Incidental Mutation 'R4788:Dhx57'
ID 367284
Institutional Source Beutler Lab
Gene Symbol Dhx57
Ensembl Gene ENSMUSG00000035051
Gene Name DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57
Synonyms
Accession Numbers

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

Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R4788 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 80238304-80290476 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80275331 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 229 (T229A)
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: T229A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000041069
Gene: ENSMUSG00000035051
AA Change: T229A

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: T282A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000083742
Gene: ENSMUSG00000035051
AA Change: T282A

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: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI

All alleles(25) : Gene trapped(25)

Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik A T 1: 37,631,475 (GRCm38) I128K probably damaging Het
Abca4 G A 3: 122,166,712 (GRCm38) D815N probably damaging Het
Abcc9 A T 6: 142,620,730 (GRCm38) C1135* probably null Het
Ap3b1 G A 13: 94,565,641 (GRCm38) M1067I unknown Het
Arhgap15 T C 2: 43,748,890 (GRCm38) M1T probably null Het
Boc T C 16: 44,500,433 (GRCm38) D288G probably damaging Het
Brsk1 G T 7: 4,698,955 (GRCm38) probably null Het
Cabp1 T C 5: 115,175,471 (GRCm38) N226S probably benign Het
Capn13 A T 17: 73,337,432 (GRCm38) Y367* probably null Het
Ccdc191 A G 16: 43,956,822 (GRCm38) E632G probably damaging Het
Cit T C 5: 115,933,506 (GRCm38) S591P probably damaging Het
Ckmt1 T C 2: 121,359,946 (GRCm38) V118A possibly damaging Het
Cndp2 T C 18: 84,675,164 (GRCm38) N157S probably damaging Het
Col6a3 A G 1: 90,772,950 (GRCm38) probably null Het
Coq2 A T 5: 100,657,909 (GRCm38) V287E probably damaging Het
Cpa6 T C 1: 10,408,277 (GRCm38) K278R possibly damaging Het
Cybb C G X: 9,450,750 (GRCm38) D246H probably benign Het
Cyp3a25 A T 5: 145,985,082 (GRCm38) Y347* probably null Het
Dcun1d4 G T 5: 73,534,628 (GRCm38) W160L probably damaging Het
Dennd4c A G 4: 86,819,963 (GRCm38) T994A probably benign Het
Dnah6 T A 6: 73,129,530 (GRCm38) R1741S probably damaging Het
Dock1 T A 7: 135,145,484 (GRCm38) V1508D probably damaging Het
Donson T C 16: 91,687,833 (GRCm38) T117A possibly damaging Het
Dtnb A G 12: 3,772,699 (GRCm38) D533G probably damaging Het
Fcrl5 A G 3: 87,457,188 (GRCm38) N470S probably damaging Het
Focad T A 4: 88,357,469 (GRCm38) V1105E unknown Het
Fry T C 5: 150,399,636 (GRCm38) V1084A probably benign Het
Gabra1 G T 11: 42,147,153 (GRCm38) R213S probably damaging Het
Gbp2b A C 3: 142,611,410 (GRCm38) K509T probably benign Het
Gprc6a T C 10: 51,615,008 (GRCm38) T811A probably benign Het
Hmgcs2 A G 3: 98,291,084 (GRCm38) D101G probably damaging Het
Ifna11 G A 4: 88,820,008 (GRCm38) W17* probably null Het
Ighv1-62-3 T A 12: 115,461,052 (GRCm38) M100L probably benign Het
Lgmn T A 12: 102,402,677 (GRCm38) Y181F probably benign Het
Map4k4 T C 1: 40,003,916 (GRCm38) S644P probably benign Het
Med9 T A 11: 59,948,440 (GRCm38) N58K probably benign Het
Nav1 C T 1: 135,469,723 (GRCm38) A903T probably benign Het
Nop53 T C 7: 15,942,315 (GRCm38) E153G possibly damaging Het
Nop56 G T 2: 130,278,900 (GRCm38) V190L probably benign Het
Nyap2 A T 1: 81,269,397 (GRCm38) M687L probably benign Het
Olfr1254 G A 2: 89,789,136 (GRCm38) S72F probably damaging Het
Olfr146 T C 9: 39,018,921 (GRCm38) T207A probably benign Het
Olfr943 A G 9: 39,184,612 (GRCm38) T145A probably benign Het
Osbp2 T C 11: 3,863,320 (GRCm38) K183R probably benign Het
Pappa2 A G 1: 158,783,917 (GRCm38) V1492A possibly damaging Het
Pax1 A G 2: 147,366,204 (GRCm38) Q244R possibly damaging Het
Pcdh9 C A 14: 93,887,415 (GRCm38) V317F probably damaging Het
Pkhd1l1 A T 15: 44,498,021 (GRCm38) Q489L probably damaging Het
Poln A T 5: 34,129,331 (GRCm38) S164R probably benign Het
Ptf1a T C 2: 19,445,951 (GRCm38) S31P probably benign Het
Rasal3 A T 17: 32,399,338 (GRCm38) D164E probably benign Het
Rnf170 A G 8: 26,140,863 (GRCm38) E168G probably damaging Het
Rubcn A G 16: 32,836,408 (GRCm38) probably null Het
Sec16b A T 1: 157,561,524 (GRCm38) T830S possibly damaging Het
Sel1l3 A G 5: 53,131,833 (GRCm38) V882A probably benign Het
Sfpq A G 4: 127,025,998 (GRCm38) E512G probably damaging Het
Sh3pxd2a A G 19: 47,314,079 (GRCm38) L187P probably damaging Het
Skint6 C T 4: 113,238,336 (GRCm38) G42D possibly damaging Het
Slc7a2 A G 8: 40,913,986 (GRCm38) I526V probably benign Het
Spata48 T C 11: 11,488,652 (GRCm38) probably null Het
Ssh2 A T 11: 77,429,798 (GRCm38) N328Y probably damaging Het
Taok2 G A 7: 126,868,132 (GRCm38) S167L possibly damaging Het
Tcrg-V5 A G 13: 19,192,554 (GRCm38) K57R probably benign Het
Tom1l2 A G 11: 60,249,018 (GRCm38) L275P probably damaging Het
Tyrp1 C T 4: 80,844,943 (GRCm38) R356* probably null Het
Zan A G 5: 137,442,113 (GRCm38) L1953P unknown Het
Zfhx3 T C 8: 108,794,210 (GRCm38) S655P probably damaging Het
Zmym1 T C 4: 127,054,297 (GRCm38) T94A probably benign 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
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
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'- ATAAAGGTTGTGTCGTCATCAGC -3'
(R):5'- TCCGCCAGTGTTTCTCAGAG -3'

Sequencing Primer
(F):5'- TGTCGTCATCAGCGTCAAG -3'
(R):5'- CCAGTGTTTCTCAGAGACGTTTG -3'
Posted On 2015-12-29