Mutagenetix > Incidental Mutation

Incidental Mutation 'R5371:Slc24a1'

428736

Institutional Source

Beutler Lab

Gene Symbol

Slc24a1

Ensembl Gene

ENSMUSG00000034452

Gene Name

solute carrier family 24 (sodium/potassium/calcium exchanger), member 1

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R5371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64830143-64858889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64856550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 119 (K119R)

Ref Sequence

ENSEMBL: ENSMUSP00000035616 (fasta)

Gene Model

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

AlphaFold

Q91WD8

Predicted Effect

unknown
Transcript: ENSMUST00000037798
AA Change: K119R

SMART Domains

Protein: ENSMUSP00000035616
Gene: ENSMUSG00000034452
AA Change: K119R

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

Meta Mutation Damage Score

0.0861

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (71/74)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,261,918 (GRCm39)		noncoding transcript	Het
Arpp21	G	A	9: 111,895,000 (GRCm39)	P755S	probably benign	Het
Aspm	C	T	1: 139,398,279 (GRCm39)	Q982*	probably null	Het
Atp5f1e	C	T	2: 174,304,319 (GRCm39)		probably benign	Het
BC024139	A	G	15: 76,004,886 (GRCm39)	*598Q	probably null	Het
Bcl6	T	A	16: 23,788,736 (GRCm39)	D544V	possibly damaging	Het
Ccdc9	A	T	7: 16,014,655 (GRCm39)	D195E	probably damaging	Het
Cd38	A	G	5: 44,026,225 (GRCm39)	N3S	probably benign	Het
Cfap46	A	T	7: 139,212,097 (GRCm39)		probably null	Het
Cmtr2	T	C	8: 110,948,044 (GRCm39)	F118S	probably damaging	Het
Cyp7a1	A	G	4: 6,268,378 (GRCm39)	F449S	probably damaging	Het
Dnah10	C	T	5: 124,820,693 (GRCm39)	A509V	probably benign	Het
Dsp	A	T	13: 38,378,865 (GRCm39)	Q1271L	probably damaging	Het
Edar	A	C	10: 58,443,274 (GRCm39)	V284G	possibly damaging	Het
Fdft1	A	G	14: 63,388,750 (GRCm39)	V294A	probably damaging	Het
Gba1	T	A	3: 89,112,778 (GRCm39)	V140E	probably benign	Het
Gm12185	A	T	11: 48,806,566 (GRCm39)	S208R	probably benign	Het
Gm21028	C	A	7: 42,227,946 (GRCm39)	E23*	probably null	Het
Gm6871	A	G	7: 41,222,992 (GRCm39)	L32P	probably benign	Het
Hhip	C	T	8: 80,724,220 (GRCm39)	V341M	probably damaging	Het
Kcnq2	C	A	2: 180,776,813 (GRCm39)	V25L	probably damaging	Het
Krit1	C	A	5: 3,881,551 (GRCm39)	H548N	probably damaging	Het
Kynu	C	T	2: 43,479,406 (GRCm39)	A100V	probably benign	Het
Lpp	T	C	16: 24,708,554 (GRCm39)	C295R	probably damaging	Het
Mdp1	A	G	14: 55,897,806 (GRCm39)	V9A	probably damaging	Het
Mllt3	T	C	4: 87,759,093 (GRCm39)	I318M	possibly damaging	Het
Mpzl3	A	G	9: 44,966,510 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mup8	A	G	4: 60,222,423 (GRCm39)	V16A	probably benign	Het
Myh13	T	A	11: 67,235,616 (GRCm39)		probably null	Het
Myh4	A	T	11: 67,150,150 (GRCm39)	Q1869L	probably damaging	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Olfr908	CACAACAACA	CACAACA	9: 38,427,434 (GRCm39)		probably benign	Het
Or13c7b	A	T	4: 43,821,058 (GRCm39)	M101K	probably damaging	Het
Or51h7	T	A	7: 102,591,719 (GRCm39)	M22L	probably benign	Het
Or5d43	C	A	2: 88,104,976 (GRCm39)	C139F	probably damaging	Het
Parp11	T	C	6: 127,447,755 (GRCm39)	F30L	probably damaging	Het
Pcdhgc3	A	T	18: 37,941,507 (GRCm39)	D636V	possibly damaging	Het
Ppp1cb	T	C	5: 32,643,332 (GRCm39)	F234L	probably damaging	Het
Rras2	A	T	7: 113,649,572 (GRCm39)	V164E	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGACGGCGGCG	7: 97,229,120 (GRCm39)		probably benign	Het
Scg3	T	C	9: 75,568,583 (GRCm39)	T390A	probably damaging	Het
Shh	C	A	5: 28,671,688 (GRCm39)	C25F	probably damaging	Het
Speg	G	T	1: 75,408,037 (GRCm39)	R3244L	possibly damaging	Het
Spns1	A	G	7: 125,972,936 (GRCm39)		probably benign	Het
Sptbn4	A	C	7: 27,059,166 (GRCm39)		probably null	Het
Stap1	T	A	5: 86,244,375 (GRCm39)	F214Y	possibly damaging	Het
Tcerg1	T	A	18: 42,652,600 (GRCm39)	M76K	unknown	Het
Tjp1	A	T	7: 64,963,059 (GRCm39)	Y959*	probably null	Het
Tmprss11e	A	T	5: 86,875,225 (GRCm39)	C14S	probably benign	Het
Tnfrsf14	T	C	4: 155,006,934 (GRCm39)		probably null	Het
Tsfm	A	C	10: 126,847,512 (GRCm39)	V193G	probably benign	Het
Ube2q2l	T	A	6: 136,378,371 (GRCm39)	Y153F	probably benign	Het
Ush2a	A	T	1: 188,175,267 (GRCm39)	I1122L	probably benign	Het
Vmn1r74	T	A	7: 11,580,984 (GRCm39)	S95T	probably damaging	Het
Vmn2r98	G	A	17: 19,290,015 (GRCm39)	C517Y	probably damaging	Het
Vstm2b	G	A	7: 40,550,702 (GRCm39)	S99N	possibly damaging	Het
Zbtb24	A	G	10: 41,327,537 (GRCm39)	N141S	probably benign	Het
Zcchc4	T	G	5: 52,942,512 (GRCm39)	C106G	probably benign	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
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
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'- AGATGGGGTATGCGTCCTTC -3'
(R):5'- CAGCCTATTAAACTGGCCGTC -3'

Sequencing Primer
(F):5'- CCTTTTTCCCTGGCGTGAGTTG -3'
(R):5'- TATTAAACTGGCCGTCAGGGACC -3'

Posted On

2016-09-06