Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01626:Slc45a3'

92755

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc45a3

Ensembl Gene

ENSMUSG00000026435

Gene Name

solute carrier family 45, member 3

Synonyms

Pcanap6, 2210413P12Rik, IPCA-6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01626

Quality Score

Status

Chromosome

Chromosomal Location

131890705-131910707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 131906725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 400 (A400S)

Ref Sequence

ENSEMBL: ENSMUSP00000136190 (fasta)

Gene Model

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

AlphaFold

Q8K0H7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027695
AA Change: A400S

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027695
Gene: ENSMUSG00000026435
AA Change: A400S

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

possibly damaging
Transcript: ENSMUST00000177943
AA Change: A400S

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136190
Gene: ENSMUSG00000026435
AA Change: A400S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,926,595 (GRCm39)	D188G	probably damaging	Het
Aoc1	A	G	6: 48,883,465 (GRCm39)	Y447C	probably damaging	Het
Brd1	A	T	15: 88,585,090 (GRCm39)	L915M	probably damaging	Het
Cacna2d3	T	A	14: 28,665,564 (GRCm39)	E152D	possibly damaging	Het
Dnase2b	A	G	3: 146,290,371 (GRCm39)		probably null	Het
Ecpas	G	A	4: 58,832,814 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,005,181 (GRCm39)	V1860A	probably damaging	Het
Fbxl5	C	A	5: 43,916,047 (GRCm39)	G455V	probably benign	Het
Fpr-rs4	G	A	17: 18,242,493 (GRCm39)	V167M	probably damaging	Het
Fut7	C	A	2: 25,315,343 (GRCm39)	Y153*	probably null	Het
Gnptab	A	G	10: 88,273,357 (GRCm39)	T1045A	probably damaging	Het
Gucy1a1	T	A	3: 82,015,926 (GRCm39)	D354V	probably damaging	Het
Gucy2e	A	G	11: 69,123,681 (GRCm39)	V406A	possibly damaging	Het
Herc2	T	C	7: 55,734,890 (GRCm39)	F160S	probably benign	Het
Ice2	T	G	9: 69,314,614 (GRCm39)	V42G	probably benign	Het
L3mbtl4	A	G	17: 68,937,197 (GRCm39)	Y406C	probably damaging	Het
Lepr	C	T	4: 101,590,731 (GRCm39)	T103I	probably benign	Het
Ly75	T	A	2: 60,131,359 (GRCm39)	M1589L	probably benign	Het
Map4k3	A	G	17: 80,913,238 (GRCm39)	V644A	probably damaging	Het
Micall1	A	G	15: 79,014,712 (GRCm39)	D696G	possibly damaging	Het
Muc4	T	C	16: 32,555,220 (GRCm39)	V8A	possibly damaging	Het
Myo1h	A	G	5: 114,453,027 (GRCm39)	D9G	probably damaging	Het
Nop14	T	A	5: 34,806,689 (GRCm39)	K472*	probably null	Het
Npat	T	A	9: 53,467,871 (GRCm39)	D275E	possibly damaging	Het
Nt5c1b	A	G	12: 10,424,798 (GRCm39)	T115A	probably benign	Het
Or2d3c	A	T	7: 106,526,627 (GRCm39)	I13N	probably benign	Het
Or6n1	A	G	1: 173,917,122 (GRCm39)	N172S	probably damaging	Het
Pnpla7	T	A	2: 24,940,905 (GRCm39)	S1086T	possibly damaging	Het
Pold1	C	T	7: 44,182,796 (GRCm39)		probably null	Het
Ppfia1	A	G	7: 144,035,456 (GRCm39)	F1165L	probably benign	Het
Prlr	T	A	15: 10,328,804 (GRCm39)	D426E	probably benign	Het
Ptgs2	G	A	1: 149,979,478 (GRCm39)	R231H	probably damaging	Het
Rorc	A	G	3: 94,296,094 (GRCm39)	D91G	probably damaging	Het
Scaper	C	T	9: 55,819,335 (GRCm39)	V127M	possibly damaging	Het
Sema3g	A	T	14: 30,943,684 (GRCm39)	Y188F	probably damaging	Het
Slc9b2	C	A	3: 135,042,156 (GRCm39)	H478Q	probably benign	Het
Spg11	T	A	2: 121,891,452 (GRCm39)	H1973L	probably damaging	Het
Srgap3	A	G	6: 112,750,609 (GRCm39)	Y359H	probably damaging	Het
Stx16	T	G	2: 173,935,813 (GRCm39)	I248S	probably damaging	Het
Sytl3	A	G	17: 7,002,839 (GRCm39)	R287G	probably damaging	Het
Tiam1	T	C	16: 89,609,856 (GRCm39)	T82A	probably damaging	Het
Trpm1	T	C	7: 63,918,637 (GRCm39)	L659P	probably damaging	Het
Ttc13	G	A	8: 125,400,477 (GRCm39)		probably benign	Het
Unc80	T	C	1: 66,590,213 (GRCm39)		probably null	Het
Vldlr	G	T	19: 27,221,173 (GRCm39)	R613L	probably damaging	Het
Wdr77	C	T	3: 105,867,002 (GRCm39)	R35*	probably null	Het
Zc3h14	T	G	12: 98,745,445 (GRCm39)	I478R	possibly damaging	Het
Zfp366	A	G	13: 99,364,920 (GRCm39)	H27R	probably damaging	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
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
R1596:Slc45a3	UTSW	1	131,909,267 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-12-09