Mutagenetix > Incidental Mutation

Incidental Mutation 'R4977:Slc8b1'

382739

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

042572-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4977 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120649233-120672089 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120662352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 299 (K299E)

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: K316E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000064714
Gene: ENSMUSG00000032754
AA Change: K316E

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: K316E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000075428
Gene: ENSMUSG00000032754
AA Change: K316E

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: K260E

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107520
Gene: ENSMUSG00000032754
AA Change: K260E

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

possibly damaging
Transcript: ENSMUST00000111890
AA Change: K299E

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107521
Gene: ENSMUSG00000032754
AA Change: K299E

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: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,026,899 (GRCm39)	D910G	probably benign	Het
Amy1	C	T	3: 113,363,026 (GRCm39)		probably null	Het
C1s2	A	G	6: 124,612,598 (GRCm39)	M19T	probably damaging	Het
Cadps2	A	G	6: 23,599,478 (GRCm39)	I276T	probably damaging	Het
Cdyl2	A	G	8: 117,302,008 (GRCm39)	C458R	probably damaging	Het
Cep112	T	C	11: 108,325,062 (GRCm39)	S35P	probably damaging	Het
Chd9	T	C	8: 91,760,336 (GRCm39)	L2027P	possibly damaging	Het
Clcn4	T	A	7: 7,294,436 (GRCm39)	I411F	probably benign	Het
Cyp3a57	T	C	5: 145,286,236 (GRCm39)		probably null	Het
Dis3l	A	C	9: 64,214,483 (GRCm39)	S919A	probably benign	Het
Dnah8	A	G	17: 30,882,275 (GRCm39)	T616A	probably benign	Het
Emx2	A	G	19: 59,447,678 (GRCm39)	T11A	probably damaging	Het
Fbxl18	A	G	5: 142,871,840 (GRCm39)	L465P	probably damaging	Het
Fbxw27	G	A	9: 109,601,187 (GRCm39)	T311I	probably damaging	Het
Fhip1b	A	T	7: 105,038,542 (GRCm39)	D232E	probably damaging	Het
Fstl5	C	T	3: 76,317,801 (GRCm39)	Q156*	probably null	Het
Ggn	G	T	7: 28,871,621 (GRCm39)	G334C	probably damaging	Het
Grik2	T	C	10: 49,008,841 (GRCm39)	N749D	probably damaging	Het
Helb	A	G	10: 119,946,786 (GRCm39)	S176P	probably benign	Het
Hyal1	A	G	9: 107,456,153 (GRCm39)	D73G	probably benign	Het
Ifi205	C	A	1: 173,842,574 (GRCm39)	R374I	probably benign	Het
Ift172	A	T	5: 31,429,460 (GRCm39)	V567D	possibly damaging	Het
Ighv1-43	A	T	12: 114,909,845 (GRCm39)	S26T	possibly damaging	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Jam3	A	G	9: 27,009,669 (GRCm39)	V309A	probably damaging	Het
Kcnh4	A	T	11: 100,637,659 (GRCm39)	L666Q	probably damaging	Het
Kcnk10	A	G	12: 98,406,946 (GRCm39)	V250A	probably benign	Het
Lama1	A	G	17: 68,044,677 (GRCm39)	Y192C	probably damaging	Het
Lamb2	G	A	9: 108,364,846 (GRCm39)	R1200H	probably damaging	Het
Lilra6	T	G	7: 3,917,382 (GRCm39)	R204S	probably benign	Het
Lrrn1	A	G	6: 107,545,668 (GRCm39)	I489V	probably benign	Het
Mdh2	T	A	5: 135,812,263 (GRCm39)	D57E	probably damaging	Het
Mfsd2a	A	G	4: 122,844,302 (GRCm39)	S282P	probably benign	Het
Midn	T	A	10: 79,986,018 (GRCm39)	I36N	probably damaging	Het
Mpped1	A	T	15: 83,680,907 (GRCm39)		probably benign	Het
Myh10	A	G	11: 68,689,197 (GRCm39)	D1258G	possibly damaging	Het
Nup62	T	C	7: 44,478,449 (GRCm39)	S155P	possibly damaging	Het
Or2g7	A	T	17: 38,378,638 (GRCm39)	H192L	possibly damaging	Het
Or2t46	A	G	11: 58,472,455 (GRCm39)	T262A	possibly damaging	Het
Or52ab7	A	T	7: 102,978,040 (GRCm39)	M116L	probably benign	Het
Pex7	T	C	10: 19,745,078 (GRCm39)	T258A	probably benign	Het
Plg	A	G	17: 12,621,976 (GRCm39)	D432G	probably damaging	Het
Plxnd1	A	T	6: 115,971,337 (GRCm39)	S144T	probably damaging	Het
Prkch	T	C	12: 73,749,667 (GRCm39)	F420S	possibly damaging	Het
Psg26	A	G	7: 18,209,235 (GRCm39)	V391A	probably benign	Het
Psg29	G	A	7: 16,942,556 (GRCm39)	G186R	probably damaging	Het
Rev3l	T	A	10: 39,699,574 (GRCm39)	I1357K	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,123 (GRCm39)		probably benign	Het
Runx1	T	A	16: 92,441,235 (GRCm39)		probably null	Het
Sapcd1	A	T	17: 35,245,427 (GRCm39)	S119T	possibly damaging	Het
Sema5a	T	A	15: 32,679,332 (GRCm39)	N870K	probably damaging	Het
Serpina3f	G	A	12: 104,183,314 (GRCm39)	E59K	probably benign	Het
Slco1b2	G	A	6: 141,603,283 (GRCm39)	M221I	probably benign	Het
Smg5	C	T	3: 88,263,032 (GRCm39)	Q812*	probably null	Het
Smr3a	T	G	5: 88,155,962 (GRCm39)		probably null	Het
Syt9	G	A	7: 107,103,479 (GRCm39)	D426N	probably damaging	Het
Tcf25	T	C	8: 124,115,374 (GRCm39)	Y204H	probably benign	Het
Tmeff2	T	A	1: 51,018,715 (GRCm39)	C232*	probably null	Het
Tmem184a	C	A	5: 139,793,757 (GRCm39)	G219V	probably null	Het
Tnc	G	T	4: 63,924,485 (GRCm39)	T1071K	possibly damaging	Het
Tnn	C	A	1: 159,948,188 (GRCm39)	G842W	probably damaging	Het
Tshz3	T	A	7: 36,470,615 (GRCm39)	I868N	probably benign	Het
Ulbp1	C	T	10: 7,397,391 (GRCm39)	R238H	probably benign	Het
Ushbp1	C	T	8: 71,847,693 (GRCm39)		probably null	Het
Usp34	G	C	11: 23,438,982 (GRCm39)	D3515H	probably damaging	Het
Wdr91	T	C	6: 34,887,726 (GRCm39)	E10G	probably damaging	Het
Xdh	A	T	17: 74,205,965 (GRCm39)	F1016L	probably benign	Het
Zfp235	T	G	7: 23,841,609 (GRCm39)	I676S	possibly damaging	Het
Zfp619	G	A	7: 39,186,811 (GRCm39)	C947Y	probably damaging	Het
Zfp663	A	G	2: 165,195,731 (GRCm39)	S163P	probably damaging	Het
Zfp93	A	G	7: 23,974,836 (GRCm39)	I274V	probably benign	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
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'- CAGCTATGACTATGGTGAGGC -3'
(R):5'- GGTCATGGTATCTGTTCAAATCG -3'

Sequencing Primer
(F):5'- TTCCCTGGGCTGAGCTAG -3'
(R):5'- GGTATCTGTTCAAATCGGTAAAACC -3'

Posted On

2016-04-27