Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Slc24a1'

672502

Institutional Source

Beutler Lab

Gene Symbol

Slc24a1

Ensembl Gene

ENSMUSG00000034452

Gene Name

solute carrier family 24 (sodium/potassium/calcium exchanger), member 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64922861-64951607 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64928703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 714 (D714V)

Ref Sequence

ENSEMBL: ENSMUSP00000035616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037798]

AlphaFold

Q91WD8

Predicted Effect

unknown
Transcript: ENSMUST00000037798
AA Change: D714V

SMART Domains

Protein: ENSMUSP00000035616
Gene: ENSMUSG00000034452
AA Change: D714V

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:Na_Ca_ex	425	569	1.7e-28	PFAM
low complexity region	683	699	N/A	INTRINSIC
coiled coil region	747	776	N/A	INTRINSIC
coiled coil region	818	847	N/A	INTRINSIC
coiled coil region	898	928	N/A	INTRINSIC
transmembrane domain	939	956	N/A	INTRINSIC
Pfam:Na_Ca_ex	967	1118	1.7e-33	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele display slow progressive retinal degeneration and develop stationary night blindness. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,332,352	P1167Q	probably damaging	Het
Adcy10	A	T	1: 165,551,298	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,890,056	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,293,203	M439K	probably benign	Het
Arl11	C	A	14: 61,310,973	Y77*	probably null	Het
Bcas3	T	C	11: 85,559,147	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,922,596	A136V	probably benign	Het
Btbd11	A	G	10: 85,627,249	Q626R	probably damaging	Het
C87414	T	C	5: 93,637,801	T207A	possibly damaging	Het
Ccne2	A	G	4: 11,202,279	T345A	probably benign	Het
Ciz1	T	C	2: 32,364,274	S76P	probably benign	Het
Clip4	A	T	17: 71,800,805	K94*	probably null	Het
Cthrc1	G	A	15: 39,084,471	R195H	probably damaging	Het
D430042O09Rik	A	C	7: 125,797,695	R309S	probably benign	Het
Ddx31	T	C	2: 28,840,804		probably benign	Het
Elf2	T	A	3: 51,266,767	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,488,550	N155S	probably benign	Het
Fam198b	T	C	3: 79,908,771	S363P	possibly damaging	Het
Flnb	A	G	14: 7,887,624	D478G	probably benign	Het
Galm	T	A	17: 80,127,786	L24H	probably damaging	Het
Gm14124	T	A	2: 150,267,704	C105S	possibly damaging	Het
Gon4l	G	A	3: 88,895,007	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,664,784	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,386,747	M100K	probably damaging	Het
Ipo8	A	T	6: 148,775,077	D971E	possibly damaging	Het
Itgax	C	T	7: 128,133,807	A286V	probably damaging	Het
Jpt2	T	C	17: 24,960,604	Q3R	probably benign	Het
Klrg2	A	C	6: 38,636,903	L55R	probably damaging	Het
Lrp6	T	A	6: 134,456,178	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,679,179	Q462L	probably benign	Het
Lyg2	T	A	1: 37,909,973	I103F	probably damaging	Het
Map10	T	C	8: 125,669,925	V19A	probably damaging	Het
Map1b	T	A	13: 99,432,815	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,981,733	V40A	probably benign	Het
Myh1	G	A	11: 67,209,141	G626R	probably benign	Het
Myo9a	T	C	9: 59,779,747	V45A	probably benign	Het
Ncdn	A	G	4: 126,745,112	F638S	possibly damaging	Het
Ncs1	T	A	2: 31,284,201	M121K	probably damaging	Het
Nf1	T	C	11: 79,546,354	V16A	probably damaging	Het
Nktr	T	A	9: 121,750,251	D1128E	unknown	Het
Nup205	T	G	6: 35,214,334	L1000R	probably damaging	Het
Obscn	T	C	11: 59,035,095	E5604G	probably damaging	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	T	2: 89,978,371	A198S	possibly damaging	Het
Olfr1370	T	C	13: 21,073,050	N84D	probably damaging	Het
Olfr1446	A	T	19: 12,890,196	V127E	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,708	S228T	unknown	Het
Olfr615	G	T	7: 103,560,609	C44F	probably benign	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,793,255	I294F	probably damaging	Het
Ovch2	A	T	7: 107,794,044	C207*	probably null	Het
P3h2	T	A	16: 25,982,717	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,204,929	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,007,663	S782P	probably benign	Het
Pex1	T	C	5: 3,631,614	V980A	probably benign	Het
Pik3c2a	G	T	7: 116,351,877	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,158,413	*161R	probably null	Het
Ppp1r26	T	A	2: 28,451,180	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,283,072	V830A	probably benign	Het
Prss1	T	A	6: 41,462,586	N84K	probably benign	Het
Rab3il1	G	A	19: 10,026,777	A18T	probably damaging	Het
Sbf2	A	T	7: 110,329,862	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,356,060	D45V	probably damaging	Het
Sik3	G	T	9: 46,178,513	V275L	probably benign	Het
Skint6	C	A	4: 112,988,952	M659I	probably benign	Het
Slc26a5	T	A	5: 21,813,882	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Stradb	A	G	1: 58,994,319	I380M	probably benign	Het
Sult1e1	T	C	5: 87,587,642	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,711,739	A64T	probably benign	Het
Tep1	C	T	14: 50,837,132	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,225	C152S	unknown	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Vmn1r15	A	G	6: 57,258,138		probably benign	Het
Vmn1r19	A	G	6: 57,404,451		probably benign	Het
Vmn1r75	A	G	7: 11,880,703	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,474,670	F241L	probably damaging	Het
Vmn2r66	A	G	7: 85,005,685	L472P	probably damaging	Het
Ylpm1	G	T	12: 84,996,792	W101C	unknown	Het
Zdbf2	C	A	1: 63,308,113	H1884N	probably benign	Het

Other mutations in Slc24a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Slc24a1	APN	9	64928019	missense	probably damaging	0.99
IGL01602:Slc24a1	APN	9	64926181	missense	probably damaging	1.00
IGL03111:Slc24a1	APN	9	64926326	missense	probably damaging	0.98
R0092:Slc24a1	UTSW	9	64948752	missense	unknown
R0708:Slc24a1	UTSW	9	64947890	missense	unknown
R0827:Slc24a1	UTSW	9	64928190	missense	probably benign	0.03
R1294:Slc24a1	UTSW	9	64936013	missense	unknown
R1613:Slc24a1	UTSW	9	64948696	missense	unknown
R2858:Slc24a1	UTSW	9	64949332	missense	unknown
R3779:Slc24a1	UTSW	9	64948297	missense	unknown
R3899:Slc24a1	UTSW	9	64928144	missense	probably damaging	0.99
R3900:Slc24a1	UTSW	9	64928144	missense	probably damaging	0.99
R4409:Slc24a1	UTSW	9	64948224	missense	probably benign	0.39
R4732:Slc24a1	UTSW	9	64949554	missense	probably benign	0.23
R4733:Slc24a1	UTSW	9	64949554	missense	probably benign	0.23
R4745:Slc24a1	UTSW	9	64949476	missense	unknown
R4915:Slc24a1	UTSW	9	64947931	missense	unknown
R5371:Slc24a1	UTSW	9	64949268	missense	unknown
R5448:Slc24a1	UTSW	9	64948327	missense	probably benign	0.39
R5540:Slc24a1	UTSW	9	64948581	missense	unknown
R5863:Slc24a1	UTSW	9	64928542	missense	unknown
R6161:Slc24a1	UTSW	9	64937263	missense	unknown
R6810:Slc24a1	UTSW	9	64948323	missense	probably benign	0.39
R7215:Slc24a1	UTSW	9	64928503	missense	unknown
R7380:Slc24a1	UTSW	9	64948533	missense	unknown
R7453:Slc24a1	UTSW	9	64949301	missense	unknown
R7466:Slc24a1	UTSW	9	64928404	missense	unknown
R7488:Slc24a1	UTSW	9	64924482	missense	probably benign	0.41
R7672:Slc24a1	UTSW	9	64947927	missense	unknown
R7939:Slc24a1	UTSW	9	64928366	missense	probably benign	0.33
R7984:Slc24a1	UTSW	9	64949529	nonsense	probably null
R8097:Slc24a1	UTSW	9	64924452	missense	probably damaging	0.97
R8724:Slc24a1	UTSW	9	64948171	missense	probably benign	0.39
R9122:Slc24a1	UTSW	9	64927196	missense	probably benign	0.03
R9252:Slc24a1	UTSW	9	64928112	missense	probably damaging	0.99
X0063:Slc24a1	UTSW	9	64949143	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGGTTTCACCTTGCCCTTCA -3'
(R):5'- GGCATGCCATAATGGGAAGT -3'

Sequencing Primer
(F):5'- AACTTCTTTGCTTTCTGCCTCAG -3'
(R):5'- CATGCCATAATGGGAAGTTTGCTG -3'

Posted On

2021-04-30