Mutagenetix > Incidental Mutations

Incidental Mutation 'R1485:Nkain3'

163380

Institutional Source

Beutler Lab

Gene Symbol

Nkain3

Ensembl Gene

ENSMUSG00000055761

Gene Name

Na+/K+ transporting ATPase interacting 3

Synonyms

MMRRC Submission

039538-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R1485 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20118874-20778866 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20484932 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 48 (I48M)

Ref Sequence

ENSEMBL: ENSMUSP00000113113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102998] [ENSMUST00000119374]

Predicted Effect

probably damaging
Transcript: ENSMUST00000102998
AA Change: I48M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100063
Gene: ENSMUSG00000055761
AA Change: I48M

Domain	Start	End	E-Value	Type
Pfam:NKAIN	1	162	1e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119374
AA Change: I48M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113113
Gene: ENSMUSG00000055761
AA Change: I48M

Domain	Start	End	E-Value	Type
Pfam:NKAIN	1	180	7e-83	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NKAIN3 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,285,580	Y1836C	probably damaging	Het
4930402H24Rik	A	G	2: 130,748,683		probably null	Het
4931408C20Rik	T	G	1: 26,685,880	K73T	possibly damaging	Het
Adgrv1	A	G	13: 81,579,619	S301P	probably damaging	Het
AI987944	C	A	7: 41,374,530	G342*	probably null	Het
Alox5	A	T	6: 116,424,164	F212I	probably damaging	Het
Apaf1	A	T	10: 91,060,243	D322E	probably benign	Het
Aste1	T	A	9: 105,397,810	Y355*	probably null	Het
Bloc1s6	T	G	2: 122,746,143		probably null	Het
Ccdc77	G	A	6: 120,338,140	Q183*	probably null	Het
Ccdc92	T	C	5: 124,836,271	T65A	probably benign	Het
Chrna2	C	T	14: 66,143,363	A27V	probably benign	Het
Coch	G	T	12: 51,598,289	V209F	probably damaging	Het
Cops3	G	A	11: 59,827,889	T193M	possibly damaging	Het
Cped1	T	C	6: 22,132,388		probably null	Het
D6Ertd527e	A	T	6: 87,111,085	S77C	unknown	Het
Defb7	A	G	8: 19,495,094		probably null	Het
Entpd6	T	A	2: 150,768,923		probably null	Het
Evc2	C	T	5: 37,370,556	A303V	probably benign	Het
Fhod1	T	C	8: 105,336,798		probably null	Het
Gatsl2	T	A	5: 134,137,133	L240Q	probably damaging	Het
Gcn1l1	T	A	5: 115,574,617	F54I	probably benign	Het
Gm6768	A	G	12: 119,261,050		noncoding transcript	Het
Gm7104	C	A	12: 88,285,563		noncoding transcript	Het
Grid1	A	T	14: 34,822,583	D37V	probably damaging	Het
Icam5	G	A	9: 21,036,406	A560T	probably benign	Het
Igf2r	A	C	17: 12,691,285	I2019S	probably damaging	Het
Kcnj9	A	G	1: 172,326,362	V65A	probably benign	Het
Kif3b	T	C	2: 153,322,931		probably null	Het
Kmt2a	T	G	9: 44,826,928		probably benign	Het
March6	T	A	15: 31,498,693	T153S	probably damaging	Het
Mcam	T	A	9: 44,136,763	I72N	probably damaging	Het
Nop58	T	A	1: 59,698,345	I107N	probably damaging	Het
Notch2	A	G	3: 98,100,257	H441R	probably benign	Het
Nr1d1	G	A	11: 98,770,361	R360C	probably benign	Het
Olfr683	A	G	7: 105,143,681	I210T	probably benign	Het
Pclo	T	C	5: 14,713,779	S4089P	unknown	Het
Pi4kb	A	G	3: 94,994,387	E455G	probably damaging	Het
Piezo1	T	C	8: 122,482,049	Y2525C	probably damaging	Het
Pik3c2a	A	G	7: 116,417,673	V283A	possibly damaging	Het
Pramef8	G	A	4: 143,417,618	R178Q	probably benign	Het
Rabgap1l	A	T	1: 160,733,680	V161E	probably benign	Het
Rasa2	A	G	9: 96,544,348	I815T	probably benign	Het
Rev1	A	T	1: 38,088,572	D202E	probably benign	Het
Sept14	C	T	5: 129,693,054	A193T	probably damaging	Het
Sh3tc1	T	C	5: 35,719,026	S112G	probably benign	Het
Siah3	T	A	14: 75,525,554	Y82N	probably benign	Het
Slc2a7	T	C	4: 150,166,396	S425P	probably damaging	Het
Slc9a2	C	T	1: 40,726,388	L313F	probably damaging	Het
Smdt1	T	C	15: 82,346,232	V50A	probably benign	Het
Supt3	G	A	17: 45,036,720	A197T	probably benign	Het
Tex10	A	G	4: 48,436,492	I742T	possibly damaging	Het
Tex44	T	A	1: 86,427,918	H516Q	possibly damaging	Het
Tfdp1	T	G	8: 13,370,917	D171E	probably damaging	Het
Trim31	A	C	17: 36,898,676	D108A	probably damaging	Het
Ubr1	T	C	2: 120,961,098	N135S	probably benign	Het
Uso1	G	A	5: 92,180,563	V340I	possibly damaging	Het
Utp6	A	C	11: 79,948,923	V313G	probably damaging	Het
Vmn2r107	T	C	17: 20,374,847	V554A	possibly damaging	Het
Xdh	C	A	17: 73,914,019	E572*	probably null	Het
Zbtb7c	T	C	18: 76,136,990	S50P	probably damaging	Het
Zfp672	A	G	11: 58,329,569		probably benign	Het
Zzef1	A	G	11: 72,900,809		probably null	Het

Other mutations in Nkain3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02610:Nkain3	APN	4	20469459	missense	probably damaging	1.00
I1329:Nkain3	UTSW	4	20158329	splice site	probably benign
IGL03055:Nkain3	UTSW	4	20778308	missense	probably benign	0.01
R0726:Nkain3	UTSW	4	20158388	missense	possibly damaging	0.67
R1600:Nkain3	UTSW	4	20469528	splice site	probably benign
R1702:Nkain3	UTSW	4	20158339	critical splice donor site	probably null
R3707:Nkain3	UTSW	4	20484920	missense	possibly damaging	0.65
R4192:Nkain3	UTSW	4	20485003	nonsense	probably null
R4392:Nkain3	UTSW	4	20282985	missense	possibly damaging	0.89
R4410:Nkain3	UTSW	4	20778284	missense	probably benign	0.20
R4721:Nkain3	UTSW	4	20485015	missense	probably damaging	0.98
R5333:Nkain3	UTSW	4	20484889	missense	probably benign	0.04
R5978:Nkain3	UTSW	4	20485026	splice site	probably null

Predicted Primers

Posted On

2014-03-28