Mutagenetix > Incidental Mutation

Incidental Mutation 'R3862:Naif1'

276381

Institutional Source

Beutler Lab

Gene Symbol

Naif1

Ensembl Gene

ENSMUSG00000039164

Gene Name

nuclear apoptosis inducing factor 1

Synonyms

4933440H19Rik, 2310007O20Rik

MMRRC Submission

040903-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R3862 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32340469-32346965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32342637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 63 (R63G)

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 damaging
Transcript: ENSMUST00000048431
AA Change: R63G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048764
Gene: ENSMUSG00000039164
AA Change: R63G

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

0.6801

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc2	G	A	10: 80,143,393 (GRCm39)	G498R	possibly damaging	Het
Bltp1	T	A	3: 36,939,547 (GRCm39)	F134I	possibly damaging	Het
Bub1	A	G	2: 127,656,676 (GRCm39)		probably benign	Het
Cttnbp2	C	T	6: 18,434,905 (GRCm39)	V318M	probably benign	Het
D430041D05Rik	T	C	2: 104,044,522 (GRCm39)	I825M	possibly damaging	Het
Enpp6	A	G	8: 47,519,027 (GRCm39)	Q265R	probably benign	Het
Eri1	A	G	8: 35,958,448 (GRCm39)	V61A	possibly damaging	Het
Evi2	T	A	11: 79,406,472 (GRCm39)	I368F	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fkbp9	A	G	6: 56,845,890 (GRCm39)	T409A	probably benign	Het
Gtpbp4	A	G	13: 9,040,834 (GRCm39)	V97A	probably damaging	Het
Hapln1	C	T	13: 89,753,418 (GRCm39)	Q195*	probably null	Het
Helt	G	T	8: 46,745,315 (GRCm39)	N189K	probably benign	Het
Hint2	A	G	4: 43,654,771 (GRCm39)	V91A	probably damaging	Het
Ighv1-7	A	G	12: 114,502,266 (GRCm39)	I67T	probably damaging	Het
Kif26a	A	G	12: 112,146,323 (GRCm39)	E1803G	probably benign	Het
Lrrd1	G	A	5: 3,901,248 (GRCm39)	V518I	probably benign	Het
Marchf11	C	T	15: 26,387,952 (GRCm39)	A269V	probably damaging	Het
Mep1b	A	G	18: 21,217,226 (GRCm39)	N115S	possibly damaging	Het
Nsmaf	A	G	4: 6,435,064 (GRCm39)	I126T	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or52h7	G	A	7: 104,214,145 (GRCm39)	R239H	probably benign	Het
Or8g53	T	A	9: 39,683,920 (GRCm39)	M59L	probably benign	Het
Pcdhb3	A	G	18: 37,436,329 (GRCm39)	E765G	probably damaging	Het
Ppp4r4	C	T	12: 103,562,680 (GRCm39)	R550*	probably null	Het
Scgb2b3	C	T	7: 31,061,430 (GRCm39)		probably null	Het
Sgcz	T	C	8: 37,990,565 (GRCm39)	I263V	probably benign	Het
Slc15a1	C	T	14: 121,722,269 (GRCm39)	V211I	probably benign	Het
Slc25a21	G	T	12: 56,764,920 (GRCm39)		probably benign	Het
Snrnp200	C	A	2: 127,075,019 (GRCm39)		probably benign	Het
Spata31e5	T	C	1: 28,816,722 (GRCm39)	T437A	probably damaging	Het
Sptbn1	G	T	11: 30,092,329 (GRCm39)	Q479K	possibly damaging	Het
Stag1	T	A	9: 100,826,838 (GRCm39)	V935D	probably benign	Het
Veph1	C	T	3: 66,162,313 (GRCm39)	C115Y	probably damaging	Het
Zc3h12a	T	C	4: 125,020,732 (GRCm39)	D37G	probably benign	Het
Zfand4	A	T	6: 116,270,776 (GRCm39)		probably benign	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
R2885: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
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'- GGTACTTGGCCTTGAACAAGC -3'
(R):5'- AGCAGTACAGGAGCTATGGC -3'

Sequencing Primer
(F):5'- TTGAACAAGCCCTGCCTG -3'
(R):5'- CTGTGCCACTGCCACCAC -3'

Posted On

2015-04-06