Mutagenetix > Incidental Mutation

Incidental Mutation 'R6666:Naif1'

526958

Institutional Source

Beutler Lab

Gene Symbol

Naif1

Ensembl Gene

ENSMUSG00000039164

Gene Name

nuclear apoptosis inducing factor 1

Synonyms

4933440H19Rik, 2310007O20Rik

MMRRC Submission

044786-MU

Accession Numbers

Essential gene?

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

Stock #

R6666 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32340469-32346965 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32344863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 189 (T189K)

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: T189K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048764
Gene: ENSMUSG00000039164
AA Change: T189K

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	C	A	10: 21,469,228 (GRCm39)		probably null	Het
Arhgap24	A	G	5: 102,700,163 (GRCm39)		probably null	Het
Atp12a	G	T	14: 56,610,821 (GRCm39)	V322L	probably benign	Het
Capza1	A	C	3: 104,735,922 (GRCm39)		probably null	Het
Cela3a	A	T	4: 137,131,175 (GRCm39)	S188T	probably benign	Het
Cplx1	G	T	5: 108,668,031 (GRCm39)	Y123*	probably null	Het
Ddias	A	T	7: 92,507,289 (GRCm39)	D875E	probably benign	Het
Dnah3	T	C	7: 119,670,172 (GRCm39)	E715G	probably benign	Het
Fam83e	A	G	7: 45,376,426 (GRCm39)	T380A	probably benign	Het
Fancd2	T	C	6: 113,562,470 (GRCm39)	V1270A	probably damaging	Het
Foxh1	A	G	15: 76,552,613 (GRCm39)	F367S	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gprc5a	A	G	6: 135,056,473 (GRCm39)	I307V	probably benign	Het
Gtpbp3	A	G	8: 71,943,582 (GRCm39)	D212G	possibly damaging	Het
Helb	A	G	10: 119,920,856 (GRCm39)	V1029A	probably damaging	Het
Il22ra1	A	T	4: 135,477,772 (GRCm39)	H281L	probably damaging	Het
Il2rb	TAGTCA	TAGTCAGTCA	15: 78,366,034 (GRCm39)		probably null	Het
Itga3	T	C	11: 94,956,652 (GRCm39)	T170A	probably benign	Het
Kdm3a	T	C	6: 71,588,974 (GRCm39)	E345G	probably benign	Het
Kif11	T	C	19: 37,398,214 (GRCm39)	I680T	probably benign	Het
Klhl28	C	T	12: 64,990,301 (GRCm39)	D547N	probably benign	Het
Limk2	T	A	11: 3,310,493 (GRCm39)	E49D	probably damaging	Het
Lmbrd2	T	A	15: 9,151,656 (GRCm39)	F120I	probably benign	Het
Mefv	T	A	16: 3,525,862 (GRCm39)	N802Y	possibly damaging	Het
Ms4a2	C	T	19: 11,595,787 (GRCm39)	S168N	probably benign	Het
Myct1	T	C	10: 5,554,333 (GRCm39)	S67P	probably damaging	Het
Myh4	A	G	11: 67,142,638 (GRCm39)	E933G	probably damaging	Het
Nppb	A	G	4: 148,070,463 (GRCm39)	I11V	probably benign	Het
Nr3c1	T	C	18: 39,620,200 (GRCm39)	D29G	probably damaging	Het
Nrcam	A	G	12: 44,618,338 (GRCm39)	Y782C	probably damaging	Het
Or1af1	A	T	2: 37,110,331 (GRCm39)	I277F	probably damaging	Het
Or51e1	T	C	7: 102,359,135 (GRCm39)		probably null	Het
Or9m1	T	A	2: 87,733,852 (GRCm39)	H56L	probably damaging	Het
Parp1	A	G	1: 180,413,516 (GRCm39)	T375A	probably benign	Het
Pcdhgb1	G	T	18: 37,814,546 (GRCm39)	E346*	probably null	Het
Pds5b	G	T	5: 150,701,631 (GRCm39)	S754I	probably damaging	Het
Scnn1g	G	A	7: 121,366,611 (GRCm39)	D603N	probably benign	Het
Slitrk5	A	G	14: 111,917,534 (GRCm39)	D386G	probably damaging	Het
Trmt1	T	C	8: 85,425,083 (GRCm39)	L493P	probably damaging	Het
Vrk1	A	G	12: 106,024,910 (GRCm39)	E262G	probably damaging	Het
Wfs1	T	C	5: 37,124,963 (GRCm39)	T567A	possibly damaging	Het
Zbtb11	A	T	16: 55,826,615 (GRCm39)	K846I	probably damaging	Het
Zfp318	A	G	17: 46,720,140 (GRCm39)	T1113A	probably benign	Het
Zfp654	A	T	16: 64,606,596 (GRCm39)	S535R	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
R3862:Naif1	UTSW	2	32,342,637 (GRCm39)	missense	probably damaging	0.99
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'- TTTATGTGAATACAGCCAGGGGAG -3'
(R):5'- CATCTGTAGCAGGCCATTCTG -3'

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

Posted On

2018-07-23