Incidental Mutation 'R5989:Nmral1'
ID481901
Institutional Source Beutler Lab
Gene Symbol Nmral1
Ensembl Gene ENSMUSG00000063445
Gene NameNmrA-like family domain containing 1
Synonyms1110025F24Rik
MMRRC Submission 044169-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5989 (G1)
Quality Score125.008
Status Not validated
Chromosome16
Chromosomal Location4710059-4719356 bp(-) (GRCm38)
Type of Mutationstart gained
DNA Base Change (assembly) G to A at 4719038 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074970] [ENSMUST00000079130] [ENSMUST00000115851] [ENSMUST00000120056]
Predicted Effect probably benign
Transcript: ENSMUST00000074970
SMART Domains Protein: ENSMUSP00000074500
Gene: ENSMUSG00000063445

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 benign
Transcript: ENSMUST00000079130
SMART Domains Protein: ENSMUSP00000078132
Gene: ENSMUSG00000063445

DomainStartEndE-ValueType
Pfam:NmrA 7 250 3.9e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115851
SMART Domains Protein: ENSMUSP00000111517
Gene: ENSMUSG00000063445

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 benign
Transcript: ENSMUST00000120056
SMART Domains Protein: ENSMUSP00000112754
Gene: ENSMUSG00000063445

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
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.6%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cartpt T A 13: 99,898,984 I109F probably damaging Het
Csmd3 G A 15: 47,590,764 P3562L possibly damaging Het
Cyp2c40 T C 19: 39,807,580 D118G probably benign Het
Dmrt1 T A 19: 25,545,881 S199T possibly damaging Het
Ebf1 G T 11: 44,996,171 C565F probably damaging Het
Ggnbp1 A G 17: 27,029,747 R97G probably benign Het
Gm10271 A T 10: 116,972,592 F6L probably damaging Het
Gm10767 G A 13: 66,907,986 M14I probably damaging Het
Gm42417 A G 1: 36,532,192 F183L probably damaging Het
Ipcef1 A T 10: 6,979,532 Y69* probably null Het
Lcp1 A T 14: 75,199,387 M58L probably benign Het
Mtif2 A G 11: 29,530,098 T55A probably damaging Het
Nefm A G 14: 68,124,329 V162A probably benign Het
Olfr191 A T 16: 59,086,334 W50R probably benign Het
Panx2 T C 15: 89,060,252 L60P probably damaging Het
Prkag3 T C 1: 74,741,274 N411D probably benign Het
Prrxl1 A G 14: 32,608,188 N116S probably benign Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rttn G A 18: 88,973,626 D110N probably damaging Het
Sfta2 G T 17: 35,649,780 probably benign Het
Slc17a3 A G 13: 23,842,428 probably benign Het
Spem1 G A 11: 69,821,125 P238S possibly damaging Het
Tmem200c G T 17: 68,837,436 probably benign Het
Trpm2 A G 10: 77,959,900 F131S probably damaging Het
Vps51 A G 19: 6,076,372 S117P probably damaging Het
Zbtb21 G A 16: 97,951,499 P556L probably damaging Het
Other mutations in Nmral1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Nmral1 APN 16 4716376 missense probably benign 0.02
IGL00948:Nmral1 APN 16 4716406 missense probably damaging 1.00
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
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
Predicted Primers
Posted On2017-06-26