Incidental Mutation 'R6939:Dqx1'
ID 540423
Institutional Source Beutler Lab
Gene Symbol Dqx1
Ensembl Gene ENSMUSG00000009145
Gene Name DEAQ RNA-dependent ATPase
Synonyms 2310066E11Rik
MMRRC Submission 045053-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6939 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83034825-83044299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83036446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 150 (Q150L)
Ref Sequence ENSEMBL: ENSMUSP00000144697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077502] [ENSMUST00000089645] [ENSMUST00000092618] [ENSMUST00000113963] [ENSMUST00000122955] [ENSMUST00000204803]
AlphaFold Q924H9
Predicted Effect probably damaging
Transcript: ENSMUST00000077502
AA Change: Q150L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145
AA Change: Q150L

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: ENSMUST00000089645
SMART Domains Protein: ENSMUSP00000087073
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin 170 341 1.1e-14 PFAM
Pfam:Trypsin_2 182 320 1.2e-34 PFAM
PDZ 371 445 2.86e-10 SMART
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 probably benign
Transcript: ENSMUST00000113963
SMART Domains Protein: ENSMUSP00000109596
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin 170 342 6.8e-15 PFAM
Pfam:Trypsin_2 182 320 7.1e-24 PFAM
PDZ 350 413 4.89e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122955
SMART Domains Protein: ENSMUSP00000138153
Gene: ENSMUSG00000068329

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
transmembrane domain 106 125 N/A INTRINSIC
low complexity region 128 143 N/A INTRINSIC
Pfam:Trypsin 170 321 2.1e-10 PFAM
Pfam:Trypsin_2 182 317 9.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203915
Predicted Effect probably benign
Transcript: ENSMUST00000204343
Predicted Effect probably benign
Transcript: ENSMUST00000204719
Predicted Effect probably damaging
Transcript: ENSMUST00000204803
AA Change: Q150L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000144697
Gene: ENSMUSG00000009145
AA Change: Q150L

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DEXDc 30 236 2.1e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 99% (66/67)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg G A 15: 60,792,244 (GRCm39) P128L probably damaging Het
Acsm3 T C 7: 119,377,678 (GRCm39) V401A probably damaging Het
Arhgef11 C A 3: 87,594,227 (GRCm39) N93K probably damaging Het
C1ra G A 6: 124,489,760 (GRCm39) probably null Het
Camk2a A G 18: 61,091,226 (GRCm39) E236G probably damaging Het
Cav2 C A 6: 17,281,410 (GRCm39) D17E possibly damaging Het
Ccdc149 T C 5: 52,533,607 (GRCm39) S520G probably benign Het
Chd4 C A 6: 125,083,501 (GRCm39) H674Q probably damaging Het
Clrn2 A T 5: 45,611,096 (GRCm39) probably benign Het
Cntnap1 A C 11: 101,077,337 (GRCm39) I1000L probably damaging Het
Cyp2c67 T C 19: 39,631,778 (GRCm39) T140A possibly damaging Het
D7Ertd443e T C 7: 133,966,208 (GRCm39) probably null Het
Dcdc2c G T 12: 28,591,496 (GRCm39) Q131K probably benign Het
Dmpk T A 7: 18,822,149 (GRCm39) V369E probably damaging Het
Dnah11 A T 12: 118,070,297 (GRCm39) W1503R probably damaging Het
Dnai7 A G 6: 145,120,945 (GRCm39) F625L possibly damaging Het
Dok2 T C 14: 71,013,045 (GRCm39) V71A probably benign Het
Extl3 A G 14: 65,304,189 (GRCm39) I740T possibly damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat2 C T 11: 55,143,300 (GRCm39) W4183* probably null Het
Fkrp C T 7: 16,545,751 (GRCm39) R37Q probably benign Het
Frem3 A G 8: 81,341,774 (GRCm39) K1356E probably benign Het
Fus A T 7: 127,571,741 (GRCm39) probably benign Het
Gabarapl2 C A 8: 112,669,201 (GRCm39) S53* probably null Het
Gjd3 A C 11: 102,691,733 (GRCm39) M90R probably damaging Het
Gm30083 C T 14: 33,725,557 (GRCm39) probably null Het
Gm7356 T A 17: 14,221,387 (GRCm39) Y214F probably benign Het
Hexd A T 11: 121,113,164 (GRCm39) D533V probably benign Het
Ift172 G A 5: 31,414,930 (GRCm39) A1364V probably damaging Het
Ighmbp2 A T 19: 3,326,907 (GRCm39) F186Y probably damaging Het
Inpp5e C A 2: 26,297,774 (GRCm39) probably null Het
Iqcb1 A G 16: 36,660,274 (GRCm39) T146A possibly damaging Het
Kcnmb2 A G 3: 32,252,465 (GRCm39) Y222C probably damaging Het
Kdm6b A G 11: 69,297,588 (GRCm39) W284R probably damaging Het
Khdc4 T A 3: 88,593,824 (GRCm39) M71K probably damaging Het
Ksr2 T A 5: 117,903,626 (GRCm39) *952R probably null Het
Ldlrap1 C A 4: 134,495,285 (GRCm39) probably benign Het
Mpdu1 G A 11: 69,548,881 (GRCm39) probably benign Het
Mrgprh A T 17: 13,095,822 (GRCm39) T21S probably benign Het
Muc16 T A 9: 18,549,833 (GRCm39) T5487S probably benign Het
Mydgf A G 17: 56,490,737 (GRCm39) probably null Het
Napa T C 7: 15,849,182 (GRCm39) C241R possibly damaging Het
Or10ab4 C A 7: 107,654,312 (GRCm39) A41E possibly damaging Het
Or10n7-ps1 T C 9: 39,598,187 (GRCm39) T18A possibly damaging Het
Or5k17 A T 16: 58,746,648 (GRCm39) Y95* probably null Het
Pla2g4f A T 2: 120,137,782 (GRCm39) L326Q probably damaging Het
Pramel16 T C 4: 143,675,366 (GRCm39) T487A probably benign Het
Psme4 T A 11: 30,787,291 (GRCm39) Y1029N probably damaging Het
Ptprj T C 2: 90,289,858 (GRCm39) T707A possibly damaging Het
Raet1e T A 10: 22,050,256 (GRCm39) M13K possibly damaging Het
Rftn2 T C 1: 55,233,508 (GRCm39) probably null Het
Rmi1 A G 13: 58,557,169 (GRCm39) I473V probably benign Het
Rps6ka4 A G 19: 6,815,437 (GRCm39) F186L probably damaging Het
Ryr1 T A 7: 28,751,751 (GRCm39) M3672L possibly damaging Het
Smarca5 A T 8: 81,431,949 (GRCm39) C890S possibly damaging Het
Spata31d1e T A 13: 59,889,872 (GRCm39) K231N possibly damaging Het
Tdrd12 C T 7: 35,185,024 (GRCm39) probably null Het
Tecta T C 9: 42,259,293 (GRCm39) N1530S probably damaging Het
Tenm4 G A 7: 96,202,703 (GRCm39) R106H probably benign Het
Tmem94 A G 11: 115,676,656 (GRCm39) S54G possibly damaging Het
Tnk2 T C 16: 32,482,696 (GRCm39) V41A probably damaging Het
Trpm1 A G 7: 63,918,045 (GRCm39) T462A probably benign Het
Tsg101 T C 7: 46,556,847 (GRCm39) T61A probably benign Het
Usp42 T C 5: 143,713,724 (GRCm39) N17D probably damaging Het
Zfp607a T A 7: 27,578,473 (GRCm39) C514* probably null Het
Zfp866 G T 8: 70,218,871 (GRCm39) Q250K probably 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
R1023: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
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'- GTGCATAAACCAAGTGCTCTC -3'
(R):5'- GAATTGCCCCAGAAAGCCTG -3'

Sequencing Primer
(F):5'- TCTCAACAGAGATGTGGGATCAC -3'
(R):5'- GAAAGCCTGGAATTTTGGTTCAAGC -3'
Posted On 2018-11-06