Incidental Mutation 'R1540:Nod1'
ID 171654
Institutional Source Beutler Lab
Gene Symbol Nod1
Ensembl Gene ENSMUSG00000038058
Gene Name nucleotide-binding oligomerization domain containing 1
Synonyms Card4, F830007N14Rik, Nlrc1
MMRRC Submission 039579-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1540 (G1)
Quality Score 154
Status Validated
Chromosome 6
Chromosomal Location 54900934-54949597 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54920960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 453 (T453A)
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: T453A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000055747
Gene: ENSMUSG00000038058
AA Change: T453A

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: T453A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000130487
Gene: ENSMUSG00000038058
AA Change: T453A

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 0.0590 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 96% (72/75)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,574,384 (GRCm39) C767R probably benign Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Ap3d1 A T 10: 80,551,775 (GRCm39) I644N probably benign Het
Asb16 A G 11: 102,163,402 (GRCm39) I131V probably benign Het
Atp6v0a2 C A 5: 124,784,638 (GRCm39) A307D probably damaging Het
C1qtnf1 C T 11: 118,338,749 (GRCm39) H140Y probably benign Het
Cacna1g T A 11: 94,347,865 (GRCm39) D741V probably damaging Het
Caprin2 T A 6: 148,777,969 (GRCm39) T211S probably benign Het
Carmil1 T C 13: 24,283,037 (GRCm39) E89G possibly damaging Het
Casz1 T A 4: 149,027,357 (GRCm39) probably benign Het
Catsperb G A 12: 101,378,589 (GRCm39) R30Q probably benign Het
Ccdc102a A T 8: 95,634,341 (GRCm39) probably null Het
Ccdc110 G T 8: 46,395,362 (GRCm39) E418* probably null Het
Ccdc90b C T 7: 92,231,024 (GRCm39) A210V probably benign Het
Cdadc1 G T 14: 59,823,532 (GRCm39) A320E probably damaging Het
Cdadc1 T A 14: 59,823,541 (GRCm39) Q317L probably damaging Het
Cep170 C A 1: 176,567,498 (GRCm39) W1396L probably damaging Het
Col4a6 T C X: 140,010,854 (GRCm39) T129A probably damaging Het
Ctcfl C T 2: 172,954,141 (GRCm39) D319N probably benign Het
Dclk1 T C 3: 55,385,244 (GRCm39) S45P probably damaging Het
Efcab3 T C 11: 104,999,726 (GRCm39) I5581T probably benign Het
Evi2 T C 11: 79,406,412 (GRCm39) I388V probably benign Het
Fbxl5 A T 5: 43,915,978 (GRCm39) V435E possibly damaging Het
Fig4 A T 10: 41,064,582 (GRCm39) M887K possibly damaging Het
Glt8d1 G A 14: 30,733,549 (GRCm39) V345I probably benign Het
Gm5709 T C 3: 59,526,073 (GRCm39) noncoding transcript Het
Hsp90b1 A G 10: 86,529,906 (GRCm39) F264L probably damaging Het
Id3 A G 4: 135,871,250 (GRCm39) S21G possibly damaging Het
Ighe T A 12: 113,235,066 (GRCm39) N365Y unknown Het
Il17rd T G 14: 26,821,915 (GRCm39) M403R probably damaging Het
Ints10 A G 8: 69,249,365 (GRCm39) probably benign Het
Kcnc4 T A 3: 107,352,743 (GRCm39) probably null Het
Kctd19 A G 8: 106,114,511 (GRCm39) S517P probably damaging Het
Lama5 A G 2: 179,821,944 (GRCm39) F2964L probably benign Het
Lin54 A T 5: 100,628,109 (GRCm39) N31K probably damaging Het
Lrrc8e A G 8: 4,284,990 (GRCm39) K405R probably benign Het
Lyst T A 13: 13,809,686 (GRCm39) M452K possibly damaging Het
Mroh7 A G 4: 106,560,273 (GRCm39) L677P probably benign Het
Mrps27 T A 13: 99,541,558 (GRCm39) F221I probably benign Het
Nhlrc1 C T 13: 47,167,820 (GRCm39) V146M probably damaging Het
Nlrp9b T A 7: 19,782,772 (GRCm39) C895* probably null Het
Nodal T C 10: 61,258,764 (GRCm39) V67A probably damaging Het
Ntsr1 T C 2: 180,184,440 (GRCm39) L381P probably damaging Het
Or13c25 T C 4: 52,910,996 (GRCm39) D266G probably benign Het
Or2b2b T A 13: 21,858,700 (GRCm39) Q138L probably benign Het
Or9e1 T A 11: 58,732,477 (GRCm39) M179K probably benign Het
P2ry14 T A 3: 59,022,686 (GRCm39) K267M probably benign Het
Pcdh1 T C 18: 38,322,779 (GRCm39) N1018S probably benign Het
Pkn3 G A 2: 29,974,703 (GRCm39) V406I probably damaging Het
Prkcb C T 7: 122,226,916 (GRCm39) T634I probably damaging Het
Psme2b T A 11: 48,836,209 (GRCm39) probably null Het
Ptgfrn A G 3: 100,967,970 (GRCm39) I541T probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapb T C 2: 158,307,746 (GRCm39) V684A probably benign Het
Rbbp5 C T 1: 132,422,020 (GRCm39) R307* probably null Het
Rcor1 T A 12: 111,070,037 (GRCm39) probably benign Het
Rlbp1 C T 7: 79,029,808 (GRCm39) A142T probably damaging Het
Rps6ka2 A G 17: 7,560,305 (GRCm39) E581G probably null Het
Sars1 A T 3: 108,340,461 (GRCm39) V155E probably benign Het
Sec31a G C 5: 100,523,178 (GRCm39) P569A probably damaging Het
Selenof A T 3: 144,300,685 (GRCm39) K111* probably null Het
Serpinb7 C T 1: 107,355,998 (GRCm39) A7V possibly damaging Het
Smc4 T A 3: 68,924,105 (GRCm39) Y298N probably damaging Het
Snrpa1 T A 7: 65,720,409 (GRCm39) I204N probably damaging Het
Spry4 T G 18: 38,734,740 (GRCm39) probably benign Het
Tcea2 A G 2: 181,328,751 (GRCm39) N261S possibly damaging Het
Tmem59l A G 8: 70,937,804 (GRCm39) F192S probably benign Het
Tnr T A 1: 159,677,675 (GRCm39) I20N probably damaging Het
Ttll5 C T 12: 85,938,982 (GRCm39) Q427* probably null Het
Vps45 C T 3: 95,955,658 (GRCm39) A111T probably damaging Het
Zfp395 T C 14: 65,630,523 (GRCm39) S358P probably benign Het
Zfp438 A G 18: 5,210,740 (GRCm39) V766A 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
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
Predicted Primers PCR Primer
(F):5'- AAATTCGTAAGACTGGCCCTGCTC -3'
(R):5'- GCAAATTGCTCACTGCTCGCAC -3'

Sequencing Primer
(F):5'- TGGCCAAACACAAAGAGGCT -3'
(R):5'- CGCAAAAAGGTGCTGCTC -3'
Posted On 2014-04-13