Mutagenetix > Incidental Mutation

Incidental Mutation 'R6331:Nod1'

510913

Institutional Source

Beutler Lab

Gene Symbol

Nod1

Ensembl Gene

ENSMUSG00000038058

Gene Name

nucleotide-binding oligomerization domain containing 1

Synonyms

Card4, F830007N14Rik, Nlrc1

MMRRC Submission

044485-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54900934-54949597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54901968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 939 (E939G)

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: E939G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055747
Gene: ENSMUSG00000038058
AA Change: E939G

Domain	Start	End	E-Value	Type
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: E939G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130487
Gene: ENSMUSG00000038058
AA Change: E939G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0675

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,529,199 (GRCm39)	D981G	probably damaging	Het
Abcc1	C	A	16: 14,282,920 (GRCm39)	A1132D	probably damaging	Het
Adamts12	A	G	15: 11,241,519 (GRCm39)	T364A	probably damaging	Het
Ahnak	A	T	19: 8,983,989 (GRCm39)	M1758L	probably benign	Het
Ak9	T	C	10: 41,258,825 (GRCm39)	V774A	probably damaging	Het
Ash1l	A	G	3: 88,915,172 (GRCm39)	E1934G	probably benign	Het
Atp2b2	C	T	6: 113,774,092 (GRCm39)	A341T	probably benign	Het
Bach2	G	T	4: 32,238,816 (GRCm39)		probably benign	Het
Bltp3a	T	C	17: 28,112,175 (GRCm39)	I1150T	probably benign	Het
Brd10	C	T	19: 29,695,147 (GRCm39)	V1449I	probably benign	Het
Ccdc102a	T	C	8: 95,638,144 (GRCm39)	T241A	probably benign	Het
Chd5	G	T	4: 152,466,865 (GRCm39)	R1627S	probably benign	Het
Clint1	T	C	11: 45,785,908 (GRCm39)	S322P	probably benign	Het
Dapk1	T	A	13: 60,877,256 (GRCm39)	C498*	probably null	Het
Diaph3	T	G	14: 87,103,976 (GRCm39)	S803R	probably damaging	Het
Dmp1	T	C	5: 104,354,991 (GRCm39)	L10P	probably damaging	Het
Gcc2	T	C	10: 58,107,287 (GRCm39)	V741A	probably benign	Het
Gldn	A	G	9: 54,194,162 (GRCm39)	M119V	probably benign	Het
Gucy1b1	A	G	3: 81,941,718 (GRCm39)	S574P	possibly damaging	Het
Hapln4	T	A	8: 70,537,073 (GRCm39)		probably benign	Het
Hars1	A	G	18: 36,904,385 (GRCm39)	V209A	probably benign	Het
Htt	T	A	5: 35,053,231 (GRCm39)	F2521L	possibly damaging	Het
Kif14	A	G	1: 136,443,724 (GRCm39)	D1299G	probably null	Het
Krt25	T	A	11: 99,208,253 (GRCm39)	E325V	probably damaging	Het
Lcmt1	T	C	7: 122,977,405 (GRCm39)		probably benign	Het
Lrp1b	A	T	2: 40,693,221 (GRCm39)	N3266K	probably damaging	Het
Mctp1	T	A	13: 77,168,982 (GRCm39)		probably null	Het
Mtarc2	A	G	1: 184,551,525 (GRCm39)	S304P	probably damaging	Het
Myo5b	G	A	18: 74,750,064 (GRCm39)	A176T	probably damaging	Het
Myom3	A	G	4: 135,503,688 (GRCm39)	N379S	possibly damaging	Het
Nbea	A	T	3: 55,908,037 (GRCm39)	D1358E	possibly damaging	Het
Obox1	A	G	7: 15,289,294 (GRCm39)	R70G	probably benign	Het
Or13c25	A	G	4: 52,911,399 (GRCm39)	Y132H	probably damaging	Het
Or13p3	A	G	4: 118,567,144 (GRCm39)	E180G	probably benign	Het
Or4a2	C	T	2: 89,248,695 (GRCm39)	G21S	probably benign	Het
Or5m12	T	C	2: 85,734,560 (GRCm39)	I279M	probably benign	Het
Otof	T	C	5: 30,529,279 (GRCm39)	D1745G	possibly damaging	Het
Pklr	A	G	3: 89,044,662 (GRCm39)	I47V	probably damaging	Het
Pms2	T	A	5: 143,851,451 (GRCm39)	S123T	possibly damaging	Het
Pnpla2	T	C	7: 141,039,198 (GRCm39)	S337P	probably damaging	Het
Ptgfrn	A	C	3: 100,952,936 (GRCm39)	V766G	possibly damaging	Het
Ptpn11	T	A	5: 121,282,716 (GRCm39)	H419L	probably damaging	Het
Rims3	T	A	4: 120,740,350 (GRCm39)	V99E	probably damaging	Het
Rmc1	G	A	18: 12,313,571 (GRCm39)	R228H	probably damaging	Het
Samd9l	A	G	6: 3,376,361 (GRCm39)	V300A	probably damaging	Het
Sdad1	T	C	5: 92,451,789 (GRCm39)	D144G	probably damaging	Het
Siglecg	T	C	7: 43,058,178 (GRCm39)	Y22H	possibly damaging	Het
Slc39a1	A	G	3: 90,159,588 (GRCm39)	K305R	possibly damaging	Het
Slc5a4a	A	G	10: 76,014,034 (GRCm39)	R414G	probably damaging	Het
Smg1	T	C	7: 117,753,500 (GRCm39)		probably benign	Het
Tbc1d9b	C	T	11: 50,022,324 (GRCm39)	A20V	possibly damaging	Het
Tgfb3	G	T	12: 86,110,638 (GRCm39)	D237E	probably benign	Het
Tle6	A	G	10: 81,431,073 (GRCm39)	S234P	probably benign	Het
Tnrc6b	A	G	15: 80,763,815 (GRCm39)	N439S	probably benign	Het
Trim33	T	C	3: 103,248,925 (GRCm39)	S783P	probably benign	Het
Ttn	A	T	2: 76,632,698 (GRCm39)	Y12373N	probably damaging	Het
Tube1	G	A	10: 39,010,097 (GRCm39)	V7I	probably benign	Het
Tufm	T	C	7: 126,088,410 (GRCm39)	V265A	probably benign	Het
Usp32	T	C	11: 84,877,402 (GRCm39)	H1550R	possibly damaging	Het
Usp33	A	T	3: 152,081,887 (GRCm39)	M546L	probably damaging	Het
Uspl1	C	A	5: 149,151,097 (GRCm39)	Q752K	probably benign	Het
Vmn1r20	A	G	6: 57,408,655 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,659,521 (GRCm39)	F245S	probably damaging	Het
Vmn2r3	A	G	3: 64,186,182 (GRCm39)	S168P	probably damaging	Het
Wdr24	T	G	17: 26,044,650 (GRCm39)	D168E	possibly damaging	Het
Zfp646	C	T	7: 127,482,853 (GRCm39)	P1677S	probably damaging	Het

Other mutations in Nod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TACCAGTCCAAGCATGAGCAG -3'
(R):5'- AGCAAGGACAGCTGGTATTAATATC -3'

Sequencing Primer
(F):5'- GGACATCGGTGTGCACTG -3'
(R):5'- GGACAGCTGGTATTAATATCAAAGC -3'

Posted On

2018-04-02