Incidental Mutation 'R7772:Dhx57'
ID 598675
Institutional Source Beutler Lab
Gene Symbol Dhx57
Ensembl Gene ENSMUSG00000035051
Gene Name DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57
Synonyms
MMRRC Submission 045828-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R7772 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 80238304-80290476 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80273078 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 482 (D482N)
Ref Sequence ENSEMBL: ENSMUSP00000083742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038166] [ENSMUST00000086555]
AlphaFold Q6P5D3
Predicted Effect probably benign
Transcript: ENSMUST00000038166
AA Change: D429N

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: D429N

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 possibly damaging
Transcript: ENSMUST00000086555
AA Change: D482N

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: D482N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (68/69)
Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik T A 11: 3,889,784 (GRCm38) probably null Het
Adora3 T C 3: 105,907,723 (GRCm38) V263A probably benign Het
Adprhl1 C T 8: 13,248,682 (GRCm38) V83I probably damaging Het
Arfgef1 A G 1: 10,157,010 (GRCm38) V1368A possibly damaging Het
Arid4a A T 12: 71,061,589 (GRCm38) N56I possibly damaging Het
Art3 A T 5: 92,403,613 (GRCm38) Y277F probably damaging Het
Atp2a1 A T 7: 126,448,535 (GRCm38) probably null Het
Banf1 T C 19: 5,365,122 (GRCm38) K54E possibly damaging Het
Bckdk A G 7: 127,905,901 (GRCm38) Y151C probably damaging Het
C1qtnf3 C A 15: 10,958,044 (GRCm38) P58T possibly damaging Het
Cadps2 T C 6: 23,390,446 (GRCm38) R744G probably benign Het
Cdc25b A G 2: 131,189,109 (GRCm38) D118G probably damaging Het
Cnot9 G A 1: 74,526,992 (GRCm38) V181I probably damaging Het
Cobl C T 11: 12,254,488 (GRCm38) G738D probably benign Het
Col18a1 T A 10: 77,068,386 (GRCm38) probably null Het
Crnkl1 A G 2: 145,930,644 (GRCm38) V171A probably benign Het
Dpysl2 A T 14: 66,828,976 (GRCm38) probably null Het
Drd3 G T 16: 43,762,395 (GRCm38) A52S probably benign Het
Dst T C 1: 34,181,388 (GRCm38) V2091A possibly damaging Het
Evpl T C 11: 116,221,435 (GRCm38) T1810A probably benign Het
Fbxo2 T A 4: 148,164,326 (GRCm38) W92R probably damaging Het
Gas2l2 T A 11: 83,429,277 (GRCm38) D51V possibly damaging Het
Gm11232 A T 4: 71,756,581 (GRCm38) V228E possibly damaging Het
Gm14305 C T 2: 176,720,971 (GRCm38) Q219* probably null Het
Gpr137b T C 13: 13,359,406 (GRCm38) Y355C Het
Gpr39 G T 1: 125,677,597 (GRCm38) M87I possibly damaging Het
Heatr1 T C 13: 12,417,641 (GRCm38) M1089T probably benign Het
Ifi206 A T 1: 173,481,074 (GRCm38) M452K Het
Ints8 A T 4: 11,227,190 (GRCm38) I561N probably damaging Het
Itgb2 A T 10: 77,561,112 (GRCm38) K660N probably benign Het
Jun A C 4: 95,050,844 (GRCm38) V143G probably benign Het
Kalrn A G 16: 34,031,582 (GRCm38) M2076T probably benign Het
Krt10 G T 11: 99,389,087 (GRCm38) S82R unknown Het
Lipm T A 19: 34,117,891 (GRCm38) H295Q probably damaging Het
Mybpc2 A C 7: 44,515,924 (GRCm38) probably null Het
Nedd4 T C 9: 72,677,326 (GRCm38) V103A possibly damaging Het
Nol10 T C 12: 17,348,585 (GRCm38) I11T probably damaging Het
Nup210l A G 3: 90,159,926 (GRCm38) S758G probably damaging Het
Or13d1 T A 4: 52,970,713 (GRCm38) C31S probably damaging Het
Or52r1c T G 7: 103,086,181 (GRCm38) I216S probably benign Het
Or8d4 T C 9: 40,127,365 (GRCm38) I199V probably benign Het
Osbpl9 T C 4: 109,066,187 (GRCm38) H425R probably damaging Het
Parp1 G T 1: 180,589,398 (GRCm38) R582S possibly damaging Het
Piwil1 A T 5: 128,739,463 (GRCm38) R36S probably benign Het
Pjvk T C 2: 76,657,533 (GRCm38) probably null Het
Plekha6 G T 1: 133,170,022 (GRCm38) E31D possibly damaging Het
Polr1b C A 2: 129,125,544 (GRCm38) F952L probably damaging Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,790,701 (GRCm38) probably benign Het
Psmc6 T A 14: 45,343,650 (GRCm38) I301N probably damaging Het
Rfpl4 C A 7: 5,115,544 (GRCm38) S9I probably benign Het
Rnf14 G T 18: 38,309,576 (GRCm38) C310F probably damaging Het
Rnf17 T A 14: 56,477,687 (GRCm38) F845L probably benign Het
Robo2 T C 16: 73,961,889 (GRCm38) I665V probably benign Het
Rtl1 T A 12: 109,593,185 (GRCm38) H740L probably damaging Het
Ryr2 A G 13: 11,751,011 (GRCm38) S1280P probably benign Het
Slc12a8 G A 16: 33,550,965 (GRCm38) R126H probably damaging Het
Slc9a1 T C 4: 133,411,965 (GRCm38) F165L probably damaging Het
Snx19 T C 9: 30,428,925 (GRCm38) I453T probably damaging Het
Spag17 T C 3: 100,080,118 (GRCm38) Y1575H probably damaging Het
Spef2 T C 15: 9,704,481 (GRCm38) I415M probably damaging Het
Ssx2ip T G 3: 146,433,130 (GRCm38) I459S probably damaging Het
Stfa1 A G 16: 36,277,001 (GRCm38) probably null Het
Tmem156 A T 5: 65,080,174 (GRCm38) S48T probably damaging Het
Tmx3 T A 18: 90,527,794 (GRCm38) probably null Het
Unc93a A T 17: 13,109,752 (GRCm38) F405I possibly damaging Het
Vmn1r209 T A 13: 22,806,494 (GRCm38) I9F possibly damaging Het
Vmn2r93 A G 17: 18,313,220 (GRCm38) D462G probably damaging Het
Wdr90 T A 17: 25,861,491 (GRCm38) probably benign Het
Zfp551 T C 7: 12,418,608 (GRCm38) D66G probably damaging Het
Znrf4 A C 17: 56,512,247 (GRCm38) V20G possibly damaging Het
Zscan4d T C 7: 11,162,843 (GRCm38) E200G probably benign Het
Zup1 A T 10: 33,921,702 (GRCm38) probably null 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
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
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'- GGAGTTTTAACGTTCAGAGCAAAC -3'
(R):5'- CCCTGTTTCAGAGCAGTATGG -3'

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