Incidental Mutation 'R5997:Dhx57'
ID 480658
Institutional Source Beutler Lab
Gene Symbol Dhx57
Ensembl Gene ENSMUSG00000035051
Gene Name DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57
Synonyms
MMRRC Submission 044176-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R5997 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 80238304-80290476 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 80245806 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 1231 (K1231Q)
Ref Sequence ENSEMBL: ENSMUSP00000083742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038166] [ENSMUST00000086555]
AlphaFold Q6P5D3
Predicted Effect possibly damaging
Transcript: ENSMUST00000038166
AA Change: K1178Q

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: K1178Q

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 damaging
Transcript: ENSMUST00000086555
AA Change: K1231Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: K1231Q

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 0.1534 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.5%
Validation Efficiency 100% (78/78)
Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 A T 5: 124,089,815 (GRCm38) V121E possibly damaging Het
Acsbg3 A T 17: 56,876,373 (GRCm38) D38V probably benign Het
Adamts20 T A 15: 94,379,747 (GRCm38) Y278F probably damaging Het
Adcy7 A T 8: 88,326,392 (GRCm38) D972V probably benign Het
Adgrf3 C A 5: 30,198,362 (GRCm38) probably null Het
Ahdc1 G T 4: 133,063,895 (GRCm38) G816C probably benign Het
Aifm3 A G 16: 17,502,130 (GRCm38) K283E probably benign Het
Akap6 T C 12: 52,937,233 (GRCm38) probably null Het
Ank1 T C 8: 23,099,662 (GRCm38) L593P probably damaging Het
Apol11b T A 15: 77,635,497 (GRCm38) T128S probably benign Het
C1qtnf7 C A 5: 43,616,085 (GRCm38) T235K probably damaging Het
Camk2a A T 18: 60,977,957 (GRCm38) I73F probably damaging Het
Ccdc121rt3 C T 5: 112,355,008 (GRCm38) V277M possibly damaging Het
Cd109 G T 9: 78,705,062 (GRCm38) V1244F possibly damaging Het
Cep164 A G 9: 45,769,463 (GRCm38) L1240S possibly damaging Het
Cnga1 T A 5: 72,604,575 (GRCm38) D532V probably damaging Het
Cyp4a14 A T 4: 115,496,100 (GRCm38) L5* probably null Het
Cyp4a30b A T 4: 115,459,391 (GRCm38) K405* probably null Het
Dchs1 T C 7: 105,754,095 (GRCm38) D3080G probably benign Het
Ddx1 T C 12: 13,237,799 (GRCm38) D168G probably damaging Het
Dnah14 A G 1: 181,770,105 (GRCm38) N3640D probably benign Het
Dock4 T A 12: 40,755,834 (GRCm38) L935Q probably damaging Het
Dus2 A T 8: 106,046,066 (GRCm38) R269S probably benign Het
E230025N22Rik G A 18: 36,689,108 (GRCm38) R201C possibly damaging Het
Erbb3 G A 10: 128,583,185 (GRCm38) T269M probably damaging Het
Fbxo43 T C 15: 36,162,093 (GRCm38) R323G probably damaging Het
Fktn A G 4: 53,735,061 (GRCm38) H233R probably benign Het
Ftsj3 A T 11: 106,252,251 (GRCm38) D412E probably damaging Het
Fzd7 A T 1: 59,484,544 (GRCm38) M529L probably benign Het
Fzr1 T A 10: 81,370,826 (GRCm38) probably null Het
Ganc T G 2: 120,430,605 (GRCm38) V257G possibly damaging Het
Garin1a T A 6: 29,290,424 (GRCm38) L267* probably null Het
Gm4131 T C 14: 62,464,758 (GRCm38) K254E probably damaging Het
Gm7347 G T 5: 26,057,249 (GRCm38) Y91* probably null Het
Gm9857 G A 3: 108,940,165 (GRCm38) probably benign Het
Grpel1 T C 5: 36,465,248 (GRCm38) S19P probably benign Het
Gtf3c4 T C 2: 28,833,711 (GRCm38) K670E possibly damaging Het
H2bc7 G A 13: 23,574,103 (GRCm38) probably benign Het
Hmcn1 G T 1: 150,704,173 (GRCm38) Q1938K possibly damaging Het
Hnrnpk T C 13: 58,399,157 (GRCm38) D71G probably damaging Het
Hspa4l G A 3: 40,767,979 (GRCm38) R311H probably damaging Het
Igkv3-5 T A 6: 70,663,704 (GRCm38) F56L probably benign Het
Igkv6-20 T A 6: 70,335,914 (GRCm38) T92S possibly damaging Het
Krt8 C T 15: 102,000,594 (GRCm38) V200I possibly damaging Het
Lamb2 A T 9: 108,480,388 (GRCm38) T66S possibly damaging Het
Lamp3 A G 16: 19,701,028 (GRCm38) L135S probably benign Het
Lrguk A G 6: 34,129,143 (GRCm38) Y701C probably damaging Het
Mcc G T 18: 44,449,321 (GRCm38) L588M probably damaging Het
Mcidas T A 13: 112,998,586 (GRCm38) L234Q probably damaging Het
Mtmr14 T A 6: 113,280,614 (GRCm38) L208Q probably damaging Het
Myof A G 19: 37,905,299 (GRCm38) F1139L possibly damaging Het
Nlrp14 C A 7: 107,182,496 (GRCm38) T300K probably benign Het
Or2d36 A T 7: 107,147,328 (GRCm38) E4V possibly damaging Het
Or2m13 T A 16: 19,407,944 (GRCm38) H24L probably benign Het
Or5b118 A G 19: 13,471,506 (GRCm38) I179V probably benign Het
Or8b41 A T 9: 38,143,801 (GRCm38) Y217F probably damaging Het
Orc2 A G 1: 58,472,388 (GRCm38) I354T probably damaging Het
Pard3b G T 1: 62,076,409 (GRCm38) S140I probably damaging Het
Pcgf5 A G 19: 36,434,603 (GRCm38) D49G probably benign Het
Pcsk6 T C 7: 65,959,293 (GRCm38) F388S probably damaging Het
Prokr2 A C 2: 132,381,442 (GRCm38) I60S probably damaging Het
Rab33b A G 3: 51,484,479 (GRCm38) T50A possibly damaging Het
Rbms3 T C 9: 116,719,389 (GRCm38) D61G probably damaging Het
Rhcg T A 7: 79,600,514 (GRCm38) K274* probably null Het
Rnf112 C T 11: 61,451,022 (GRCm38) V319M possibly damaging Het
Rnf44 A T 13: 54,682,800 (GRCm38) S265T possibly damaging Het
Sf3a3 A G 4: 124,722,058 (GRCm38) D168G probably damaging Het
Sik2 A G 9: 50,895,342 (GRCm38) probably null Het
Slco1a5 T A 6: 142,253,113 (GRCm38) L275F probably benign Het
Smtnl1 T C 2: 84,815,378 (GRCm38) H383R probably damaging Het
Spns3 T G 11: 72,539,078 (GRCm38) T175P probably damaging Het
Togaram1 A G 12: 64,995,538 (GRCm38) T1174A probably benign Het
Tradd C T 8: 105,260,645 (GRCm38) E10K possibly damaging Het
Ttc7b A T 12: 100,373,560 (GRCm38) Y579N probably damaging Het
Uncx G A 5: 139,547,589 (GRCm38) G470R probably damaging Het
Vav3 T A 3: 109,501,461 (GRCm38) M177K probably damaging Het
Wfs1 A T 5: 36,967,750 (GRCm38) I599N probably damaging Het
Zfp454 G A 11: 50,873,622 (GRCm38) H217Y 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
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
R6283:Dhx57 UTSW 17 80,274,805 (GRCm38) missense probably benign 0.00
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'- GGACAGACCGTGCTTCTCAT -3'
(R):5'- TTTAAGAAGCAAGTAACACAACAGC -3'

Sequencing Primer
(F):5'- GACAGACCGTGCTTCTCATTTGAG -3'
(R):5'- GAGAACTGGTTCATGCAAGCTATTCC -3'
Posted On 2017-06-26