Mutagenetix > Incidental Mutation

Incidental Mutation 'R5162:Naip6'

452883

Institutional Source

Beutler Lab

Gene Symbol

Naip6

Ensembl Gene

ENSMUSG00000078942

Gene Name

NLR family, apoptosis inhibitory protein 6

Synonyms

Naip-rs4, Birc1f, Naip-rs4A

MMRRC Submission

042744-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R5162 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100417629-100453124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100437108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 472 (A472T)

Ref Sequence

ENSEMBL: ENSMUSP00000112867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042220] [ENSMUST00000118574]

AlphaFold

Q9JIB6

Predicted Effect

probably benign
Transcript: ENSMUST00000042220
AA Change: A472T

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000041766
Gene: ENSMUSG00000078942
AA Change: A472T

Domain	Start	End	E-Value	Type
BIR	58	129	6.21e-20	SMART
BIR	157	229	8.04e-37	SMART
BIR	276	347	5.19e-31	SMART
Pfam:NACHT	464	618	7.6e-37	PFAM
low complexity region	851	862	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118574
AA Change: A472T

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112867
Gene: ENSMUSG00000078942
AA Change: A472T

Domain	Start	End	E-Value	Type
BIR	58	129	6.21e-20	SMART
BIR	157	229	8.04e-37	SMART
BIR	276	347	5.19e-31	SMART
Pfam:NACHT	464	618	2.5e-35	PFAM
low complexity region	851	862	N/A	INTRINSIC

Meta Mutation Damage Score

0.4073

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: Closest sequence match is AF381772. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,301 (GRCm39)	T229S	probably benign	Het
Adrb3	T	C	8: 27,717,348 (GRCm39)	E367G	probably benign	Het
Ak9	T	A	10: 41,233,653 (GRCm39)	N630K	probably damaging	Het
Atp8b1	T	C	18: 64,694,733 (GRCm39)	I516M	possibly damaging	Het
Bcor	C	T	X: 11,906,725 (GRCm39)	R1551Q	probably damaging	Het
Cry1	T	A	10: 84,969,150 (GRCm39)	H558L	probably benign	Het
Cstdc3	A	T	16: 36,132,918 (GRCm39)	H65L	probably damaging	Het
Cyp3a57	T	A	5: 145,305,893 (GRCm39)	W126R	probably damaging	Het
Dhx36	A	T	3: 62,401,201 (GRCm39)	V355E	probably damaging	Het
Dpp6	A	G	5: 27,604,013 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	T	C	15: 54,710,692 (GRCm39)	D694G	probably benign	Het
Esrp2	T	C	8: 106,859,930 (GRCm39)	E336G	probably damaging	Het
Faah	A	T	4: 115,857,938 (GRCm39)		probably benign	Het
Fat1	G	A	8: 45,478,846 (GRCm39)	G2608R	probably benign	Het
Fbxo8	A	T	8: 57,022,354 (GRCm39)	Y122F	probably damaging	Het
Fgd5	A	G	6: 92,051,215 (GRCm39)	D1497G	probably damaging	Het
Fn3krp	T	C	11: 121,320,410 (GRCm39)	F252L	probably damaging	Het
Fnip2	T	C	3: 79,389,084 (GRCm39)	Y549C	probably damaging	Het
Gcm2	T	C	13: 41,257,131 (GRCm39)	N206S	probably benign	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
H2-T10	T	A	17: 36,429,843 (GRCm39)		probably null	Het
Henmt1	T	C	3: 108,847,366 (GRCm39)		probably null	Het
Man1b1	T	A	2: 25,233,365 (GRCm39)	L246Q	probably damaging	Het
Mdh2	T	C	5: 135,812,329 (GRCm39)		probably null	Het
Mocos	T	C	18: 24,787,109 (GRCm39)	F43L	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Naip5	T	A	13: 100,359,914 (GRCm39)	I441F	possibly damaging	Het
Nars2	T	C	7: 96,709,027 (GRCm39)		probably benign	Het
Ncoa2	A	T	1: 13,245,396 (GRCm39)	M434K	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,394 (GRCm38)		noncoding transcript	Het
Or14j8	T	A	17: 38,263,255 (GRCm39)	Q220L	probably benign	Het
Or9a2	G	T	6: 41,748,706 (GRCm39)	H176N	possibly damaging	Het
Pals2	T	A	6: 50,155,495 (GRCm39)	W259R	probably damaging	Het
Pars2	A	G	4: 106,511,735 (GRCm39)	T506A	probably benign	Het
Pkp2	T	C	16: 16,078,200 (GRCm39)	S481P	probably damaging	Het
Plod3	T	C	5: 137,020,161 (GRCm39)	W459R	probably damaging	Het
Pramel13	A	T	4: 144,121,482 (GRCm39)	L181M	probably damaging	Het
Prdm10	A	T	9: 31,251,714 (GRCm39)	I361F	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Raver2	T	C	4: 100,959,921 (GRCm39)	C134R	probably damaging	Het
Rnf130	G	C	11: 49,943,722 (GRCm39)	A123P	probably damaging	Het
Slc29a4	G	A	5: 142,707,207 (GRCm39)	A517T	possibly damaging	Het
Slc38a6	T	A	12: 73,376,759 (GRCm39)	S138T	possibly damaging	Het
Spred1	T	C	2: 117,008,102 (GRCm39)	V336A	possibly damaging	Het
Sptlc3	T	A	2: 139,473,263 (GRCm39)	M504K	probably benign	Het
Syt11	T	C	3: 88,655,149 (GRCm39)	D78G	probably damaging	Het
Trim23	C	T	13: 104,317,682 (GRCm39)	T61I	probably damaging	Het
Tsg101	T	C	7: 46,542,174 (GRCm39)	T260A	probably damaging	Het
Tyw5	T	C	1: 57,440,618 (GRCm39)	Y48C	probably damaging	Het
Utp25	G	T	1: 192,796,089 (GRCm39)	T192K	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Vmn2r89	C	A	14: 51,693,620 (GRCm39)	H323Q	possibly damaging	Het
Vps18	A	G	2: 119,123,423 (GRCm39)	S117G	probably benign	Het
Zfp93	C	G	7: 23,975,757 (GRCm39)	Q581E	probably damaging	Het

Other mutations in Naip6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00677:Naip6	APN	13	100,452,525 (GRCm39)	missense	probably benign	0.03
IGL01123:Naip6	APN	13	100,440,946 (GRCm39)	missense	probably benign	0.02
IGL01151:Naip6	APN	13	100,435,601 (GRCm39)	missense	probably benign	0.00
IGL01382:Naip6	APN	13	100,436,364 (GRCm39)	missense	possibly damaging	0.95
IGL01415:Naip6	APN	13	100,439,798 (GRCm39)	missense	probably benign	0.17
IGL01654:Naip6	APN	13	100,435,853 (GRCm39)	missense	probably benign	0.00
IGL01662:Naip6	APN	13	100,436,862 (GRCm39)	missense	probably damaging	1.00
IGL01726:Naip6	APN	13	100,439,760 (GRCm39)	missense	probably benign	0.02
IGL01810:Naip6	APN	13	100,424,603 (GRCm39)	splice site	probably benign
IGL01867:Naip6	APN	13	100,436,820 (GRCm39)	missense	probably benign	0.40
IGL01926:Naip6	APN	13	100,436,704 (GRCm39)	missense	probably damaging	1.00
IGL01964:Naip6	APN	13	100,435,238 (GRCm39)	splice site	probably benign
IGL02145:Naip6	APN	13	100,433,486 (GRCm39)	missense	possibly damaging	0.77
IGL02160:Naip6	APN	13	100,435,933 (GRCm39)	missense	probably benign	0.01
IGL02214:Naip6	APN	13	100,452,567 (GRCm39)	missense	probably damaging	1.00
IGL02342:Naip6	APN	13	100,439,748 (GRCm39)	missense	possibly damaging	0.69
IGL02568:Naip6	APN	13	100,452,780 (GRCm39)	missense	probably damaging	1.00
IGL02573:Naip6	APN	13	100,435,979 (GRCm39)	nonsense	probably null
IGL02680:Naip6	APN	13	100,420,256 (GRCm39)	missense	probably benign
IGL02829:Naip6	APN	13	100,437,273 (GRCm39)	missense	probably benign	0.11
IGL02833:Naip6	APN	13	100,436,121 (GRCm39)	missense	probably damaging	1.00
IGL02851:Naip6	APN	13	100,437,168 (GRCm39)	missense	probably benign	0.01
IGL02860:Naip6	APN	13	100,436,984 (GRCm39)	missense	possibly damaging	0.95
IGL02886:Naip6	APN	13	100,436,984 (GRCm39)	missense	possibly damaging	0.95
IGL03155:Naip6	APN	13	100,452,932 (GRCm39)	missense	possibly damaging	0.62
R0032:Naip6	UTSW	13	100,439,745 (GRCm39)	missense	probably benign	0.00
R0310:Naip6	UTSW	13	100,444,721 (GRCm39)	missense	possibly damaging	0.72
R0437:Naip6	UTSW	13	100,433,432 (GRCm39)	missense	possibly damaging	0.75
R0472:Naip6	UTSW	13	100,438,768 (GRCm39)	missense	probably benign	0.02
R0560:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
R0638:Naip6	UTSW	13	100,437,036 (GRCm39)	missense	probably benign	0.00
R0792:Naip6	UTSW	13	100,420,274 (GRCm39)	missense	possibly damaging	0.78
R0963:Naip6	UTSW	13	100,452,983 (GRCm39)	missense	probably benign	0.11
R1102:Naip6	UTSW	13	100,440,923 (GRCm39)	missense	possibly damaging	0.62
R1278:Naip6	UTSW	13	100,436,870 (GRCm39)	missense	probably damaging	1.00
R1462:Naip6	UTSW	13	100,436,748 (GRCm39)	missense	possibly damaging	0.64
R1462:Naip6	UTSW	13	100,436,748 (GRCm39)	missense	possibly damaging	0.64
R1544:Naip6	UTSW	13	100,452,983 (GRCm39)	missense	probably benign
R1595:Naip6	UTSW	13	100,435,602 (GRCm39)	missense	probably damaging	0.96
R1749:Naip6	UTSW	13	100,444,763 (GRCm39)	missense	probably benign	0.03
R1838:Naip6	UTSW	13	100,452,644 (GRCm39)	missense	probably damaging	0.99
R1863:Naip6	UTSW	13	100,437,067 (GRCm39)	missense	probably benign	0.03
R1914:Naip6	UTSW	13	100,435,936 (GRCm39)	missense	probably benign	0.13
R2001:Naip6	UTSW	13	100,437,237 (GRCm39)	missense	probably benign	0.44
R2082:Naip6	UTSW	13	100,440,852 (GRCm39)	splice site	probably null
R2143:Naip6	UTSW	13	100,436,367 (GRCm39)	missense	probably damaging	1.00
R2174:Naip6	UTSW	13	100,435,495 (GRCm39)	missense	probably benign
R2266:Naip6	UTSW	13	100,420,067 (GRCm39)	missense	possibly damaging	0.46
R2284:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
R2285:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
R2286:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
R2351:Naip6	UTSW	13	100,420,169 (GRCm39)	missense	probably damaging	1.00
R2363:Naip6	UTSW	13	100,452,928 (GRCm39)	missense	possibly damaging	0.90
R2445:Naip6	UTSW	13	100,437,176 (GRCm39)	missense	probably damaging	0.99
R2971:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
R2975:Naip6	UTSW	13	100,424,695 (GRCm39)	missense	probably damaging	1.00
R3081:Naip6	UTSW	13	100,436,961 (GRCm39)	missense	probably benign
R3082:Naip6	UTSW	13	100,452,925 (GRCm39)	missense	probably benign	0.00
R3122:Naip6	UTSW	13	100,453,031 (GRCm39)	missense	probably benign	0.00
R3417:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
R3943:Naip6	UTSW	13	100,431,247 (GRCm39)	missense	probably benign	0.01
R3944:Naip6	UTSW	13	100,431,247 (GRCm39)	missense	probably benign	0.01
R4080:Naip6	UTSW	13	100,435,815 (GRCm39)	missense	probably damaging	1.00
R4166:Naip6	UTSW	13	100,452,657 (GRCm39)	missense	probably benign	0.23
R4396:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
R4397:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
R4418:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
R4512:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
R4670:Naip6	UTSW	13	100,431,239 (GRCm39)	critical splice donor site	probably null
R4671:Naip6	UTSW	13	100,431,239 (GRCm39)	critical splice donor site	probably null
R4722:Naip6	UTSW	13	100,443,580 (GRCm39)	missense	possibly damaging	0.72
R4811:Naip6	UTSW	13	100,422,299 (GRCm39)	missense	probably damaging	1.00
R4900:Naip6	UTSW	13	100,433,477 (GRCm39)	missense	probably damaging	0.99
R5316:Naip6	UTSW	13	100,420,290 (GRCm39)	missense	probably benign	0.00
R5403:Naip6	UTSW	13	100,436,585 (GRCm39)	missense	probably benign	0.12
R5437:Naip6	UTSW	13	100,439,812 (GRCm39)	nonsense	probably null
R5507:Naip6	UTSW	13	100,435,423 (GRCm39)	missense	probably benign	0.01
R5631:Naip6	UTSW	13	100,436,646 (GRCm39)	missense	probably benign	0.02
R5657:Naip6	UTSW	13	100,436,909 (GRCm39)	missense	probably benign
R5684:Naip6	UTSW	13	100,436,888 (GRCm39)	missense	probably damaging	1.00
R5786:Naip6	UTSW	13	100,436,724 (GRCm39)	missense	probably benign
R5787:Naip6	UTSW	13	100,436,724 (GRCm39)	missense	probably benign
R5788:Naip6	UTSW	13	100,436,724 (GRCm39)	missense	probably benign
R5878:Naip6	UTSW	13	100,436,181 (GRCm39)	missense	probably damaging	1.00
R5895:Naip6	UTSW	13	100,452,500 (GRCm39)	missense	possibly damaging	0.90
R5898:Naip6	UTSW	13	100,435,829 (GRCm39)	missense	possibly damaging	0.93
R6113:Naip6	UTSW	13	100,435,794 (GRCm39)	missense	possibly damaging	0.96
R6141:Naip6	UTSW	13	100,444,741 (GRCm39)	missense	possibly damaging	0.91
R6199:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
R6321:Naip6	UTSW	13	100,436,909 (GRCm39)	missense	probably benign
R6402:Naip6	UTSW	13	100,437,226 (GRCm39)	missense	probably benign	0.30
R6435:Naip6	UTSW	13	100,431,249 (GRCm39)	missense	probably benign	0.04
R6477:Naip6	UTSW	13	100,452,516 (GRCm39)	missense	probably damaging	1.00
R6601:Naip6	UTSW	13	100,420,266 (GRCm39)	missense	probably benign
R6638:Naip6	UTSW	13	100,436,909 (GRCm39)	missense	probably benign
R6639:Naip6	UTSW	13	100,436,909 (GRCm39)	missense	probably benign
R6804:Naip6	UTSW	13	100,435,675 (GRCm39)	missense	probably benign
R6922:Naip6	UTSW	13	100,438,706 (GRCm39)	missense	possibly damaging	0.88
R6975:Naip6	UTSW	13	100,452,773 (GRCm39)	missense	probably damaging	1.00
R7050:Naip6	UTSW	13	100,452,007 (GRCm39)	missense	probably damaging	1.00
R7135:Naip6	UTSW	13	100,436,927 (GRCm39)	missense	probably damaging	1.00
R7140:Naip6	UTSW	13	100,436,708 (GRCm39)	missense	possibly damaging	0.95
R7182:Naip6	UTSW	13	100,452,657 (GRCm39)	missense	probably benign	0.23
R7196:Naip6	UTSW	13	100,436,666 (GRCm39)	missense	probably benign	0.10
R7234:Naip6	UTSW	13	100,452,011 (GRCm39)	nonsense	probably null
R7259:Naip6	UTSW	13	100,440,863 (GRCm39)	missense	probably damaging	1.00
R7322:Naip6	UTSW	13	100,435,896 (GRCm39)	missense	possibly damaging	0.94
R7332:Naip6	UTSW	13	100,437,209 (GRCm39)	missense	possibly damaging	0.62
R7339:Naip6	UTSW	13	100,452,527 (GRCm39)	missense	probably damaging	1.00
R7353:Naip6	UTSW	13	100,436,259 (GRCm39)	missense	probably benign	0.00
R7485:Naip6	UTSW	13	100,420,359 (GRCm39)	missense	probably benign	0.07
R7597:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
R7835:Naip6	UTSW	13	100,452,512 (GRCm39)	missense	probably benign	0.19
R7840:Naip6	UTSW	13	100,451,979 (GRCm39)	missense	probably damaging	1.00
R8082:Naip6	UTSW	13	100,436,961 (GRCm39)	missense	probably benign
R8082:Naip6	UTSW	13	100,436,909 (GRCm39)	missense	probably benign
R8103:Naip6	UTSW	13	100,437,851 (GRCm39)	missense	probably benign	0.00
R8164:Naip6	UTSW	13	100,452,797 (GRCm39)	missense	probably benign	0.00
R8206:Naip6	UTSW	13	100,431,344 (GRCm39)	nonsense	probably null
R8258:Naip6	UTSW	13	100,452,920 (GRCm39)	missense	probably benign	0.02
R8259:Naip6	UTSW	13	100,452,920 (GRCm39)	missense	probably benign	0.02
R8348:Naip6	UTSW	13	100,436,894 (GRCm39)	missense	possibly damaging	0.61
R8405:Naip6	UTSW	13	100,436,784 (GRCm39)	missense	possibly damaging	0.89
R8406:Naip6	UTSW	13	100,436,784 (GRCm39)	missense	possibly damaging	0.89
R8441:Naip6	UTSW	13	100,422,265 (GRCm39)	missense	possibly damaging	0.77
R8448:Naip6	UTSW	13	100,436,894 (GRCm39)	missense	possibly damaging	0.61
R8465:Naip6	UTSW	13	100,433,423 (GRCm39)	missense	possibly damaging	0.95
R8501:Naip6	UTSW	13	100,436,784 (GRCm39)	missense	possibly damaging	0.89
R8502:Naip6	UTSW	13	100,436,784 (GRCm39)	missense	possibly damaging	0.89
R8687:Naip6	UTSW	13	100,435,636 (GRCm39)	missense	probably benign	0.10
R8806:Naip6	UTSW	13	100,437,161 (GRCm39)	missense	possibly damaging	0.93
R9186:Naip6	UTSW	13	100,436,390 (GRCm39)	missense	possibly damaging	0.89
R9340:Naip6	UTSW	13	100,452,494 (GRCm39)	missense	probably damaging	1.00
R9352:Naip6	UTSW	13	100,437,893 (GRCm39)	missense	possibly damaging	0.85
R9585:Naip6	UTSW	13	100,436,577 (GRCm39)	missense	probably damaging	0.96
R9597:Naip6	UTSW	13	100,436,646 (GRCm39)	missense	probably benign	0.02
R9601:Naip6	UTSW	13	100,436,961 (GRCm39)	missense	probably benign
X0066:Naip6	UTSW	13	100,451,970 (GRCm39)	nonsense	probably null
Z1177:Naip6	UTSW	13	100,437,308 (GRCm39)	missense	probably damaging	1.00
Z1177:Naip6	UTSW	13	100,435,925 (GRCm39)	missense	probably benign	0.20
Z1177:Naip6	UTSW	13	100,452,638 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCACCTGGTGTTGTAACTG -3'
(R):5'- CCAGTTTCTGCCACATGAAC -3'

Sequencing Primer
(F):5'- ATGCTGCTGCTCAGACAC -3'
(R):5'- AACTTGCCAGAAGTGTGCTC -3'

Posted On

2017-01-23