Mutagenetix > Incidental Mutation

Incidental Mutation 'R8724:Slc24a1'

662294

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

068573-MU

Accession Numbers

Essential gene?

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

Stock #

R8724 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64830143-64858889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64855453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 485 (I485V)

Ref Sequence

ENSEMBL: ENSMUSP00000035616 (fasta)

Gene Model

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

AlphaFold

Q91WD8

Predicted Effect

probably benign
Transcript: ENSMUST00000037798
AA Change: I485V

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000035616
Gene: ENSMUSG00000034452
AA Change: I485V

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: 99.5%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	C	T	3: 95,584,426 (GRCm39)	R990Q	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ank2	A	T	3: 126,737,405 (GRCm39)	D2826E	unknown	Het
Asb3	A	T	11: 31,051,120 (GRCm39)	I486F	probably damaging	Het
Atg4b	A	T	1: 93,696,023 (GRCm39)	Y54F	probably damaging	Het
Atp1a2	T	A	1: 172,106,945 (GRCm39)	I792F	probably benign	Het
Bltp1	G	A	3: 36,945,042 (GRCm39)	V334I	probably damaging	Het
Ccser1	A	C	6: 61,288,199 (GRCm39)	S121R	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Cep120	A	T	18: 53,856,199 (GRCm39)	V406E	possibly damaging	Het
Ces2g	C	A	8: 105,692,955 (GRCm39)	A331D	probably benign	Het
Csnk1g2	G	A	10: 80,474,760 (GRCm39)	R299H	probably damaging	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dock10	T	G	1: 80,570,344 (GRCm39)	I371L	probably benign	Het
Dpp9	T	A	17: 56,512,867 (GRCm39)	T114S	probably benign	Het
Dusp13b	T	C	14: 21,796,475 (GRCm39)	R160G	probably benign	Het
Dync2i2	T	C	2: 29,923,961 (GRCm39)	D188G	probably benign	Het
Edem3	A	G	1: 151,651,624 (GRCm39)	K122R	possibly damaging	Het
Ehbp1l1	A	G	19: 5,765,886 (GRCm39)	S1486P	possibly damaging	Het
Elf3	A	G	1: 135,182,098 (GRCm39)	I361T	probably damaging	Het
Epha3	C	T	16: 63,403,818 (GRCm39)	C761Y	probably damaging	Het
Ephb2	A	G	4: 136,498,368 (GRCm39)	I237T	probably damaging	Het
Eya1	A	T	1: 14,279,206 (GRCm39)	D346E	probably benign	Het
Fat2	T	C	11: 55,173,786 (GRCm39)	Y2309C	probably damaging	Het
Fbn1	T	C	2: 125,202,066 (GRCm39)	D1269G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fnbp4	T	C	2: 90,577,097 (GRCm39)	V143A	probably damaging	Het
Foxo6	A	G	4: 120,144,109 (GRCm39)	I114T	probably damaging	Het
Gm6741	T	C	17: 91,544,564 (GRCm39)	I109T	probably benign	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Hsf1	C	T	15: 76,381,999 (GRCm39)	S199L	probably damaging	Het
Htr3a	T	C	9: 48,815,981 (GRCm39)	N152S	probably damaging	Het
Ikzf2	T	A	1: 69,617,100 (GRCm39)	E82D	probably benign	Het
Kank2	T	G	9: 21,705,917 (GRCm39)	K367T	possibly damaging	Het
Kif20b	T	A	19: 34,916,146 (GRCm39)		probably benign	Het
Ktn1	G	A	14: 47,931,335 (GRCm39)	V643I	probably benign	Het
Lipk	G	A	19: 33,996,120 (GRCm39)	V11M	probably benign	Het
Med4	T	A	14: 73,751,249 (GRCm39)	L66*	probably null	Het
Mtus1	T	C	8: 41,451,500 (GRCm39)	K379E	probably damaging	Het
Nat1	T	A	8: 67,944,443 (GRCm39)	I276N	probably damaging	Het
Nav2	G	A	7: 49,141,184 (GRCm39)	V910M	possibly damaging	Het
Or10ag53	T	A	2: 87,082,704 (GRCm39)	I141N	probably damaging	Het
Or4a80	A	T	2: 89,582,373 (GRCm39)	D266E	probably damaging	Het
Pcdh9	A	G	14: 94,124,583 (GRCm39)	V529A	probably benign	Het
Pcdhga7	C	T	18: 37,848,146 (GRCm39)	T51I	probably benign	Het
Pdcd1	A	G	1: 93,968,956 (GRCm39)	Y121H	probably damaging	Het
Pdia6	A	G	12: 17,333,982 (GRCm39)	D438G	unknown	Het
Pgm1	A	G	4: 99,786,964 (GRCm39)	T68A	probably benign	Het
Pik3c2g	G	A	6: 139,913,619 (GRCm39)	V1006I	unknown	Het
Plk4	C	T	3: 40,768,022 (GRCm39)	T855I	probably damaging	Het
Pnldc1	T	A	17: 13,111,703 (GRCm39)	N335Y	probably damaging	Het
Prkcq	C	T	2: 11,304,784 (GRCm39)	P658S	probably benign	Het
Rbl2	T	C	8: 91,841,837 (GRCm39)	I1011T	possibly damaging	Het
Rev1	A	C	1: 38,127,150 (GRCm39)	V370G	probably damaging	Het
Rtn4	A	G	11: 29,643,316 (GRCm39)	E43G	unknown	Het
Rtp2	C	T	16: 23,746,064 (GRCm39)	G189D	possibly damaging	Het
Ryr1	G	A	7: 28,816,802 (GRCm39)	A78V	probably benign	Het
Sel1l3	A	C	5: 53,293,165 (GRCm39)	Y850*	probably null	Het
Senp3	T	C	11: 69,564,419 (GRCm39)	Q547R	probably damaging	Het
Siglecf	T	C	7: 43,004,976 (GRCm39)	L402P	probably damaging	Het
Slc45a2	T	A	15: 11,012,610 (GRCm39)	H204Q	probably benign	Het
Slc9a4	T	G	1: 40,623,301 (GRCm39)	I180S	probably damaging	Het
Smyd1	T	A	6: 71,193,767 (GRCm39)	Y420F	probably damaging	Het
Sorcs1	A	G	19: 50,139,658 (GRCm39)	I1168T	probably benign	Het
Syne1	T	C	10: 5,033,861 (GRCm39)	E7737G	possibly damaging	Het
Trappc4	T	A	9: 44,316,560 (GRCm39)	H145L	probably benign	Het
Wdr75	T	A	1: 45,856,560 (GRCm39)	W528R	probably damaging	Het
Zc3h13	T	C	14: 75,569,512 (GRCm39)	V1453A	probably benign	Het
Zfp143	T	C	7: 109,681,110 (GRCm39)	I318T	probably benign	Het
Zfp846	G	A	9: 20,505,352 (GRCm39)	R404H	possibly 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
R7939:Slc24a1	UTSW	9	64,835,648 (GRCm39)	missense	probably benign	0.33
R7984:Slc24a1	UTSW	9	64,856,811 (GRCm39)	nonsense	probably null
R8097:Slc24a1	UTSW	9	64,831,734 (GRCm39)	missense	probably damaging	0.97
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'- AGGCAATGAAACTGTCCAGG -3'
(R):5'- CTGTTCAGTGTGGAGGATCGAC -3'

Sequencing Primer
(F):5'- CTGTCCAGGAAGAAGACAATGAGC -3'
(R):5'- CTACACATCTTCGGCATGATGTATG -3'

Posted On

2021-03-08