Incidental Mutation 'R4179:Dqx1'
ID 319625
Institutional Source Beutler Lab
Gene Symbol Dqx1
Ensembl Gene ENSMUSG00000009145
Gene Name DEAQ RNA-dependent ATPase
Synonyms 2310066E11Rik
MMRRC Submission 041015-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4179 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 83034825-83044299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83036460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 155 (T155A)
Ref Sequence ENSEMBL: ENSMUSP00000144697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077502] [ENSMUST00000089645] [ENSMUST00000092618] [ENSMUST00000113963] [ENSMUST00000122955] [ENSMUST00000204803]
AlphaFold Q924H9
Predicted Effect probably benign
Transcript: ENSMUST00000077502
AA Change: T155A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076708
Gene: ENSMUSG00000009145
AA Change: T155A

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 noncoding transcript
Transcript: ENSMUST00000154829
Predicted Effect probably benign
Transcript: ENSMUST00000203915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204209
Predicted Effect probably benign
Transcript: ENSMUST00000204719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203180
Predicted Effect probably benign
Transcript: ENSMUST00000204343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203331
Predicted Effect probably benign
Transcript: ENSMUST00000204803
AA Change: T155A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000144697
Gene: ENSMUSG00000009145
AA Change: T155A

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
DEXDc 30 236 2.1e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204761
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205042
Meta Mutation Damage Score 0.0707 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T C 8: 44,104,128 (GRCm39) M506V probably benign Het
Ano1 A T 7: 144,204,242 (GRCm39) M290K probably damaging Het
Arrdc2 A T 8: 71,289,821 (GRCm39) L34Q probably damaging Het
Cdadc1 G T 14: 59,829,935 (GRCm39) T77N probably benign Het
Cmtr2 C G 8: 110,947,669 (GRCm39) probably null Het
Cnot2 A T 10: 116,334,048 (GRCm39) V374E possibly damaging Het
Crnn T C 3: 93,054,120 (GRCm39) M1T probably null Het
Ctsb A G 14: 63,370,901 (GRCm39) N38D probably benign Het
Dock10 A C 1: 80,488,134 (GRCm39) S2010A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Eci1 T C 17: 24,655,251 (GRCm39) W119R probably damaging Het
Foxo1 C A 3: 52,252,840 (GRCm39) D334E probably benign Het
Gck T C 11: 5,860,295 (GRCm39) T116A probably benign Het
Gcn1 T C 5: 115,726,109 (GRCm39) V588A probably benign Het
Gm7168 A G 17: 14,169,265 (GRCm39) I211V probably benign Het
Idh3g A T X: 72,825,610 (GRCm39) probably null Het
Jag1 A G 2: 136,943,578 (GRCm39) F206S probably damaging Het
Loxl3 G A 6: 83,014,565 (GRCm39) V158I probably benign Het
Ly6g A G 15: 75,027,567 (GRCm39) probably null Het
Myo1b A G 1: 51,817,685 (GRCm39) F532L probably damaging Het
Naip1 T A 13: 100,562,684 (GRCm39) N827I probably damaging Het
Nlrp9c G A 7: 26,084,086 (GRCm39) H498Y possibly damaging Het
Or10d1b A G 9: 39,613,387 (GRCm39) I226T probably benign Het
Pak2 C G 16: 31,871,005 (GRCm39) G59A probably benign Het
Pcdha2 T A 18: 37,074,529 (GRCm39) L720Q probably damaging Het
Pcdhb9 T A 18: 37,534,168 (GRCm39) M54K probably benign Het
Pde2a A G 7: 101,130,590 (GRCm39) *71W probably null Het
Pkd2l1 T C 19: 44,180,620 (GRCm39) N32D probably benign Het
Pkhd1l1 A C 15: 44,387,045 (GRCm39) Y1306S probably benign Het
Plec T C 15: 76,064,415 (GRCm39) K1953R possibly damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Prkd1 C A 12: 50,413,231 (GRCm39) G647C probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Qser1 A G 2: 104,606,729 (GRCm39) I1510T probably benign Het
Ranbp3l T C 15: 9,057,279 (GRCm39) I314T possibly damaging Het
Rgs9 C A 11: 109,172,274 (GRCm39) probably null Het
Riok1 T C 13: 38,232,931 (GRCm39) F216L probably damaging Het
Rrm1 T A 7: 102,106,405 (GRCm39) I308N probably damaging Het
Serpina1f A T 12: 103,658,179 (GRCm39) M242K probably benign Het
Smox G A 2: 131,366,770 (GRCm39) M576I possibly damaging Het
Spaca7 A T 8: 12,636,435 (GRCm39) N87I probably damaging Het
Spink5 A T 18: 44,120,934 (GRCm39) Q296L probably benign Het
Sspo T C 6: 48,475,329 (GRCm39) probably null Het
Sult2b1 T A 7: 45,384,735 (GRCm39) I114F probably damaging Het
Tex12 T C 9: 50,470,587 (GRCm39) probably null Het
Tonsl A G 15: 76,508,675 (GRCm39) L26P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsen54 T C 11: 115,711,678 (GRCm39) V365A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp47 T C 7: 111,687,091 (GRCm39) L683P probably damaging Het
Wdr18 T C 10: 79,800,875 (GRCm39) L146P probably damaging Het
Zfp709 A G 8: 72,643,750 (GRCm39) Y392C probably damaging Het
Zranb3 A T 1: 127,888,601 (GRCm39) I828N 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
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
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'- GTGCATAAACCAAGTGCTCTC -3'
(R):5'- GAATTGCCCCAGAAAGCCTG -3'

Sequencing Primer
(F):5'- GTGGGATCACACTTAATGGTCCAC -3'
(R):5'- GAAAGCCTGGAATTTTGGTTCAAGC -3'
Posted On 2015-06-10