Mutagenetix > Incidental Mutation

Incidental Mutation 'R2885:Naif1'

260995

Institutional Source

Beutler Lab

Gene Symbol

Naif1

Ensembl Gene

ENSMUSG00000039164

Gene Name

nuclear apoptosis inducing factor 1

Synonyms

4933440H19Rik, 2310007O20Rik

MMRRC Submission

040473-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R2885 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32340469-32346965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32344887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 197 (P197L)

Ref Sequence

ENSEMBL: ENSMUSP00000048764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028160] [ENSMUST00000048431] [ENSMUST00000113310]

AlphaFold

Q6PFD7

Predicted Effect

probably benign
Transcript: ENSMUST00000028160

SMART Domains

Protein: ENSMUSP00000028160
Gene: ENSMUSG00000026819

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
EFh	48	76	8.73e0	SMART
EFh	84	112	2.64e-1	SMART
EFh	115	143	1.36e0	SMART
Blast:EFh	151	191	1e-9	BLAST
Pfam:Mito_carr	227	320	1.7e-26	PFAM
Pfam:Mito_carr	321	413	6.4e-26	PFAM
Pfam:Mito_carr	418	512	9.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048431
AA Change: P197L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000048764
Gene: ENSMUSG00000039164
AA Change: P197L

Domain	Start	End	E-Value	Type
Pfam:Myb_DNA-bind_5	8	85	2e-26	PFAM
low complexity region	95	119	N/A	INTRINSIC
low complexity region	158	169	N/A	INTRINSIC
low complexity region	189	201	N/A	INTRINSIC
low complexity region	302	315	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113310

SMART Domains

Protein: ENSMUSP00000108936
Gene: ENSMUSG00000026819

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
EFh	48	76	8.73e0	SMART
EFh	84	112	2.64e-1	SMART
EFh	115	143	1.36e0	SMART
EFh	151	179	8.82e1	SMART
Pfam:Mito_carr	215	308	1.2e-26	PFAM
Pfam:Mito_carr	309	401	2.5e-27	PFAM
Pfam:Mito_carr	406	501	4.9e-21	PFAM

Meta Mutation Damage Score

0.1661

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	A	G	7: 80,749,940 (GRCm39)	S1453G	probably damaging	Het
Arhgap27	T	C	11: 103,251,669 (GRCm39)		probably null	Het
Casp1	A	T	9: 5,299,851 (GRCm39)	H108L	probably benign	Het
Cerk	A	G	15: 86,027,084 (GRCm39)	F142S	probably damaging	Het
Cmip	A	G	8: 118,111,704 (GRCm39)	N145S	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyp4b1	C	T	4: 115,492,849 (GRCm39)	D287N	probably damaging	Het
Dlx2	G	A	2: 71,375,808 (GRCm39)	R172*	probably null	Het
Dnah11	G	A	12: 117,951,162 (GRCm39)	Q1145*	probably null	Het
Dock2	A	T	11: 34,580,593 (GRCm39)	I659N	probably damaging	Het
Dync2h1	G	C	9: 7,102,329 (GRCm39)	F2690L	probably damaging	Het
Fcrl5	A	G	3: 87,364,698 (GRCm39)	Y566C	probably damaging	Het
Ift57	T	C	16: 49,584,114 (GRCm39)	V289A	probably damaging	Het
Lrrc46	G	A	11: 96,925,806 (GRCm39)	R219C	probably damaging	Het
Mapk1	A	G	16: 16,844,309 (GRCm39)	N269S	probably benign	Het
Mrgprb1	A	T	7: 48,097,469 (GRCm39)	Y148N	probably damaging	Het
Mzt2	G	T	16: 15,680,780 (GRCm39)	A3E	unknown	Het
Obscn	A	T	11: 58,977,574 (GRCm39)	V1959E	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Phf12	T	C	11: 77,914,595 (GRCm39)	I130T	possibly damaging	Het
Plekhg3	T	C	12: 76,611,735 (GRCm39)	V338A	probably benign	Het
Prl3b1	A	T	13: 27,433,505 (GRCm39)	N220I	probably damaging	Het
Rusc2	A	G	4: 43,415,456 (GRCm39)	Q254R	probably benign	Het
Ryr1	G	T	7: 28,774,223 (GRCm39)	R2404S	probably damaging	Het
Setdb1	A	G	3: 95,247,506 (GRCm39)	I463T	probably benign	Het
Setx	T	G	2: 29,038,637 (GRCm39)	C1707W	probably damaging	Het
Siglec1	A	G	2: 130,914,667 (GRCm39)	F1483S	possibly damaging	Het
Sis	G	A	3: 72,816,506 (GRCm39)	P1515S	probably benign	Het
Sit1	C	T	4: 43,483,314 (GRCm39)	R50H	possibly damaging	Het
Smc6	T	C	12: 11,326,294 (GRCm39)	V97A	probably damaging	Het
Ttc39d	A	G	17: 80,524,144 (GRCm39)	S268G	probably benign	Het
Ube2frt	A	G	12: 36,140,574 (GRCm39)		probably benign	Het
Utrn	A	T	10: 12,615,105 (GRCm39)		probably null	Het
Vmn2r60	T	A	7: 41,790,403 (GRCm39)	D463E	possibly damaging	Het
Vmn2r91	A	T	17: 18,325,628 (GRCm39)	Y82F	probably benign	Het
Zfp709	A	T	8: 72,643,549 (GRCm39)	D325V	probably benign	Het
Znrf3	A	T	11: 5,239,693 (GRCm39)	D58E	probably damaging	Het

Other mutations in Naif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02613:Naif1	APN	2	32,345,172 (GRCm39)	missense	possibly damaging	0.85
R0608:Naif1	UTSW	2	32,344,908 (GRCm39)	missense	probably benign	0.01
R1171:Naif1	UTSW	2	32,342,558 (GRCm39)	missense	probably damaging	0.99
R1762:Naif1	UTSW	2	32,344,902 (GRCm39)	missense	possibly damaging	0.46
R2884:Naif1	UTSW	2	32,344,887 (GRCm39)	missense	probably benign	0.03
R2886:Naif1	UTSW	2	32,344,887 (GRCm39)	missense	probably benign	0.03
R3862:Naif1	UTSW	2	32,342,637 (GRCm39)	missense	probably damaging	0.99
R6666:Naif1	UTSW	2	32,344,863 (GRCm39)	missense	probably damaging	1.00
R7418:Naif1	UTSW	2	32,342,583 (GRCm39)	missense	probably benign	0.30
R8711:Naif1	UTSW	2	32,344,848 (GRCm39)	missense	probably damaging	1.00
R9717:Naif1	UTSW	2	32,344,907 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTTATGTGAATACAGCCAGGGG -3'
(R):5'- ATCTGTAGCAGGCCATTCTG -3'

Sequencing Primer
(F):5'- GAGGCCAGAATTCCCTTTGC -3'
(R):5'- AGGCCATTCTGCTGCTCCAG -3'

Posted On

2015-01-23