Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Naip6'

56832

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

038827-MU

Accession Numbers

Essential gene?

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

Stock #

R0638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100417629-100453124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100437036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 496 (Y496N)

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: Y496N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041766
Gene: ENSMUSG00000078942
AA Change: Y496N

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: Y496N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112867
Gene: ENSMUSG00000078942
AA Change: Y496N

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: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,547,572 (GRCm39)	Q161K	probably benign	Het
Aatk	A	T	11: 119,900,748 (GRCm39)	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,321,535 (GRCm39)	F463L	possibly damaging	Het
Antxr2	C	T	5: 98,108,496 (GRCm39)	W338*	probably null	Het
Apc2	T	C	10: 80,140,801 (GRCm39)	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,192,389 (GRCm39)		probably null	Het
Arrdc5	A	G	17: 56,607,020 (GRCm39)	V75A	possibly damaging	Het
Atg16l2	A	T	7: 100,949,317 (GRCm39)		probably null	Het
Cacna1i	A	G	15: 80,265,281 (GRCm39)	N1511S	possibly damaging	Het
Cad	T	C	5: 31,235,032 (GRCm39)	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,035,753 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,801,765 (GRCm39)	D975G	probably damaging	Het
Dagla	T	C	19: 10,232,247 (GRCm39)	I480V	probably damaging	Het
Efl1	C	T	7: 82,301,095 (GRCm39)	T33I	probably damaging	Het
Esp36	A	G	17: 38,728,060 (GRCm39)	F74L	probably benign	Het
Faim	T	C	9: 98,874,149 (GRCm39)		probably benign	Het
Fam83h	G	T	15: 75,875,776 (GRCm39)	H520Q	probably benign	Het
Fbn2	A	T	18: 58,178,446 (GRCm39)	C1931S	probably damaging	Het
Frs3	A	G	17: 48,012,581 (GRCm39)	D96G	probably benign	Het
Gbp4	A	G	5: 105,269,706 (GRCm39)	M374T	probably damaging	Het
Gimap1	C	T	6: 48,718,359 (GRCm39)		probably benign	Het
Gm10010	A	G	6: 128,177,576 (GRCm39)		noncoding transcript	Het
Gm10355	T	C	3: 101,214,214 (GRCm39)		noncoding transcript	Het
Gmip	C	T	8: 70,264,095 (GRCm39)		probably benign	Het
Gpc2	A	T	5: 138,276,796 (GRCm39)	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,468,396 (GRCm39)	V45M	probably benign	Het
Il15	T	C	8: 83,069,890 (GRCm39)	E58G	probably damaging	Het
Kat2b	T	C	17: 53,951,771 (GRCm39)		probably benign	Het
Kcnh7	C	A	2: 62,607,854 (GRCm39)	V576L	probably benign	Het
Lrrc66	T	A	5: 73,772,816 (GRCm39)		probably benign	Het
Mical1	A	G	10: 41,358,235 (GRCm39)	E416G	probably benign	Het
Mroh3	A	G	1: 136,118,740 (GRCm39)	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,699,634 (GRCm39)		probably benign	Het
Nfyc	A	G	4: 120,626,081 (GRCm39)	S73P	probably benign	Het
Or10v9	C	T	19: 11,832,487 (GRCm39)	V277M	probably damaging	Het
Or10v9	A	C	19: 11,832,732 (GRCm39)	V195G	probably damaging	Het
Or1e23	T	A	11: 73,407,750 (GRCm39)	I92F	probably damaging	Het
Or5ak25	A	G	2: 85,268,845 (GRCm39)	I219T	probably benign	Het
Or6c69b	T	A	10: 129,627,101 (GRCm39)	D119V	probably damaging	Het
P2ry14	A	G	3: 59,022,869 (GRCm39)	V206A	probably benign	Het
Polg	G	A	7: 79,109,896 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Ptgs1	G	A	2: 36,130,868 (GRCm39)		probably benign	Het
Pus7l	A	G	15: 94,421,298 (GRCm39)	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,184,112 (GRCm39)	T1547A	probably benign	Het
Rif1	T	C	2: 52,001,600 (GRCm39)	S1685P	probably benign	Het
Rnf213	T	C	11: 119,361,036 (GRCm39)	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,810,670 (GRCm39)	D229G	probably benign	Het
Serpina3j	T	C	12: 104,281,078 (GRCm39)	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,070,441 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,347 (GRCm39)	D847G	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Steap4	T	C	5: 8,027,030 (GRCm39)		probably benign	Het
Tg	A	C	15: 66,589,057 (GRCm39)	T13P	probably damaging	Het
Timeless	T	A	10: 128,080,542 (GRCm39)	Y474*	probably null	Het
Tmem94	T	C	11: 115,682,886 (GRCm39)		probably null	Het
Trdmt1	G	A	2: 13,521,459 (GRCm39)		probably benign	Het
Trim23	T	C	13: 104,337,817 (GRCm39)	Y522H	probably benign	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Txnl1	A	G	18: 63,825,135 (GRCm39)		probably benign	Het
Unkl	T	C	17: 25,427,057 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,639,437 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,910,908 (GRCm39)	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,049,648 (GRCm39)	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,466 (GRCm39)	K495E	probably benign	Het
Wrnip1	G	A	13: 33,005,073 (GRCm39)	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,983,563 (GRCm39)	R660G	probably benign	Het
Zfp280c	A	G	X: 47,637,580 (GRCm39)		probably benign	Het
Zfp707	G	A	15: 75,846,978 (GRCm39)	A291T	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
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
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'- TGAACAGCGATCAATAAGCAGGTCC -3'
(R):5'- CATCATTTCAAAGCACGTCAGCCAG -3'

Sequencing Primer
(F):5'- CCGGAACAAGTAGTTTTTTGTAATC -3'
(R):5'- TCAGCCAGCCTGTGCAAG -3'

Posted On

2013-07-11