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

Naip, Birc1a, D13Lsd1

MMRRC Submission

067895-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100544272-100589372 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 100573883 bp (GRCm39)

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: 124,691,757 (GRCm39)	A403T		Het
Abhd16b	G	A	2: 181,135,760 (GRCm39)	A221T	probably damaging	Het
Arhgef1	C	T	7: 24,607,087 (GRCm39)		probably benign	Het
Arhgef1	C	T	7: 24,619,174 (GRCm39)	Q472*	probably null	Het
Calr3	C	T	8: 73,181,023 (GRCm39)	G298S	probably damaging	Het
Chrng	A	G	1: 87,133,718 (GRCm39)	T15A	unknown	Het
CK137956	T	A	4: 127,845,075 (GRCm39)	K223*	probably null	Het
Clca3b	A	T	3: 144,552,935 (GRCm39)	S97T	probably benign	Het
Cops7b	G	T	1: 86,514,916 (GRCm39)	G102V	probably damaging	Het
Dennd1a	T	A	2: 37,748,072 (GRCm39)	S382C	probably damaging	Het
Fdps	G	A	3: 89,006,693 (GRCm39)	Q66*	probably null	Het
Gemin4	T	C	11: 76,103,739 (GRCm39)	T341A	probably benign	Het
Grk3	A	G	5: 113,109,355 (GRCm39)	S201P	unknown	Het
Hgf	C	T	5: 16,807,329 (GRCm39)	T407I	probably damaging	Het
Hip1r	C	T	5: 124,135,290 (GRCm39)	R446C	probably damaging	Het
Hyal6	A	T	6: 24,740,827 (GRCm39)	I327L	possibly damaging	Het
Ifna15	T	C	4: 88,475,920 (GRCm39)	E188G	possibly damaging	Het
Igip	A	G	18: 36,434,266 (GRCm39)	S11G	probably benign	Het
Igkv5-39	A	G	6: 69,877,589 (GRCm39)	Y56H	probably damaging	Het
Jph1	G	A	1: 17,086,379 (GRCm39)	T381I	probably damaging	Het
Lrrc55	T	C	2: 85,022,259 (GRCm39)	I311V	probably benign	Het
Mrps35	T	A	6: 146,949,661 (GRCm39)	D58E	probably benign	Het
Ms4a4d	C	A	19: 11,535,310 (GRCm39)	P203T	probably benign	Het
Ncapg2	T	A	12: 116,407,967 (GRCm39)	I989N	possibly damaging	Het
Nek3	A	T	8: 22,647,036 (GRCm39)	Y166*	probably null	Het
Nphs1	A	G	7: 30,181,478 (GRCm39)	E1169G	probably benign	Het
Nudt15	G	A	14: 73,759,099 (GRCm39)	P123L	probably benign	Het
Or10c1	T	A	17: 37,522,207 (GRCm39)	E179V	probably damaging	Het
Or10q1b	G	A	19: 13,682,584 (GRCm39)	C131Y	probably damaging	Het
Or5ac22	T	C	16: 59,134,907 (GRCm39)	I288V	possibly damaging	Het
Or6k14	T	A	1: 173,927,737 (GRCm39)	S238T	probably damaging	Het
Or8a1b	C	T	9: 37,623,369 (GRCm39)	V69M	probably benign	Het
Pcdha5	T	C	18: 37,093,694 (GRCm39)	S68P	possibly damaging	Het
Plec	G	T	15: 76,074,773 (GRCm39)	A330E	unknown	Het
Rpa3	A	C	6: 8,256,790 (GRCm39)	I63S	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Snap25	A	T	2: 136,611,748 (GRCm39)	K83N	probably benign	Het
Sos1	T	G	17: 80,716,031 (GRCm39)	Q977P	probably damaging	Het
Spag16	A	G	1: 70,420,461 (GRCm39)	Y483C	probably damaging	Het
Speg	A	G	1: 75,399,639 (GRCm39)	E2362G	probably damaging	Het
Swap70	A	G	7: 109,855,084 (GRCm39)	D128G	probably damaging	Het
Syngap1	G	A	17: 27,177,154 (GRCm39)	M545I	probably damaging	Het
Tdpoz6	G	A	3: 93,599,452 (GRCm39)	Q306*	probably null	Het
Tmem147	T	C	7: 30,427,872 (GRCm39)	E110G	probably damaging	Het
Tmem156	T	A	5: 65,233,098 (GRCm39)	I155F	probably benign	Het
Trim25	C	A	11: 88,907,432 (GRCm39)	A597E	probably damaging	Het
Ttc7b	T	C	12: 100,413,131 (GRCm39)	Y229C	probably damaging	Het
Utrn	T	A	10: 12,558,154 (GRCm39)	Q1435L	probably damaging	Het
Zbtb41	T	C	1: 139,350,955 (GRCm39)	S23P	probably benign	Het
Zeb2	T	A	2: 44,879,142 (GRCm39)	I1075F	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
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'- GGCGAAAGACACAGAATCCGTC -3'
(R):5'- TCCAGTCCTATCAGAACACTTG -3'

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

Posted On

2020-06-30