Incidental Mutation 'IGL00948:Nmral1'
ID29169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nmral1
Ensembl Gene ENSMUSG00000063445
Gene NameNmrA-like family domain containing 1
Synonyms1110025F24Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00948
Quality Score
Status
Chromosome16
Chromosomal Location4710059-4719356 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 4716406 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Glutamic Acid at position 57 (G57E)
Ref Sequence ENSEMBL: ENSMUSP00000112754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074970] [ENSMUST00000079130] [ENSMUST00000115851] [ENSMUST00000120056]
Predicted Effect probably damaging
Transcript: ENSMUST00000074970
AA Change: G57E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074500
Gene: ENSMUSG00000063445
AA Change: G57E

DomainStartEndE-ValueType
Pfam:adh_short 5 80 2.2e-7 PFAM
Pfam:KR 6 79 1.5e-7 PFAM
Pfam:TrkA_N 7 92 4.1e-7 PFAM
Pfam:NAD_binding_10 7 191 5.9e-17 PFAM
Pfam:NmrA 7 240 1e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079130
AA Change: G57E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078132
Gene: ENSMUSG00000063445
AA Change: G57E

DomainStartEndE-ValueType
Pfam:NmrA 7 250 3.9e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115851
AA Change: G57E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111517
Gene: ENSMUSG00000063445
AA Change: G57E

DomainStartEndE-ValueType
Pfam:adh_short 5 80 3.9e-7 PFAM
Pfam:KR 6 79 2.4e-7 PFAM
Pfam:TrkA_N 7 93 9.2e-8 PFAM
Pfam:NAD_binding_10 7 188 8.1e-17 PFAM
Pfam:NmrA 7 240 1.5e-58 PFAM
low complexity region 242 253 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120056
AA Change: G57E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112754
Gene: ENSMUSG00000063445
AA Change: G57E

DomainStartEndE-ValueType
Pfam:adh_short 5 80 1.1e-6 PFAM
Pfam:KR 6 79 7.4e-7 PFAM
Pfam:TrkA_N 7 112 5.9e-7 PFAM
Pfam:NAD_binding_10 7 188 4.2e-16 PFAM
Pfam:NmrA 7 240 6.7e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125140
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccl2 A T 11: 82,035,732 Q24L possibly damaging Het
Cd33 G A 7: 43,529,558 probably benign Het
Cmya5 T C 13: 93,091,036 I2515V probably benign Het
Cntnap5b A G 1: 100,141,357 T101A probably benign Het
Cyp4a12a T A 4: 115,301,962 M143K probably damaging Het
Ephb4 C A 5: 137,366,659 S663R probably damaging Het
Gm4847 T C 1: 166,630,338 D482G probably benign Het
Gskip C A 12: 105,698,844 N47K probably damaging Het
Kmt2c T C 5: 25,377,161 Y473C probably benign Het
Lrrc7 T A 3: 158,161,557 N849I probably damaging Het
Magel2 T A 7: 62,379,322 V658E unknown Het
Olfr801 A T 10: 129,669,887 L211I probably damaging Het
Olfr921 C T 9: 38,775,812 Q186* probably null Het
Padi3 C A 4: 140,788,943 R542L possibly damaging Het
Plrg1 T C 3: 83,068,119 V260A probably damaging Het
Prex2 A G 1: 11,170,614 H982R probably damaging Het
Rbm26 T A 14: 105,150,343 T448S probably damaging Het
Ryr1 C T 7: 29,020,195 M4262I possibly damaging Het
Slc41a3 A T 6: 90,645,714 D441V probably damaging Het
Slc7a2 A G 8: 40,912,524 E448G probably benign Het
Smtnl2 C A 11: 72,411,241 probably null Het
Tox3 G A 8: 90,270,434 P66L probably damaging Het
Vmn1r19 T C 6: 57,405,262 F267L probably benign Het
Vmn2r12 A G 5: 109,097,675 S64P possibly damaging Het
Zfp764 T C 7: 127,405,204 S252G possibly damaging Het
Other mutations in Nmral1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Nmral1 APN 16 4716376 missense probably benign 0.02
IGL02065:Nmral1 APN 16 4716482 missense probably benign 0.43
R2061:Nmral1 UTSW 16 4716329 missense probably damaging 1.00
R2070:Nmral1 UTSW 16 4716347 missense probably damaging 1.00
R2071:Nmral1 UTSW 16 4716347 missense probably damaging 1.00
R3150:Nmral1 UTSW 16 4716469 missense probably damaging 1.00
R4369:Nmral1 UTSW 16 4714530 missense probably damaging 1.00
R4689:Nmral1 UTSW 16 4714558 missense probably damaging 1.00
R4690:Nmral1 UTSW 16 4716341 missense probably damaging 1.00
R4786:Nmral1 UTSW 16 4716424 missense probably damaging 1.00
R4948:Nmral1 UTSW 16 4716410 nonsense probably null
R5090:Nmral1 UTSW 16 4714531 missense probably damaging 1.00
R5503:Nmral1 UTSW 16 4715629 missense probably benign
R5989:Nmral1 UTSW 16 4719038 start gained probably benign
R6525:Nmral1 UTSW 16 4714432 nonsense probably null
R7313:Nmral1 UTSW 16 4713796 missense probably benign 0.00
R8202:Nmral1 UTSW 16 4714584 missense probably damaging 1.00
R8257:Nmral1 UTSW 16 4716403 missense probably damaging 1.00
R8280:Nmral1 UTSW 16 4713795 missense probably damaging 0.98
Posted On2013-04-17