Mutagenetix > Incidental Mutation

Incidental Mutation 'R1731:Slc8b1'

199304

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

039763-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1731 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120649233-120672089 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120659180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 208 (I208T)

Ref Sequence

ENSEMBL: ENSMUSP00000107521 (fasta)

Gene Model

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

AlphaFold

Q925Q3

Predicted Effect

probably benign
Transcript: ENSMUST00000068326
AA Change: I225T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754
AA Change: I225T

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: I225T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754
AA Change: I225T

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

SMART Domains

Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754

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: I208T

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754
AA Change: I208T

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

noncoding transcript
Transcript: ENSMUST00000123326

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,762,805 (GRCm39)	Y140F	probably damaging	Het
Adgrl4	T	G	3: 151,246,623 (GRCm39)	I641S	possibly damaging	Het
Aqp9	A	G	9: 71,030,250 (GRCm39)	I205T	possibly damaging	Het
Arap3	C	T	18: 38,122,965 (GRCm39)	V512I	probably benign	Het
Atf2	C	T	2: 73,675,853 (GRCm39)	G123E	probably damaging	Het
Baz1a	T	C	12: 54,965,330 (GRCm39)	D708G	possibly damaging	Het
Calcrl	A	G	2: 84,175,512 (GRCm39)		probably null	Het
Capzb	T	A	4: 139,007,341 (GRCm39)	W110R	probably damaging	Het
Casp8ap2	A	T	4: 32,641,442 (GRCm39)	N832I	possibly damaging	Het
Cecr2	T	A	6: 120,735,141 (GRCm39)	H764Q	possibly damaging	Het
Cep131	T	C	11: 119,967,742 (GRCm39)		probably null	Het
Ces2e	T	C	8: 105,656,208 (GRCm39)	V173A	probably damaging	Het
Clstn3	T	C	6: 124,408,591 (GRCm39)	D944G	probably benign	Het
Cyb5rl	C	A	4: 106,938,110 (GRCm39)	A189E	probably damaging	Het
Cyp2c40	A	G	19: 39,801,133 (GRCm39)	S41P	probably damaging	Het
Dscam	A	G	16: 96,621,076 (GRCm39)	L544P	probably damaging	Het
Epha2	A	G	4: 141,049,063 (GRCm39)	K640E	possibly damaging	Het
Erap1	T	A	13: 74,814,241 (GRCm39)	C8*	probably null	Het
Fat3	A	G	9: 15,907,233 (GRCm39)	V2923A	probably benign	Het
Fat4	A	T	3: 38,945,459 (GRCm39)	I1451F	probably damaging	Het
Fcsk	A	T	8: 111,621,455 (GRCm39)	I163N	probably damaging	Het
Fzd6	G	A	15: 38,894,722 (GRCm39)	G296D	probably damaging	Het
Gm3486	T	A	14: 41,206,492 (GRCm39)	M194L	probably benign	Het
Gm5592	C	T	7: 40,937,837 (GRCm39)	A373V	probably damaging	Het
Hectd3	T	A	4: 116,853,652 (GRCm39)		probably null	Het
Hira	T	A	16: 18,751,764 (GRCm39)	V521E	probably benign	Het
Hsd17b6	A	G	10: 127,830,348 (GRCm39)	L141S	possibly damaging	Het
Idua	A	G	5: 108,829,538 (GRCm39)	D467G	probably benign	Het
Ikzf4	G	A	10: 128,470,401 (GRCm39)	P373L	probably benign	Het
Kcng1	T	C	2: 168,110,609 (GRCm39)	E185G	probably benign	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lpcat4	T	C	2: 112,074,188 (GRCm39)	L250P	probably damaging	Het
Lrrc49	A	G	9: 60,528,914 (GRCm39)	Y281H	probably damaging	Het
Mta2	C	A	19: 8,925,088 (GRCm39)		probably null	Het
Myo15b	T	C	11: 115,782,386 (GRCm39)	I372T	possibly damaging	Het
Myocd	T	A	11: 65,091,714 (GRCm39)	N76I	probably benign	Het
Nav2	T	A	7: 49,197,922 (GRCm39)	Y1123N	probably damaging	Het
Otogl	A	T	10: 107,652,972 (GRCm39)	C1127S	probably damaging	Het
Pcdhb8	A	G	18: 37,488,891 (GRCm39)	K190E	probably damaging	Het
Pcnx1	A	G	12: 82,037,478 (GRCm39)	H1918R	probably damaging	Het
Pde2a	T	A	7: 101,150,867 (GRCm39)	Y272N	probably damaging	Het
Phldb3	T	C	7: 24,318,660 (GRCm39)	V313A	probably benign	Het
Plch2	C	T	4: 155,091,451 (GRCm39)	V116I	possibly damaging	Het
Plod2	G	A	9: 92,466,657 (GRCm39)		probably null	Het
Ppfibp2	T	C	7: 107,339,796 (GRCm39)	Y730H	probably damaging	Het
Ptprh	T	C	7: 4,604,912 (GRCm39)	E44G	probably benign	Het
Rab11fip1	T	C	8: 27,642,438 (GRCm39)	E787G	probably damaging	Het
Rabep2	T	A	7: 126,043,444 (GRCm39)	L448Q	probably damaging	Het
Rbfox3	A	G	11: 118,387,762 (GRCm39)		probably null	Het
Rgma	T	C	7: 73,059,160 (GRCm39)	V88A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf125	A	G	18: 21,110,873 (GRCm39)	T44A	probably benign	Het
Rusc2	G	T	4: 43,426,046 (GRCm39)	A1384S	probably benign	Het
Selp	T	A	1: 163,969,009 (GRCm39)	C536*	probably null	Het
Serpinb3c	G	A	1: 107,199,504 (GRCm39)	T339I	probably damaging	Het
Slc4a5	C	T	6: 83,273,617 (GRCm39)	R986C	probably damaging	Het
Sp3	G	A	2: 72,776,999 (GRCm39)	H533Y	probably damaging	Het
Speer1e	T	A	5: 11,233,080 (GRCm39)	N14K	probably damaging	Het
Tiam2	A	G	17: 3,568,698 (GRCm39)	R1615G	probably damaging	Het
Tie1	T	C	4: 118,333,460 (GRCm39)	E802G	probably damaging	Het
Tinagl1	A	G	4: 130,061,842 (GRCm39)	V164A	probably benign	Het
Vmn1r68	A	G	7: 10,261,802 (GRCm39)	Y99H	probably damaging	Het
Vmn1r87	T	A	7: 12,865,703 (GRCm39)	T195S	possibly damaging	Het
Vmn2r56	T	C	7: 12,466,972 (GRCm39)	T21A	probably benign	Het
Zfp108	C	A	7: 23,957,964 (GRCm39)	H34Q	possibly damaging	Het
Zfp267	T	A	3: 36,218,620 (GRCm39)	F214L	probably benign	Het
Zfp456	C	T	13: 67,514,674 (GRCm39)	S344N	probably benign	Het
Zscan22	T	C	7: 12,640,907 (GRCm39)	C384R	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
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
R9166:Slc8b1	UTSW	5	120,662,096 (GRCm39)	missense	probably benign	0.01
R9565:Slc8b1	UTSW	5	120,665,865 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTGCTTTAGTGGCTTTCTCAGACCC -3'
(R):5'- TTGACCCAGTTTTCTGTGAGGCCC -3'

Sequencing Primer
(F):5'- TCCCCAAATGTATGGAGACG -3'
(R):5'- TGGGCTCCTGATCACATCTAAAAG -3'

Posted On

2014-05-23