Mutagenetix > Incidental Mutation

Incidental Mutation 'R9166:Slc8b1'

696051

Institutional Source

Beutler Lab

Gene Symbol

Slc8b1

Ensembl Gene

ENSMUSG00000032754

Gene Name

solute carrier family 8 (sodium/lithium/calcium exchanger), member B1

Synonyms

NCLX, NCKX6, Slc24a6

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120649233-120672089 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120662096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 279 (S279P)

Ref Sequence

ENSEMBL: ENSMUSP00000064714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068326] [ENSMUST00000076051] [ENSMUST00000111889] [ENSMUST00000111890] [ENSMUST00000140329]

AlphaFold

Q925Q3

Predicted Effect

probably benign
Transcript: ENSMUST00000068326
AA Change: S279P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754
AA Change: S279P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Na_Ca_ex	103	246	5.7e-25	PFAM
low complexity region	262	275	N/A	INTRINSIC
low complexity region	337	351	N/A	INTRINSIC
transmembrane domain	360	382	N/A	INTRINSIC
transmembrane domain	387	409	N/A	INTRINSIC
Pfam:Na_Ca_ex	421	574	1.8e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076051
AA Change: S279P

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754
AA Change: S279P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Na_Ca_ex	113	244	9.2e-19	PFAM
low complexity region	262	275	N/A	INTRINSIC
transmembrane domain	323	345	N/A	INTRINSIC
transmembrane domain	360	382	N/A	INTRINSIC
transmembrane domain	387	409	N/A	INTRINSIC
Pfam:Na_Ca_ex	431	477	2.3e-8	PFAM
low complexity region	507	519	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111889
AA Change: S223P

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754
AA Change: S223P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Na_Ca_ex	113	232	2.5e-16	PFAM
low complexity region	281	295	N/A	INTRINSIC
transmembrane domain	304	326	N/A	INTRINSIC
transmembrane domain	331	353	N/A	INTRINSIC
Pfam:Na_Ca_ex	375	516	1.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111890
AA Change: S262P

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754
AA Change: S262P

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Na_Ca_ex	116	227	2.8e-12	PFAM
low complexity region	245	258	N/A	INTRINSIC
low complexity region	320	334	N/A	INTRINSIC
transmembrane domain	343	365	N/A	INTRINSIC
transmembrane domain	370	392	N/A	INTRINSIC
Pfam:Na_Ca_ex	414	555	3.2e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140329

SMART Domains

Protein: ENSMUSP00000117260
Gene: ENSMUSG00000032754

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]

Allele List at MGI

All alleles(22) : Targeted(3) Gene trapped(19)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,853,046 (GRCm39)	L30P	possibly damaging	Het
Adgrb1	A	C	15: 74,420,475 (GRCm39)	M875L	probably benign	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Ankrd13c	T	A	3: 157,705,357 (GRCm39)	S427T	probably benign	Het
Aopep	G	A	13: 63,318,862 (GRCm39)		probably null	Het
Ap3b1	A	C	13: 94,608,236 (GRCm39)	Y569S	probably damaging	Het
Bco2	A	G	9: 50,447,667 (GRCm39)	V352A	probably benign	Het
Bltp1	T	A	3: 37,041,516 (GRCm39)	N2630K	probably damaging	Het
Cacnb1	T	A	11: 97,910,534 (GRCm39)	D48V	probably damaging	Het
Cdr2l	C	A	11: 115,283,537 (GRCm39)	Q132K	probably benign	Het
Chrd	T	C	16: 20,554,572 (GRCm39)	M377T	probably benign	Het
Coq7	T	C	7: 118,109,365 (GRCm39)	T228A	unknown	Het
D7Ertd443e	G	A	7: 133,900,048 (GRCm39)	T438I	probably benign	Het
Dlc1	C	T	8: 37,066,589 (GRCm39)	E15K	probably damaging	Het
Dlgap5	C	T	14: 47,651,206 (GRCm39)	R109Q	probably damaging	Het
Dysf	T	C	6: 84,126,959 (GRCm39)	V1359A	probably damaging	Het
E2f7	C	T	10: 110,618,085 (GRCm39)	P717S	probably benign	Het
Elmo2	T	C	2: 165,132,438 (GRCm39)	D669G	probably benign	Het
Epha6	A	G	16: 60,425,238 (GRCm39)	V125A	probably benign	Het
Erg	G	T	16: 95,190,807 (GRCm39)	H119N	probably benign	Het
Fam13b	T	C	18: 34,595,252 (GRCm39)	S371G	probably benign	Het
Fancg	G	C	4: 43,006,800 (GRCm39)	Q297E	probably benign	Het
Gas2	A	G	7: 51,586,323 (GRCm39)	E145G	possibly damaging	Het
Gas7	T	C	11: 67,561,446 (GRCm39)	V218A	probably benign	Het
Gm9970	A	G	5: 31,398,345 (GRCm39)	S78P	unknown	Het
Hectd4	A	C	5: 121,446,690 (GRCm39)	D259A	probably damaging	Het
Hoxb2	T	G	11: 96,244,339 (GRCm39)	S317A	probably damaging	Het
Hspg2	T	C	4: 137,270,185 (GRCm39)	L2381P	probably damaging	Het
Irf4	A	T	13: 30,941,484 (GRCm39)	H280L	probably benign	Het
Irf7	A	G	7: 140,844,666 (GRCm39)	V142A	probably benign	Het
Kat7	T	C	11: 95,190,928 (GRCm39)	I94V	probably benign	Het
Kera	T	A	10: 97,448,830 (GRCm39)	I350K	possibly damaging	Het
Klf15	T	C	6: 90,443,952 (GRCm39)	S176P	probably benign	Het
Lrrc59	C	A	11: 94,522,959 (GRCm39)	T53N	probably benign	Het
Morn5	T	C	2: 35,945,024 (GRCm39)	Y83H	probably damaging	Het
Myef2l	A	G	3: 10,153,849 (GRCm39)	N206S	probably benign	Het
Neil3	A	C	8: 54,058,722 (GRCm39)	M273R	probably damaging	Het
Ngfr	A	T	11: 95,465,047 (GRCm39)	V267E	possibly damaging	Het
Nudc	T	C	4: 133,273,165 (GRCm39)	D11G	probably damaging	Het
Or2t1	A	T	14: 14,329,059 (GRCm38)	D316V	probably benign	Het
Or4a81	T	A	2: 89,619,291 (GRCm39)	N135I	probably damaging	Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Pik3cg	C	T	12: 32,242,213 (GRCm39)	G966R	probably damaging	Het
Ppfibp1	A	G	6: 146,920,980 (GRCm39)	T573A	probably damaging	Het
Ppp2r5a	C	A	1: 191,128,504 (GRCm39)	R37L	probably benign	Het
Prpf8	T	C	11: 75,387,340 (GRCm39)	F1207S	possibly damaging	Het
Prtg	A	T	9: 72,764,107 (GRCm39)	I527F	probably damaging	Het
Pspc1	A	G	14: 56,999,305 (GRCm39)	M317T	probably damaging	Het
Ptpru	C	T	4: 131,525,180 (GRCm39)	V768I	probably benign	Het
Ptx4	A	G	17: 25,343,546 (GRCm39)		probably null	Het
Ralgapb	T	C	2: 158,274,842 (GRCm39)		probably null	Het
Rhobtb2	C	A	14: 70,034,703 (GRCm39)	G174V	probably damaging	Het
Sdad1	G	T	5: 92,446,080 (GRCm39)	S285*	probably null	Het
Sema4f	G	T	6: 82,890,626 (GRCm39)	S727*	probably null	Het
Sik1	A	G	17: 32,069,727 (GRCm39)	F241L	probably damaging	Het
Slco4a1	A	G	2: 180,106,034 (GRCm39)	E72G	probably benign	Het
Smok3c	A	T	5: 138,063,781 (GRCm39)	T423S	possibly damaging	Het
Sorcs3	T	C	19: 48,784,811 (GRCm39)	V1078A	probably benign	Het
Sptb	A	G	12: 76,673,776 (GRCm39)	V337A	probably damaging	Het
Tet2	C	A	3: 133,173,933 (GRCm39)	G1443V	probably damaging	Het
Ticam2	A	T	18: 46,694,048 (GRCm39)	L13H	probably damaging	Het
Tnrc6a	A	G	7: 122,786,624 (GRCm39)	E1562G	probably damaging	Het
Trim24	A	T	6: 37,934,074 (GRCm39)	K742N	probably damaging	Het
Trim56	A	T	5: 137,142,751 (GRCm39)	V255E	probably damaging	Het
Trmt12	A	G	15: 58,744,608 (GRCm39)	E2G	probably benign	Het
Tubd1	A	T	11: 86,452,091 (GRCm39)	T353S	probably benign	Het
Vim	T	C	2: 13,579,556 (GRCm39)	V105A	probably benign	Het
Vmn2r58	A	T	7: 41,513,431 (GRCm39)	V404E	probably damaging	Het
Wdr62	G	A	7: 29,941,874 (GRCm39)	P1115L	probably damaging	Het
Wfdc12	G	T	2: 164,032,193 (GRCm39)	C32*	probably null	Het
Zfp750	T	A	11: 121,403,980 (GRCm39)	R298S	probably damaging	Het

Other mutations in Slc8b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Slc8b1	APN	5	120,671,049 (GRCm39)	missense	probably damaging	1.00
IGL01111:Slc8b1	APN	5	120,671,000 (GRCm39)	missense	probably damaging	1.00
IGL02186:Slc8b1	APN	5	120,665,928 (GRCm39)	critical splice donor site	probably null
IGL02448:Slc8b1	APN	5	120,663,856 (GRCm39)	missense	probably damaging	1.00
IGL02501:Slc8b1	APN	5	120,658,918 (GRCm39)	missense	probably damaging	1.00
IGL03380:Slc8b1	APN	5	120,657,800 (GRCm39)	missense	probably damaging	1.00
R0062:Slc8b1	UTSW	5	120,659,928 (GRCm39)	critical splice donor site	probably null
R0062:Slc8b1	UTSW	5	120,659,928 (GRCm39)	critical splice donor site	probably null
R0082:Slc8b1	UTSW	5	120,662,265 (GRCm39)	unclassified	probably benign
R0532:Slc8b1	UTSW	5	120,657,736 (GRCm39)	missense	probably damaging	0.99
R0550:Slc8b1	UTSW	5	120,669,220 (GRCm39)	splice site	probably benign
R0751:Slc8b1	UTSW	5	120,662,260 (GRCm39)	unclassified	probably benign
R1667:Slc8b1	UTSW	5	120,659,147 (GRCm39)	missense	probably benign	0.39
R1710:Slc8b1	UTSW	5	120,657,717 (GRCm39)	missense	probably damaging	1.00
R1731:Slc8b1	UTSW	5	120,659,180 (GRCm39)	missense	probably benign	0.12
R1865:Slc8b1	UTSW	5	120,667,717 (GRCm39)	missense	probably damaging	1.00
R2829:Slc8b1	UTSW	5	120,662,078 (GRCm39)	missense	probably benign	0.22
R4544:Slc8b1	UTSW	5	120,669,218 (GRCm39)	splice site	probably null
R4553:Slc8b1	UTSW	5	120,667,663 (GRCm39)	missense	probably damaging	0.98
R4976:Slc8b1	UTSW	5	120,663,740 (GRCm39)	nonsense	probably null
R4977:Slc8b1	UTSW	5	120,662,352 (GRCm39)	missense	possibly damaging	0.51
R5690:Slc8b1	UTSW	5	120,651,270 (GRCm39)	nonsense	probably null
R5812:Slc8b1	UTSW	5	120,651,403 (GRCm39)	splice site	probably null
R6030:Slc8b1	UTSW	5	120,657,985 (GRCm39)	critical splice donor site	probably null
R6030:Slc8b1	UTSW	5	120,657,985 (GRCm39)	critical splice donor site	probably null
R6107:Slc8b1	UTSW	5	120,667,665 (GRCm39)	missense	probably damaging	0.99
R6411:Slc8b1	UTSW	5	120,659,191 (GRCm39)	missense	probably damaging	0.99
R6486:Slc8b1	UTSW	5	120,671,067 (GRCm39)	missense	probably damaging	1.00
R6542:Slc8b1	UTSW	5	120,667,582 (GRCm39)	missense	probably damaging	1.00
R6550:Slc8b1	UTSW	5	120,662,082 (GRCm39)	missense	probably damaging	1.00
R6992:Slc8b1	UTSW	5	120,665,880 (GRCm39)	missense	probably damaging	0.98
R7672:Slc8b1	UTSW	5	120,671,100 (GRCm39)	missense	probably damaging	0.99
R8056:Slc8b1	UTSW	5	120,658,682 (GRCm39)	missense	probably damaging	1.00
R8444:Slc8b1	UTSW	5	120,651,203 (GRCm39)	start gained	probably benign
R9103:Slc8b1	UTSW	5	120,670,939 (GRCm39)	missense	probably benign	0.00
R9106:Slc8b1	UTSW	5	120,668,416 (GRCm39)	missense	probably damaging	1.00
R9565:Slc8b1	UTSW	5	120,665,865 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGCTATGTGAGACCTTGCC -3'
(R):5'- TCATCTCCTGTGTGGTCCAG -3'

Sequencing Primer
(F):5'- CTTGCCAAGGAAGGAGGG -3'
(R):5'- TCCAGGCAGGGCAGATGTG -3'

Posted On

2022-02-07