Incidental Mutation 'R5989:Nmral1'
ID 481901
Institutional Source Beutler Lab
Gene Symbol Nmral1
Ensembl Gene ENSMUSG00000063445
Gene Name NmrA-like family domain containing 1
Synonyms 1110025F24Rik
MMRRC Submission 044169-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5989 (G1)
Quality Score 125.008
Status Not validated
Chromosome 16
Chromosomal Location 4529181-4537220 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 4536902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074970] [ENSMUST00000079130] [ENSMUST00000115851] [ENSMUST00000120056]
AlphaFold Q8K2T1
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: 100,035,492 (GRCm39) I109F probably damaging Het
Csmd3 G A 15: 47,454,160 (GRCm39) P3562L possibly damaging Het
Cyp2c40 T C 19: 39,796,024 (GRCm39) D118G probably benign Het
Dmrt1 T A 19: 25,523,245 (GRCm39) S199T possibly damaging Het
Drgx A G 14: 32,330,145 (GRCm39) N116S probably benign Het
Ebf1 G T 11: 44,886,998 (GRCm39) C565F probably damaging Het
Ggnbp1 A G 17: 27,248,721 (GRCm39) R97G probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm42417 A G 1: 36,571,273 (GRCm39) F183L probably damaging Het
Ipcef1 A T 10: 6,929,532 (GRCm39) Y69* probably null Het
Lcp1 A T 14: 75,436,827 (GRCm39) M58L probably benign Het
Mtif2 A G 11: 29,480,098 (GRCm39) T55A probably damaging Het
Nefm A G 14: 68,361,778 (GRCm39) V162A probably benign Het
Or5h23 A T 16: 58,906,697 (GRCm39) W50R probably benign Het
Panx2 T C 15: 88,944,455 (GRCm39) L60P probably damaging Het
Prkag3 T C 1: 74,780,433 (GRCm39) N411D probably benign Het
Ramacl G A 13: 67,056,050 (GRCm39) M14I probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rttn G A 18: 88,991,750 (GRCm39) D110N probably damaging Het
Sfta2 G T 17: 35,960,672 (GRCm39) probably benign Het
Slc17a3 A G 13: 24,026,411 (GRCm39) probably benign Het
Spem1 G A 11: 69,711,951 (GRCm39) P238S possibly damaging Het
Tmem200c G T 17: 69,144,431 (GRCm39) probably benign Het
Trpm2 A G 10: 77,795,734 (GRCm39) F131S probably damaging Het
Vps51 A G 19: 6,126,402 (GRCm39) S117P probably damaging Het
Zbtb21 G A 16: 97,752,699 (GRCm39) P556L probably damaging Het
Other mutations in Nmral1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00650:Nmral1 APN 16 4,534,240 (GRCm39) missense probably benign 0.02
IGL00948:Nmral1 APN 16 4,534,270 (GRCm39) missense probably damaging 1.00
IGL02065:Nmral1 APN 16 4,534,346 (GRCm39) missense probably benign 0.43
R2061:Nmral1 UTSW 16 4,534,193 (GRCm39) missense probably damaging 1.00
R2070:Nmral1 UTSW 16 4,534,211 (GRCm39) missense probably damaging 1.00
R2071:Nmral1 UTSW 16 4,534,211 (GRCm39) missense probably damaging 1.00
R3150:Nmral1 UTSW 16 4,534,333 (GRCm39) missense probably damaging 1.00
R4369:Nmral1 UTSW 16 4,532,394 (GRCm39) missense probably damaging 1.00
R4689:Nmral1 UTSW 16 4,532,422 (GRCm39) missense probably damaging 1.00
R4690:Nmral1 UTSW 16 4,534,205 (GRCm39) missense probably damaging 1.00
R4786:Nmral1 UTSW 16 4,534,288 (GRCm39) missense probably damaging 1.00
R4948:Nmral1 UTSW 16 4,534,274 (GRCm39) nonsense probably null
R5090:Nmral1 UTSW 16 4,532,395 (GRCm39) missense probably damaging 1.00
R5503:Nmral1 UTSW 16 4,533,493 (GRCm39) missense probably benign
R6525:Nmral1 UTSW 16 4,532,296 (GRCm39) nonsense probably null
R7313:Nmral1 UTSW 16 4,531,660 (GRCm39) missense probably benign 0.00
R8202:Nmral1 UTSW 16 4,532,448 (GRCm39) missense probably damaging 1.00
R8257:Nmral1 UTSW 16 4,534,267 (GRCm39) missense probably damaging 1.00
R8280:Nmral1 UTSW 16 4,531,659 (GRCm39) missense probably damaging 0.98
R9228:Nmral1 UTSW 16 4,531,631 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-06-26