Mutagenetix > Incidental Mutation

Incidental Mutation 'R6603:Naip1'

525484

Institutional Source

Beutler Lab

Gene Symbol

Naip1

Ensembl Gene

ENSMUSG00000021640

Gene Name

NLR family, apoptosis inhibitory protein 1

Synonyms

Birc1a, D13Lsd1, Naip

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6603 (G1)

Quality Score

206.009

Status

Not validated

Chromosome

Chromosomal Location

100407764-100452869 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100423070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 1142 (S1142F)

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: S1142F

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: S1142F

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: S1142F

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 24,665,502	F167Y	possibly damaging	Het
Ap3d1	A	G	10: 80,714,047	S755P	probably benign	Het
Aph1a	A	T	3: 95,895,496	N136I	probably damaging	Het
AU040320	T	A	4: 126,792,253	N207K	probably benign	Het
Caprin1	A	T	2: 103,775,511	D377E	probably benign	Het
Col18a1	A	G	10: 77,063,977		probably null	Het
Ddi2	T	C	4: 141,683,870	N577S	probably damaging	Het
Dip2c	T	A	13: 9,654,588		probably null	Het
Dmbt1	A	T	7: 131,046,510		probably null	Het
Fam13a	T	C	6: 58,987,189	K86R	probably benign	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Fam208a	A	G	14: 27,446,386	Y295C	probably damaging	Het
Fam71e2	G	A	7: 4,758,432	P427L	possibly damaging	Het
Fbxl8	A	T	8: 105,268,210	D118V	probably damaging	Het
Git2	C	A	5: 114,730,991		probably null	Het
Gm17190	T	G	13: 96,082,262	D35E	possibly damaging	Het
Gnb4	C	T	3: 32,585,146	D333N	probably damaging	Het
Has2	T	A	15: 56,668,572	D249V	probably damaging	Het
Ighv1-23	A	G	12: 114,764,521	S94P	probably damaging	Het
Itpr2	A	G	6: 146,347,171	I1029T	probably damaging	Het
Kctd16	T	C	18: 40,258,491	I44T	probably benign	Het
Kpna1	A	G	16: 36,029,520		probably null	Het
Lonrf1	T	A	8: 36,222,941	R654S	probably damaging	Het
Lrrc49	A	C	9: 60,593,769		probably null	Het
Miip	T	G	4: 147,865,923	K72T	possibly damaging	Het
Mink1	C	T	11: 70,609,593	P782S	probably damaging	Het
Mpped2	A	G	2: 106,866,977	T266A	probably benign	Het
Nbr1	A	G	11: 101,556,105		probably benign	Het
Necab3	A	T	2: 154,554,922	N46K	probably damaging	Het
Olfr570	A	T	7: 102,900,414	I16F	probably benign	Het
Phtf1	C	T	3: 103,993,873	R360C	probably damaging	Het
Plcl2	A	G	17: 50,607,117	I385V	probably benign	Het
Prmt8	A	T	6: 127,729,413	F138L	probably benign	Het
Prpf40a	T	G	2: 53,152,963	R436S	probably damaging	Het
Rab27b	T	A	18: 69,985,304	I181F	probably damaging	Het
Rasgrf1	A	G	9: 89,910,257	E87G	probably damaging	Het
Scrib	T	A	15: 76,062,723	T674S	probably benign	Het
Slc9a4	A	G	1: 40,623,504	S644G	probably benign	Het
Slc9a9	G	A	9: 94,939,546	A329T	probably damaging	Het
Smc4	T	C	3: 69,022,461		probably null	Het
Sox7	T	A	14: 63,948,188	H224Q	probably benign	Het
Spata31	T	C	13: 64,922,665	S876P	probably damaging	Het
Syndig1	G	A	2: 150,003,288	V244M	probably damaging	Het
Tas2r113	A	T	6: 132,893,458	I150L	probably benign	Het
Tmem59l	G	A	8: 70,486,356	P56L	probably benign	Het
Tnfrsf8	A	T	4: 145,292,598	D222E	possibly damaging	Het
Trim52	T	C	14: 106,107,049	L47P	probably damaging	Het
Ttc34	T	A	4: 154,839,305	I157K	probably benign	Het
Txndc16	A	G	14: 45,151,767	F492S	probably damaging	Het
Ubr4	A	G	4: 139,455,586	I428V	probably benign	Het
Vmn2r41	T	A	7: 8,138,360	I702F	probably damaging	Het
Wdr12	T	A	1: 60,082,624	H256L	probably damaging	Het
Xirp2	A	G	2: 67,516,544	H3043R	probably benign	Het
Xrcc1	C	T	7: 24,571,034	Q500*	probably null	Het
Zfp583	T	C	7: 6,325,476	N38S	probably damaging	Het

Other mutations in Naip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01115:Naip1	APN	13	100443720	critical splice acceptor site	probably null
IGL01145:Naip1	APN	13	100409121	missense	probably benign	0.00
IGL01356:Naip1	APN	13	100423214	missense	probably damaging	0.99
IGL01414:Naip1	APN	13	100409173	critical splice acceptor site	probably null
IGL01505:Naip1	APN	13	100425933	missense	probably damaging	1.00
IGL01573:Naip1	APN	13	100427382	missense	probably benign	0.03
IGL01931:Naip1	APN	13	100409032	nonsense	probably null
IGL02043:Naip1	APN	13	100426796	missense	probably benign	0.03
IGL02097:Naip1	APN	13	100425588	missense	probably benign	0.03
IGL02331:Naip1	APN	13	100426796	missense	probably benign	0.03
IGL02627:Naip1	APN	13	100425648	missense	possibly damaging	0.68
IGL02675:Naip1	APN	13	100409118	missense	probably benign
IGL02801:Naip1	APN	13	100444368	missense	probably damaging	1.00
IGL02851:Naip1	APN	13	100433262	missense	probably damaging	1.00
IGL03038:Naip1	APN	13	100437333	nonsense	probably null
IGL03399:Naip1	APN	13	100408918	missense	probably damaging	1.00
FR4340:Naip1	UTSW	13	100423076	missense	probably benign
FR4342:Naip1	UTSW	13	100425471	missense	probably benign	0.00
R0051:Naip1	UTSW	13	100411001	missense	probably damaging	0.96
R0095:Naip1	UTSW	13	100423083	missense	probably benign	0.24
R0147:Naip1	UTSW	13	100426910	missense	possibly damaging	0.67
R0375:Naip1	UTSW	13	100409148	missense	probably benign	0.21
R0442:Naip1	UTSW	13	100444516	missense	probably benign	0.00
R0455:Naip1	UTSW	13	100423219	missense	probably benign	0.00
R0491:Naip1	UTSW	13	100423219	missense	probably benign	0.00
R0614:Naip1	UTSW	13	100444200	missense	probably benign	0.00
R0785:Naip1	UTSW	13	100423076	missense	probably benign
R0785:Naip1	UTSW	13	100423085	missense	probably benign	0.00
R0787:Naip1	UTSW	13	100426096	missense	probably benign	0.22
R1081:Naip1	UTSW	13	100423070	missense	probably benign	0.21
R1177:Naip1	UTSW	13	100427064	missense	possibly damaging	0.91
R1476:Naip1	UTSW	13	100426870	missense	probably benign	0.35
R1672:Naip1	UTSW	13	100423149	missense	probably benign	0.00
R1809:Naip1	UTSW	13	100426239	missense	probably benign
R2057:Naip1	UTSW	13	100425573	missense	probably damaging	0.96
R2182:Naip1	UTSW	13	100413680	missense	probably benign	0.01
R2395:Naip1	UTSW	13	100423106	missense	possibly damaging	0.83
R2518:Naip1	UTSW	13	100423219	missense	probably benign	0.00
R3033:Naip1	UTSW	13	100432458	missense	probably benign	0.01
R3122:Naip1	UTSW	13	100408995	missense	probably damaging	1.00
R3439:Naip1	UTSW	13	100423219	missense	probably benign	0.00
R4167:Naip1	UTSW	13	100444286	missense	probably benign	0.04
R4179:Naip1	UTSW	13	100426176	missense	probably damaging	0.99
R4212:Naip1	UTSW	13	100426875	splice site	probably null
R4639:Naip1	UTSW	13	100444283	missense	probably benign	0.31
R4674:Naip1	UTSW	13	100444174	missense	probably damaging	1.00
R4736:Naip1	UTSW	13	100444526	missense	possibly damaging	0.47
R4740:Naip1	UTSW	13	100444526	missense	possibly damaging	0.47
R4778:Naip1	UTSW	13	100426648	missense	probably damaging	1.00
R4806:Naip1	UTSW	13	100425621	missense	probably benign	0.00
R4855:Naip1	UTSW	13	100423220	splice site	probably null
R5740:Naip1	UTSW	13	100432501	critical splice acceptor site	probably null
R5797:Naip1	UTSW	13	100444526	missense	possibly damaging	0.47
R5806:Naip1	UTSW	13	100444735	start codon destroyed	probably null	1.00
R5895:Naip1	UTSW	13	100423128	missense	probably benign	0.00
R5896:Naip1	UTSW	13	100423128	missense	probably benign	0.00
R6023:Naip1	UTSW	13	100426186	missense	probably benign	0.00
R6109:Naip1	UTSW	13	100427182	missense	probably damaging	1.00
R6117:Naip1	UTSW	13	100444737	start codon destroyed	probably damaging	0.99
R6133:Naip1	UTSW	13	100444643	missense	probably benign	0.10
R6241:Naip1	UTSW	13	100425661	missense	probably damaging	0.99
R6335:Naip1	UTSW	13	100426552	missense	probably damaging	1.00
R6404:Naip1	UTSW	13	100423219	missense	probably benign	0.00
R6475:Naip1	UTSW	13	100409088	missense	probably damaging	1.00
R6508:Naip1	UTSW	13	100436465	missense	probably damaging	1.00
R6580:Naip1	UTSW	13	100444649	missense	probably damaging	0.99
R6600:Naip1	UTSW	13	100423070	missense	probably benign	0.21
R6600:Naip1	UTSW	13	100423158	missense	probably benign	0.00
R6603:Naip1	UTSW	13	100423158	missense	probably benign	0.00
R6633:Naip1	UTSW	13	100423076	missense	probably benign
R6633:Naip1	UTSW	13	100423085	missense	probably benign	0.00
R6720:Naip1	UTSW	13	100423077	missense	probably benign	0.00
R6805:Naip1	UTSW	13	100427341	missense	probably benign	0.04
R7043:Naip1	UTSW	13	100426914	missense	probably damaging	1.00
R7615:Naip1	UTSW	13	100425776	missense	probably benign	0.00
R7797:Naip1	UTSW	13	100444478	missense	probably damaging	1.00
R7820:Naip1	UTSW	13	100423070	missense	probably benign	0.21
R7842:Naip1	UTSW	13	100426998	missense	probably damaging	1.00
R8117:Naip1	UTSW	13	100427001	missense	possibly damaging	0.67
R8132:Naip1	UTSW	13	100437375	missense	possibly damaging	0.84
R8177:Naip1	UTSW	13	100427403	missense	probably benign	0.00
R8203:Naip1	UTSW	13	100425820	missense	probably benign	0.02
R8283:Naip1	UTSW	13	100427187	missense	probably damaging	1.00
R8319:Naip1	UTSW	13	100429213	missense	probably benign	0.13
R8377:Naip1	UTSW	13	100425866	missense	possibly damaging	0.53
R8864:Naip1	UTSW	13	100426320	missense	possibly damaging	0.55
R8871:Naip1	UTSW	13	100443638	missense	probably damaging	1.00
R8987:Naip1	UTSW	13	100426926	missense	probably damaging	1.00
R9079:Naip1	UTSW	13	100423219	missense	probably benign	0.00
R9275:Naip1	UTSW	13	100426176	missense	probably damaging	0.99
R9354:Naip1	UTSW	13	100427486	missense	probably benign	0.31
R9524:Naip1	UTSW	13	100426593	missense	probably benign	0.06
R9617:Naip1	UTSW	13	100433313	missense	probably benign	0.01
R9776:Naip1	UTSW	13	100423076	missense	probably benign
R9802:Naip1	UTSW	13	100426205	missense	probably benign
RF007:Naip1	UTSW	13	100426134	missense	probably benign	0.03
X0066:Naip1	UTSW	13	100437322	missense	probably damaging	1.00
Y4335:Naip1	UTSW	13	100425522	missense	probably benign	0.00
Y4336:Naip1	UTSW	13	100425522	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGATGAATAAGAACACTGATCCCAC -3'
(R):5'- TGGCTGAAGCACCTTGAGAAC -3'

Sequencing Primer
(F):5'- TGATCCCACCCCATCCCAG -3'
(R):5'- GAAGCACCTTGAGAACTTGCACTTG -3'

Posted On

2018-06-22