Mutagenetix > Incidental Mutation

Incidental Mutation 'R8097:Slc24a1'

630246

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

067529-MU

Accession Numbers

Essential gene?

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

Stock #

R8097 (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 64831734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1121 (D1121G)

Ref Sequence

ENSEMBL: ENSMUSP00000035616 (fasta)

Gene Model

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

AlphaFold

Q91WD8

Predicted Effect

probably damaging
Transcript: ENSMUST00000037798
AA Change: D1121G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035616
Gene: ENSMUSG00000034452
AA Change: D1121G

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

Meta Mutation Damage Score

0.5538

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,805,394 (GRCm39)	M749I	probably benign	Het
Adcy8	A	T	15: 64,743,711 (GRCm39)		probably null	Het
Adgrb2	G	A	4: 129,901,690 (GRCm39)	C438Y	probably damaging	Het
Amn1	G	A	6: 149,070,853 (GRCm39)		probably benign	Het
Atxn2	C	T	5: 121,887,286 (GRCm39)	R319W	probably damaging	Het
Ccdc162	T	C	10: 41,510,115 (GRCm39)	E830G	probably benign	Het
Ccdc71	T	C	9: 108,340,751 (GRCm39)	V188A	probably benign	Het
Ceacam11	A	T	7: 17,709,455 (GRCm39)	R218*	probably null	Het
Col18a1	A	C	10: 76,948,342 (GRCm39)	L390R	unknown	Het
Cps1	A	G	1: 67,267,429 (GRCm39)	N1399S	probably benign	Het
Ctnnal1	T	C	4: 56,847,845 (GRCm39)	E98G	probably damaging	Het
Cyp1a2	T	A	9: 57,586,836 (GRCm39)		probably null	Het
Cyp2d11	C	A	15: 82,274,581 (GRCm39)		probably null	Het
Cyp2j7	G	A	4: 96,103,647 (GRCm39)	T296I	possibly damaging	Het
Dcc	C	T	18: 71,812,573 (GRCm39)	G407D	probably damaging	Het
E330034G19Rik	T	C	14: 24,356,920 (GRCm39)	L217S	unknown	Het
Eea1	A	G	10: 95,862,516 (GRCm39)	K813E	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Etf1	T	C	18: 35,064,697 (GRCm39)	D4G	probably benign	Het
F830045P16Rik	T	C	2: 129,305,505 (GRCm39)	T290A	possibly damaging	Het
Filip1	T	C	9: 79,725,541 (GRCm39)	D1026G	probably benign	Het
Flad1	A	T	3: 89,316,442 (GRCm39)	L40H	probably damaging	Het
Fpr3	C	A	17: 18,191,054 (GRCm39)	N108K	probably damaging	Het
Galntl6	A	G	8: 58,415,407 (GRCm39)		probably null	Het
Hmgcll1	T	C	9: 75,922,421 (GRCm39)	L22P	probably benign	Het
Iars2	C	T	1: 185,061,586 (GRCm39)		probably benign	Het
Ifna15	A	T	4: 88,475,938 (GRCm39)	L182Q	probably benign	Het
Kcna6	A	T	6: 126,715,575 (GRCm39)	V438E	probably damaging	Het
Kcnma1	T	A	14: 23,381,032 (GRCm39)	D1012V	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lama2	G	A	10: 27,066,660 (GRCm39)	Q1074*	probably null	Het
Lhx9	T	C	1: 138,766,089 (GRCm39)	Y242C	probably damaging	Het
Lrrc37a	T	A	11: 103,394,925 (GRCm39)	I167F	probably benign	Het
Lrrc49	T	A	9: 60,522,331 (GRCm39)	T351S	probably benign	Het
Lrrc56	A	G	7: 140,775,819 (GRCm39)		probably null	Het
Mlh1	C	A	9: 111,085,160 (GRCm39)		probably null	Het
Msh4	C	T	3: 153,583,545 (GRCm39)		probably null	Het
Nav2	A	G	7: 49,237,525 (GRCm39)	D1999G	probably damaging	Het
Ncapd2	A	T	6: 125,145,945 (GRCm39)	I1272K	possibly damaging	Het
Neurl1a	A	G	19: 47,245,958 (GRCm39)	D530G	probably damaging	Het
Nid2	T	C	14: 19,848,657 (GRCm39)	V1019A	possibly damaging	Het
Nlrp2	A	T	7: 5,330,650 (GRCm39)	L582Q	probably damaging	Het
Or1o4	A	T	17: 37,590,818 (GRCm39)	Y164*	probably null	Het
Or4c121	A	T	2: 89,023,976 (GRCm39)	I134N	probably damaging	Het
Or51a39	A	G	7: 102,363,197 (GRCm39)	V141A	possibly damaging	Het
Or8k1	A	T	2: 86,048,010 (GRCm39)	F15I	probably damaging	Het
Pde6c	G	T	19: 38,150,414 (GRCm39)	E520*	probably null	Het
Pdzk1	C	T	3: 96,757,556 (GRCm39)	T4I	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rap1gap	G	T	4: 137,455,597 (GRCm39)	V667F	probably benign	Het
Recql	A	T	6: 142,320,637 (GRCm39)	I137N	probably damaging	Het
Ryr2	T	C	13: 11,960,881 (GRCm39)	E19G	probably damaging	Het
Ryr3	T	C	2: 112,500,615 (GRCm39)		probably null	Het
Six1	A	G	12: 73,090,524 (GRCm39)	S214P	possibly damaging	Het
Slc30a6	T	A	17: 74,719,693 (GRCm39)	C218S	possibly damaging	Het
Spata31e1	T	A	13: 49,943,676 (GRCm39)	M1L	probably benign	Het
Stab2	T	C	10: 86,704,959 (GRCm39)	D1803G	possibly damaging	Het
Sult2a3	A	T	7: 13,816,635 (GRCm39)	V181E	possibly damaging	Het
Ubc	C	T	5: 125,466,982 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,596,800 (GRCm39)	N870S	probably benign	Het
Vmn1r225	A	G	17: 20,722,611 (GRCm39)	I17M	possibly damaging	Het
Vps13b	T	C	15: 35,709,492 (GRCm39)	I1813T	probably benign	Het
Wdr11	C	T	7: 129,209,611 (GRCm39)	P473L	probably damaging	Het
Zcchc4	T	A	5: 52,953,333 (GRCm39)	I114N	probably benign	Het
Zfp516	C	A	18: 83,005,295 (GRCm39)	S733*	probably null	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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'- ATGACAGTCACCTCTGAGGGTC -3'
(R):5'- AACATGGCCACCGTTCGTAC -3'

Sequencing Primer
(F):5'- TCACCTCTGAGGGTCTACGC -3'
(R):5'- TCATCAATGCGCTGCAGC -3'

Posted On

2020-06-30