Mutagenetix > Incidental Mutation

Incidental Mutation 'R2174:Naip6'

237722

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

040176-MU

Accession Numbers

Essential gene?

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

Stock #

R2174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100417629-100453124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100435495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1009 (M1009I)

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: M1009I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041766
Gene: ENSMUSG00000078942
AA Change: M1009I

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: M1009I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112867
Gene: ENSMUSG00000078942
AA Change: M1009I

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (73/74)

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	T	C	7: 37,894,252 (GRCm39)	I95T	possibly damaging	Het
Adarb1	A	G	10: 77,131,632 (GRCm39)	I619T	probably benign	Het
Aldh2	T	C	5: 121,710,731 (GRCm39)		probably benign	Het
Antxrl	T	A	14: 33,782,357 (GRCm39)	L180Q	probably damaging	Het
Asnsd1	A	T	1: 53,386,760 (GRCm39)	I289N	probably benign	Het
Asxl3	T	G	18: 22,586,701 (GRCm39)	S164A	possibly damaging	Het
Cacnb2	C	T	2: 14,963,578 (GRCm39)	T108I	probably benign	Het
Capn2	A	T	1: 182,307,290 (GRCm39)	I516N	probably benign	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cenpo	T	C	12: 4,267,318 (GRCm39)	K73R	probably benign	Het
Cfap20dc	T	C	14: 8,558,109 (GRCm38)	I159V	probably benign	Het
Clasp1	A	G	1: 118,487,825 (GRCm39)	H823R	probably damaging	Het
Col6a4	T	C	9: 105,937,331 (GRCm39)	D1395G	probably damaging	Het
Ddx60	A	G	8: 62,409,175 (GRCm39)	I404V	probably damaging	Het
Ddx60	G	T	8: 62,470,234 (GRCm39)	M1407I	probably benign	Het
Dennd3	A	T	15: 73,427,154 (GRCm39)	R844W	probably damaging	Het
Depdc1b	A	T	13: 108,498,787 (GRCm39)	K157*	probably null	Het
Dnai7	T	C	6: 145,120,896 (GRCm39)	H641R	probably damaging	Het
Dnajc1	T	C	2: 18,312,762 (GRCm39)	D196G	probably damaging	Het
Fanca	A	G	8: 123,998,009 (GRCm39)	W1226R	probably benign	Het
Fbxl13	A	G	5: 21,787,046 (GRCm39)	V297A	possibly damaging	Het
Fnta	A	T	8: 26,503,498 (GRCm39)	F96I	possibly damaging	Het
Fzd3	T	C	14: 65,449,680 (GRCm39)		probably benign	Het
Gckr	T	C	5: 31,484,353 (GRCm39)	V597A	possibly damaging	Het
Gm43302	T	C	5: 105,422,216 (GRCm39)	K496R	probably benign	Het
Gm5283	A	G	3: 17,285,005 (GRCm39)		noncoding transcript	Het
Gm6741	A	G	17: 91,544,332 (GRCm39)	I32V	probably benign	Het
Gnptab	T	A	10: 88,269,906 (GRCm39)	F870I	probably damaging	Het
Gpx8	G	A	13: 113,182,140 (GRCm39)	P98S	probably benign	Het
Grm2	T	C	9: 106,524,994 (GRCm39)	I574V	probably benign	Het
Gtf3c5	T	C	2: 28,457,787 (GRCm39)	D468G	probably benign	Het
Hectd3	A	T	4: 116,856,898 (GRCm39)	M482L	probably benign	Het
Ier5	G	T	1: 154,974,599 (GRCm39)	P193H	possibly damaging	Het
Inpp4a	A	G	1: 37,435,211 (GRCm39)	N827S	probably damaging	Het
Kif13a	A	G	13: 46,922,652 (GRCm39)	L387P	probably damaging	Het
Map3k1	G	C	13: 111,889,016 (GRCm39)	H1314D	possibly damaging	Het
Mbl2	G	A	19: 30,211,412 (GRCm39)	C11Y	possibly damaging	Het
Msr1	A	G	8: 40,084,381 (GRCm39)	L58P	probably damaging	Het
Mtmr10	T	A	7: 63,986,512 (GRCm39)	F530Y	possibly damaging	Het
Myo7b	A	G	18: 32,116,610 (GRCm39)	L999P	probably damaging	Het
Myoz3	T	C	18: 60,723,296 (GRCm39)	E8G	probably benign	Het
Nav2	T	A	7: 49,102,411 (GRCm39)	M342K	probably damaging	Het
Ndufaf6	T	C	4: 11,070,228 (GRCm39)	H131R	probably benign	Het
Nlrp4a	T	C	7: 26,148,849 (GRCm39)	L152P	probably damaging	Het
Or9s23	A	G	1: 92,501,379 (GRCm39)	N162S	probably benign	Het
Pan3	T	C	5: 147,387,463 (GRCm39)	I144T	possibly damaging	Het
Prkdc	A	T	16: 15,552,786 (GRCm39)	Q2074L	probably benign	Het
Pthlh	G	A	6: 147,158,510 (GRCm39)	T150I	probably benign	Het
Ptprq	A	T	10: 107,541,414 (GRCm39)	Y371N	probably damaging	Het
Rfwd3	A	G	8: 112,009,975 (GRCm39)	S377P	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sap130	T	C	18: 31,810,532 (GRCm39)		probably null	Het
Sap25	T	G	5: 137,640,891 (GRCm39)	M229R	possibly damaging	Het
Scaper	A	T	9: 55,766,321 (GRCm39)	V479E	probably null	Het
Scn3a	T	A	2: 65,337,550 (GRCm39)	D649V	probably damaging	Het
Slco1a7	A	T	6: 141,673,319 (GRCm39)	Y406*	probably null	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Sowahb	T	C	5: 93,192,284 (GRCm39)	E145G	possibly damaging	Het
Stxbp5	T	A	10: 9,711,590 (GRCm39)	I277F	possibly damaging	Het
Tanc1	T	C	2: 59,674,177 (GRCm39)	S1754P	possibly damaging	Het
Tanc2	A	G	11: 105,801,135 (GRCm39)	D1117G	probably benign	Het
Tbc1d31	A	G	15: 57,815,137 (GRCm39)	M605V	possibly damaging	Het
Tekt3	A	T	11: 62,985,514 (GRCm39)	D440V	possibly damaging	Het
Tmem67	C	T	4: 12,063,730 (GRCm39)	W477*	probably null	Het
Tra2a	T	C	6: 49,227,861 (GRCm39)		probably benign	Het
Trappc12	A	G	12: 28,797,380 (GRCm39)	F51L	possibly damaging	Het
Trrap	C	A	5: 144,758,665 (GRCm39)	P2183Q	probably benign	Het
Ubn2	T	A	6: 38,447,076 (GRCm39)		probably null	Het
Unc5d	A	T	8: 29,184,568 (GRCm39)	V644E	probably damaging	Het
Xpo4	A	G	14: 57,827,547 (GRCm39)	L883P	probably damaging	Het
Zbbx	T	G	3: 74,959,721 (GRCm39)	D616A	possibly damaging	Het
Zfp943	T	A	17: 22,211,804 (GRCm39)	C297S	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
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
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'- TGTCTCTGAGACCTCGAGAG -3'
(R):5'- GCCTTTGAGCATGTAAGTGAATGG -3'

Sequencing Primer
(F):5'- GTGAGAAGCAACTCCTGTTCTGC -3'
(R):5'- TGAATGGAGGAGAAATTTTGCTC -3'

Posted On

2014-10-02