Mutagenetix > Incidental Mutation

Incidental Mutation 'R0092:Nod1'

20274

Institutional Source

Beutler Lab

Gene Symbol

Nod1

Ensembl Gene

ENSMUSG00000038058

Gene Name

nucleotide-binding oligomerization domain containing 1

Synonyms

Card4, F830007N14Rik, Nlrc1

MMRRC Submission

038379-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0092 (G1)

Quality Score

203

Status

Validated (trace)

Chromosome

Chromosomal Location

54923949-54972612 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 54944541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 264 (D264A)

Ref Sequence

ENSEMBL: ENSMUSP00000130487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060655] [ENSMUST00000168172] [ENSMUST00000203076] [ENSMUST00000203837]

AlphaFold

Q8BHB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000060655
AA Change: D264A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000055747
Gene: ENSMUSG00000038058
AA Change: D264A

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: D264A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130487
Gene: ENSMUSG00000038058
AA Change: D264A

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

probably benign
Transcript: ENSMUST00000203837

SMART Domains

Protein: ENSMUSP00000145005
Gene: ENSMUSG00000038058

Domain	Start	End	E-Value	Type
low complexity region	1	11	N/A	INTRINSIC
PDB:2NZ7\|B	13	52	4e-14	PDB
Blast:CARD	17	52	1e-14	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205242

Meta Mutation Damage Score

0.5570

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.6%

Validation Efficiency

99% (112/113)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,028,159 (GRCm38)	D3790G	probably benign	Het
Abcg2	T	A	6: 58,685,777 (GRCm38)	S535T	probably benign	Het
Acad11	A	T	9: 104,090,341 (GRCm38)		probably benign	Het
Acadm	A	T	3: 153,941,875 (GRCm38)		probably benign	Het
Acot12	T	A	13: 91,741,565 (GRCm38)	M12K	probably damaging	Het
Actr2	A	T	11: 20,094,308 (GRCm38)	N99K	probably benign	Het
Adam2	G	A	14: 66,053,887 (GRCm38)	A314V	probably damaging	Het
Aes	G	A	10: 81,561,220 (GRCm38)	G10D	possibly damaging	Het
Agl	C	T	3: 116,793,804 (GRCm38)	R34Q	probably damaging	Het
Agrn	C	T	4: 156,178,953 (GRCm38)	R338H	probably damaging	Het
AI661453	A	G	17: 47,467,515 (GRCm38)		probably benign	Het
Alpk3	A	G	7: 81,092,553 (GRCm38)	D706G	probably benign	Het
Apbb1	T	C	7: 105,559,154 (GRCm38)	E648G	probably damaging	Het
Astn2	C	A	4: 66,403,982 (GRCm38)	A127S	unknown	Het
Asxl2	T	C	12: 3,496,313 (GRCm38)	S366P	probably benign	Het
Bdh1	A	T	16: 31,447,562 (GRCm38)	K92*	probably null	Het
Cacna1g	C	T	11: 94,457,264 (GRCm38)	S666N	probably damaging	Het
Ces2b	A	G	8: 104,836,512 (GRCm38)	T361A	possibly damaging	Het
Col6a4	T	A	9: 106,013,314 (GRCm38)	E1927V	probably benign	Het
Ctnnb1	T	G	9: 120,952,863 (GRCm38)	I314S	possibly damaging	Het
Cyp2c66	T	C	19: 39,183,780 (GRCm38)		probably benign	Het
Dennd4c	T	A	4: 86,781,607 (GRCm38)	F232I	probably damaging	Het
Dennd5a	T	C	7: 109,899,806 (GRCm38)	N950S	possibly damaging	Het
Dhx30	T	C	9: 110,085,010 (GRCm38)	N14S	possibly damaging	Het
Dip2b	T	A	15: 100,202,265 (GRCm38)	V1004D	probably damaging	Het
Dnah1	A	C	14: 31,271,609 (GRCm38)	S2872A	probably benign	Het
Dnajc10	T	C	2: 80,325,682 (GRCm38)	V233A	probably damaging	Het
E230025N22Rik	A	G	18: 36,689,224 (GRCm38)	L162P	probably damaging	Het
Elmod3	T	C	6: 72,566,809 (GRCm38)	D333G	probably benign	Het
Epb41l3	T	A	17: 69,286,750 (GRCm38)	M846K	probably damaging	Het
Frem2	A	G	3: 53,589,796 (GRCm38)	Y1766H	probably benign	Het
Fxr2	T	C	11: 69,642,146 (GRCm38)		probably benign	Het
Gm14085	G	T	2: 122,517,597 (GRCm38)		probably benign	Het
Gm9833	G	A	3: 10,088,573 (GRCm38)	C134Y	possibly damaging	Het
Gmpr2	A	G	14: 55,677,945 (GRCm38)	R258G	probably benign	Het
Helb	T	C	10: 120,089,808 (GRCm38)	Y888C	probably damaging	Het
Hephl1	TTCCAGATGTCC	TTCC	9: 15,090,603 (GRCm38)		probably null	Het
Hipk2	T	C	6: 38,743,229 (GRCm38)	D482G	probably damaging	Het
Itgb4	G	T	11: 115,979,124 (GRCm38)	R44L	probably damaging	Het
Itih1	T	C	14: 30,940,863 (GRCm38)		probably benign	Het
Kit	T	A	5: 75,647,754 (GRCm38)	S719R	possibly damaging	Het
Krt13	G	A	11: 100,121,432 (GRCm38)	Q22*	probably null	Het
L3mbtl4	A	C	17: 68,425,703 (GRCm38)	R59S	probably benign	Het
Lpp	A	G	16: 24,761,602 (GRCm38)	S23G	probably benign	Het
Magi3	G	A	3: 104,050,964 (GRCm38)	Q602*	probably null	Het
Man2a1	A	G	17: 64,659,084 (GRCm38)		probably benign	Het
Muc5ac	A	G	7: 141,818,630 (GRCm38)	E2667G	possibly damaging	Het
Myo15b	C	G	11: 115,862,986 (GRCm38)	S842C	possibly damaging	Het
Naf1	T	A	8: 66,889,108 (GRCm38)	S462T	probably benign	Het
Necab3	T	C	2: 154,558,739 (GRCm38)	D34G	possibly damaging	Het
Nisch	C	A	14: 31,191,453 (GRCm38)		probably benign	Het
Nlrc5	T	C	8: 94,489,594 (GRCm38)		probably benign	Het
Nmt1	T	C	11: 103,046,493 (GRCm38)	F119L	probably damaging	Het
Nol8	C	T	13: 49,662,447 (GRCm38)	A677V	possibly damaging	Het
Nt5e	T	A	9: 88,370,285 (GRCm38)	F567I	probably benign	Het
Obscn	A	T	11: 59,051,247 (GRCm38)	M4434K	possibly damaging	Het
Olfr119	T	G	17: 37,700,805 (GRCm38)	L45R	probably damaging	Het
Olfr50	A	G	2: 36,793,496 (GRCm38)	T87A	probably benign	Het
Olfr512	T	C	7: 108,713,824 (GRCm38)	V145A	probably benign	Het
Olfr632	T	C	7: 103,937,727 (GRCm38)	S116P	probably damaging	Het
Olfr796	A	G	10: 129,608,221 (GRCm38)	S87P	probably damaging	Het
Opa1	A	T	16: 29,625,594 (GRCm38)	D866V	probably damaging	Het
Otop1	T	A	5: 38,299,830 (GRCm38)	V311E	probably damaging	Het
Pcsk2	A	G	2: 143,801,024 (GRCm38)	D407G	probably damaging	Het
Pdcd1	A	G	1: 94,052,424 (GRCm38)	W23R	possibly damaging	Het
Pigp	A	G	16: 94,365,462 (GRCm38)	V129A	probably damaging	Het
Pik3r5	A	G	11: 68,492,803 (GRCm38)	R483G	probably benign	Het
Pink1	A	G	4: 138,319,998 (GRCm38)	V225A	probably benign	Het
Plcl1	C	G	1: 55,696,765 (GRCm38)	Q422E	probably damaging	Het
Plec	T	C	15: 76,183,743 (GRCm38)	E1222G	probably benign	Het
Polr1a	T	C	6: 71,967,455 (GRCm38)		probably benign	Het
Prokr2	C	T	2: 132,373,597 (GRCm38)	V154M	probably damaging	Het
Rasgrp4	A	G	7: 29,145,132 (GRCm38)	R280G	possibly damaging	Het
Rmnd5b	T	C	11: 51,629,592 (GRCm38)	E8G	possibly damaging	Het
Sbf2	T	A	7: 110,320,806 (GRCm38)		probably benign	Het
Sec23b	A	G	2: 144,566,910 (GRCm38)	M172V	probably benign	Het
Setx	T	C	2: 29,146,293 (GRCm38)	V930A	probably benign	Het
Sft2d2	G	A	1: 165,179,260 (GRCm38)	A159V	possibly damaging	Het
Sh3gl1	G	T	17: 56,018,088 (GRCm38)	R250S	probably benign	Het
Skor1	C	A	9: 63,145,995 (GRCm38)	D231Y	probably damaging	Het
Slc24a1	T	G	9: 64,948,752 (GRCm38)	E291A	unknown	Het
Smc1b	A	T	15: 85,067,724 (GRCm38)		probably benign	Het
Tbccd1	A	T	16: 22,826,094 (GRCm38)	N177K	possibly damaging	Het
Tdp1	T	A	12: 99,954,989 (GRCm38)	Y595N	probably damaging	Het
Tmem108	T	C	9: 103,489,305 (GRCm38)	K496E	possibly damaging	Het
Tmprss7	T	C	16: 45,667,596 (GRCm38)	D490G	probably damaging	Het
Tnrc6b	A	T	15: 80,918,528 (GRCm38)	N1511Y	probably damaging	Het
Top2b	G	A	14: 16,409,263 (GRCm38)	R802Q	probably damaging	Het
Trip10	A	T	17: 57,250,798 (GRCm38)	K27N	possibly damaging	Het
Txlnb	A	G	10: 17,842,755 (GRCm38)	N445D	possibly damaging	Het
Txnrd1	T	A	10: 82,879,802 (GRCm38)	I159N	probably damaging	Het
Ulk1	C	A	5: 110,796,327 (GRCm38)	A164S	probably null	Het
Vmn2r83	T	C	10: 79,491,964 (GRCm38)	V802A	probably damaging	Het
Zbtb4	A	G	11: 69,779,351 (GRCm38)	I967V	probably benign	Het

Other mutations in Nod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Nod1	APN	6	54,944,946 (GRCm38)	missense	probably damaging	1.00
IGL00937:Nod1	APN	6	54,937,364 (GRCm38)	missense	probably benign	0.08
IGL00945:Nod1	APN	6	54,944,586 (GRCm38)	splice site	probably null
IGL01410:Nod1	APN	6	54,944,356 (GRCm38)	missense	probably damaging	1.00
IGL02094:Nod1	APN	6	54,939,390 (GRCm38)	splice site	probably null
IGL02217:Nod1	APN	6	54,943,419 (GRCm38)	missense	possibly damaging	0.63
IGL02573:Nod1	APN	6	54,943,945 (GRCm38)	missense	probably benign	0.02
IGL02944:Nod1	APN	6	54,924,947 (GRCm38)	missense	possibly damaging	0.68
R0108:Nod1	UTSW	6	54,943,749 (GRCm38)	missense	probably benign	0.27
R0148:Nod1	UTSW	6	54,938,217 (GRCm38)	missense	probably damaging	1.00
R0771:Nod1	UTSW	6	54,944,269 (GRCm38)	missense	probably damaging	0.96
R1493:Nod1	UTSW	6	54,944,056 (GRCm38)	missense	probably damaging	1.00
R1540:Nod1	UTSW	6	54,943,975 (GRCm38)	missense	probably benign	0.09
R1660:Nod1	UTSW	6	54,944,233 (GRCm38)	splice site	probably null
R1710:Nod1	UTSW	6	54,944,059 (GRCm38)	missense	probably damaging	0.98
R1911:Nod1	UTSW	6	54,944,440 (GRCm38)	missense	probably damaging	0.96
R2008:Nod1	UTSW	6	54,939,325 (GRCm38)	missense	probably damaging	1.00
R3409:Nod1	UTSW	6	54,944,917 (GRCm38)	missense	probably benign	0.01
R3410:Nod1	UTSW	6	54,944,917 (GRCm38)	missense	probably benign	0.01
R3927:Nod1	UTSW	6	54,944,917 (GRCm38)	missense	probably benign	0.01
R4499:Nod1	UTSW	6	54,943,996 (GRCm38)	missense	probably damaging	1.00
R4608:Nod1	UTSW	6	54,943,756 (GRCm38)	missense	probably damaging	1.00
R5552:Nod1	UTSW	6	54,944,631 (GRCm38)	missense	probably damaging	1.00
R5667:Nod1	UTSW	6	54,933,576 (GRCm38)	missense	probably benign	0.06
R5859:Nod1	UTSW	6	54,930,177 (GRCm38)	missense	probably benign	0.08
R5868:Nod1	UTSW	6	54,939,327 (GRCm38)	missense	probably damaging	1.00
R5995:Nod1	UTSW	6	54,944,554 (GRCm38)	missense	probably damaging	0.99
R6329:Nod1	UTSW	6	54,944,704 (GRCm38)	missense	probably benign	0.00
R6331:Nod1	UTSW	6	54,924,983 (GRCm38)	missense	probably damaging	1.00
R6642:Nod1	UTSW	6	54,948,029 (GRCm38)	missense	probably damaging	1.00
R6798:Nod1	UTSW	6	54,944,611 (GRCm38)	missense	probably damaging	0.97
R6889:Nod1	UTSW	6	54,944,109 (GRCm38)	missense	probably benign	0.27
R7582:Nod1	UTSW	6	54,944,307 (GRCm38)	missense	probably damaging	1.00
R8123:Nod1	UTSW	6	54,937,406 (GRCm38)	missense	probably damaging	1.00
R8317:Nod1	UTSW	6	54,943,440 (GRCm38)	missense	probably damaging	1.00
R8338:Nod1	UTSW	6	54,943,971 (GRCm38)	missense	probably damaging	0.97
R8524:Nod1	UTSW	6	54,948,075 (GRCm38)	missense	probably damaging	1.00
R8896:Nod1	UTSW	6	54,944,292 (GRCm38)	missense	probably benign	0.03
R8961:Nod1	UTSW	6	54,949,476 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGAGCAGTGAGCAATTTGCC -3'
(R):5'- AAGTTCATGCTGTGCTACGCCC -3'

Sequencing Primer
(F):5'- ACCCTTGAGCAGCCTCC -3'
(R):5'- TATATGGACACACTCATGGAGCTG -3'

Posted On

2013-04-11