Mutagenetix > Incidental Mutation

Incidental Mutation 'R7488:Slc24a1'

580348

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

045562-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7488 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64830143-64858889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64831764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1111 (V1111A)

Ref Sequence

ENSEMBL: ENSMUSP00000035616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037798] [ENSMUST00000038890]

AlphaFold

Q91WD8

Predicted Effect

probably benign
Transcript: ENSMUST00000037798
AA Change: V1111A

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035616
Gene: ENSMUSG00000034452
AA Change: V1111A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038890

SMART Domains

Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641

Domain	Start	End	E-Value	Type
internal_repeat_1	45	93	3.26e-5	PROSPERO
uDENN	169	276	1.71e-28	SMART
DENN	309	493	2.4e-73	SMART
dDENN	559	633	4.15e-27	SMART
low complexity region	724	735	N/A	INTRINSIC
low complexity region	936	950	N/A	INTRINSIC
low complexity region	1176	1191	N/A	INTRINSIC
low complexity region	1249	1262	N/A	INTRINSIC
low complexity region	1402	1417	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,197,179 (GRCm39)	F251I	possibly damaging	Het
Abcb11	C	T	2: 69,108,146 (GRCm39)	G717D	probably benign	Het
Abcc1	G	A	16: 14,207,763 (GRCm39)	W47*	probably null	Het
Ahnak2	A	G	12: 112,748,641 (GRCm39)	I402T		Het
Ankfy1	G	A	11: 72,650,769 (GRCm39)	R984Q	probably benign	Het
Apaf1	A	G	10: 90,890,242 (GRCm39)	I598T	probably benign	Het
Apobec1	G	T	6: 122,558,521 (GRCm39)	P78Q	possibly damaging	Het
Asap1	A	T	15: 63,991,974 (GRCm39)	I737N	probably benign	Het
Aste1	T	A	9: 105,279,904 (GRCm39)		probably null	Het
Bcr	A	C	10: 74,996,162 (GRCm39)	D902A	possibly damaging	Het
Bicra	T	C	7: 15,723,367 (GRCm39)		probably null	Het
Ccdc27	T	C	4: 154,117,424 (GRCm39)	T508A	probably benign	Het
Ccz1	T	A	5: 143,928,401 (GRCm39)	N383I	probably damaging	Het
Cdh24	T	C	14: 54,869,637 (GRCm39)	D760G	possibly damaging	Het
Cdhr2	T	C	13: 54,865,728 (GRCm39)	I242T	probably benign	Het
Cdk4	T	A	10: 126,900,106 (GRCm39)	M1K	probably null	Het
Cfap96	A	G	8: 46,415,331 (GRCm39)	V225A	probably benign	Het
Cntn5	A	T	9: 9,970,570 (GRCm39)	S302T	probably damaging	Het
Col25a1	G	T	3: 130,378,350 (GRCm39)	G601V	probably damaging	Het
Cpb1	A	G	3: 20,324,488 (GRCm39)	L62P	possibly damaging	Het
Cpne1	T	C	2: 155,919,857 (GRCm39)	T264A	probably benign	Het
Cpvl	T	A	6: 53,924,727 (GRCm39)	N198Y	probably damaging	Het
Cyp2u1	A	C	3: 131,091,596 (GRCm39)	L308R	probably damaging	Het
Ddx54	G	T	5: 120,762,789 (GRCm39)	V637L	probably benign	Het
Dglucy	C	A	12: 100,823,310 (GRCm39)	P472T	possibly damaging	Het
Dync2h1	A	G	9: 7,124,855 (GRCm39)	Y2006H	probably benign	Het
Eif5b	T	C	1: 38,089,387 (GRCm39)	M1121T	possibly damaging	Het
Emsy	A	G	7: 98,264,762 (GRCm39)	V545A	possibly damaging	Het
Ezh1	G	A	11: 101,091,726 (GRCm39)	L480F	possibly damaging	Het
Fbln2	T	A	6: 91,242,845 (GRCm39)		probably null	Het
Gja10	T	A	4: 32,602,058 (GRCm39)	K109*	probably null	Het
Gm28042	A	G	2: 119,870,438 (GRCm39)	N762S	probably benign	Het
Gnb1l	C	A	16: 18,359,220 (GRCm39)	P7Q	possibly damaging	Het
Grem2	A	T	1: 174,664,685 (GRCm39)	S55T	probably damaging	Het
Gsn	A	T	2: 35,186,433 (GRCm39)	N393I	possibly damaging	Het
H6pd	T	A	4: 150,067,093 (GRCm39)	Q439L	probably benign	Het
Hmcn2	G	A	2: 31,310,842 (GRCm39)	G3362E	probably damaging	Het
Ighv11-2	T	C	12: 114,011,978 (GRCm39)	Y79C	probably damaging	Het
Ikzf2	T	A	1: 69,578,544 (GRCm39)	N322Y	probably benign	Het
Il25	A	G	14: 55,170,459 (GRCm39)	I11V	probably benign	Het
Jak2	C	T	19: 29,275,783 (GRCm39)	T741I	probably damaging	Het
Kdm3b	T	C	18: 34,957,934 (GRCm39)	S1300P	probably damaging	Het
Ldb3	T	A	14: 34,289,402 (GRCm39)	Q268L	probably damaging	Het
Lrrc23	T	A	6: 124,756,075 (GRCm39)	D6V	unknown	Het
Megf10	A	G	18: 57,324,187 (GRCm39)	Y76C	probably damaging	Het
Neb	A	T	2: 52,110,233 (GRCm39)	M205K	probably benign	Het
Or12e8	T	C	2: 87,188,597 (GRCm39)	S270P	probably damaging	Het
Or6c2b	G	T	10: 128,947,605 (GRCm39)	Q230K	probably benign	Het
Or8a1	A	G	9: 37,641,983 (GRCm39)	S99P	probably damaging	Het
Pcnx3	G	A	19: 5,717,487 (GRCm39)	R1541W	possibly damaging	Het
Pdgfd	A	G	9: 6,359,739 (GRCm39)	Y270C	probably damaging	Het
Pds5b	A	T	5: 150,646,802 (GRCm39)	D197V	probably damaging	Het
Pknox2	A	G	9: 36,866,127 (GRCm39)	M30T	probably benign	Het
Plekhg1	A	T	10: 3,907,491 (GRCm39)	S858C		Het
Por	A	T	5: 135,762,498 (GRCm39)	E400D	probably benign	Het
Pou2af2	C	A	9: 51,201,360 (GRCm39)	R232L	probably damaging	Het
Psip1	A	G	4: 83,391,275 (GRCm39)		probably null	Het
Retreg1	G	T	15: 25,889,628 (GRCm39)	V111F		Het
Rock1	G	A	18: 10,122,762 (GRCm39)	A353V	probably damaging	Het
Rpl6	C	G	5: 121,346,591 (GRCm39)	R231G	probably benign	Het
Scn7a	C	T	2: 66,587,574 (GRCm39)	R43H	probably benign	Het
Scnn1g	T	A	7: 121,362,657 (GRCm39)	N488K	probably benign	Het
Snapc1	C	T	12: 74,029,285 (GRCm39)	S356L	probably benign	Het
Spata31e2	T	C	1: 26,723,039 (GRCm39)	T714A	possibly damaging	Het
Ssbp2	T	A	13: 91,823,209 (GRCm39)	N201K	probably damaging	Het
Tfdp2	A	G	9: 96,179,695 (GRCm39)	N43D	probably damaging	Het
Tmprss11d	A	G	5: 86,474,309 (GRCm39)	I216T	probably damaging	Het
Tmprss4	A	G	9: 45,086,853 (GRCm39)	S303P	probably benign	Het
Tnpo2	A	G	8: 85,781,663 (GRCm39)	E815G	probably benign	Het
Trav6-1	A	C	14: 52,875,972 (GRCm39)	M1L	possibly damaging	Het
Trpm3	T	C	19: 22,955,937 (GRCm39)	V1133A	probably damaging	Het
Trpv1	C	T	11: 73,129,355 (GRCm39)	P91S	probably benign	Het
Trpv2	T	C	11: 62,480,576 (GRCm39)	Y338H	probably damaging	Het
Txnip	T	C	3: 96,467,539 (GRCm39)	M336T	probably benign	Het
Vmn1r61	A	T	7: 5,613,767 (GRCm39)	H182Q	possibly damaging	Het
Vmn2r105	A	G	17: 20,429,045 (GRCm39)	V677A	probably damaging	Het
Wwp1	G	T	4: 19,627,660 (GRCm39)	T745K	probably damaging	Het
Xkr5	C	A	8: 18,983,608 (GRCm39)	E645*	probably null	Het
Zfp451	C	T	1: 33,818,221 (GRCm39)	R303H	probably benign	Het
Zyg11b	T	C	4: 108,123,655 (GRCm39)	H104R	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
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'- CGGCTCACATTCCTGATCATG -3'
(R):5'- GGGCATTACAAACATGGCCAC -3'

Sequencing Primer
(F):5'- CCTGATCATGTTCATTATTTGATTGG -3'
(R):5'- ACATGGCCACCGTTCGTAC -3'

Posted On

2019-10-07