Mutagenetix > Incidental Mutation

Incidental Mutation 'R7466:Slc24a1'

578781

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

045540-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7466 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64922861-64951607 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 64928404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 814 (E814Q)

Ref Sequence

ENSEMBL: ENSMUSP00000035616 (fasta)

Gene Model

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

AlphaFold

Q91WD8

Predicted Effect

unknown
Transcript: ENSMUST00000037798
AA Change: E814Q

SMART Domains

Protein: ENSMUSP00000035616
Gene: ENSMUSG00000034452
AA Change: E814Q

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

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	A	2: 35,088,741	K203*	probably null	Het
Akr1c13	T	C	13: 4,192,437		probably benign	Het
Amer3	A	G	1: 34,587,993	S438G	probably damaging	Het
Aqp9	T	A	9: 71,163,261		probably null	Het
Art4	G	T	6: 136,854,850	H98N	probably damaging	Het
Bdh1	T	C	16: 31,447,604	S70P	probably benign	Het
Ccdc61	A	C	7: 18,891,105	Y503D	probably damaging	Het
Cd163l1	T	C	7: 140,220,706		probably null	Het
Cd180	A	T	13: 102,704,995	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,909,174	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,723,855	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,540,983		probably null	Het
Cfap77	G	T	2: 28,955,613	D247E	probably benign	Het
Cftr	T	C	6: 18,227,973	M388T	probably benign	Het
Chrnb1	G	A	11: 69,784,650	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,177,386	M153R	probably benign	Het
Cnot6l	A	G	5: 96,131,128	V77A	probably benign	Het
Col12a1	C	T	9: 79,655,407	E1798K	possibly damaging	Het
Cth	T	A	3: 157,924,885	D49V	probably benign	Het
Ctnnb1	T	C	9: 120,955,416	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,610,785	N690S	probably benign	Het
Cyhr1	C	T	15: 76,648,186	D241N	probably benign	Het
Dennd4c	A	G	4: 86,774,331	D26G	probably damaging	Het
Dlg5	G	A	14: 24,245,212	P80L	probably damaging	Het
Eef2k	A	G	7: 120,903,484		probably null	Het
Ephb2	C	T	4: 136,659,065	R791H	probably damaging	Het
Erh	T	C	12: 80,640,983	Y22C	probably benign	Het
F5	C	T	1: 164,193,328	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,563,471	C213S	possibly damaging	Het
Fat2	G	T	11: 55,310,432	N605K	probably damaging	Het
Ganab	C	A	19: 8,914,569	S780*	probably null	Het
Gbgt1	C	T	2: 28,502,207	P67S	probably damaging	Het
Gm17190	G	T	13: 96,082,779	G208*	probably null	Het
Grhl2	A	G	15: 37,291,616	Y316C	probably damaging	Het
H2-T10	T	C	17: 36,120,849	T38A	probably benign	Het
Ins1	A	G	19: 52,264,420		probably benign	Het
Ippk	T	C	13: 49,432,467		probably null	Het
Klc4	T	A	17: 46,639,910	I258F	probably benign	Het
Manba	C	A	3: 135,542,393	L348I	probably benign	Het
Mgam	A	G	6: 40,744,789	N347S	probably benign	Het
Myo18b	T	C	5: 112,723,892	T2108A	probably benign	Het
Naip5	A	T	13: 100,221,986	L914*	probably null	Het
Nsa2	C	T	13: 97,131,220	A242T	probably benign	Het
Nsd2	G	A	5: 33,882,147	W834*	probably null	Het
Olfr1134	T	C	2: 87,656,396	N175S	possibly damaging	Het
Olfr1419	T	A	19: 11,870,316	D300V	possibly damaging	Het
Olfr285	T	C	15: 98,313,380	M57V	probably damaging	Het
Olfr469	A	T	7: 107,822,922	C182*	probably null	Het
Pam	A	T	1: 97,842,247	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,636,884	K864R	probably damaging	Het
Plcl2	A	G	17: 50,608,468	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,196,157	A329S	probably damaging	Het
Prep	T	C	10: 45,150,438	V486A	probably benign	Het
Prkcb	A	T	7: 122,516,844	N182I	probably damaging	Het
Prkcz	A	G	4: 155,271,602	F355S	probably damaging	Het
Psg20	C	T	7: 18,684,467	S125N	probably benign	Het
Psmd12	A	G	11: 107,492,057	D234G	probably benign	Het
Pvrig	A	T	5: 138,342,008	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,226,484		probably null	Het
Rfc1	A	T	5: 65,275,426	C764S	probably damaging	Het
Ryr3	T	C	2: 112,926,957	D351G	probably benign	Het
Serpinb9g	T	C	13: 33,495,167	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,832,266	L315F	probably damaging	Het
Slc26a11	A	T	11: 119,374,502	Q355L	probably damaging	Het
Sp100	C	T	1: 85,707,239	L483F	possibly damaging	Het
St5	A	G	7: 109,525,346	L1096P	probably damaging	Het
Ston1	T	A	17: 88,635,901	M245K	probably benign	Het
Swap70	T	A	7: 110,274,772	D442E	probably benign	Het
Syne2	T	A	12: 76,046,186	V450D	possibly damaging	Het
Tbck	T	A	3: 132,752,563	N651K	probably damaging	Het
Timd4	A	T	11: 46,817,758	T204S	probably benign	Het
Tmem102	A	G	11: 69,804,885	L87P	probably damaging	Het
Tmem55a	T	A	4: 14,912,477	Y195*	probably null	Het
Tmprss11e	T	A	5: 86,709,480	T325S	probably benign	Het
Trpm1	G	A	7: 64,240,582	V978M	probably damaging	Het
Wdr12	A	T	1: 60,094,511	D19E	probably benign	Het
Wdr35	G	A	12: 9,005,773	V482I	probably benign	Het
Wdr63	T	C	3: 146,055,618	D661G	probably benign	Het
Zer1	T	C	2: 30,101,484		probably null	Het
Zfp503	T	C	14: 21,986,011	D279G	probably benign	Het
Zfp870	A	T	17: 32,883,762	C198S	possibly damaging	Het
Zfyve26	C	T	12: 79,287,807	E146K	probably benign	Het
Zkscan6	T	C	11: 65,828,531	V459A	probably damaging	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
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
R8812:Slc24a1	UTSW	9	64928703	missense	unknown
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'- TGGGTGGCCTCACATTGATC -3'
(R):5'- ATGTGGATGAGGCTGAACGC -3'

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

Posted On

2019-10-07