Incidental Mutation 'R6283:Dhx57'
ID 508081
Institutional Source Beutler Lab
Gene Symbol Dhx57
Ensembl Gene ENSMUSG00000035051
Gene Name DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57
Synonyms
MMRRC Submission 044453-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R6283 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 80238304-80290476 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80274805 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 404 (V404A)
Ref Sequence ENSEMBL: ENSMUSP00000041069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038166] [ENSMUST00000086555]
AlphaFold Q6P5D3
Predicted Effect probably benign
Transcript: ENSMUST00000038166
AA Change: V404A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: V404A

DomainStartEndE-ValueType
low complexity region 6 50 N/A INTRINSIC
low complexity region 116 125 N/A INTRINSIC
UBA 129 166 1.04e-3 SMART
ZnF_C3H1 246 272 4.07e-6 SMART
low complexity region 357 368 N/A INTRINSIC
low complexity region 381 390 N/A INTRINSIC
low complexity region 423 432 N/A INTRINSIC
DEXDc 490 678 1.27e-28 SMART
Blast:DEXDc 688 752 2e-28 BLAST
HELICc 810 918 3.22e-16 SMART
HA2 984 1074 1.64e-24 SMART
Pfam:OB_NTP_bind 1113 1262 1.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086555
AA Change: V457A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: V457A

DomainStartEndE-ValueType
low complexity region 6 50 N/A INTRINSIC
low complexity region 169 178 N/A INTRINSIC
UBA 182 219 1.04e-3 SMART
ZnF_C3H1 299 325 4.07e-6 SMART
low complexity region 410 421 N/A INTRINSIC
low complexity region 434 443 N/A INTRINSIC
low complexity region 476 485 N/A INTRINSIC
DEXDc 543 731 1.27e-28 SMART
Blast:DEXDc 741 805 1e-28 BLAST
HELICc 863 971 3.22e-16 SMART
HA2 1037 1127 1.64e-24 SMART
Pfam:OB_NTP_bind 1166 1315 8.5e-25 PFAM
Meta Mutation Damage Score 0.0612 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (59/59)
Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik G A 9: 103,282,635 (GRCm38) R14* probably null Het
Acsf3 C A 8: 122,785,955 (GRCm38) R372S probably damaging Het
Adamts20 A G 15: 94,351,721 (GRCm38) S472P probably benign Het
Bhlhe40 T C 6: 108,665,031 (GRCm38) L312P probably damaging Het
Ccdc180 A G 4: 45,902,486 (GRCm38) E305G possibly damaging Het
Ccdc83 T A 7: 90,236,407 (GRCm38) R257* probably null Het
Cd209e G A 8: 3,849,212 (GRCm38) Q167* probably null Het
Cd300e G A 11: 115,054,554 (GRCm38) T138I probably benign Het
Ces2c A T 8: 104,849,699 (GRCm38) M115L probably benign Het
Cfap61 T A 2: 146,129,102 (GRCm38) probably null Het
Chd1l G A 3: 97,587,167 (GRCm38) A399V probably damaging Het
Cic C T 7: 25,286,034 (GRCm38) S301L probably damaging Het
Cks2 A G 13: 51,645,459 (GRCm38) H16R probably benign Het
Copa A T 1: 172,118,848 (GRCm38) H953L possibly damaging Het
Ctdsp2 T C 10: 126,995,880 (GRCm38) V145A possibly damaging Het
Cyp2j13 A G 4: 96,056,837 (GRCm38) V377A possibly damaging Het
Dock2 T C 11: 34,707,325 (GRCm38) S340G probably damaging Het
Ggps1 A G 13: 14,057,794 (GRCm38) probably null Het
Gm10549 C A 18: 33,464,305 (GRCm38) probably benign Het
Gm11444 T C 11: 85,846,791 (GRCm38) probably null Het
Gm853 A G 4: 130,221,741 (GRCm38) S5P probably benign Het
Grina A G 15: 76,248,551 (GRCm38) T173A possibly damaging Het
Hcrtr1 G A 4: 130,135,340 (GRCm38) T223I probably benign Het
Igsf10 T A 3: 59,319,449 (GRCm38) T2268S probably damaging Het
Ino80d C T 1: 63,062,126 (GRCm38) R447Q probably damaging Het
Inpp4b C T 8: 81,770,833 (GRCm38) T94M probably damaging Het
Itga2 A G 13: 114,869,250 (GRCm38) Y465H probably damaging Het
Knl1 A G 2: 119,070,286 (GRCm38) T823A probably damaging Het
Krtap4-16 A G 11: 99,851,035 (GRCm38) S180P unknown Het
Lpar6 A T 14: 73,238,857 (GRCm38) D86V probably damaging Het
Muc5ac C A 7: 141,816,864 (GRCm38) C2500* probably null Het
Mzf1 T C 7: 13,053,369 (GRCm38) probably benign Het
Olfr1032 G T 2: 86,008,099 (GRCm38) V108L possibly damaging Het
Olfr1176 T A 2: 88,339,658 (GRCm38) I31N probably benign Het
Olfr1311 A C 2: 112,021,260 (GRCm38) M198R possibly damaging Het
Olfr1352 T C 10: 78,984,279 (GRCm38) V163A probably benign Het
Otogl T G 10: 107,790,500 (GRCm38) E1501A probably damaging Het
Pcdh10 T A 3: 45,381,554 (GRCm38) S768T possibly damaging Het
Pcnx2 G T 8: 125,877,586 (GRCm38) Q644K probably damaging Het
Pdzd9 T A 7: 120,660,226 (GRCm38) I180F possibly damaging Het
Pinx1 A C 14: 63,878,172 (GRCm38) N152T probably benign Het
Prr14l T C 5: 32,830,264 (GRCm38) E629G probably benign Het
Qpctl T A 7: 19,148,420 (GRCm38) I104F probably benign Het
Rabep1 C T 11: 70,917,679 (GRCm38) A444V probably damaging Het
Rnf150 A G 8: 82,990,554 (GRCm38) Y230C probably damaging Het
Slc25a27 A C 17: 43,657,730 (GRCm38) V152G probably damaging Het
Swt1 A G 1: 151,384,333 (GRCm38) S772P possibly damaging Het
Tenm4 A G 7: 96,874,494 (GRCm38) T1711A probably benign Het
Tfap2d G C 1: 19,104,478 (GRCm38) G52R probably benign Het
Tmem265 T G 7: 127,564,872 (GRCm38) V86G possibly damaging Het
Trpm8 C T 1: 88,348,332 (GRCm38) H551Y probably benign Het
Ttc6 T G 12: 57,702,262 (GRCm38) Y1327D possibly damaging Het
Uevld G T 7: 46,937,981 (GRCm38) Q324K possibly damaging Het
Vmn2r111 T C 17: 22,559,051 (GRCm38) N549S possibly damaging Het
Vmn2r73 C T 7: 85,871,841 (GRCm38) M306I probably benign Het
Vmn2r93 T A 17: 18,304,104 (GRCm38) M120K probably benign Het
Zfp804b T A 5: 6,769,908 (GRCm38) I1016F probably benign Het
Zfp90 T C 8: 106,425,394 (GRCm38) C580R probably damaging Het
Other mutations in Dhx57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Dhx57 APN 17 80,274,976 (GRCm38) missense probably benign 0.00
IGL00811:Dhx57 APN 17 80,253,243 (GRCm38) missense probably damaging 1.00
IGL01389:Dhx57 APN 17 80,281,223 (GRCm38) missense probably benign 0.28
IGL01468:Dhx57 APN 17 80,255,610 (GRCm38) nonsense probably null
IGL01908:Dhx57 APN 17 80,251,443 (GRCm38) missense probably damaging 1.00
IGL01965:Dhx57 APN 17 80,268,850 (GRCm38) missense probably damaging 1.00
IGL02147:Dhx57 APN 17 80,260,323 (GRCm38) missense possibly damaging 0.95
IGL02275:Dhx57 APN 17 80,274,839 (GRCm38) missense probably benign 0.13
IGL02349:Dhx57 APN 17 80,255,571 (GRCm38) missense probably damaging 1.00
IGL02405:Dhx57 APN 17 80,255,550 (GRCm38) critical splice donor site probably null
IGL02588:Dhx57 APN 17 80,268,871 (GRCm38) missense probably damaging 1.00
IGL02673:Dhx57 APN 17 80,267,545 (GRCm38) missense probably damaging 1.00
IGL02836:Dhx57 APN 17 80,267,549 (GRCm38) missense probably damaging 1.00
IGL02889:Dhx57 APN 17 80,247,152 (GRCm38) missense possibly damaging 0.90
IGL03085:Dhx57 APN 17 80,258,097 (GRCm38) missense possibly damaging 0.48
P0014:Dhx57 UTSW 17 80,275,191 (GRCm38) missense probably benign 0.00
PIT4377001:Dhx57 UTSW 17 80,263,975 (GRCm38) missense probably damaging 0.96
R0100:Dhx57 UTSW 17 80,275,156 (GRCm38) missense possibly damaging 0.82
R0100:Dhx57 UTSW 17 80,275,156 (GRCm38) missense possibly damaging 0.82
R0129:Dhx57 UTSW 17 80,238,914 (GRCm38) missense probably damaging 1.00
R0200:Dhx57 UTSW 17 80,251,473 (GRCm38) missense probably damaging 1.00
R0309:Dhx57 UTSW 17 80,274,881 (GRCm38) missense probably damaging 1.00
R0375:Dhx57 UTSW 17 80,258,121 (GRCm38) missense probably damaging 1.00
R0396:Dhx57 UTSW 17 80,274,797 (GRCm38) missense probably benign 0.34
R0520:Dhx57 UTSW 17 80,258,175 (GRCm38) missense possibly damaging 0.95
R0554:Dhx57 UTSW 17 80,260,236 (GRCm38) nonsense probably null
R0661:Dhx57 UTSW 17 80,268,864 (GRCm38) missense probably damaging 1.00
R0883:Dhx57 UTSW 17 80,270,371 (GRCm38) missense probably damaging 1.00
R0900:Dhx57 UTSW 17 80,275,582 (GRCm38) missense probably benign
R0963:Dhx57 UTSW 17 80,275,527 (GRCm38) missense probably benign 0.01
R1469:Dhx57 UTSW 17 80,254,418 (GRCm38) missense probably damaging 1.00
R1469:Dhx57 UTSW 17 80,254,418 (GRCm38) missense probably damaging 1.00
R1660:Dhx57 UTSW 17 80,245,728 (GRCm38) missense possibly damaging 0.83
R1707:Dhx57 UTSW 17 80,275,226 (GRCm38) missense probably damaging 0.96
R1822:Dhx57 UTSW 17 80,253,085 (GRCm38) critical splice donor site probably null
R1853:Dhx57 UTSW 17 80,274,879 (GRCm38) nonsense probably null
R1942:Dhx57 UTSW 17 80,265,144 (GRCm38) missense probably damaging 1.00
R2043:Dhx57 UTSW 17 80,253,080 (GRCm38) splice site probably benign
R2106:Dhx57 UTSW 17 80,275,363 (GRCm38) missense probably damaging 1.00
R2127:Dhx57 UTSW 17 80,273,048 (GRCm38) missense probably damaging 1.00
R2183:Dhx57 UTSW 17 80,275,331 (GRCm38) missense probably benign 0.07
R2249:Dhx57 UTSW 17 80,281,234 (GRCm38) missense probably damaging 0.98
R2400:Dhx57 UTSW 17 80,260,416 (GRCm38) missense probably damaging 0.99
R2404:Dhx57 UTSW 17 80,254,304 (GRCm38) missense probably damaging 0.98
R2513:Dhx57 UTSW 17 80,241,949 (GRCm38) splice site probably null
R2869:Dhx57 UTSW 17 80,251,376 (GRCm38) missense probably benign 0.22
R2869:Dhx57 UTSW 17 80,251,376 (GRCm38) missense probably benign 0.22
R2870:Dhx57 UTSW 17 80,251,376 (GRCm38) missense probably benign 0.22
R2870:Dhx57 UTSW 17 80,251,376 (GRCm38) missense probably benign 0.22
R2871:Dhx57 UTSW 17 80,251,376 (GRCm38) missense probably benign 0.22
R2871:Dhx57 UTSW 17 80,251,376 (GRCm38) missense probably benign 0.22
R2874:Dhx57 UTSW 17 80,251,376 (GRCm38) missense probably benign 0.22
R3819:Dhx57 UTSW 17 80,265,074 (GRCm38) critical splice donor site probably null
R3964:Dhx57 UTSW 17 80,265,112 (GRCm38) nonsense probably null
R4535:Dhx57 UTSW 17 80,275,082 (GRCm38) missense probably damaging 1.00
R4666:Dhx57 UTSW 17 80,274,961 (GRCm38) missense probably damaging 1.00
R4788:Dhx57 UTSW 17 80,275,331 (GRCm38) missense probably benign 0.01
R4822:Dhx57 UTSW 17 80,242,167 (GRCm38) splice site probably null
R4863:Dhx57 UTSW 17 80,253,111 (GRCm38) missense probably damaging 1.00
R4988:Dhx57 UTSW 17 80,251,398 (GRCm38) missense probably damaging 1.00
R5391:Dhx57 UTSW 17 80,275,081 (GRCm38) missense probably damaging 1.00
R5559:Dhx57 UTSW 17 80,254,379 (GRCm38) missense possibly damaging 0.53
R5644:Dhx57 UTSW 17 80,238,873 (GRCm38) missense possibly damaging 0.73
R5997:Dhx57 UTSW 17 80,245,806 (GRCm38) missense probably damaging 0.96
R6090:Dhx57 UTSW 17 80,263,946 (GRCm38) critical splice donor site probably null
R6177:Dhx57 UTSW 17 80,272,966 (GRCm38) missense possibly damaging 0.91
R6802:Dhx57 UTSW 17 80,275,321 (GRCm38) missense probably benign 0.43
R6924:Dhx57 UTSW 17 80,238,815 (GRCm38) missense possibly damaging 0.71
R7151:Dhx57 UTSW 17 80,273,047 (GRCm38) missense probably damaging 1.00
R7386:Dhx57 UTSW 17 80,267,577 (GRCm38) missense possibly damaging 0.89
R7393:Dhx57 UTSW 17 80,255,571 (GRCm38) missense probably damaging 1.00
R7451:Dhx57 UTSW 17 80,247,113 (GRCm38) missense probably damaging 1.00
R7602:Dhx57 UTSW 17 80,274,861 (GRCm38) missense probably benign 0.06
R7733:Dhx57 UTSW 17 80,265,074 (GRCm38) critical splice donor site probably null
R7748:Dhx57 UTSW 17 80,265,117 (GRCm38) missense probably damaging 1.00
R7749:Dhx57 UTSW 17 80,238,858 (GRCm38) missense probably benign 0.04
R7772:Dhx57 UTSW 17 80,273,078 (GRCm38) missense possibly damaging 0.71
R8213:Dhx57 UTSW 17 80,275,156 (GRCm38) missense possibly damaging 0.82
R8370:Dhx57 UTSW 17 80,245,763 (GRCm38) missense probably damaging 1.00
R8371:Dhx57 UTSW 17 80,275,490 (GRCm38) missense probably benign 0.18
R8403:Dhx57 UTSW 17 80,278,289 (GRCm38) missense probably damaging 1.00
R8467:Dhx57 UTSW 17 80,254,424 (GRCm38) missense probably damaging 1.00
R8690:Dhx57 UTSW 17 80,270,365 (GRCm38) critical splice donor site probably benign
R9210:Dhx57 UTSW 17 80,268,909 (GRCm38) missense probably damaging 1.00
R9212:Dhx57 UTSW 17 80,268,909 (GRCm38) missense probably damaging 1.00
R9447:Dhx57 UTSW 17 80,242,094 (GRCm38) missense probably damaging 1.00
R9562:Dhx57 UTSW 17 80,254,388 (GRCm38) missense probably damaging 1.00
R9669:Dhx57 UTSW 17 80,245,701 (GRCm38) missense probably benign 0.09
R9717:Dhx57 UTSW 17 80,275,018 (GRCm38) missense probably damaging 1.00
Z1088:Dhx57 UTSW 17 80,251,348 (GRCm38) missense probably damaging 1.00
Z1176:Dhx57 UTSW 17 80,245,805 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGTCATAGTTACAGGCAGGCAC -3'
(R):5'- TCTGAGTTCCTTTATGGCAAGG -3'

Sequencing Primer
(F):5'- TTACAGGCAGGCACAAGGACC -3'
(R):5'- GGCCTTGGAATTTGCAAAAAC -3'
Posted On 2018-03-15