Mutagenetix > Incidental Mutation

Incidental Mutation 'R9354:Naip1'

708286

Institutional Source

Beutler Lab

Gene Symbol

Naip1

Ensembl Gene

ENSMUSG00000021640

Gene Name

NLR family, apoptosis inhibitory protein 1

Synonyms

Naip, Birc1a, D13Lsd1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9354 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100544272-100589372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100563994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 389 (V389A)

Ref Sequence

ENSEMBL: ENSMUSP00000152253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022142] [ENSMUST00000221727] [ENSMUST00000221943] [ENSMUST00000222155]

AlphaFold

Q9QWK5

Predicted Effect

silent
Transcript: ENSMUST00000022142

SMART Domains

Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640

Domain	Start	End	E-Value	Type
low complexity region	36	51	N/A	INTRINSIC
BIR	58	129	1.18e-20	SMART
BIR	157	229	1.06e-36	SMART
BIR	276	347	7.82e-26	SMART
AAA	462	603	1.14e-2	SMART
low complexity region	908	919	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221727
AA Change: V389A

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000221943

Predicted Effect

silent
Transcript: ENSMUST00000222155

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,436,873 (GRCm39)	Q181R	unknown	Het
Acsl1	T	G	8: 46,966,753 (GRCm39)	C242G	probably benign	Het
Agap2	A	C	10: 126,923,104 (GRCm39)	N646T	unknown	Het
Ankrd44	A	T	1: 54,687,438 (GRCm39)	*994R	probably null	Het
Apol7c	C	T	15: 77,410,112 (GRCm39)	R278H	possibly damaging	Het
Birc6	A	G	17: 74,921,401 (GRCm39)	E2166G	probably benign	Het
Caskin2	G	A	11: 115,693,468 (GRCm39)	T528M	probably damaging	Het
Ccdc30	G	T	4: 119,230,850 (GRCm39)	P15Q	possibly damaging	Het
Cemip2	A	G	19: 21,779,389 (GRCm39)	S400G	probably benign	Het
Cenpf	G	A	1: 189,379,114 (GRCm39)	T45I		Het
Cep68	T	C	11: 20,188,569 (GRCm39)	E612G	probably damaging	Het
Chpf2	T	C	5: 24,796,392 (GRCm39)	L446P	probably damaging	Het
Ctsl	A	T	13: 64,516,850 (GRCm39)	Y40N	probably damaging	Het
Dis3l	T	C	9: 64,221,922 (GRCm39)	N496S	probably benign	Het
Espnl	A	T	1: 91,272,323 (GRCm39)	D561V	probably benign	Het
Flnb	T	A	14: 7,818,411 (GRCm38)	L87Q	probably benign	Het
Gbp9	T	A	5: 105,232,825 (GRCm39)	I276F	possibly damaging	Het
Gid4	G	T	11: 60,308,618 (GRCm39)	R46L	probably benign	Het
Gper1	G	A	5: 139,412,029 (GRCm39)	D125N	possibly damaging	Het
Gpr146	A	G	5: 139,378,366 (GRCm39)	N56S	probably benign	Het
Grhpr	G	T	4: 44,981,465 (GRCm39)	R5L	probably benign	Het
Gstm6	A	T	3: 107,850,018 (GRCm39)	N59K	probably damaging	Het
Hdac7	A	T	15: 97,694,769 (GRCm39)	F802L	probably damaging	Het
Igfbpl1	A	T	4: 45,816,348 (GRCm39)	V159D	probably damaging	Het
Itga8	T	C	2: 12,237,668 (GRCm39)	S351G	possibly damaging	Het
Itgad	C	A	7: 127,785,146 (GRCm39)	H354Q	probably damaging	Het
Jmjd1c	T	C	10: 67,059,875 (GRCm39)	S641P	probably damaging	Het
Klhl33	T	C	14: 51,130,385 (GRCm39)	T110A	probably benign	Het
Lcorl	T	A	5: 45,890,968 (GRCm39)	K545*	probably null	Het
Lilra6	A	G	7: 3,914,628 (GRCm39)	S546P	probably damaging	Het
Ly6c1	T	A	15: 74,916,471 (GRCm39)	I124F	probably benign	Het
Map4	A	G	9: 109,897,847 (GRCm39)	T858A	probably benign	Het
Marchf5	G	T	19: 37,185,264 (GRCm39)		probably benign	Het
Muc2	A	G	7: 141,307,157 (GRCm39)	K769E		Het
Myh6	T	A	14: 55,200,992 (GRCm39)	I157F	probably damaging	Het
Or52b3	G	A	7: 102,204,397 (GRCm39)	R302H	possibly damaging	Het
Pcdhgc4	A	G	18: 37,949,640 (GRCm39)	H352R	probably benign	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pick1	T	C	15: 79,123,848 (GRCm39)	V73A	probably damaging	Het
Ppwd1	C	T	13: 104,342,080 (GRCm39)	V625I	probably benign	Het
Prss59	A	G	6: 40,905,473 (GRCm39)	V61A	probably damaging	Het
Prune2	A	G	19: 17,099,986 (GRCm39)	E1830G	probably benign	Het
Ralgapb	A	G	2: 158,279,313 (GRCm39)	N445S	possibly damaging	Het
Rapgef6	G	T	11: 54,510,749 (GRCm39)	R222L	possibly damaging	Het
Rorc	A	T	3: 94,280,170 (GRCm39)		probably benign	Het
Rps6ka1	A	C	4: 133,594,432 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,725,757 (GRCm39)	Y1164C	probably benign	Het
Sema5a	T	A	15: 32,562,902 (GRCm39)	Y304*	probably null	Het
Slc26a4	A	T	12: 31,585,255 (GRCm39)	V513D	possibly damaging	Het
Slf2	T	A	19: 44,936,471 (GRCm39)	D705E	probably damaging	Het
Spag17	A	G	3: 99,934,905 (GRCm39)	T704A	probably benign	Het
Tex15	C	G	8: 34,063,344 (GRCm39)	Q925E	possibly damaging	Het
Trim38	A	T	13: 23,969,875 (GRCm39)	T145S	probably benign	Het
Trpm3	G	A	19: 22,425,696 (GRCm39)	C17Y	probably benign	Het
Usp42	A	G	5: 143,701,027 (GRCm39)	Y999H	probably benign	Het
Vat1	A	C	11: 101,351,441 (GRCm39)	M300R	probably benign	Het
Vmn1r85	T	A	7: 12,818,725 (GRCm39)	I140F	probably damaging	Het
Vmn2r57	T	C	7: 41,049,663 (GRCm39)	I695M	probably benign	Het
Wnk1	C	T	6: 119,942,660 (GRCm39)	R789Q	unknown	Het
Zswim5	G	A	4: 116,844,232 (GRCm39)	G1090D	probably damaging	Het

Other mutations in Naip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Naip1	APN	13	100,580,228 (GRCm39)	critical splice acceptor site	probably null
IGL01145:Naip1	APN	13	100,545,629 (GRCm39)	missense	probably benign	0.00
IGL01356:Naip1	APN	13	100,559,722 (GRCm39)	missense	probably damaging	0.99
IGL01414:Naip1	APN	13	100,545,681 (GRCm39)	critical splice acceptor site	probably null
IGL01505:Naip1	APN	13	100,562,441 (GRCm39)	missense	probably damaging	1.00
IGL01573:Naip1	APN	13	100,563,890 (GRCm39)	missense	probably benign	0.03
IGL01931:Naip1	APN	13	100,545,540 (GRCm39)	nonsense	probably null
IGL02043:Naip1	APN	13	100,563,304 (GRCm39)	missense	probably benign	0.03
IGL02097:Naip1	APN	13	100,562,096 (GRCm39)	missense	probably benign	0.03
IGL02331:Naip1	APN	13	100,563,304 (GRCm39)	missense	probably benign	0.03
IGL02627:Naip1	APN	13	100,562,156 (GRCm39)	missense	possibly damaging	0.68
IGL02675:Naip1	APN	13	100,545,626 (GRCm39)	missense	probably benign
IGL02801:Naip1	APN	13	100,580,876 (GRCm39)	missense	probably damaging	1.00
IGL02851:Naip1	APN	13	100,569,770 (GRCm39)	missense	probably damaging	1.00
IGL03038:Naip1	APN	13	100,573,841 (GRCm39)	nonsense	probably null
IGL03399:Naip1	APN	13	100,545,426 (GRCm39)	missense	probably damaging	1.00
FR4340:Naip1	UTSW	13	100,559,584 (GRCm39)	missense	probably benign
FR4342:Naip1	UTSW	13	100,561,979 (GRCm39)	missense	probably benign	0.00
R0051:Naip1	UTSW	13	100,547,509 (GRCm39)	missense	probably damaging	0.96
R0095:Naip1	UTSW	13	100,559,591 (GRCm39)	missense	probably benign	0.24
R0147:Naip1	UTSW	13	100,563,418 (GRCm39)	missense	possibly damaging	0.67
R0375:Naip1	UTSW	13	100,545,656 (GRCm39)	missense	probably benign	0.21
R0442:Naip1	UTSW	13	100,581,024 (GRCm39)	missense	probably benign	0.00
R0455:Naip1	UTSW	13	100,559,727 (GRCm39)	missense	probably benign	0.00
R0491:Naip1	UTSW	13	100,559,727 (GRCm39)	missense	probably benign	0.00
R0614:Naip1	UTSW	13	100,580,708 (GRCm39)	missense	probably benign	0.00
R0785:Naip1	UTSW	13	100,559,593 (GRCm39)	missense	probably benign	0.00
R0785:Naip1	UTSW	13	100,559,584 (GRCm39)	missense	probably benign
R0787:Naip1	UTSW	13	100,562,604 (GRCm39)	missense	probably benign	0.22
R1081:Naip1	UTSW	13	100,559,578 (GRCm39)	missense	probably benign	0.21
R1177:Naip1	UTSW	13	100,563,572 (GRCm39)	missense	possibly damaging	0.91
R1476:Naip1	UTSW	13	100,563,378 (GRCm39)	missense	probably benign	0.35
R1672:Naip1	UTSW	13	100,559,657 (GRCm39)	missense	probably benign	0.00
R1809:Naip1	UTSW	13	100,562,747 (GRCm39)	missense	probably benign
R2057:Naip1	UTSW	13	100,562,081 (GRCm39)	missense	probably damaging	0.96
R2182:Naip1	UTSW	13	100,550,188 (GRCm39)	missense	probably benign	0.01
R2395:Naip1	UTSW	13	100,559,614 (GRCm39)	missense	possibly damaging	0.83
R2518:Naip1	UTSW	13	100,559,727 (GRCm39)	missense	probably benign	0.00
R3033:Naip1	UTSW	13	100,568,966 (GRCm39)	missense	probably benign	0.01
R3122:Naip1	UTSW	13	100,545,503 (GRCm39)	missense	probably damaging	1.00
R3439:Naip1	UTSW	13	100,559,727 (GRCm39)	missense	probably benign	0.00
R4167:Naip1	UTSW	13	100,580,794 (GRCm39)	missense	probably benign	0.04
R4179:Naip1	UTSW	13	100,562,684 (GRCm39)	missense	probably damaging	0.99
R4212:Naip1	UTSW	13	100,563,383 (GRCm39)	splice site	probably null
R4639:Naip1	UTSW	13	100,580,791 (GRCm39)	missense	probably benign	0.31
R4674:Naip1	UTSW	13	100,580,682 (GRCm39)	missense	probably damaging	1.00
R4736:Naip1	UTSW	13	100,581,034 (GRCm39)	missense	possibly damaging	0.47
R4740:Naip1	UTSW	13	100,581,034 (GRCm39)	missense	possibly damaging	0.47
R4778:Naip1	UTSW	13	100,563,156 (GRCm39)	missense	probably damaging	1.00
R4806:Naip1	UTSW	13	100,562,129 (GRCm39)	missense	probably benign	0.00
R4855:Naip1	UTSW	13	100,559,728 (GRCm39)	splice site	probably null
R5740:Naip1	UTSW	13	100,569,009 (GRCm39)	critical splice acceptor site	probably null
R5797:Naip1	UTSW	13	100,581,034 (GRCm39)	missense	possibly damaging	0.47
R5806:Naip1	UTSW	13	100,581,243 (GRCm39)	start codon destroyed	probably null	1.00
R5895:Naip1	UTSW	13	100,559,636 (GRCm39)	missense	probably benign	0.00
R5896:Naip1	UTSW	13	100,559,636 (GRCm39)	missense	probably benign	0.00
R6023:Naip1	UTSW	13	100,562,694 (GRCm39)	missense	probably benign	0.00
R6109:Naip1	UTSW	13	100,563,690 (GRCm39)	missense	probably damaging	1.00
R6117:Naip1	UTSW	13	100,581,245 (GRCm39)	start codon destroyed	probably damaging	0.99
R6133:Naip1	UTSW	13	100,581,151 (GRCm39)	missense	probably benign	0.10
R6241:Naip1	UTSW	13	100,562,169 (GRCm39)	missense	probably damaging	0.99
R6335:Naip1	UTSW	13	100,563,060 (GRCm39)	missense	probably damaging	1.00
R6404:Naip1	UTSW	13	100,559,727 (GRCm39)	missense	probably benign	0.00
R6475:Naip1	UTSW	13	100,545,596 (GRCm39)	missense	probably damaging	1.00
R6508:Naip1	UTSW	13	100,572,973 (GRCm39)	missense	probably damaging	1.00
R6580:Naip1	UTSW	13	100,581,157 (GRCm39)	missense	probably damaging	0.99
R6600:Naip1	UTSW	13	100,559,666 (GRCm39)	missense	probably benign	0.00
R6600:Naip1	UTSW	13	100,559,578 (GRCm39)	missense	probably benign	0.21
R6603:Naip1	UTSW	13	100,559,666 (GRCm39)	missense	probably benign	0.00
R6603:Naip1	UTSW	13	100,559,578 (GRCm39)	missense	probably benign	0.21
R6633:Naip1	UTSW	13	100,559,593 (GRCm39)	missense	probably benign	0.00
R6633:Naip1	UTSW	13	100,559,584 (GRCm39)	missense	probably benign
R6720:Naip1	UTSW	13	100,559,585 (GRCm39)	missense	probably benign	0.00
R6805:Naip1	UTSW	13	100,563,849 (GRCm39)	missense	probably benign	0.04
R7043:Naip1	UTSW	13	100,563,422 (GRCm39)	missense	probably damaging	1.00
R7615:Naip1	UTSW	13	100,562,284 (GRCm39)	missense	probably benign	0.00
R7797:Naip1	UTSW	13	100,580,986 (GRCm39)	missense	probably damaging	1.00
R7820:Naip1	UTSW	13	100,559,578 (GRCm39)	missense	probably benign	0.21
R7842:Naip1	UTSW	13	100,563,506 (GRCm39)	missense	probably damaging	1.00
R8117:Naip1	UTSW	13	100,563,509 (GRCm39)	missense	possibly damaging	0.67
R8132:Naip1	UTSW	13	100,573,883 (GRCm39)	missense	possibly damaging	0.84
R8177:Naip1	UTSW	13	100,563,911 (GRCm39)	missense	probably benign	0.00
R8203:Naip1	UTSW	13	100,562,328 (GRCm39)	missense	probably benign	0.02
R8283:Naip1	UTSW	13	100,563,695 (GRCm39)	missense	probably damaging	1.00
R8319:Naip1	UTSW	13	100,565,721 (GRCm39)	missense	probably benign	0.13
R8377:Naip1	UTSW	13	100,562,374 (GRCm39)	missense	possibly damaging	0.53
R8864:Naip1	UTSW	13	100,562,828 (GRCm39)	missense	possibly damaging	0.55
R8871:Naip1	UTSW	13	100,580,146 (GRCm39)	missense	probably damaging	1.00
R8987:Naip1	UTSW	13	100,563,434 (GRCm39)	missense	probably damaging	1.00
R9079:Naip1	UTSW	13	100,559,727 (GRCm39)	missense	probably benign	0.00
R9275:Naip1	UTSW	13	100,562,684 (GRCm39)	missense	probably damaging	0.99
R9524:Naip1	UTSW	13	100,563,101 (GRCm39)	missense	probably benign	0.06
R9617:Naip1	UTSW	13	100,569,821 (GRCm39)	missense	probably benign	0.01
R9776:Naip1	UTSW	13	100,559,584 (GRCm39)	missense	probably benign
R9802:Naip1	UTSW	13	100,562,713 (GRCm39)	missense	probably benign
RF007:Naip1	UTSW	13	100,562,642 (GRCm39)	missense	probably benign	0.03
X0066:Naip1	UTSW	13	100,573,830 (GRCm39)	missense	probably damaging	1.00
Y4335:Naip1	UTSW	13	100,562,030 (GRCm39)	missense	probably benign	0.00
Y4336:Naip1	UTSW	13	100,562,030 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGACCTCAGGGATCGTCAG -3'
(R):5'- TTGTGTCAGACCCAGACCAG -3'

Sequencing Primer
(F):5'- CTTGCACAGGCTGGCTGATG -3'
(R):5'- ATGCAGCAAGCTGGTCTC -3'

Posted On

2022-04-18