Mutagenetix > Incidental Mutations

Incidental Mutation 'R5690:Slc8b1'

443620

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

043323-MU

Accession Numbers

Ncbi RefSeq: NM_133221.2, NM_001177594.1, NM_001177595.1; MGI:2180781

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5690 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120511168-120534024 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 120513205 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 10 (W10*)

Ref Sequence

ENSEMBL: ENSMUSP00000117260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068326] [ENSMUST00000076051] [ENSMUST00000111889] [ENSMUST00000111890] [ENSMUST00000140329] [ENSMUST00000147496]

Predicted Effect

probably null
Transcript: ENSMUST00000068326
AA Change: W10*

SMART Domains

Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754
AA Change: W10*

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 null
Transcript: ENSMUST00000076051
AA Change: W10*

SMART Domains

Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754
AA Change: W10*

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 null
Transcript: ENSMUST00000111889
AA Change: W10*

SMART Domains

Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754
AA Change: W10*

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 null
Transcript: ENSMUST00000111890
AA Change: W10*

SMART Domains

Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754
AA Change: W10*

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 null
Transcript: ENSMUST00000140329
AA Change: W10*

SMART Domains

Protein: ENSMUSP00000117260
Gene: ENSMUSG00000032754
AA Change: W10*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147496

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008F13Rik	G	A	2: 156,865,314	V58I	probably benign	Het
2810474O19Rik	T	C	6: 149,328,237	L927S	possibly damaging	Het
4930533K18Rik	A	G	10: 70,923,314		probably benign	Het
Acadl	T	C	1: 66,853,286	Y126C	probably damaging	Het
Ak6	A	G	13: 100,655,621		probably null	Het
Ap1s1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	5: 137,037,379		probably benign	Het
Aqp7	G	A	4: 41,035,510	T115I	probably benign	Het
Atp6v1e1	A	T	6: 120,808,356		probably null	Het
Axin1	A	G	17: 26,194,937	Y792C	probably damaging	Het
C1s2	T	C	6: 124,631,037	N233S	probably benign	Het
Ccer2	C	A	7: 28,756,204		probably benign	Het
Cfap46	A	G	7: 139,638,353	S1481P	probably benign	Het
Cspg4	A	T	9: 56,898,735	T2277S	probably benign	Het
Ctsl	T	A	13: 64,365,208	N300I	probably damaging	Het
Dnah2	T	C	11: 69,491,544	I1247V	probably benign	Het
Dsg3	A	T	18: 20,522,051	Q135L	probably benign	Het
Efcab14	G	A	4: 115,760,047	V318M	possibly damaging	Het
Etl4	G	A	2: 20,805,836	S910N	probably benign	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Frmd4b	T	C	6: 97,353,203	E133G	possibly damaging	Het
Herc2	T	C	7: 56,157,705	F2514S	probably benign	Het
Il18rap	A	G	1: 40,537,112	D261G	possibly damaging	Het
Klk1b16	A	G	7: 44,140,894		probably null	Het
Lrp1b	A	C	2: 40,750,894		probably null	Het
Mrpl45	C	A	11: 97,321,586		probably benign	Het
Myh13	A	G	11: 67,329,275	E150G	probably damaging	Het
Nbas	T	A	12: 13,336,284	V737D	probably damaging	Het
Ncr1	T	C	7: 4,338,297	Y59H	probably damaging	Het
Nt5c1a	T	A	4: 123,215,939	V277E	probably damaging	Het
Ogfod1	T	A	8: 94,058,141	S343T	probably damaging	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Pnpla1	A	T	17: 28,878,372	I171F	probably damaging	Het
Rdh8	A	G	9: 20,825,489	N259S	probably damaging	Het
Slc22a12	A	G	19: 6,536,848	M496T	probably benign	Het
Smarcc2	G	A	10: 128,484,407	G887S	probably damaging	Het
Smc1b	A	G	15: 85,112,773	S549P	probably damaging	Het
Synj2	A	G	17: 6,035,527	M1181V	probably benign	Het
Tbx15	T	C	3: 99,308,850	S76P	probably damaging	Het
Tbx2	A	T	11: 85,837,053	I271F	probably damaging	Het
Thap4	A	G	1: 93,716,630		probably null	Het
Tmc2	A	G	2: 130,232,386	Y333C	probably damaging	Het
Trcg1	C	T	9: 57,241,811	P222L	probably benign	Het
Tubb3	T	C	8: 123,421,306	V326A	probably benign	Het
Unc80	A	C	1: 66,640,572	I2101L	probably benign	Het
Vmn1r19	T	C	6: 57,404,795	L111S	probably benign	Het
Vps16	C	T	2: 130,439,091	Q226*	probably null	Het
Xpo4	T	C	14: 57,590,989	I805V	probably benign	Het

Other mutations in Slc8b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Slc8b1	APN	5	120532984	missense	probably damaging	1.00
IGL01111:Slc8b1	APN	5	120532935	missense	probably damaging	1.00
IGL02186:Slc8b1	APN	5	120527863	critical splice donor site	probably null
IGL02448:Slc8b1	APN	5	120525791	missense	probably damaging	1.00
IGL02501:Slc8b1	APN	5	120520853	missense	probably damaging	1.00
IGL03380:Slc8b1	APN	5	120519735	missense	probably damaging	1.00
R0062:Slc8b1	UTSW	5	120521863	critical splice donor site	probably null
R0062:Slc8b1	UTSW	5	120521863	critical splice donor site	probably null
R0082:Slc8b1	UTSW	5	120524200	unclassified	probably benign
R0532:Slc8b1	UTSW	5	120519671	missense	probably damaging	0.99
R0550:Slc8b1	UTSW	5	120531155	splice site	probably benign
R0751:Slc8b1	UTSW	5	120524195	unclassified	probably benign
R1667:Slc8b1	UTSW	5	120521082	missense	probably benign	0.39
R1710:Slc8b1	UTSW	5	120519652	missense	probably damaging	1.00
R1731:Slc8b1	UTSW	5	120521115	missense	probably benign	0.12
R1865:Slc8b1	UTSW	5	120529652	missense	probably damaging	1.00
R2829:Slc8b1	UTSW	5	120524013	missense	probably benign	0.22
R4544:Slc8b1	UTSW	5	120531153	splice site	probably null
R4553:Slc8b1	UTSW	5	120529598	missense	probably damaging	0.98
R4976:Slc8b1	UTSW	5	120525675	nonsense	probably null
R4977:Slc8b1	UTSW	5	120524287	missense	possibly damaging	0.51
R5812:Slc8b1	UTSW	5	120513338	splice site	probably null
R6030:Slc8b1	UTSW	5	120519920	critical splice donor site	probably null
R6030:Slc8b1	UTSW	5	120519920	critical splice donor site	probably null
R6107:Slc8b1	UTSW	5	120529600	missense	probably damaging	0.99
R6411:Slc8b1	UTSW	5	120521126	missense	probably damaging	0.99
R6486:Slc8b1	UTSW	5	120533002	missense	probably damaging	1.00
R6542:Slc8b1	UTSW	5	120529517	missense	probably damaging	1.00
R6550:Slc8b1	UTSW	5	120524017	missense	probably damaging	1.00
R6992:Slc8b1	UTSW	5	120527815	missense	probably damaging	0.98
R7672:Slc8b1	UTSW	5	120533035	missense	probably damaging	0.99
R8056:Slc8b1	UTSW	5	120520617	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGGCTTAGCTGGGAAAG -3'
(R):5'- TCTGAGGATTCCTGTAGATCCCAG -3'

Sequencing Primer
(F):5'- GCTTAGCTGGGAAAGGTCTC -3'
(R):5'- AGATCCCAGGGTTGTAATGATTAGC -3'

Posted On

2016-11-09