Incidental Mutation 'R4499:Nod1'
ID 331750
Institutional Source Beutler Lab
Gene Symbol Nod1
Ensembl Gene ENSMUSG00000038058
Gene Name nucleotide-binding oligomerization domain containing 1
Synonyms Card4, F830007N14Rik, Nlrc1
MMRRC Submission 041752-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4499 (G1)
Quality Score 162
Status Validated
Chromosome 6
Chromosomal Location 54900934-54949597 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54920981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 446 (N446Y)
Ref Sequence ENSEMBL: ENSMUSP00000130487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060655] [ENSMUST00000168172] [ENSMUST00000203076]
AlphaFold Q8BHB0
Predicted Effect probably damaging
Transcript: ENSMUST00000060655
AA Change: N446Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055747
Gene: ENSMUSG00000038058
AA Change: N446Y

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 damaging
Transcript: ENSMUST00000168172
AA Change: N446Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130487
Gene: ENSMUSG00000038058
AA Change: N446Y

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
SMART Domains Protein: ENSMUSP00000145123
Gene: ENSMUSG00000038058

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
Meta Mutation Damage Score 0.0973 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (47/51)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,464,646 (GRCm39) W948R possibly damaging Het
Ache A C 5: 137,290,194 (GRCm39) M508L probably damaging Het
Adgrb2 A T 4: 129,886,454 (GRCm39) E198V probably damaging Het
Adgrl4 A G 3: 151,216,422 (GRCm39) N535S possibly damaging Het
Agbl3 T C 6: 34,834,533 (GRCm39) S906P probably benign Het
Akna T C 4: 63,313,278 (GRCm39) T282A probably benign Het
Arfgef2 G A 2: 166,727,734 (GRCm39) V1561M probably damaging Het
Arfgef3 T C 10: 18,484,091 (GRCm39) D1388G possibly damaging Het
Asnsd1 A G 1: 53,387,129 (GRCm39) V166A probably benign Het
Bank1 T C 3: 135,990,004 (GRCm39) I29V probably benign Het
Bpifb5 A T 2: 154,082,678 (GRCm39) I484F possibly damaging Het
Camta2 T C 11: 70,565,512 (GRCm39) E788G probably damaging Het
Ccdc18 T G 5: 108,376,826 (GRCm39) S1422R possibly damaging Het
Cdc42bpg C T 19: 6,370,585 (GRCm39) P1226L possibly damaging Het
Cep126 T C 9: 8,101,589 (GRCm39) N315S possibly damaging Het
Dcaf4 T A 12: 83,586,134 (GRCm39) L367Q probably damaging Het
Dcc A T 18: 71,680,388 (GRCm39) V616D probably benign Het
Dennd4a G A 9: 64,817,405 (GRCm39) D1680N possibly damaging Het
Dgkq C G 5: 108,797,527 (GRCm39) E788D possibly damaging Het
Dpep2 T C 8: 106,712,114 (GRCm39) E282G probably benign Het
Gm8221 T A 15: 77,510,245 (GRCm39) noncoding transcript Het
Ice1 T C 13: 70,757,146 (GRCm39) S280G possibly damaging Het
Lrrc2 A T 9: 110,791,713 (GRCm39) Q155L probably benign Het
Mesd G A 7: 83,547,185 (GRCm39) R216Q probably benign Het
Msh6 T A 17: 88,287,697 (GRCm39) N112K probably damaging Het
Myo15b A G 11: 115,781,778 (GRCm39) E307G probably benign Het
Nrap G A 19: 56,339,913 (GRCm39) T787I probably damaging Het
P2ry12 A G 3: 59,125,078 (GRCm39) I199T probably damaging Het
Prr11 T G 11: 86,989,533 (GRCm39) K279N possibly damaging Het
Psg25 C T 7: 18,258,816 (GRCm39) E287K possibly damaging Het
Rusc1 T C 3: 88,999,615 (GRCm39) S56G probably benign Het
Slc16a7 T C 10: 125,064,056 (GRCm39) N427S probably damaging Het
Slc47a1 T A 11: 61,250,355 (GRCm39) I341L probably benign Het
Slc9a8 T A 2: 167,266,113 (GRCm39) L30Q probably benign Het
Ssh2 T A 11: 77,283,893 (GRCm39) L49* probably null Het
Stard9 T A 2: 120,530,722 (GRCm39) D2326E probably benign Het
Thbs1 T C 2: 117,950,431 (GRCm39) I688T possibly damaging Het
Ttn T A 2: 76,746,822 (GRCm39) E4742D probably benign Het
Vps37b T C 5: 124,145,689 (GRCm39) I117V probably damaging Het
Xirp2 A T 2: 67,343,782 (GRCm39) M2008L probably benign Het
Zfp1005 T G 2: 150,111,362 (GRCm39) V684G possibly damaging Het
Zfp53 A G 17: 21,729,497 (GRCm39) E510G probably damaging Het
Zswim8 T A 14: 20,764,365 (GRCm39) S578R probably benign Het
Other mutations in Nod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Nod1 APN 6 54,921,931 (GRCm39) missense probably damaging 1.00
IGL00937:Nod1 APN 6 54,914,349 (GRCm39) missense probably benign 0.08
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
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
Predicted Primers PCR Primer
(F):5'- ATCTGCTACCAGGAAGAAGGC -3'
(R):5'- AAATTGCTCACTGCTCGCAC -3'

Sequencing Primer
(F):5'- TAAGACTGGCCCTGCTCAG -3'
(R):5'- TCCTGCGCAAAAAGGTGCTG -3'
Posted On 2015-07-21