Mutagenetix > Incidental Mutation

Incidental Mutation 'R8132:Naip1'

632085

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100407764-100452869 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 100437375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 225 (E225D)

Ref Sequence

ENSEMBL: ENSMUSP00000022142 (fasta)

Gene Model

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

AlphaFold

Q9QWK5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022142
AA Change: E225D

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022142
Gene: ENSMUSG00000021640
AA Change: E225D

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 damaging
Transcript: ENSMUST00000221727
AA Change: E225D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221943
AA Change: E225D

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222155
AA Change: E225D

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.2%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,965,018	A403T		Het
Abhd16b	G	A	2: 181,493,967	A221T	probably damaging	Het
Arhgef1	C	T	7: 24,907,662		probably benign	Het
Arhgef1	C	T	7: 24,919,749	Q472*	probably null	Het
Calr3	C	T	8: 72,427,179	G298S	probably damaging	Het
Chrng	A	G	1: 87,205,996	T15A	unknown	Het
CK137956	T	A	4: 127,951,282	K223*	probably null	Het
Clca3b	A	T	3: 144,847,174	S97T	probably benign	Het
Cops7b	G	T	1: 86,587,194	G102V	probably damaging	Het
Dennd1a	T	A	2: 37,858,060	S382C	probably damaging	Het
Fdps	G	A	3: 89,099,386	Q66*	probably null	Het
Gemin4	T	C	11: 76,212,913	T341A	probably benign	Het
Gm37596	G	A	3: 93,692,145	Q306*	probably null	Het
Grk3	A	G	5: 112,961,489	S201P	unknown	Het
Hgf	C	T	5: 16,602,331	T407I	probably damaging	Het
Hip1r	C	T	5: 123,997,227	R446C	probably damaging	Het
Hyal6	A	T	6: 24,740,828	I327L	possibly damaging	Het
Ifna15	T	C	4: 88,557,683	E188G	possibly damaging	Het
Igip	A	G	18: 36,301,213	S11G	probably benign	Het
Igkv5-39	A	G	6: 69,900,605	Y56H	probably damaging	Het
Jph1	G	A	1: 17,016,155	T381I	probably damaging	Het
Lrrc55	T	C	2: 85,191,915	I311V	probably benign	Het
Mrps35	T	A	6: 147,048,163	D58E	probably benign	Het
Ms4a4d	C	A	19: 11,557,946	P203T	probably benign	Het
Ncapg2	T	A	12: 116,444,347	I989N	possibly damaging	Het
Nek3	A	T	8: 22,157,020	Y166*	probably null	Het
Nphs1	A	G	7: 30,482,053	E1169G	probably benign	Het
Nudt15	G	A	14: 73,521,659	P123L	probably benign	Het
Olfr1491	G	A	19: 13,705,220	C131Y	probably damaging	Het
Olfr160	C	T	9: 37,712,073	V69M	probably benign	Het
Olfr204	T	C	16: 59,314,544	I288V	possibly damaging	Het
Olfr427	T	A	1: 174,100,171	S238T	probably damaging	Het
Olfr95	T	A	17: 37,211,316	E179V	probably damaging	Het
Pcdha5	T	C	18: 36,960,641	S68P	possibly damaging	Het
Plec	G	T	15: 76,190,573	A330E	unknown	Het
Rpa3	A	C	6: 8,256,790	I63S	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908		probably benign	Het
Snap25	A	T	2: 136,769,828	K83N	probably benign	Het
Sos1	T	G	17: 80,408,602	Q977P	probably damaging	Het
Spag16	A	G	1: 70,381,302	Y483C	probably damaging	Het
Speg	A	G	1: 75,422,995	E2362G	probably damaging	Het
Swap70	A	G	7: 110,255,877	D128G	probably damaging	Het
Syngap1	G	A	17: 26,958,180	M545I	probably damaging	Het
Tmem147	T	C	7: 30,728,447	E110G	probably damaging	Het
Tmem156	T	A	5: 65,075,755	I155F	probably benign	Het
Trim25	C	A	11: 89,016,606	A597E	probably damaging	Het
Ttc7b	T	C	12: 100,446,872	Y229C	probably damaging	Het
Utrn	T	A	10: 12,682,410	Q1435L	probably damaging	Het
Zbtb41	T	C	1: 139,423,217	S23P	probably benign	Het
Zeb2	T	A	2: 44,989,130	I1075F	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	100423070	missense	probably benign	0.21
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
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'- GGCGAAAGACACAGAATCCGTC -3'
(R):5'- TCCAGTCCTATCAGAACACTTG -3'

Sequencing Primer
(F):5'- GACACAGAATCCGTCAGAAAAC -3'
(R):5'- TTGGAGAAATCGATCGTCCC -3'

Posted On

2020-06-30