Incidental Mutation 'IGL03109:Noxred1'
ID419110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Noxred1
Ensembl Gene ENSMUSG00000072919
Gene NameNADP+ dependent oxidoreductase domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #IGL03109
Quality Score
Status
Chromosome12
Chromosomal Location87221040-87238732 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87233438 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 40 (H40L)
Ref Sequence ENSEMBL: ENSMUSP00000152486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021423] [ENSMUST00000221768] [ENSMUST00000222480]
Predicted Effect probably damaging
Transcript: ENSMUST00000021423
AA Change: H40L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021423
Gene: ENSMUSG00000072919
AA Change: H40L

DomainStartEndE-ValueType
Pfam:F420_oxidored 80 173 1.1e-9 PFAM
low complexity region 261 269 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000221768
AA Change: H40L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222480
AA Change: H40L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,166,460 S96R probably benign Het
Abca6 T A 11: 110,180,347 H1506L probably damaging Het
Adgrg1 T A 8: 95,007,676 probably benign Het
Ahi1 A G 10: 20,970,942 T424A probably benign Het
Birc6 T A 17: 74,579,334 S552R possibly damaging Het
Bptf T C 11: 107,061,701 T2172A possibly damaging Het
Commd9 T C 2: 101,897,170 V103A probably benign Het
Ctnnal1 T A 4: 56,839,045 D216V probably damaging Het
Dcbld2 A G 16: 58,456,402 T519A probably benign Het
Dennd6b T C 15: 89,184,985 probably benign Het
Dnah10 A G 5: 124,764,886 T1369A probably benign Het
Ect2 T C 3: 27,144,972 T222A possibly damaging Het
Eef2k G A 7: 120,891,726 G523E probably damaging Het
Ephb2 T G 4: 136,771,544 T75P probably damaging Het
Exo1 A T 1: 175,899,560 N479I probably damaging Het
Fign A G 2: 63,980,662 L88P possibly damaging Het
Golgb1 T A 16: 36,915,611 V1740E possibly damaging Het
Icos A G 1: 60,997,697 probably benign Het
Il6ra C A 3: 89,876,858 G369* probably null Het
Itpr1 A G 6: 108,417,981 D83G probably damaging Het
Kdm2a A G 19: 4,329,107 I560T probably benign Het
Lrp1 C T 10: 127,566,645 R2219H probably benign Het
Mical3 A T 6: 121,009,124 C119S probably damaging Het
Mipol1 G A 12: 57,364,224 R267H probably benign Het
Myrip A T 9: 120,453,724 probably null Het
Nelfb G A 2: 25,201,061 L542F possibly damaging Het
Nlrp4b T C 7: 10,714,946 C359R probably damaging Het
Nphp1 A T 2: 127,768,169 probably benign Het
Olfr761 C T 17: 37,952,487 C179Y probably damaging Het
Pank3 T A 11: 35,777,674 F163L probably benign Het
Pde10a T C 17: 8,929,214 probably null Het
Pigc G A 1: 161,970,776 R109Q possibly damaging Het
Rfc3 A G 5: 151,643,094 S297P probably benign Het
Serinc1 A T 10: 57,523,069 M246K probably benign Het
Slc5a8 C T 10: 88,906,416 probably benign Het
Tecrl A G 5: 83,309,309 probably benign Het
Tex14 A T 11: 87,543,365 E119V probably damaging Het
Tmem94 A G 11: 115,792,398 K669R probably damaging Het
Tnfrsf4 C A 4: 156,015,411 H130Q probably damaging Het
Trav18 G A 14: 53,831,551 A18T probably benign Het
Other mutations in Noxred1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01943:Noxred1 APN 12 87223181 missense probably benign 0.05
IGL01950:Noxred1 APN 12 87221416 missense probably damaging 1.00
IGL02381:Noxred1 APN 12 87225002 missense probably damaging 0.98
PIT4402001:Noxred1 UTSW 12 87227081 missense probably benign 0.00
PIT4504001:Noxred1 UTSW 12 87224879 missense possibly damaging 0.89
R0242:Noxred1 UTSW 12 87226979 missense probably benign 0.02
R0242:Noxred1 UTSW 12 87226979 missense probably benign 0.02
R0514:Noxred1 UTSW 12 87227064 missense probably benign 0.01
R0992:Noxred1 UTSW 12 87224226 missense probably benign 0.15
R1626:Noxred1 UTSW 12 87221255 makesense probably null
R2370:Noxred1 UTSW 12 87227046 missense probably benign 0.00
R3692:Noxred1 UTSW 12 87233466 missense probably benign 0.26
R4084:Noxred1 UTSW 12 87233484 missense possibly damaging 0.67
R5868:Noxred1 UTSW 12 87224202 missense possibly damaging 0.54
R6856:Noxred1 UTSW 12 87227036 missense probably benign 0.00
R6977:Noxred1 UTSW 12 87221317 missense probably null 0.00
R7388:Noxred1 UTSW 12 87227025 missense probably damaging 0.99
R7535:Noxred1 UTSW 12 87233432 missense probably benign 0.00
Posted On2016-08-02