Mutagenetix > Incidental Mutation

Incidental Mutation 'R1596:Slc45a3'

175779

Institutional Source

Beutler Lab

Gene Symbol

Slc45a3

Ensembl Gene

ENSMUSG00000026435

Gene Name

solute carrier family 45, member 3

Synonyms

Pcanap6, 2210413P12Rik, IPCA-6

MMRRC Submission

039633-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1596 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131890705-131910707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131909267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 488 (I488N)

Ref Sequence

ENSEMBL: ENSMUSP00000136190 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027695] [ENSMUST00000177943] [ENSMUST00000190322]

AlphaFold

Q8K0H7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027695
AA Change: I488N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027695
Gene: ENSMUSG00000026435
AA Change: I488N

Domain	Start	End	E-Value	Type
Pfam:MFS_1	18	306	1.2e-12	PFAM
Pfam:MFS_2	21	408	5.4e-11	PFAM
transmembrane domain	520	542	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000177943
AA Change: I488N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136190
Gene: ENSMUSG00000026435
AA Change: I488N

Domain	Start	End	E-Value	Type
Pfam:MFS_1	18	306	1.5e-12	PFAM
Pfam:MFS_2	19	239	2.4e-13	PFAM
transmembrane domain	320	342	N/A	INTRINSIC
transmembrane domain	355	377	N/A	INTRINSIC
transmembrane domain	382	404	N/A	INTRINSIC
transmembrane domain	520	542	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185387

Predicted Effect

probably benign
Transcript: ENSMUST00000190322

SMART Domains

Protein: ENSMUSP00000140767
Gene: ENSMUSG00000026435

Domain	Start	End	E-Value	Type
Pfam:MFS_2	20	218	3.3e-9	PFAM
Pfam:MFS_1	51	219	1.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191034

Meta Mutation Damage Score

0.4379

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 87.7%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	G	15: 37,426,018 (GRCm39)		probably benign	Het
Abca8a	T	A	11: 109,958,886 (GRCm39)	Y745F	possibly damaging	Het
Abl1	A	G	2: 31,680,350 (GRCm39)	N316S	probably damaging	Het
Ackr2	T	C	9: 121,738,278 (GRCm39)	F218L	probably damaging	Het
Adam6b	T	A	12: 113,454,646 (GRCm39)	Y488N	probably damaging	Het
Arhgap10	A	G	8: 78,177,326 (GRCm39)	I103T	possibly damaging	Het
Atm	A	G	9: 53,364,678 (GRCm39)	V2669A	probably damaging	Het
Atp10b	A	G	11: 43,126,594 (GRCm39)	K1117E	probably damaging	Het
Brinp3	T	C	1: 146,390,520 (GRCm39)	V22A	probably benign	Het
Casp8	G	T	1: 58,870,833 (GRCm39)		probably benign	Het
Ccdc178	T	A	18: 22,153,930 (GRCm39)	K626N	possibly damaging	Het
Clcn6	T	A	4: 148,107,836 (GRCm39)	S193C	probably damaging	Het
Col11a1	C	T	3: 113,946,262 (GRCm39)		probably benign	Het
Csn1s2b	T	A	5: 87,966,917 (GRCm39)		probably benign	Het
Cst5	T	C	2: 149,247,329 (GRCm39)	V15A	unknown	Het
Cttnbp2	A	G	6: 18,408,591 (GRCm39)	F1010S	probably damaging	Het
Dlg2	T	C	7: 92,080,259 (GRCm39)	V614A	probably damaging	Het
Dsg1c	A	G	18: 20,415,104 (GRCm39)	Y667C	probably damaging	Het
Ep400	A	T	5: 110,856,727 (GRCm39)		probably benign	Het
Fam83c	C	T	2: 155,672,982 (GRCm39)		probably null	Het
Fbxw20	C	T	9: 109,050,368 (GRCm39)	C419Y	probably damaging	Het
Fgd2	G	A	17: 29,595,904 (GRCm39)	V521I	probably benign	Het
Frrs1	A	G	3: 116,676,848 (GRCm39)		probably benign	Het
Gli3	C	A	13: 15,900,056 (GRCm39)	Q1148K	possibly damaging	Het
Hdac5	G	T	11: 102,095,482 (GRCm39)		probably null	Het
Ice1	C	T	13: 70,753,014 (GRCm39)	R1024H	possibly damaging	Het
Irak3	A	T	10: 120,018,451 (GRCm39)	I99N	probably damaging	Het
Klhl31	A	G	9: 77,557,356 (GRCm39)	D24G	probably damaging	Het
Lrba	C	T	3: 86,257,611 (GRCm39)	Q1292*	probably null	Het
Map1a	C	T	2: 121,120,246 (GRCm39)	A44V	probably benign	Het
Mbd2	T	A	18: 70,749,703 (GRCm39)	M306K	probably damaging	Het
Mrc1	C	T	2: 14,253,701 (GRCm39)	H241Y	possibly damaging	Het
Mrgprg	A	G	7: 143,318,431 (GRCm39)	F227S	possibly damaging	Het
Ncapg2	T	A	12: 116,382,856 (GRCm39)	L229H	probably damaging	Het
Ncf4	G	A	15: 78,134,637 (GRCm39)	E30K	probably damaging	Het
Nlrp4c	C	A	7: 6,069,777 (GRCm39)	D559E	probably benign	Het
Nxpe4	T	A	9: 48,307,855 (GRCm39)	W320R	probably damaging	Het
Or10a3n	T	A	7: 108,493,086 (GRCm39)	H176L	probably damaging	Het
Or52n4b	T	A	7: 108,144,290 (GRCm39)	M184K	possibly damaging	Het
Or6z5	T	C	7: 6,477,514 (GRCm39)	L135P	probably damaging	Het
Pdzrn3	A	G	6: 101,127,966 (GRCm39)	V900A	probably benign	Het
Prcp	T	C	7: 92,567,042 (GRCm39)		probably benign	Het
Prkaa2	A	T	4: 104,893,526 (GRCm39)	D474E	probably damaging	Het
Prl3a1	A	G	13: 27,443,600 (GRCm39)		probably benign	Het
Ptpra	T	A	2: 130,386,872 (GRCm39)	Y624N	probably damaging	Het
Ramp1	T	C	1: 91,151,022 (GRCm39)	V129A	possibly damaging	Het
Reep1	G	T	6: 71,733,421 (GRCm39)		probably null	Het
Robo3	C	T	9: 37,335,928 (GRCm39)		probably null	Het
Sapcd2	T	A	2: 25,266,422 (GRCm39)	I403N	probably damaging	Het
Sdk2	T	A	11: 113,729,435 (GRCm39)		probably benign	Het
Serpinb3a	T	C	1: 106,974,904 (GRCm39)	M210V	probably benign	Het
Tnrc6c	C	T	11: 117,648,867 (GRCm39)	P1513S	probably damaging	Het
Trank1	T	A	9: 111,195,358 (GRCm39)	H1127Q	possibly damaging	Het
Trim67	T	C	8: 125,552,878 (GRCm39)	V660A	probably damaging	Het
Ubash3b	A	G	9: 40,942,793 (GRCm39)	I233T	probably benign	Het
Unkl	A	G	17: 25,424,707 (GRCm39)	R245G	probably null	Het

Other mutations in Slc45a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Slc45a3	APN	1	131,905,265 (GRCm39)	missense	probably damaging	0.98
IGL01626:Slc45a3	APN	1	131,906,725 (GRCm39)	missense	possibly damaging	0.73
IGL01677:Slc45a3	APN	1	131,906,708 (GRCm39)	missense	probably damaging	0.99
F6893:Slc45a3	UTSW	1	131,909,075 (GRCm39)	missense	probably benign
R0122:Slc45a3	UTSW	1	131,905,478 (GRCm39)	missense	probably damaging	1.00
R0402:Slc45a3	UTSW	1	131,905,265 (GRCm39)	missense	possibly damaging	0.85
R1647:Slc45a3	UTSW	1	131,905,262 (GRCm39)	missense	probably damaging	1.00
R1752:Slc45a3	UTSW	1	131,905,259 (GRCm39)	missense	probably damaging	1.00
R1771:Slc45a3	UTSW	1	131,904,694 (GRCm39)	missense	possibly damaging	0.51
R1776:Slc45a3	UTSW	1	131,904,694 (GRCm39)	missense	possibly damaging	0.51
R2071:Slc45a3	UTSW	1	131,905,370 (GRCm39)	missense	probably damaging	1.00
R2939:Slc45a3	UTSW	1	131,905,637 (GRCm39)	missense	probably damaging	1.00
R4230:Slc45a3	UTSW	1	131,909,399 (GRCm39)	missense	probably damaging	0.96
R4876:Slc45a3	UTSW	1	131,909,285 (GRCm39)	missense	possibly damaging	0.48
R4906:Slc45a3	UTSW	1	131,909,315 (GRCm39)	missense	probably damaging	1.00
R5265:Slc45a3	UTSW	1	131,905,932 (GRCm39)	missense	possibly damaging	0.46
R5964:Slc45a3	UTSW	1	131,905,811 (GRCm39)	missense	probably damaging	0.98
R6849:Slc45a3	UTSW	1	131,905,702 (GRCm39)	missense	probably damaging	1.00
R7483:Slc45a3	UTSW	1	131,904,549 (GRCm39)	start gained	probably benign
R8104:Slc45a3	UTSW	1	131,904,754 (GRCm39)	missense	probably benign	0.29
R8322:Slc45a3	UTSW	1	131,905,523 (GRCm39)	missense	probably damaging	0.99
R8333:Slc45a3	UTSW	1	131,905,928 (GRCm39)	missense	probably damaging	1.00
R9011:Slc45a3	UTSW	1	131,905,714 (GRCm39)	missense	probably benign	0.02
R9035:Slc45a3	UTSW	1	131,909,187 (GRCm39)	frame shift	probably null
R9101:Slc45a3	UTSW	1	131,905,175 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- TGTCATATACGGGAATCCCCGCAC -3'
(R):5'- TCTAAGGGCTGAGAACCCATGAGG -3'

Sequencing Primer
(F):5'- TGTTCCTGCCCAAATACCGAG -3'
(R):5'- GAGGCAGACCCTCTCTTTGATG -3'

Posted On

2014-04-24