Mutagenetix > Incidental Mutation

Incidental Mutation 'R4418:Naip6'

326964

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

041139-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R4418 (G1)

Quality Score

100

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (72/76)

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	G	1: 159,872,372 (GRCm39)		noncoding transcript	Het
Acot12	A	G	13: 91,932,524 (GRCm39)	T507A	possibly damaging	Het
Agap2	T	G	10: 126,927,519 (GRCm39)	C1113W	probably damaging	Het
Ap3s1-ps2	A	T	8: 95,131,921 (GRCm39)		noncoding transcript	Het
B3gnt3	T	C	8: 72,146,413 (GRCm39)	R39G	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Cdcp3	A	T	7: 130,849,194 (GRCm39)	D899V	possibly damaging	Het
Chad	C	T	11: 94,458,663 (GRCm39)	H271Y	possibly damaging	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Col6a1	T	A	10: 76,554,239 (GRCm39)	K323*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dclre1c	T	C	2: 3,453,972 (GRCm39)	F285S	possibly damaging	Het
Dctn2	T	G	10: 127,114,234 (GRCm39)	M360R	probably benign	Het
Dele1	T	C	18: 38,394,340 (GRCm39)		probably null	Het
Dgka	A	T	10: 128,563,963 (GRCm39)	L462Q	probably damaging	Het
Drg2	A	C	11: 60,358,972 (GRCm39)	K364T	probably damaging	Het
Dync1li1	T	A	9: 114,535,238 (GRCm39)	S167R	probably damaging	Het
Entrep1	T	C	19: 23,956,799 (GRCm39)	T365A	probably benign	Het
Fer	A	T	17: 64,336,286 (GRCm39)	D554V	possibly damaging	Het
Fignl2	A	G	15: 100,951,830 (GRCm39)	S151P	possibly damaging	Het
Gbgt1	A	G	2: 28,388,420 (GRCm39)	Y35C	probably damaging	Het
Gm6526	T	A	14: 43,986,302 (GRCm39)	I79K	probably damaging	Het
Gpr6	T	G	10: 40,946,604 (GRCm39)	N326T	probably damaging	Het
H2bc4	C	T	13: 23,868,486 (GRCm39)	T91M	probably damaging	Het
Hcn4	C	T	9: 58,751,178 (GRCm39)	T268M	probably benign	Het
Hnf4g	A	G	3: 3,713,154 (GRCm39)	M243V	possibly damaging	Het
Homer1	A	G	13: 93,538,577 (GRCm39)	E314G	probably damaging	Het
Hs6st1	T	C	1: 36,143,108 (GRCm39)	Y348H	probably damaging	Het
Ifitm6	A	T	7: 140,595,984 (GRCm39)	I103N	probably damaging	Het
Ipo5	T	G	14: 121,181,305 (GRCm39)	C944G	possibly damaging	Het
Kcnb1	C	A	2: 166,947,595 (GRCm39)	E418*	probably null	Het
Kcnk2	G	A	1: 188,988,924 (GRCm39)	R207C	probably damaging	Het
Kctd8	T	C	5: 69,498,505 (GRCm39)	E47G	probably damaging	Het
Klhdc2	C	T	12: 69,354,371 (GRCm39)		probably benign	Het
Lrrc37	T	C	11: 103,509,140 (GRCm39)		probably benign	Het
Mgat1	A	G	11: 49,152,072 (GRCm39)	Y185C	probably damaging	Het
Mmp25	T	A	17: 23,863,044 (GRCm39)	R122S	probably damaging	Het
Mrpl39	C	A	16: 84,522,012 (GRCm39)		probably null	Het
Nek1	T	C	8: 61,559,898 (GRCm39)	F1007S	probably damaging	Het
Neto1	T	C	18: 86,422,981 (GRCm39)	M146T	probably benign	Het
Opn1sw	G	A	6: 29,379,423 (GRCm39)	R45*	probably null	Het
Osbpl5	A	T	7: 143,263,552 (GRCm39)	C98*	probably null	Het
Pacc1	T	A	1: 191,080,629 (GRCm39)	V283E	probably damaging	Het
Pcdhb7	C	T	18: 37,476,535 (GRCm39)	A557V	probably benign	Het
Pecam1	A	G	11: 106,586,748 (GRCm39)	F155L	possibly damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pmfbp1	C	A	8: 110,257,265 (GRCm39)	Q609K	probably benign	Het
Pnpo	A	T	11: 96,831,795 (GRCm39)		probably null	Het
Ppp2cb	G	A	8: 34,107,077 (GRCm39)	R254Q	probably benign	Het
Qser1	A	T	2: 104,619,766 (GRCm39)	S349T	probably damaging	Het
Rnf167	T	A	11: 70,538,743 (GRCm39)	W17R	probably damaging	Het
Rpl21-ps4	A	G	14: 11,227,879 (GRCm38)		noncoding transcript	Het
Rxfp2	A	T	5: 149,972,265 (GRCm39)	H158L	probably benign	Het
Ryr3	C	T	2: 112,661,569 (GRCm39)	C1807Y	probably damaging	Het
Scaper	T	A	9: 55,745,464 (GRCm39)	E601D	probably damaging	Het
Secisbp2l	A	T	2: 125,594,835 (GRCm39)	C542S	probably benign	Het
Slc6a19	A	G	13: 73,832,514 (GRCm39)	V393A	possibly damaging	Het
Stil	A	G	4: 114,866,574 (GRCm39)	N176S	probably benign	Het
Tap1	T	A	17: 34,407,353 (GRCm39)		probably null	Het
Tcl1b3	A	T	12: 105,159,844 (GRCm39)	Q105L	probably damaging	Het
Trappc10	G	T	10: 78,053,022 (GRCm39)	A251D	probably damaging	Het
Trim43a	G	T	9: 88,464,206 (GRCm39)	C39F	probably damaging	Het
Ttn	A	T	2: 76,719,825 (GRCm39)		probably benign	Het
Vmn2r110	A	T	17: 20,803,951 (GRCm39)	L208*	probably null	Het
Vmn2r88	G	T	14: 51,655,538 (GRCm39)	L583F	probably damaging	Het
Wasf1	C	T	10: 40,812,578 (GRCm39)	H456Y	unknown	Het
Zfp120	A	G	2: 149,960,105 (GRCm39)	I73T	possibly damaging	Het
Zfp990	T	C	4: 145,263,298 (GRCm39)	C99R	possibly 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
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
R5162:Naip6	UTSW	13	100,437,108 (GRCm39)	missense	probably benign	0.08
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'- CACCTGGTGTTGTAACTGCTG -3'
(R):5'- AACCAGTTTCTGCCACATGAAC -3'

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

Posted On

2015-07-07