Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03055:Nkain3'

453377

Institutional Source

Beutler Lab

Gene Symbol

Nkain3

Ensembl Gene

ENSMUSG00000055761

Gene Name

Na+/K+ transporting ATPase interacting 3

Synonyms

E130310K16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL03055 (G1)

Quality Score

87.5

Status

Validated

Chromosome

Chromosomal Location

20118874-20778866 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20778308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 3 (C3F)

Ref Sequence

ENSEMBL: ENSMUSP00000113113 (fasta)

Gene Model

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

AlphaFold

Q3URJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000102998
AA Change: C3F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000100063
Gene: ENSMUSG00000055761
AA Change: C3F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119374
AA Change: C3F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000113113
Gene: ENSMUSG00000055761
AA Change: C3F

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

Meta Mutation Damage Score

0.0896

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (58/59)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900041M22Rik	T	A	11: 117,503,072 (GRCm39)		noncoding transcript	Het
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
A430005L14Rik	T	A	4: 154,045,092 (GRCm39)	S40R	probably benign	Het
Aire	A	G	10: 77,878,903 (GRCm39)	L48P	probably damaging	Het
Alkbh8	T	C	9: 3,345,882 (GRCm39)		probably benign	Het
Aqp7	A	G	4: 41,045,326 (GRCm39)	M18T	probably benign	Het
Cchcr1	T	A	17: 35,837,516 (GRCm39)	M406K	probably benign	Het
Cdhr1	A	T	14: 36,817,054 (GRCm39)	D102E	probably benign	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Clec16a	T	A	16: 10,559,645 (GRCm39)	S973T	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Csmd1	A	G	8: 16,145,515 (GRCm39)	Y1471H	probably damaging	Het
Dnah12	A	G	14: 26,594,697 (GRCm39)	Y3489C	probably damaging	Het
Ect2	T	C	3: 27,191,211 (GRCm39)	E464G	probably damaging	Het
Enpp2	C	A	15: 54,729,481 (GRCm39)		probably null	Het
Erich2	G	T	2: 70,339,529 (GRCm39)	C28F	possibly damaging	Het
Fam135b	A	T	15: 71,493,883 (GRCm39)	H15Q	possibly damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Gfral	T	A	9: 76,115,831 (GRCm39)	T48S	probably benign	Het
Itga10	A	G	3: 96,557,836 (GRCm39)	E293G	probably damaging	Het
Lrp2	A	T	2: 69,288,792 (GRCm39)	N3691K	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nefm	T	C	14: 68,360,358 (GRCm39)	T371A	probably damaging	Het
Nol4l	G	C	2: 153,278,190 (GRCm39)		silent	Het
Nprl3	C	A	11: 32,198,230 (GRCm39)		probably benign	Het
Or52p1	A	T	7: 104,267,413 (GRCm39)	I176F	probably damaging	Het
Pate2	T	C	9: 35,523,069 (GRCm39)		probably benign	Het
Pde4d	A	G	13: 110,071,879 (GRCm39)	K128R	probably damaging	Het
Ptprt	A	G	2: 161,375,533 (GRCm39)	L1329P	probably damaging	Het
Rapgef3	T	C	15: 97,647,370 (GRCm39)		probably benign	Het
Rassf5	T	C	1: 131,172,732 (GRCm39)	I46V	probably benign	Het
Rin1	C	T	19: 5,103,187 (GRCm39)	T481I	probably benign	Het
Samd4b	A	G	7: 28,104,971 (GRCm39)	L524P	possibly damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,097,902 (GRCm39)		silent	Het
Ssh2	C	T	11: 77,299,021 (GRCm39)	Q123*	probably null	Het
St18	G	T	1: 6,872,959 (GRCm39)	L231F	probably damaging	Het
Stk11	A	C	10: 79,963,920 (GRCm39)	D96A	probably damaging	Het
Svil	A	G	18: 5,108,615 (GRCm39)	T1918A	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tlr1	C	A	5: 65,083,939 (GRCm39)	V213F	probably benign	Het
Trappc10	C	T	10: 78,050,520 (GRCm39)	R307Q	probably damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Wnt6	G	A	1: 74,822,013 (GRCm39)	R198H	probably damaging	Het
Yipf2	A	T	9: 21,501,019 (GRCm39)	V98E	probably benign	Het
Zc3h15	A	G	2: 83,491,515 (GRCm39)	T248A	possibly damaging	Het
Zc3hav1	C	T	6: 38,293,251 (GRCm39)		probably null	Het
Zfp697	T	G	3: 98,332,810 (GRCm39)	C79G	possibly damaging	Het

Other mutations in Nkain3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02610:Nkain3	APN	4	20,469,459 (GRCm39)	missense	probably damaging	1.00
I1329:Nkain3	UTSW	4	20,158,329 (GRCm39)	splice site	probably benign
R0726:Nkain3	UTSW	4	20,158,388 (GRCm39)	missense	possibly damaging	0.67
R1485:Nkain3	UTSW	4	20,484,932 (GRCm39)	missense	probably damaging	1.00
R1600:Nkain3	UTSW	4	20,469,528 (GRCm39)	splice site	probably benign
R1702:Nkain3	UTSW	4	20,158,339 (GRCm39)	critical splice donor site	probably null
R3707:Nkain3	UTSW	4	20,484,920 (GRCm39)	missense	possibly damaging	0.65
R4192:Nkain3	UTSW	4	20,485,003 (GRCm39)	nonsense	probably null
R4392:Nkain3	UTSW	4	20,282,985 (GRCm39)	missense	possibly damaging	0.89
R4410:Nkain3	UTSW	4	20,778,284 (GRCm39)	missense	probably benign	0.20
R4721:Nkain3	UTSW	4	20,485,015 (GRCm39)	missense	probably damaging	0.98
R5333:Nkain3	UTSW	4	20,484,889 (GRCm39)	missense	probably benign	0.04
R5978:Nkain3	UTSW	4	20,485,026 (GRCm39)	splice site	probably null
R7208:Nkain3	UTSW	4	20,282,892 (GRCm39)	missense	probably benign	0.01
R8921:Nkain3	UTSW	4	20,245,902 (GRCm39)	missense	unknown
R9090:Nkain3	UTSW	4	20,484,897 (GRCm39)	missense	probably damaging	1.00
R9271:Nkain3	UTSW	4	20,484,897 (GRCm39)	missense	probably damaging	1.00
R9374:Nkain3	UTSW	4	20,778,431 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGCTCTCTCCTGGAACGC -3'
(R):5'- CACGCAGATTAACAAAGGCG -3'

Sequencing Primer
(F):5'- AGTGAACCCAAGCGCGTG -3'
(R):5'- TTAACAAAGGCGACAGCGAGC -3'

Posted On

2017-02-03