Incidental Mutation 'R1023:Dqx1'
ID 94623
Institutional Source Beutler Lab
Gene Symbol Dqx1
Ensembl Gene ENSMUSG00000009145
Gene Name DEAQ RNA-dependent ATPase
Synonyms 2310066E11Rik
MMRRC Submission 039125-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R1023 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 83034825-83044299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83038070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 486 (C486Y)
Ref Sequence ENSEMBL: ENSMUSP00000076708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077502] [ENSMUST00000092618] [ENSMUST00000204803]
AlphaFold Q924H9
Predicted Effect probably damaging
Transcript: ENSMUST00000077502
AA Change: C486Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145
AA Change: C486Y

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DEXDc 30 236 5.01e-4 SMART
low complexity region 268 280 N/A INTRINSIC
low complexity region 288 301 N/A INTRINSIC
HA2 441 530 4e-19 SMART
Pfam:OB_NTP_bind 555 674 2.2e-11 PFAM
low complexity region 695 708 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092618
SMART Domains Protein: ENSMUSP00000090281
Gene: ENSMUSG00000068328

DomainStartEndE-ValueType
low complexity region 10 40 N/A INTRINSIC
transmembrane domain 52 74 N/A INTRINSIC
PlsC 119 222 1.04e-1 SMART
low complexity region 307 322 N/A INTRINSIC
CUE 325 366 1.3e-9 SMART
low complexity region 378 392 N/A INTRINSIC
low complexity region 421 439 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203180
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203749
Predicted Effect probably benign
Transcript: ENSMUST00000203915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204510
Predicted Effect probably benign
Transcript: ENSMUST00000204719
Predicted Effect probably benign
Transcript: ENSMUST00000204343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204895
Predicted Effect probably benign
Transcript: ENSMUST00000204803
SMART Domains Protein: ENSMUSP00000144697
Gene: ENSMUSG00000009145

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DEXDc 30 236 2.1e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204752
Meta Mutation Damage Score 0.9641 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,772,632 (GRCm39) A607V probably damaging Het
4930523C07Rik A G 1: 159,905,057 (GRCm39) probably benign Het
Ap3d1 A T 10: 80,550,092 (GRCm39) L713Q probably damaging Het
Baz2a A G 10: 127,957,676 (GRCm39) T1010A possibly damaging Het
Cdh15 T C 8: 123,591,939 (GRCm39) I608T probably damaging Het
Cdkl2 A T 5: 92,187,145 (GRCm39) D40E possibly damaging Het
Col9a2 G A 4: 120,901,207 (GRCm39) G118R unknown Het
Cryge C A 1: 65,089,945 (GRCm39) C79F probably damaging Het
Dapk1 T C 13: 60,878,799 (GRCm39) L596P probably damaging Het
Dync2i1 T C 12: 116,196,277 (GRCm39) E490G probably damaging Het
Enam A G 5: 88,649,826 (GRCm39) Q445R probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gnpat A T 8: 125,597,519 (GRCm39) D27V probably benign Het
Htr5a A T 5: 28,047,996 (GRCm39) T184S possibly damaging Het
Lap3 C T 5: 45,652,553 (GRCm39) P50S probably benign Het
Mamdc2 A T 19: 23,288,271 (GRCm39) M589K probably damaging Het
Mast4 A G 13: 102,872,004 (GRCm39) S2263P probably benign Het
Mef2b C T 8: 70,618,247 (GRCm39) P109L possibly damaging Het
Meltf T A 16: 31,703,778 (GRCm39) F168L probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Nup205 T A 6: 35,211,641 (GRCm39) F1661I probably damaging Het
Or11h4b A T 14: 50,918,473 (GRCm39) L206H probably damaging Het
Or5h19 A T 16: 58,856,178 (GRCm39) N307K probably benign Het
Plac8 A T 5: 100,704,447 (GRCm39) D83E probably benign Het
Pnpt1 T C 11: 29,091,328 (GRCm39) probably benign Het
Pold2 G T 11: 5,825,140 (GRCm39) Q86K probably benign Het
Ptprt A G 2: 161,400,863 (GRCm39) L1057P probably damaging Het
Rev3l A G 10: 39,708,635 (GRCm39) H2284R probably damaging Het
Scart1 T A 7: 139,804,376 (GRCm39) C484S possibly damaging Het
Skint6 A C 4: 113,095,300 (GRCm39) S120A probably benign Het
Slc1a7 G A 4: 107,864,770 (GRCm39) V270M probably damaging Het
Spata2 A G 2: 167,327,142 (GRCm39) M85T probably benign Het
Taf1b G T 12: 24,559,558 (GRCm39) probably benign Het
Tert A G 13: 73,790,178 (GRCm39) N844S probably benign Het
Thrap3 G A 4: 126,073,882 (GRCm39) S288L possibly damaging Het
Ubap2l A G 3: 89,955,180 (GRCm39) probably benign Het
Ubtf T C 11: 102,202,276 (GRCm39) E197G possibly damaging Het
Usp20 G T 2: 30,897,825 (GRCm39) G216W probably damaging Het
Yy1 T A 12: 108,759,457 (GRCm39) V40E unknown Het
Zfp335 G A 2: 164,734,505 (GRCm39) H1254Y possibly damaging Het
Other mutations in Dqx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Dqx1 APN 6 83,043,408 (GRCm39) unclassified probably benign
IGL02158:Dqx1 APN 6 83,035,891 (GRCm39) splice site probably benign
IGL02288:Dqx1 APN 6 83,037,309 (GRCm39) missense probably damaging 0.98
IGL02801:Dqx1 APN 6 83,037,476 (GRCm39) splice site probably null
IGL02929:Dqx1 APN 6 83,037,465 (GRCm39) unclassified probably benign
R0396:Dqx1 UTSW 6 83,035,986 (GRCm39) missense probably benign 0.00
R0448:Dqx1 UTSW 6 83,037,326 (GRCm39) missense probably damaging 1.00
R0471:Dqx1 UTSW 6 83,036,407 (GRCm39) splice site probably benign
R1022:Dqx1 UTSW 6 83,038,070 (GRCm39) missense probably damaging 1.00
R1024:Dqx1 UTSW 6 83,038,070 (GRCm39) missense probably damaging 1.00
R1480:Dqx1 UTSW 6 83,036,433 (GRCm39) missense possibly damaging 0.61
R1804:Dqx1 UTSW 6 83,037,303 (GRCm39) missense probably damaging 1.00
R1848:Dqx1 UTSW 6 83,043,088 (GRCm39) missense probably damaging 1.00
R1982:Dqx1 UTSW 6 83,035,558 (GRCm39) missense probably damaging 1.00
R2064:Dqx1 UTSW 6 83,035,524 (GRCm39) unclassified probably benign
R2350:Dqx1 UTSW 6 83,036,068 (GRCm39) nonsense probably null
R3110:Dqx1 UTSW 6 83,035,953 (GRCm39) missense probably damaging 0.99
R3112:Dqx1 UTSW 6 83,035,953 (GRCm39) missense probably damaging 0.99
R3119:Dqx1 UTSW 6 83,043,216 (GRCm39) nonsense probably null
R4179:Dqx1 UTSW 6 83,036,460 (GRCm39) missense probably benign 0.03
R4180:Dqx1 UTSW 6 83,036,460 (GRCm39) missense probably benign 0.03
R4873:Dqx1 UTSW 6 83,037,993 (GRCm39) missense probably benign 0.25
R4875:Dqx1 UTSW 6 83,037,993 (GRCm39) missense probably benign 0.25
R4882:Dqx1 UTSW 6 83,043,069 (GRCm39) critical splice acceptor site probably null
R5015:Dqx1 UTSW 6 83,043,092 (GRCm39) missense probably benign 0.00
R5128:Dqx1 UTSW 6 83,037,548 (GRCm39) missense probably damaging 0.96
R5346:Dqx1 UTSW 6 83,036,700 (GRCm39) missense possibly damaging 0.87
R5480:Dqx1 UTSW 6 83,041,784 (GRCm39) missense probably damaging 0.98
R6939:Dqx1 UTSW 6 83,036,446 (GRCm39) missense probably damaging 0.99
R6979:Dqx1 UTSW 6 83,037,992 (GRCm39) missense probably damaging 1.00
R7059:Dqx1 UTSW 6 83,041,790 (GRCm39) missense probably benign 0.18
R7084:Dqx1 UTSW 6 83,043,436 (GRCm39) missense probably damaging 1.00
R7354:Dqx1 UTSW 6 83,037,957 (GRCm39) nonsense probably null
R7389:Dqx1 UTSW 6 83,041,775 (GRCm39) missense probably null 0.99
R7497:Dqx1 UTSW 6 83,036,028 (GRCm39) missense probably damaging 1.00
R7632:Dqx1 UTSW 6 83,036,680 (GRCm39) missense probably benign
R7762:Dqx1 UTSW 6 83,038,013 (GRCm39) missense probably damaging 1.00
R8002:Dqx1 UTSW 6 83,035,558 (GRCm39) missense probably damaging 1.00
R8036:Dqx1 UTSW 6 83,036,788 (GRCm39) missense probably damaging 1.00
R8147:Dqx1 UTSW 6 83,037,222 (GRCm39) missense probably benign 0.41
R8776:Dqx1 UTSW 6 83,035,619 (GRCm39) missense probably damaging 0.99
R8776-TAIL:Dqx1 UTSW 6 83,035,619 (GRCm39) missense probably damaging 0.99
R9090:Dqx1 UTSW 6 83,036,024 (GRCm39) missense probably benign 0.13
R9139:Dqx1 UTSW 6 83,036,759 (GRCm39) missense possibly damaging 0.76
R9271:Dqx1 UTSW 6 83,036,024 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- ATCTAAGCCCTGTGTCCTCACCAG -3'
(R):5'- AGTCAGCAATGTGGGCGAGATTC -3'

Sequencing Primer
(F):5'- AGCACCAGAAGCACTGATG -3'
(R):5'- ATGGGCAGACACTTGGTTCC -3'
Posted On 2014-01-05