Incidental Mutation 'IGL02944:Nod1'
ID 364664
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 # IGL02944
Quality Score
Status
Chromosome 6
Chromosomal Location 54900934-54949597 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54901932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 951 (I951N)
Ref Sequence ENSEMBL: ENSMUSP00000130487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060655] [ENSMUST00000168172] [ENSMUST00000203076]
AlphaFold Q8BHB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000060655
AA Change: I951N

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000055747
Gene: ENSMUSG00000038058
AA Change: I951N

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 possibly damaging
Transcript: ENSMUST00000168172
AA Change: I951N

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130487
Gene: ENSMUSG00000038058
AA Change: I951N

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: ENSMUST00000203916
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,258,405 (GRCm39) Q343R probably benign Het
Antxr1 T A 6: 87,165,141 (GRCm39) N432I possibly damaging Het
Arhgap15 T C 2: 44,032,362 (GRCm39) probably null Het
Atp6v1h T A 1: 5,163,578 (GRCm39) probably benign Het
Cav2 T C 6: 17,281,456 (GRCm39) Y33H probably damaging Het
Ccdc175 T A 12: 72,164,667 (GRCm39) D585V probably benign Het
Coro7 T C 16: 4,453,276 (GRCm39) D271G probably benign Het
Cylc1 T A X: 110,167,373 (GRCm39) D551E possibly damaging Het
Dnah1 A T 14: 31,022,828 (GRCm39) I1103N possibly damaging Het
Gmds T A 13: 32,522,435 (GRCm39) Y11F probably benign Het
Igkv13-54-1 C T 6: 69,594,374 (GRCm39) noncoding transcript Het
Irf8 A G 8: 121,481,864 (GRCm39) T318A probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Mageb11 A G X: 89,935,868 (GRCm39) K41E probably benign Het
Mbd1 G A 18: 74,410,481 (GRCm39) G428E probably damaging Het
Myom2 A T 8: 15,154,065 (GRCm39) probably null Het
Nav2 C T 7: 49,070,004 (GRCm39) R287W probably damaging Het
Nfs1 C T 2: 155,969,688 (GRCm39) D320N probably damaging Het
Nlrp9a A T 7: 26,258,076 (GRCm39) T565S probably benign Het
Or1n1b T G 2: 36,780,800 (GRCm39) E20A possibly damaging Het
Or2ag1b A G 7: 106,288,476 (GRCm39) L154P probably damaging Het
Or52e8b A G 7: 104,674,130 (GRCm39) L19P probably damaging Het
Or8d2 A T 9: 38,760,048 (GRCm39) I213F possibly damaging Het
Pkhd1l1 T C 15: 44,364,927 (GRCm39) Y689H probably damaging Het
Ppp2r5c A G 12: 110,534,234 (GRCm39) I366V probably benign Het
Ppp3cb T C 14: 20,578,303 (GRCm39) Y149C probably damaging Het
Prdm1 T C 10: 44,317,807 (GRCm39) S354G probably benign Het
Ralgapa1 T A 12: 55,804,736 (GRCm39) Q520L probably benign Het
Slc25a54 A T 3: 108,987,931 (GRCm39) Y24F probably benign Het
Slfn3 T A 11: 83,103,837 (GRCm39) V236E probably damaging Het
Syt6 A G 3: 103,482,865 (GRCm39) probably benign Het
Trim30a G T 7: 104,084,984 (GRCm39) N75K probably benign Het
Vmn1r175 T C 7: 23,508,591 (GRCm39) E12G probably damaging Het
Xylt1 A T 7: 117,233,984 (GRCm39) T504S 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
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 2015-12-18