Incidental Mutation 'IGL00937:Nod1'
ID 27640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nod1
Ensembl Gene ENSMUSG00000038058
Gene Name nucleotide-binding oligomerization domain containing 1
Synonyms Card4, F830007N14Rik, Nlrc1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00937
Quality Score
Status
Chromosome 6
Chromosomal Location 54900934-54949597 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54914349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 815 (V815I)
Ref Sequence ENSEMBL: ENSMUSP00000130487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060655] [ENSMUST00000168172] [ENSMUST00000203076]
AlphaFold Q8BHB0
Predicted Effect probably benign
Transcript: ENSMUST00000060655
AA Change: V815I

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000055747
Gene: ENSMUSG00000038058
AA Change: V815I

DomainStartEndE-ValueType
low complexity region 1 11 N/A INTRINSIC
Pfam:CARD 20 105 4.7e-21 PFAM
low complexity region 174 185 N/A INTRINSIC
Pfam:NACHT 196 368 1.3e-41 PFAM
low complexity region 515 529 N/A INTRINSIC
low complexity region 555 565 N/A INTRINSIC
low complexity region 708 717 N/A INTRINSIC
LRR 727 754 1.25e0 SMART
LRR 755 782 1.22e1 SMART
LRR 783 810 1.96e2 SMART
LRR 811 838 1.08e-1 SMART
LRR 839 866 3.95e-4 SMART
LRR 867 894 1.51e0 SMART
LRR 895 922 7.15e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168172
AA Change: V815I

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000130487
Gene: ENSMUSG00000038058
AA Change: V815I

DomainStartEndE-ValueType
low complexity region 1 11 N/A INTRINSIC
Pfam:CARD 20 105 7.6e-20 PFAM
low complexity region 174 185 N/A INTRINSIC
Pfam:NACHT 196 368 6.2e-41 PFAM
low complexity region 515 529 N/A INTRINSIC
low complexity region 555 565 N/A INTRINSIC
low complexity region 708 717 N/A INTRINSIC
LRR 727 754 1.25e0 SMART
LRR 755 782 1.22e1 SMART
LRR 783 810 1.96e2 SMART
LRR 811 838 1.08e-1 SMART
LRR 839 866 3.95e-4 SMART
LRR 867 894 1.51e0 SMART
LRR 895 922 7.15e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203076
AA Change: V161I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000145123
Gene: ENSMUSG00000038058
AA Change: V161I

DomainStartEndE-ValueType
low complexity region 82 91 N/A INTRINSIC
LRR 101 128 5.3e-3 SMART
LRR 157 184 4.8e-4 SMART
LRR 185 212 1.7e-6 SMART
LRR 213 240 6.4e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205242
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 a member of the NOD (nucleotide-binding oligomerization domain) family. This member is a cytosolic protein. It contains an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. This protein is an intracellular pattern-recognition receptor (PRR) that initiates inflammation in response to a subset of bacteria through the detection of bacterial diaminopimelic acid. Multiple alternatively spliced transcript variants differring in the 5' UTR have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutant mice were viable, fertile, and appeared normal in a specific-pathogen free environment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cc2d2a A T 5: 43,845,464 (GRCm39) probably null Het
Cd34 A G 1: 194,642,422 (GRCm39) E381G probably damaging Het
Chka A G 19: 3,942,189 (GRCm39) E381G probably benign Het
Dennd1b T A 1: 139,097,977 (GRCm39) C673S probably benign Het
E130308A19Rik G A 4: 59,690,846 (GRCm39) A227T probably benign Het
F13b T A 1: 139,445,098 (GRCm39) probably benign Het
Hipk3 T C 2: 104,263,517 (GRCm39) N933D possibly damaging Het
Mmp27 T C 9: 7,578,900 (GRCm39) probably benign Het
Or2a5 T A 6: 42,873,568 (GRCm39) F61Y probably damaging Het
Or2ag15 T A 7: 106,340,364 (GRCm39) Y259F probably damaging Het
Or3a1d C T 11: 74,238,255 (GRCm39) V52I probably benign Het
Or51ab3 C A 7: 103,201,064 (GRCm39) A24E probably damaging Het
Or51h1 T A 7: 102,308,555 (GRCm39) S176T probably damaging Het
Or52k2 T A 7: 102,253,564 (GRCm39) M1K probably null Het
Pms1 T A 1: 53,314,410 (GRCm39) E45V possibly damaging Het
Prkcsh T C 9: 21,917,861 (GRCm39) S126P possibly damaging Het
Pros1 A T 16: 62,730,408 (GRCm39) L299F probably damaging Het
Scrn1 A G 6: 54,497,718 (GRCm39) I291T probably benign Het
Slc15a2 A T 16: 36,572,242 (GRCm39) Y676* probably null Het
Tenm2 A C 11: 35,915,450 (GRCm39) V2028G probably damaging Het
Trpa1 T C 1: 14,950,501 (GRCm39) probably benign Het
Other mutations in Nod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Nod1 APN 6 54,921,931 (GRCm39) missense probably damaging 1.00
IGL00945:Nod1 APN 6 54,921,571 (GRCm39) splice site probably null
IGL01410:Nod1 APN 6 54,921,341 (GRCm39) missense probably damaging 1.00
IGL02094:Nod1 APN 6 54,916,375 (GRCm39) splice site probably null
IGL02217:Nod1 APN 6 54,920,404 (GRCm39) missense possibly damaging 0.63
IGL02573:Nod1 APN 6 54,920,930 (GRCm39) missense probably benign 0.02
IGL02944:Nod1 APN 6 54,901,932 (GRCm39) missense possibly damaging 0.68
R0092:Nod1 UTSW 6 54,921,526 (GRCm39) missense probably damaging 1.00
R0108:Nod1 UTSW 6 54,920,734 (GRCm39) missense probably benign 0.27
R0148:Nod1 UTSW 6 54,915,202 (GRCm39) missense probably damaging 1.00
R0771:Nod1 UTSW 6 54,921,254 (GRCm39) missense probably damaging 0.96
R1493:Nod1 UTSW 6 54,921,041 (GRCm39) missense probably damaging 1.00
R1540:Nod1 UTSW 6 54,920,960 (GRCm39) missense probably benign 0.09
R1660:Nod1 UTSW 6 54,921,218 (GRCm39) splice site probably null
R1710:Nod1 UTSW 6 54,921,044 (GRCm39) missense probably damaging 0.98
R1911:Nod1 UTSW 6 54,921,425 (GRCm39) missense probably damaging 0.96
R2008:Nod1 UTSW 6 54,916,310 (GRCm39) missense probably damaging 1.00
R3409:Nod1 UTSW 6 54,921,902 (GRCm39) missense probably benign 0.01
R3410:Nod1 UTSW 6 54,921,902 (GRCm39) missense probably benign 0.01
R3927:Nod1 UTSW 6 54,921,902 (GRCm39) missense probably benign 0.01
R4499:Nod1 UTSW 6 54,920,981 (GRCm39) missense probably damaging 1.00
R4608:Nod1 UTSW 6 54,920,741 (GRCm39) missense probably damaging 1.00
R5552:Nod1 UTSW 6 54,921,616 (GRCm39) missense probably damaging 1.00
R5667:Nod1 UTSW 6 54,910,561 (GRCm39) missense probably benign 0.06
R5859:Nod1 UTSW 6 54,907,162 (GRCm39) missense probably benign 0.08
R5868:Nod1 UTSW 6 54,916,312 (GRCm39) missense probably damaging 1.00
R5995:Nod1 UTSW 6 54,921,539 (GRCm39) missense probably damaging 0.99
R6329:Nod1 UTSW 6 54,921,689 (GRCm39) missense probably benign 0.00
R6331:Nod1 UTSW 6 54,901,968 (GRCm39) missense probably damaging 1.00
R6642:Nod1 UTSW 6 54,925,014 (GRCm39) missense probably damaging 1.00
R6798:Nod1 UTSW 6 54,921,596 (GRCm39) missense probably damaging 0.97
R6889:Nod1 UTSW 6 54,921,094 (GRCm39) missense probably benign 0.27
R7582:Nod1 UTSW 6 54,921,292 (GRCm39) missense probably damaging 1.00
R8123:Nod1 UTSW 6 54,914,391 (GRCm39) missense probably damaging 1.00
R8317:Nod1 UTSW 6 54,920,425 (GRCm39) missense probably damaging 1.00
R8338:Nod1 UTSW 6 54,920,956 (GRCm39) missense probably damaging 0.97
R8524:Nod1 UTSW 6 54,925,060 (GRCm39) missense probably damaging 1.00
R8896:Nod1 UTSW 6 54,921,277 (GRCm39) missense probably benign 0.03
R8961:Nod1 UTSW 6 54,926,461 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17