Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Naip1'

533552

Institutional Source

Beutler Lab

Gene Symbol

Naip1

Ensembl Gene

ENSMUSG00000021640

Gene Name

NLR family, apoptosis inhibitory protein 1

Synonyms

Naip, Birc1a, D13Lsd1

MMRRC Submission

044918-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6805 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100544272-100589372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100563849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 439 (S439P)

Ref Sequence

ENSEMBL: ENSMUSP00000152583 (fasta)

Gene Model

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

AlphaFold

Q9QWK5

Predicted Effect

probably benign
Transcript: ENSMUST00000022142
AA Change: S439P

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: S439P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221943

Predicted Effect

probably benign
Transcript: ENSMUST00000222155
AA Change: S439P

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,946,744 (GRCm39)	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,415,810 (GRCm39)		probably benign	Het
Aadac	A	C	3: 59,944,757 (GRCm39)	D143A	probably benign	Het
Acot10	T	G	15: 20,665,452 (GRCm39)	T430P	probably benign	Het
Adgrb3	T	C	1: 25,865,253 (GRCm39)	T197A	possibly damaging	Het
Bbs1	A	G	19: 4,950,643 (GRCm39)	I200T	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103 (GRCm38)	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,838,673 (GRCm39)	E48G	probably damaging	Het
Clca3a1	A	T	3: 144,724,428 (GRCm39)	C211S	probably damaging	Het
Col18a1	A	G	10: 76,890,073 (GRCm39)	L1429P	probably damaging	Het
Cplane1	T	C	15: 8,273,790 (GRCm39)	V2591A	probably benign	Het
Cul2	T	G	18: 3,421,263 (GRCm39)	Y196D	probably damaging	Het
D630023F18Rik	T	C	1: 65,156,365 (GRCm39)	S43G	probably benign	Het
Ddx39a	G	A	8: 84,449,766 (GRCm39)	R427Q	probably damaging	Het
Def6	A	G	17: 28,442,691 (GRCm39)	T285A	probably damaging	Het
Defb21	T	A	2: 152,416,789 (GRCm39)	D88E	probably benign	Het
Defb6	A	G	8: 19,278,117 (GRCm39)	K63R	probably benign	Het
Dnph1	T	C	17: 46,809,670 (GRCm39)	S112P	probably damaging	Het
Dock10	T	A	1: 80,564,407 (GRCm39)	I467L	probably benign	Het
Dspp	C	A	5: 104,323,716 (GRCm39)	H286Q	probably benign	Het
Eya1	T	A	1: 14,253,501 (GRCm39)	T459S	probably benign	Het
Faf1	T	C	4: 109,719,049 (GRCm39)	L385P	probably damaging	Het
Fbxw21	C	A	9: 108,986,633 (GRCm39)	R82L	probably damaging	Het
Fryl	A	G	5: 73,222,437 (GRCm39)	V2048A	probably benign	Het
Galnt5	A	T	2: 57,925,311 (GRCm39)	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460 (GRCm39)	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,250,946 (GRCm39)	R434L	probably damaging	Het
Gga3	A	G	11: 115,476,588 (GRCm39)	F709L	probably damaging	Het
Hcar1	A	G	5: 124,017,193 (GRCm39)	V166A	probably benign	Het
Hexa	T	A	9: 59,471,220 (GRCm39)	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,282,760 (GRCm39)	C164*	probably null	Het
Ifi202b	T	C	1: 173,802,555 (GRCm39)	Y93C	probably damaging	Het
Iftap	T	C	2: 101,396,804 (GRCm39)	K192E	probably benign	Het
Iscu	T	A	5: 113,913,304 (GRCm39)	I79N	probably damaging	Het
Jmjd7	T	A	2: 119,861,804 (GRCm39)	Y182*	probably null	Het
Jup	A	T	11: 100,274,284 (GRCm39)	D135E	probably benign	Het
Kit	T	A	5: 75,813,468 (GRCm39)	I881N	probably damaging	Het
Llgl1	T	A	11: 60,593,691 (GRCm39)	S55T	probably benign	Het
Lonp2	G	A	8: 87,435,724 (GRCm39)	M653I	probably benign	Het
Lrp8	T	C	4: 107,711,517 (GRCm39)	Y307H	probably damaging	Het
Med13	A	T	11: 86,169,622 (GRCm39)	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,230,537 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,311,292 (GRCm39)	R476G	probably damaging	Het
Or10ag59	T	A	2: 87,405,262 (GRCm39)		probably null	Het
Or7g20	G	T	9: 18,946,597 (GRCm39)	M59I	probably damaging	Het
Pds5b	T	A	5: 150,729,026 (GRCm39)		probably null	Het
Phf12	G	A	11: 77,918,199 (GRCm39)	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,414,074 (GRCm39)	T234A		Het
Prune2	A	T	19: 17,097,954 (GRCm39)	I1153L	probably benign	Het
Ptprc	C	T	1: 137,995,623 (GRCm39)		probably null	Het
Qpctl	T	C	7: 18,883,079 (GRCm39)	Q11R	probably benign	Het
Rfx4	A	G	10: 84,676,092 (GRCm39)	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,442,806 (GRCm39)		probably null	Het
St6galnac1	G	T	11: 116,659,770 (GRCm39)	A181D	probably damaging	Het
Stk36	T	C	1: 74,661,398 (GRCm39)	V475A	probably benign	Het
Tbc1d21	T	C	9: 58,268,571 (GRCm39)	T263A	possibly damaging	Het
Tex24	A	T	8: 27,835,028 (GRCm39)	K185N	probably damaging	Het
Tnxb	T	A	17: 34,917,127 (GRCm39)	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,444,582 (GRCm39)	S57P	probably benign	Het
Zbtb49	A	G	5: 38,370,585 (GRCm39)		probably benign	Het
Zfp758	A	G	17: 22,580,650 (GRCm39)	T30A	probably benign	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
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
R9354:Naip1	UTSW	13	100,563,994 (GRCm39)	missense	probably benign	0.31
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'- GTACAACAAGGGGCAGCATC -3'
(R):5'- GGAGAGTCCTAAATACCCTTAGCAG -3'

Sequencing Primer
(F):5'- CAAGGGGCAGCATCCTGATG -3'
(R):5'- GCTATCAGAGAGATTTGAAGTGTATC -3'

Posted On

2018-09-12