Mutagenetix > Incidental Mutation

Incidental Mutation 'R9355:Nkain4'

708313

Institutional Source

Beutler Lab

Gene Symbol

Nkain4

Ensembl Gene

ENSMUSG00000027574

Gene Name

Na+/K+ transporting ATPase interacting 4

Synonyms

C030019F02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R9355 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180576565-180596492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180577775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 193 (N193S)

Ref Sequence

ENSEMBL: ENSMUSP00000099342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103053] [ENSMUST00000108873] [ENSMUST00000108875] [ENSMUST00000148905] [ENSMUST00000151494]

AlphaFold

Q9JMG4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103053
AA Change: N193S

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099342
Gene: ENSMUSG00000027574
AA Change: N193S

Domain	Start	End	E-Value	Type
Pfam:NKAIN	1	206	4.3e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108873

SMART Domains

Protein: ENSMUSP00000104501
Gene: ENSMUSG00000027574

Domain	Start	End	E-Value	Type
Pfam:NKAIN	1	180	2.9e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108875

SMART Domains

Protein: ENSMUSP00000104503
Gene: ENSMUSG00000038840

Domain	Start	End	E-Value	Type
BIR	91	162	1.41e-32	SMART
low complexity region	227	238	N/A	INTRINSIC
RING	239	272	1.65e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139929

SMART Domains

Protein: ENSMUSP00000116965
Gene: ENSMUSG00000027574

Domain	Start	End	E-Value	Type
Pfam:NKAIN	15	144	2.3e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148905

SMART Domains

Protein: ENSMUSP00000119925
Gene: ENSMUSG00000027574

Domain	Start	End	E-Value	Type
Pfam:NKAIN	1	66	1.4e-36	PFAM
Pfam:NKAIN	64	140	8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151494

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	A	G	7: 140,681,817 (GRCm39)	V747A	probably benign	Het
Arfgef1	G	A	1: 10,270,000 (GRCm39)	P383L	probably benign	Het
Arhgef4	A	G	1: 34,849,630 (GRCm39)	E407G	probably benign	Het
Astn1	C	T	1: 158,511,721 (GRCm39)	L1188F	probably damaging	Het
Atg2b	G	A	12: 105,636,980 (GRCm39)	P179S	possibly damaging	Het
Bcl9l	G	A	9: 44,419,000 (GRCm39)	R983H	probably benign	Het
Bmp2k	T	A	5: 97,211,366 (GRCm39)	Y511*	probably null	Het
C1galt1	G	T	6: 7,866,474 (GRCm39)	V107F	probably damaging	Het
Car3	T	A	3: 14,928,664 (GRCm39)	N11K		Het
Ccdc170	A	G	10: 4,508,695 (GRCm39)	R640G	probably benign	Het
Cep126	A	G	9: 8,100,038 (GRCm39)	V832A	possibly damaging	Het
Ces1h	C	T	8: 94,101,149 (GRCm39)	V49I		Het
Clasp2	T	A	9: 113,664,309 (GRCm39)	V310D	probably damaging	Het
Comp	C	T	8: 70,828,699 (GRCm39)	T177M	probably benign	Het
Coro1c	T	C	5: 114,003,726 (GRCm39)	S98G	probably damaging	Het
Cpa6	C	T	1: 10,479,520 (GRCm39)	V238I	probably benign	Het
Crebrf	T	C	17: 26,962,094 (GRCm39)	F397S	probably damaging	Het
Dcpp1	C	A	17: 24,099,987 (GRCm39)	Q3K	possibly damaging	Het
Dzip1l	A	G	9: 99,543,144 (GRCm39)	D533G	possibly damaging	Het
Ecpas	A	T	4: 58,844,114 (GRCm39)	S551T	probably benign	Het
Epha5	T	C	5: 84,253,890 (GRCm39)	E524G	probably damaging	Het
Epha7	A	G	4: 28,935,806 (GRCm39)	Y476C	probably damaging	Het
Erich5	G	T	15: 34,471,001 (GRCm39)	V77F	probably damaging	Het
Fat4	A	G	3: 39,036,047 (GRCm39)	Y3233C	probably damaging	Het
Ggt1	T	A	10: 75,421,716 (GRCm39)	V521E	probably benign	Het
Gm5431	A	G	11: 48,785,275 (GRCm39)	Y89H	probably damaging	Het
Gm5624	A	T	14: 44,799,272 (GRCm39)	L95*	probably null	Het
Gphn	A	G	12: 78,538,968 (GRCm39)	T205A	probably damaging	Het
Grik5	C	A	7: 24,767,597 (GRCm39)	A28S	possibly damaging	Het
H2-K2	A	G	17: 34,216,120 (GRCm39)	S300P	probably benign	Het
H2-Oa	T	C	17: 34,313,723 (GRCm39)	L227P	possibly damaging	Het
Hhip	T	C	8: 80,778,233 (GRCm39)	N99S	probably damaging	Het
Hmcn2	A	T	2: 31,328,302 (GRCm39)	M4328L	probably benign	Het
Htt	A	T	5: 35,053,247 (GRCm39)	M2527L	probably benign	Het
Impdh2	A	T	9: 108,442,402 (GRCm39)	H466L	probably benign	Het
Itgae	G	A	11: 73,006,906 (GRCm39)	G384D	probably damaging	Het
Krt90	T	C	15: 101,461,714 (GRCm39)	S496G	unknown	Het
Krtap5-5	A	G	7: 141,783,114 (GRCm39)	S179P	unknown	Het
Lif	C	T	11: 4,219,044 (GRCm39)	R63W	probably damaging	Het
Lrrc10	T	C	10: 116,881,881 (GRCm39)	V185A	probably damaging	Het
Lrrc27	A	C	7: 138,822,648 (GRCm39)	Q513P	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Map2k3	T	C	11: 60,823,055 (GRCm39)	S3P	possibly damaging	Het
Mc2r	T	C	18: 68,541,195 (GRCm39)	T33A	probably benign	Het
Mefv	T	A	16: 3,525,882 (GRCm39)	D795V	probably damaging	Het
Megf6	A	T	4: 154,338,282 (GRCm39)	R451W	probably damaging	Het
Mrpl21	G	A	19: 3,336,937 (GRCm39)	V103M	probably damaging	Het
Mtmr14	GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC	GCCGCCGCCTC	6: 113,214,948 (GRCm39)		probably null	Het
Myom1	T	C	17: 71,384,888 (GRCm39)	S760P	probably damaging	Het
Ndst4	A	G	3: 125,403,246 (GRCm39)	Y451C	probably damaging	Het
Opa1	T	A	16: 29,432,807 (GRCm39)	L490H	probably damaging	Het
Opcml	A	C	9: 28,814,650 (GRCm39)	I301L	probably benign	Het
Or10ak16	G	A	4: 118,750,784 (GRCm39)	S168N	probably benign	Het
Or1e33	A	G	11: 73,738,643 (GRCm39)	F103L	probably damaging	Het
Or4p23	A	T	2: 88,576,749 (GRCm39)	I161N	probably damaging	Het
Or52s19	T	C	7: 103,008,125 (GRCm39)	H92R	probably benign	Het
Pabpc1l	T	C	2: 163,884,469 (GRCm39)	L402P	probably benign	Het
Palld	C	T	8: 61,969,691 (GRCm39)	R1211H	unknown	Het
Peak1	G	T	9: 56,167,454 (GRCm39)	A158E	probably damaging	Het
Ppfibp2	C	T	7: 107,322,169 (GRCm39)	P406L	probably benign	Het
Qpctl	T	C	7: 18,875,146 (GRCm39)	H362R	probably damaging	Het
Ripor2	A	G	13: 24,885,694 (GRCm39)	H643R	probably benign	Het
Scn11a	A	T	9: 119,584,160 (GRCm39)	L1485Q	probably damaging	Het
Scn2a	A	T	2: 65,594,433 (GRCm39)	I1761F	probably damaging	Het
Scrn3	A	G	2: 73,166,077 (GRCm39)	D370G	probably benign	Het
Sec24b	A	T	3: 129,787,489 (GRCm39)	F877Y	possibly damaging	Het
Slc35f3	T	C	8: 127,108,967 (GRCm39)	I172T	probably damaging	Het
Smc3	T	C	19: 53,622,544 (GRCm39)		probably null	Het
Smpd3	C	T	8: 106,991,825 (GRCm39)	V243M	probably damaging	Het
Sos1	T	A	17: 80,722,479 (GRCm39)	I856F	possibly damaging	Het
Sp2	A	T	11: 96,852,231 (GRCm39)	L231H	possibly damaging	Het
Syne1	T	C	10: 5,318,255 (GRCm39)	Y457C	probably damaging	Het
Tdpoz6	T	C	3: 93,600,307 (GRCm39)	T21A	possibly damaging	Het
Tekt5	T	C	16: 10,213,268 (GRCm39)	T6A	possibly damaging	Het
Tln2	G	T	9: 67,262,529 (GRCm39)	T574K	possibly damaging	Het
Tmem161a	T	C	8: 70,633,821 (GRCm39)	S313P	probably damaging	Het
Trmt12	G	A	15: 58,744,824 (GRCm39)	C74Y	probably damaging	Het
Trpc6	A	G	9: 8,649,473 (GRCm39)	D561G	probably benign	Het
Ttn	A	G	2: 76,700,769 (GRCm39)	V62A		Het
Tubgcp5	T	C	7: 55,467,177 (GRCm39)		probably null	Het
Unc13a	C	T	8: 72,098,375 (GRCm39)	V1137M	possibly damaging	Het
Zfp729a	A	G	13: 67,767,515 (GRCm39)	C905R	probably damaging	Het
Zfp735	A	G	11: 73,602,362 (GRCm39)	I435M	probably benign	Het
Zswim4	C	A	8: 84,955,687 (GRCm39)	G271W	probably damaging	Het

Other mutations in Nkain4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
H8562:Nkain4	UTSW	2	180,584,938 (GRCm39)	missense	probably benign	0.01
IGL02799:Nkain4	UTSW	2	180,577,728 (GRCm39)	splice site	probably null
R0648:Nkain4	UTSW	2	180,584,905 (GRCm39)	missense	possibly damaging	0.91
R1619:Nkain4	UTSW	2	180,577,794 (GRCm39)	missense	probably damaging	0.98
R4472:Nkain4	UTSW	2	180,596,415 (GRCm39)	start codon destroyed	probably null	0.80
R5666:Nkain4	UTSW	2	180,584,995 (GRCm39)	missense	probably damaging	0.99
R5670:Nkain4	UTSW	2	180,584,995 (GRCm39)	missense	probably damaging	0.99
R6191:Nkain4	UTSW	2	180,577,797 (GRCm39)	missense	probably damaging	1.00
R6191:Nkain4	UTSW	2	180,577,796 (GRCm39)	missense	probably damaging	1.00
R6713:Nkain4	UTSW	2	180,585,970 (GRCm39)	missense	probably damaging	1.00
R7228:Nkain4	UTSW	2	180,596,362 (GRCm39)	critical splice donor site	probably null
R8776:Nkain4	UTSW	2	180,585,920 (GRCm39)	missense	probably damaging	1.00
R8776-TAIL:Nkain4	UTSW	2	180,585,920 (GRCm39)	missense	probably damaging	1.00
R9732:Nkain4	UTSW	2	180,585,901 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGTGTGGGGCTACTGAACC -3'
(R):5'- CCAGCAAGGTTTGAGACACAAC -3'

Sequencing Primer
(F):5'- TGGGGCTACTGAACCCATGAC -3'
(R):5'- GGTTTGAGACACAACAGGGAC -3'

Posted On

2022-04-18