Mutagenetix > Incidental Mutation

Incidental Mutation 'R6804:Naip6'

533499

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

044917-MU

Accession Numbers

Essential gene?

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

Stock #

R6804 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100417629-100453124 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 100435675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 949 (E949D)

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: E949D

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

SMART Domains

Protein: ENSMUSP00000041766
Gene: ENSMUSG00000078942
AA Change: E949D

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: E949D

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

SMART Domains

Protein: ENSMUSP00000112867
Gene: ENSMUSG00000078942
AA Change: E949D

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.9%

Validation Efficiency

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	A	T	1: 58,343,757 (GRCm39)	Q480L	probably benign	Het
Arid4b	T	A	13: 14,303,792 (GRCm39)	D72E	probably benign	Het
Avil	C	T	10: 126,844,175 (GRCm39)	Q245*	probably null	Het
BC048679	T	C	7: 81,146,612 (GRCm39)	S2G	possibly damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cacna1d	T	C	14: 29,773,622 (GRCm39)	T1723A	probably benign	Het
Cfap91	T	C	16: 38,152,604 (GRCm39)	D202G	probably damaging	Het
Chil3	A	T	3: 106,071,495 (GRCm39)	Y56*	probably null	Het
Clec2i	A	G	6: 128,872,384 (GRCm39)	E172G	probably damaging	Het
Crybg1	C	T	10: 43,842,337 (GRCm39)	D1785N	probably damaging	Het
Csmd1	G	A	8: 16,087,260 (GRCm39)	R1930W	probably damaging	Het
D430041D05Rik	A	C	2: 103,979,371 (GRCm39)	S2019A	possibly damaging	Het
Ep300	T	A	15: 81,525,512 (GRCm39)	Y1445*	probably null	Het
Gne	A	G	4: 44,060,210 (GRCm39)	I61T	probably damaging	Het
Ifit3b	A	T	19: 34,588,947 (GRCm39)	Q41L	possibly damaging	Het
Kplce	T	C	3: 92,776,354 (GRCm39)	T110A	possibly damaging	Het
Llgl2	A	G	11: 115,734,141 (GRCm39)		probably null	Het
Mast3	T	C	8: 71,239,376 (GRCm39)	I417V	probably benign	Het
Mettl21e	T	A	1: 44,257,295 (GRCm39)	I8F	probably benign	Het
Ms4a2	A	G	19: 11,594,899 (GRCm39)	Y183H	probably damaging	Het
Nbea	T	C	3: 55,994,874 (GRCm39)	T181A	probably benign	Het
Nrg1	T	C	8: 32,311,292 (GRCm39)	R476G	probably damaging	Het
Olfm3	A	T	3: 114,916,328 (GRCm39)	Y400F	probably benign	Het
Or12d2	A	G	17: 37,625,021 (GRCm39)	S85P	probably damaging	Het
Or1e33	A	G	11: 73,738,240 (GRCm39)	V237A	probably benign	Het
Or2a25	A	T	6: 42,888,852 (GRCm39)	T132S	probably benign	Het
Or2y1e	A	G	11: 49,218,808 (GRCm39)	D190G	probably benign	Het
Pappa2	T	C	1: 158,764,438 (GRCm39)	S358G	probably benign	Het
Pde4dip	C	A	3: 97,700,564 (GRCm39)	E259*	probably null	Het
Phlpp2	T	A	8: 110,655,197 (GRCm39)	L664Q	probably damaging	Het
Prpf8	A	G	11: 75,390,635 (GRCm39)	K1262R	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Saal1	GGCTTGCACGCCGT	G	7: 46,349,064 (GRCm39)		probably null	Het
Sec31a	C	T	5: 100,530,671 (GRCm39)	V701I	probably benign	Het
Smarca2	A	T	19: 26,729,286 (GRCm39)	R12S	possibly damaging	Het
Spocd1	T	A	4: 129,847,423 (GRCm39)	C537*	probably null	Het
Syt14	T	C	1: 192,584,161 (GRCm39)	E701G	probably damaging	Het
Taf3	T	C	2: 9,923,028 (GRCm39)	Y32C	possibly damaging	Het
Tfeb	T	C	17: 48,100,735 (GRCm39)		probably null	Het
Ttc13	C	A	8: 125,426,426 (GRCm39)	R168L	probably damaging	Het
Vmn2r11	T	A	5: 109,201,350 (GRCm39)	N385Y	probably damaging	Het
Vmn2r54	T	C	7: 12,363,792 (GRCm39)	K367R	probably benign	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
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
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'- AGAAGACTTCCATGAGGACCTGG -3'
(R):5'- CTTCGAGGAAGAACACTGGC -3'

Sequencing Primer
(F):5'- TTCCATGAGGACCTGGAGCAG -3'
(R):5'- GAACACTGGCTTTAAGAGTACTG -3'

Posted On

2018-09-12