Incidental Mutation 'R7393:Dhx57'
ID 573629
Institutional Source Beutler Lab
Gene Symbol Dhx57
Ensembl Gene ENSMUSG00000035051
Gene Name DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57
Synonyms
MMRRC Submission 045475-MU
Accession Numbers

NCBI RefSeq: NM_001163759.1, NM_198942.2; MGI:2147067

Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R7393 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 80238304-80290476 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80255571 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 876 (N876Y)
Ref Sequence ENSEMBL: ENSMUSP00000083742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038166] [ENSMUST00000086555]
AlphaFold Q6P5D3
Predicted Effect probably damaging
Transcript: ENSMUST00000038166
AA Change: N823Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: N823Y

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: N876Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: N876Y

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: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010107E04Rik A G 12: 111,963,277 (GRCm38) V26A probably benign Het
Abcb11 C T 2: 69,299,867 (GRCm38) D282N probably damaging Het
Abi2 T C 1: 60,434,382 (GRCm38) M86T possibly damaging Het
Adam26a T C 8: 43,569,688 (GRCm38) N255S probably benign Het
Adam4 G A 12: 81,419,660 (GRCm38) S729L probably benign Het
Adcy1 G T 11: 7,137,381 (GRCm38) W418C probably damaging Het
Add2 T A 6: 86,098,647 (GRCm38) Y259* probably null Het
Agl A T 3: 116,791,156 (GRCm38) C172S probably benign Het
Ankfy1 A G 11: 72,738,308 (GRCm38) T319A possibly damaging Het
Armc8 A T 9: 99,483,999 (GRCm38) C621S possibly damaging Het
Bbc3 A G 7: 16,313,789 (GRCm38) D146G probably benign Het
Btnl10 T C 11: 58,923,706 (GRCm38) L404P probably damaging Het
Cbl A G 9: 44,154,188 (GRCm38) probably null Het
Ccdc170 T A 10: 4,514,314 (GRCm38) probably null Het
Ccdc91 T A 6: 147,534,029 (GRCm38) V37E possibly damaging Het
Ces1e G T 8: 93,210,417 (GRCm38) T343K probably benign Het
Chfr T A 5: 110,152,358 (GRCm38) F323I probably damaging Het
Clcnkb T A 4: 141,409,445 (GRCm38) M370L probably benign Het
Col11a1 A G 3: 114,097,106 (GRCm38) D364G unknown Het
Ctbp2 A G 7: 132,988,292 (GRCm38) I381T probably benign Het
Cyp4a29 A C 4: 115,242,196 (GRCm38) Y38S probably damaging Het
Ddx1 T C 12: 13,230,353 (GRCm38) D382G probably benign Het
Dsel C T 1: 111,861,573 (GRCm38) G411S probably damaging Het
Enpp5 G A 17: 44,085,264 (GRCm38) G356S probably damaging Het
Fam234a T C 17: 26,216,624 (GRCm38) D262G probably benign Het
Fnbp4 C A 2: 90,779,316 (GRCm38) Q1035K probably damaging Het
Gbp11 T A 5: 105,327,577 (GRCm38) N302Y possibly damaging Het
Gm11554 T A 11: 99,803,872 (GRCm38) T172S unknown Het
Hamp2 A T 7: 30,922,605 (GRCm38) M53K possibly damaging Het
Kcnj1 A G 9: 32,397,018 (GRCm38) D246G probably damaging Het
Kctd20 T C 17: 28,963,338 (GRCm38) F209L probably damaging Het
Klra2 T C 6: 131,230,202 (GRCm38) Y148C probably damaging Het
Krtap15 T C 16: 88,829,097 (GRCm38) probably null Het
Mrps23 T C 11: 88,204,458 (GRCm38) L6P probably damaging Het
Ms4a6d G A 19: 11,590,073 (GRCm38) Q155* probably null Het
Myo7a G A 7: 98,063,699 (GRCm38) R1690C possibly damaging Het
Nbas T C 12: 13,393,492 (GRCm38) S1183P probably damaging Het
Ndufaf4 T A 4: 24,903,177 (GRCm38) M122K probably benign Het
Nop2 C A 6: 125,133,546 (GRCm38) S45* probably null Het
Nop56 T A 2: 130,274,638 (GRCm38) L3Q probably benign Het
Nrp2 T C 1: 62,745,424 (GRCm38) I244T probably damaging Het
Olfr1426 T A 19: 12,088,628 (GRCm38) T55S probably benign Het
Olfr620 A G 7: 103,611,991 (GRCm38) S121P possibly damaging Het
Otof T C 5: 30,370,270 (GRCm38) D1941G probably benign Het
Pcyox1l T C 18: 61,697,641 (GRCm38) K387E probably benign Het
Plcg2 A G 8: 117,579,825 (GRCm38) Y306C possibly damaging Het
Ppp1r13b G A 12: 111,838,754 (GRCm38) P333S probably damaging Het
Rcc2 A G 4: 140,717,030 (GRCm38) D344G probably damaging Het
Reln A T 5: 21,976,351 (GRCm38) N1810K probably damaging Het
Rfesd G T 13: 76,003,030 (GRCm38) A90E probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,917 (GRCm38) probably benign Het
Scg2 T C 1: 79,435,231 (GRCm38) K552E probably damaging Het
Sdccag8 A G 1: 176,840,306 (GRCm38) I190V probably benign Het
Sele C A 1: 164,053,923 (GRCm38) T533K probably benign Het
Sh3bp4 T A 1: 89,144,448 (GRCm38) H339Q possibly damaging Het
Slc6a19 A G 13: 73,692,974 (GRCm38) S106P probably benign Het
Spidr C T 16: 16,146,831 (GRCm38) probably benign Het
Stk36 A T 1: 74,611,193 (GRCm38) K295* probably null Het
Synj1 A T 16: 90,951,999 (GRCm38) D1056E probably damaging Het
Tnks1bp1 T C 2: 85,062,866 (GRCm38) S1046P probably benign Het
Ttc27 T G 17: 74,770,264 (GRCm38) F385V possibly damaging Het
Ttn C A 2: 76,944,345 (GRCm38) G2164W unknown Het
Ubap1 T A 4: 41,379,764 (GRCm38) L326* probably null Het
Ubr4 A G 4: 139,426,785 (GRCm38) N812S probably damaging Het
Vmn1r160 A G 7: 22,871,353 (GRCm38) T44A possibly damaging Het
Vmn1r28 G A 6: 58,265,589 (GRCm38) S139N possibly damaging Het
Vmn2r116 A G 17: 23,386,125 (GRCm38) I137M probably benign Het
Vmn2r67 A T 7: 85,155,878 (GRCm38) W9R probably null Het
Zfp101 T C 17: 33,386,700 (GRCm38) N45D possibly 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
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
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'- AGAGGTCTCCCCTTTCTAGC -3'
(R):5'- TTGGAAAGGGGTAAGACTATTTTGTCC -3'

Sequencing Primer
(F):5'- CTGGCATAAACAATCGCATGCTTG -3'
(R):5'- GCTGATAGTGAAAAGTTACCAGATTG -3'
Posted On 2019-09-13