Mutagenetix > Incidental Mutation

Incidental Mutation 'R5540:Slc24a1'

435891

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

043098-MU

Accession Numbers

Essential gene?

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

Stock #

R5540 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64830143-64858889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64855863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 348 (V348A)

Ref Sequence

ENSEMBL: ENSMUSP00000035616 (fasta)

Gene Model

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

AlphaFold

Q91WD8

Predicted Effect

unknown
Transcript: ENSMUST00000037798
AA Change: V348A

SMART Domains

Protein: ENSMUSP00000035616
Gene: ENSMUSG00000034452
AA Change: V348A

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	A	G	7: 44,012,371 (GRCm39)	S15P	probably damaging	Het
Actl7a	A	T	4: 56,744,388 (GRCm39)	H305L	probably benign	Het
Adam26b	C	A	8: 43,974,654 (GRCm39)	C116F	probably damaging	Het
Adgrl2	A	G	3: 148,543,198 (GRCm39)		probably null	Het
Akr1b10	A	G	6: 34,371,047 (GRCm39)	T238A	probably damaging	Het
Akr1c18	A	G	13: 4,187,178 (GRCm39)	V186A	probably benign	Het
Alpk3	G	A	7: 80,745,184 (GRCm39)	V1311M	probably damaging	Het
Aox1	A	G	1: 58,143,569 (GRCm39)	N1229S	probably benign	Het
Apobec3	T	A	15: 79,782,120 (GRCm39)	N43K	probably benign	Het
Arid1a	A	C	4: 133,407,765 (GRCm39)	D2247E	unknown	Het
Asph	A	G	4: 9,635,906 (GRCm39)	L77S	probably damaging	Het
Cd300ld	T	A	11: 114,878,231 (GRCm39)	T94S	probably damaging	Het
Celf2	T	C	2: 6,558,743 (GRCm39)	T382A	probably benign	Het
Cfap54	C	T	10: 92,808,470 (GRCm39)	A1402T	possibly damaging	Het
Chrnb1	A	T	11: 69,686,476 (GRCm39)	V48E	probably benign	Het
Col6a5	T	A	9: 105,739,975 (GRCm39)	E2548V	probably benign	Het
Crebrf	A	G	17: 26,961,071 (GRCm39)	D56G	possibly damaging	Het
Dctn5	A	G	7: 121,734,275 (GRCm39)	T40A	probably benign	Het
Dmxl2	A	T	9: 54,301,141 (GRCm39)	N2323K	probably benign	Het
Dync1h1	A	G	12: 110,627,384 (GRCm39)	Q4021R	probably benign	Het
Dyrk1a	T	G	16: 94,486,202 (GRCm39)		probably null	Het
Ephb3	T	A	16: 21,039,610 (GRCm39)	F454Y	probably damaging	Het
Fbxo38	A	G	18: 62,647,864 (GRCm39)		probably null	Het
Flg	T	C	3: 93,184,923 (GRCm39)	F15S	probably damaging	Het
Fndc3b	G	A	3: 27,555,651 (GRCm39)	P301L	probably damaging	Het
Fpr-rs7	C	T	17: 20,334,356 (GRCm39)	G45R	probably damaging	Het
Garin3	A	G	11: 46,295,715 (GRCm39)	N29S	probably damaging	Het
Gfi1	T	A	5: 107,867,991 (GRCm39)	T360S	probably damaging	Het
Grik4	T	C	9: 42,432,243 (GRCm39)	H918R	probably damaging	Het
Hpx	A	G	7: 105,241,119 (GRCm39)	S385P	possibly damaging	Het
Kdm5b	A	G	1: 134,558,979 (GRCm39)	D1501G	probably damaging	Het
Kif20b	A	T	19: 34,915,860 (GRCm39)	M546L	probably benign	Het
Map3k9	G	T	12: 81,819,587 (GRCm39)	N222K	probably damaging	Het
Me1	A	G	9: 86,561,926 (GRCm39)	L53P	possibly damaging	Het
Mis18bp1	T	C	12: 65,195,520 (GRCm39)	E748G	possibly damaging	Het
Morc3	T	A	16: 93,644,268 (GRCm39)	N186K	probably benign	Het
Mtor	A	G	4: 148,539,165 (GRCm39)	T221A	probably benign	Het
Muc6	A	G	7: 141,235,850 (GRCm39)		probably null	Het
Myh8	C	A	11: 67,177,266 (GRCm39)	T444N	probably benign	Het
Myo7b	A	G	18: 32,140,143 (GRCm39)	Y216H	probably damaging	Het
Myom1	G	A	17: 71,416,782 (GRCm39)	V1382M	probably damaging	Het
Nbeal2	A	T	9: 110,460,801 (GRCm39)	Y1718N	probably damaging	Het
Npc1l1	A	G	11: 6,164,546 (GRCm39)	S1168P	probably damaging	Het
Or4c58	A	G	2: 89,675,011 (GRCm39)	F102S	probably damaging	Het
Or4d2	T	A	11: 87,784,511 (GRCm39)	K80*	probably null	Het
Or51f5	C	T	7: 102,424,136 (GRCm39)	A135V	probably benign	Het
Or5an9	T	A	19: 12,187,824 (GRCm39)	I298N	probably damaging	Het
Or6c8b	G	T	10: 128,882,364 (GRCm39)	D189E	probably damaging	Het
Pcdha4	C	A	18: 37,087,890 (GRCm39)	A691E	probably benign	Het
Pde6a	T	G	18: 61,364,438 (GRCm39)	F165V	probably damaging	Het
Ptpn14	A	T	1: 189,578,561 (GRCm39)	M340L	probably benign	Het
Rnasel	G	T	1: 153,630,890 (GRCm39)	E469*	probably null	Het
Rsph3a	T	G	17: 8,164,790 (GRCm39)	L50R	probably benign	Het
Rusc2	A	G	4: 43,423,975 (GRCm39)	Y1043C	probably damaging	Het
Serpinb6b	A	T	13: 33,161,541 (GRCm39)	K86*	probably null	Het
Serpine1	T	C	5: 137,092,063 (GRCm39)	T392A	probably benign	Het
Shcbp1	A	T	8: 4,794,529 (GRCm39)	D421E	probably damaging	Het
Slc26a7	A	G	4: 14,506,621 (GRCm39)	F605L	probably benign	Het
Slc66a1	A	T	4: 139,027,655 (GRCm39)	L229Q	probably damaging	Het
Spag17	A	C	3: 99,963,588 (GRCm39)	E1102A	possibly damaging	Het
Stab2	A	G	10: 86,683,989 (GRCm39)	V2390A	probably benign	Het
Stk11	A	G	10: 79,961,883 (GRCm39)	I35V	probably benign	Het
Stk24	T	C	14: 121,531,693 (GRCm39)	D321G	possibly damaging	Het
Tbx4	A	T	11: 85,801,994 (GRCm39)	N209I	possibly damaging	Het
Tmem225	T	C	9: 40,060,681 (GRCm39)	L80P	probably damaging	Het
Tnfrsf4	C	T	4: 156,098,380 (GRCm39)	T17I	probably benign	Het
Traf3ip1	G	A	1: 91,429,037 (GRCm39)	R268Q	probably benign	Het
Trhde	T	A	10: 114,636,497 (GRCm39)	I237F	probably benign	Het
Ugt2a1	A	T	5: 87,633,915 (GRCm39)	W231R	probably damaging	Het
Vash1	ACTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGC	12: 86,726,831 (GRCm39)		probably benign	Het
Vps16	T	A	2: 130,284,305 (GRCm39)	D685E	probably benign	Het
Washc4	A	G	10: 83,409,657 (GRCm39)	D602G	probably damaging	Het
Wdr59	A	G	8: 112,211,816 (GRCm39)	L377P	possibly damaging	Het
Wdr81	T	C	11: 75,339,896 (GRCm39)	E1364G	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
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
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'- AGATGTGTAGGACCACCCAG -3'
(R):5'- CACCTCTGAGGAGCAAATGAC -3'

Sequencing Primer
(F):5'- TCCACACTGAACAGGTCTGG -3'
(R):5'- CCTCTGAGGAGCAAATGACAGTAAG -3'

Posted On

2016-10-24