Mutagenetix > Incidental Mutation

Incidental Mutation 'R7939:Slc24a1'

648947

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

045985-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7939 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64830143-64858889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 64835648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 826 (E826D)

Ref Sequence

ENSEMBL: ENSMUSP00000035616 (fasta)

Gene Model

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

AlphaFold

Q91WD8

Predicted Effect

probably benign
Transcript: ENSMUST00000037798
AA Change: E826D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035616
Gene: ENSMUSG00000034452
AA Change: E826D

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: 99.7%
20x: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,275,433 (GRCm39)	I415T	probably damaging	Het
Ackr3	A	G	1: 90,142,287 (GRCm39)	S249G	probably benign	Het
Adgre1	G	T	17: 57,756,938 (GRCm39)	A732S	probably damaging	Het
Ahnak	T	A	19: 8,991,448 (GRCm39)	L4244*	probably null	Het
Aldh3a2	C	A	11: 61,115,424 (GRCm39)	C511F	probably benign	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ankrd11	A	T	8: 123,617,812 (GRCm39)	H2013Q	probably damaging	Het
Atp5mc3	A	G	2: 73,740,206 (GRCm39)		probably null	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Chtf18	A	T	17: 25,941,111 (GRCm39)	I629N	probably damaging	Het
Clstn3	T	C	6: 124,439,158 (GRCm39)	Y33C	probably damaging	Het
Cmc2	T	C	8: 117,616,513 (GRCm39)	R71G	unknown	Het
Cts7	A	T	13: 61,504,364 (GRCm39)	N66K	probably damaging	Het
Cysltr2	C	T	14: 73,267,399 (GRCm39)	V104I	possibly damaging	Het
Dnai4	G	A	4: 102,953,798 (GRCm39)	Q134*	probably null	Het
Dnm3	C	T	1: 162,123,165 (GRCm39)	V460I	possibly damaging	Het
Ecel1	C	T	1: 87,077,256 (GRCm39)	V651I	probably benign	Het
Ext2	G	A	2: 93,560,601 (GRCm39)	R522C	probably damaging	Het
Farp2	T	C	1: 93,487,983 (GRCm39)	L70P	probably damaging	Het
Fnip1	T	C	11: 54,393,093 (GRCm39)	Y510H	probably damaging	Het
Gm15446	T	C	5: 110,090,360 (GRCm39)	V204A	probably benign	Het
Gm29394	T	C	15: 57,912,046 (GRCm39)	K53E	unknown	Het
Gm39115	T	C	7: 141,689,768 (GRCm39)	T2A	unknown	Het
Helz2	A	G	2: 180,879,543 (GRCm39)	W692R	probably damaging	Het
Htra2	A	T	6: 83,028,545 (GRCm39)	Y428N	probably damaging	Het
Khdrbs2	T	A	1: 32,212,056 (GRCm39)	S20T	probably benign	Het
Kifap3	C	A	1: 163,643,427 (GRCm39)	Y217*	probably null	Het
Mast2	A	T	4: 116,287,668 (GRCm39)	S136T	probably benign	Het
Mesp1	C	T	7: 79,442,734 (GRCm39)	W181*	probably null	Het
Mtch1	A	C	17: 29,559,806 (GRCm39)	S158A	probably damaging	Het
Mtmr10	C	A	7: 63,963,899 (GRCm39)	S211R	probably benign	Het
Mtmr9	C	A	14: 63,771,973 (GRCm39)	Q204H	probably damaging	Het
Myo5a	A	G	9: 75,097,182 (GRCm39)	N43D		Het
Myom3	G	T	4: 135,534,589 (GRCm39)		probably null	Het
Neb	T	C	2: 52,076,073 (GRCm39)	D5903G	probably damaging	Het
Niban1	T	G	1: 151,581,775 (GRCm39)	L457R	probably damaging	Het
Noxred1	A	G	12: 87,268,105 (GRCm39)	V342A	probably benign	Het
Nsd2	T	A	5: 34,012,933 (GRCm39)	S421R	probably benign	Het
Or10a3	T	C	7: 108,480,481 (GRCm39)	I111V	probably benign	Het
Or5p55	T	A	7: 107,566,986 (GRCm39)	C127*	probably null	Het
Oxa1l	T	C	14: 54,604,876 (GRCm39)	C270R	probably benign	Het
Pcdha3	T	A	18: 37,080,933 (GRCm39)	N558K	probably damaging	Het
Pcdha7	T	C	18: 37,109,063 (GRCm39)	V696A	possibly damaging	Het
Pigl	T	C	11: 62,349,506 (GRCm39)	L74P	probably damaging	Het
Plch2	G	T	4: 155,087,235 (GRCm39)	R339S	possibly damaging	Het
Prdm11	G	T	2: 92,843,074 (GRCm39)	D128E	probably damaging	Het
Ptdss1	A	G	13: 67,143,411 (GRCm39)	T415A	probably benign	Het
Ptprj	A	T	2: 90,295,009 (GRCm39)	W400R	probably damaging	Het
Qdpr	T	C	5: 45,607,407 (GRCm39)	Y13C	probably damaging	Het
Retsat	G	A	6: 72,581,919 (GRCm39)	M355I	probably benign	Het
Taok3	T	C	5: 117,331,902 (GRCm39)	F40L	probably benign	Het
Tecta	T	C	9: 42,299,519 (GRCm39)	T190A	probably damaging	Het
Tmem220	C	A	11: 66,920,850 (GRCm39)	T85K	probably damaging	Het
Traip	T	C	9: 107,833,077 (GRCm39)	F38L	probably benign	Het
Tspan1	A	T	4: 116,024,209 (GRCm39)	I18N	probably damaging	Het
Ttc24	A	T	3: 87,981,945 (GRCm39)	D40E	possibly damaging	Het
Ttn	A	T	2: 76,542,737 (GRCm39)	Y33416*	probably null	Het
Ttn	A	T	2: 76,576,105 (GRCm39)	D24929E	probably damaging	Het
Vmn2r16	T	A	5: 109,487,705 (GRCm39)	S193T	possibly damaging	Het
Vmn2r83	T	A	10: 79,314,651 (GRCm39)	W300R	probably damaging	Het
Vps13a	C	T	19: 16,718,155 (GRCm39)	V522M	possibly damaging	Het
Wdr17	C	A	8: 55,140,677 (GRCm39)	R232L	probably damaging	Het
Wtap	A	T	17: 13,200,683 (GRCm39)	Y33*	probably null	Het
Zc3h10	A	T	10: 128,380,376 (GRCm39)	V327E	probably damaging	Het
Zfp658	T	C	7: 43,224,301 (GRCm39)	S859P	possibly damaging	Het
Zfp874b	A	T	13: 67,622,622 (GRCm39)	C225*	probably null	Het
Zfp980	A	T	4: 145,428,582 (GRCm39)	H437L	probably damaging	Het

Other mutations in Slc24a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Slc24a1	APN	9	64,835,301 (GRCm39)	missense	probably damaging	0.99
IGL01602:Slc24a1	APN	9	64,833,463 (GRCm39)	missense	probably damaging	1.00
IGL03111:Slc24a1	APN	9	64,833,608 (GRCm39)	missense	probably damaging	0.98
R0092:Slc24a1	UTSW	9	64,856,034 (GRCm39)	missense	unknown
R0708:Slc24a1	UTSW	9	64,855,172 (GRCm39)	missense	unknown
R0827:Slc24a1	UTSW	9	64,835,472 (GRCm39)	missense	probably benign	0.03
R1294:Slc24a1	UTSW	9	64,843,295 (GRCm39)	missense	unknown
R1613:Slc24a1	UTSW	9	64,855,978 (GRCm39)	missense	unknown
R2858:Slc24a1	UTSW	9	64,856,614 (GRCm39)	missense	unknown
R3779:Slc24a1	UTSW	9	64,855,579 (GRCm39)	missense	unknown
R3899:Slc24a1	UTSW	9	64,835,426 (GRCm39)	missense	probably damaging	0.99
R3900:Slc24a1	UTSW	9	64,835,426 (GRCm39)	missense	probably damaging	0.99
R4409:Slc24a1	UTSW	9	64,855,506 (GRCm39)	missense	probably benign	0.39
R4732:Slc24a1	UTSW	9	64,856,836 (GRCm39)	missense	probably benign	0.23
R4733:Slc24a1	UTSW	9	64,856,836 (GRCm39)	missense	probably benign	0.23
R4745:Slc24a1	UTSW	9	64,856,758 (GRCm39)	missense	unknown
R4915:Slc24a1	UTSW	9	64,855,213 (GRCm39)	missense	unknown
R5371:Slc24a1	UTSW	9	64,856,550 (GRCm39)	missense	unknown
R5448:Slc24a1	UTSW	9	64,855,609 (GRCm39)	missense	probably benign	0.39
R5540:Slc24a1	UTSW	9	64,855,863 (GRCm39)	missense	unknown
R5863:Slc24a1	UTSW	9	64,835,824 (GRCm39)	missense	unknown
R6161:Slc24a1	UTSW	9	64,844,545 (GRCm39)	missense	unknown
R6810:Slc24a1	UTSW	9	64,855,605 (GRCm39)	missense	probably benign	0.39
R7215:Slc24a1	UTSW	9	64,835,785 (GRCm39)	missense	unknown
R7380:Slc24a1	UTSW	9	64,855,815 (GRCm39)	missense	unknown
R7453:Slc24a1	UTSW	9	64,856,583 (GRCm39)	missense	unknown
R7466:Slc24a1	UTSW	9	64,835,686 (GRCm39)	missense	unknown
R7488:Slc24a1	UTSW	9	64,831,764 (GRCm39)	missense	probably benign	0.41
R7672:Slc24a1	UTSW	9	64,855,209 (GRCm39)	missense	unknown
R7984:Slc24a1	UTSW	9	64,856,811 (GRCm39)	nonsense	probably null
R8097:Slc24a1	UTSW	9	64,831,734 (GRCm39)	missense	probably damaging	0.97
R8724:Slc24a1	UTSW	9	64,855,453 (GRCm39)	missense	probably benign	0.39
R8812:Slc24a1	UTSW	9	64,835,985 (GRCm39)	missense	unknown
R9122:Slc24a1	UTSW	9	64,834,478 (GRCm39)	missense	probably benign	0.03
R9252:Slc24a1	UTSW	9	64,835,394 (GRCm39)	missense	probably damaging	0.99
X0063:Slc24a1	UTSW	9	64,856,425 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGGTGGCCTCACATTGATC -3'
(R):5'- ATGTGGATGAGGCTGAACGC -3'

Sequencing Primer
(F):5'- GGTGGCCTCACATTGATCTTCAG -3'
(R):5'- TGAGGCTGAACGCAGAGG -3'

Posted On

2020-09-15