging Het
Babam2 T C 5: 31,859,197 (GRCm39) S2P probably damaging Het
Baz2a A G 10: 127,960,090 (GRCm39) H1459R possibly damaging Het
Bbs7 C T 3: 36,658,575 (GRCm39) R233Q probably benign Het
Cacna2d1 G A 5: 16,575,586 (GRCm39) G1076R probably damaging Het
Camsap2 C T 1: 136,201,483 (GRCm39) probably null Het
Car10 A G 11: 93,490,077 (GRCm39) N273D probably benign Het
Ccdc66 T C 14: 27,208,880 (GRCm39) D458G probably benign Het
Ccdc7a T A 8: 129,607,633 (GRCm39) H982L possibly damaging Het
Col9a1 A G 1: 24,246,479 (GRCm39) K386E possibly damaging Het
Ctcfl A G 2: 172,949,588 (GRCm39) I415T probably benign Het
Cyp3a16 G C 5: 145,404,280 (GRCm39) Y54* probably null Het
Dact2 T C 17: 14,416,797 (GRCm39) T468A probably benign Het
Dgkb T A 12: 38,197,554 (GRCm39) L355* probably null Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dop1a G T 9: 86,394,830 (GRCm39) E637* probably null Het
Dpp4 G T 2: 62,178,186 (GRCm39) P649T probably damaging Het
Eri3 T A 4: 117,506,580 (GRCm39) I303K probably benign Het
Foxi1 A T 11: 34,155,783 (GRCm39) Y282* probably null Het
Gdi2 T A 13: 3,606,363 (GRCm39) Y146* probably null Het
Gns A G 10: 121,212,557 (GRCm39) Y173C probably damaging Het
Gpc1 C A 1: 92,786,093 (GRCm39) P494Q possibly damaging Het
Habp2 G T 19: 56,302,518 (GRCm39) G274V probably damaging Het
Hcfc2 T A 10: 82,544,846 (GRCm39) Y159* probably null Het
Hmcn2 T A 2: 31,347,978 (GRCm39) S4875T possibly damaging Het
Hmgcs2 A G 3: 98,204,796 (GRCm39) N318S probably benign Het
Lnpep A T 17: 17,758,803 (GRCm39) M847K probably benign Het
Mmp16 A C 4: 18,093,366 (GRCm39) M374L probably benign Het
Mrpl38 A G 11: 116,029,396 (GRCm39) I40T possibly damaging Het
Ncstn T C 1: 171,908,830 (GRCm39) T46A possibly damaging Het
Nlrp1a C T 11: 71,015,068 (GRCm39) V61I probably benign Het
Npas2 G T 1: 39,326,658 (GRCm39) V48L probably damaging Het
Or13p5 A G 4: 118,592,605 (GRCm39) Y293C probably damaging Het
Or52ac1 G A 7: 104,246,284 (GRCm39) L35F probably benign Het
Or6c6 C T 10: 129,187,263 (GRCm39) T277I possibly damaging Het
Pcyox1 A T 6: 86,368,713 (GRCm39) N268K possibly damaging Het
Pramel14 A T 4: 143,720,090 (GRCm39) probably null Het
Prr27 T C 5: 87,991,135 (GRCm39) L249P probably damaging Het
Psat1 A T 19: 15,894,508 (GRCm39) V168D probably damaging Het
Psg17 G T 7: 18,548,586 (GRCm39) T395K possibly damaging Het
Ptgis A G 2: 167,048,676 (GRCm39) Y447H probably benign Het
Rad50 T A 11: 53,575,102 (GRCm39) N607I probably benign Het
Rps6ka2 T C 17: 7,562,662 (GRCm39) Y602H possibly damaging Het
Senp6 G A 9: 80,049,406 (GRCm39) R1010H probably damaging Het
Slc8a3 C A 12: 81,361,827 (GRCm39) D331Y probably damaging Het
Slc9c1 G A 16: 45,370,479 (GRCm39) S240N probably damaging Het
Slf1 A G 13: 77,214,826 (GRCm39) L620P probably damaging Het
Snx19 A G 9: 30,351,473 (GRCm39) E847G probably damaging Het
Spaca6 T C 17: 18,052,369 (GRCm39) V103A probably benign Het
Tbk1 A G 10: 121,388,404 (GRCm39) Y591H probably benign Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tfap2a G A 13: 40,882,236 (GRCm39) T15I possibly damaging Het
Tgm2 G A 2: 157,962,188 (GRCm39) R544* probably null Het
Tmem116 T A 5: 121,605,918 (GRCm39) I90K Het
Tmem30c A C 16: 57,086,777 (GRCm39) L342R probably damaging Het
Trpm6 C T 19: 18,755,949 (GRCm39) T64I probably benign Het
Ttll8 A G 15: 88,819,159 (GRCm39) probably null Het
Vcpip1 A G 1: 9,816,307 (GRCm39) I692T probably damaging Het
Vmn1r169 T G 7: 23,276,853 (GRCm39) F82V probably benign Het
Vmn1r178 G A 7: 23,593,378 (GRCm39) C142Y probably benign Het
Vmn2r16 T A 5: 109,488,331 (GRCm39) Y401* probably null Het
Wdr91 A G 6: 34,869,375 (GRCm39) V383A probably benign 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
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'- AGTGCTTCCAGCTTTATCCAAG -3'
(R):5'- GCGAGTTACACATCAACAATGTTG -3'

Sequencing Primer
(F):5'- CGATGAGGAACGAGTTGT -3'
(R):5'- CACGTGTGATTTGTACATGG -3'
Posted On 2019-06-26