Mutagenetix > Incidental Mutation

Incidental Mutation 'R4876:Slc45a3'

376845

Institutional Source

Beutler Lab

Gene Symbol

Slc45a3

Ensembl Gene

ENSMUSG00000026435

Gene Name

solute carrier family 45, member 3

Synonyms

2210413P12Rik, Pcanap6, IPCA-6

MMRRC Submission

042485-MU

Accession Numbers

Genbank: NM_145977; MGI: 1922082

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131962967-131982969 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131981547 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 494 (I494T)

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: I494T

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027695
Gene: ENSMUSG00000026435
AA Change: I494T

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: I494T

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136190
Gene: ENSMUSG00000026435
AA Change: I494T

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

0.1247

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

99% (97/98)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	C	T	9: 94,537,577	R100H	probably damaging	Het
4930562C15Rik	T	C	16: 4,849,672	F309S	unknown	Het
9530053A07Rik	A	T	7: 28,142,800		probably benign	Het
A630001G21Rik	C	T	1: 85,719,040	V167M	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Ano4	A	G	10: 89,112,835	F138L	probably damaging	Het
Aoc1	T	C	6: 48,906,747	V519A	possibly damaging	Het
Arhgef37	A	T	18: 61,498,239	Y558*	probably null	Het
Atxn3	T	A	12: 101,948,379	S29C	probably damaging	Het
Bbs2	T	C	8: 94,070,160		probably benign	Het
BC052040	A	C	2: 115,670,058	H159P	probably damaging	Het
Bicral	A	T	17: 46,825,576	I236N	probably damaging	Het
Cabcoco1	A	G	10: 68,541,769	V30A	probably benign	Het
Cap2	A	G	13: 46,531,021	M1V	probably null	Het
Ccdc153	T	C	9: 44,241,008	M1T	probably null	Het
Ccnf	A	T	17: 24,230,337	V489D	probably damaging	Het
Cntnap3	T	C	13: 64,787,706	T448A	probably benign	Het
Cpa4	G	A	6: 30,590,815	D371N	probably benign	Het
Csl	T	A	10: 99,758,540	Y221F	possibly damaging	Het
Dalrd3	T	C	9: 108,571,436		probably benign	Het
Dennd4a	T	A	9: 64,896,590	N1070K	probably benign	Het
Dmwd	A	T	7: 19,080,547	D374V	probably damaging	Het
Eea1	G	T	10: 95,995,613	A189S	probably benign	Het
Fasn	A	G	11: 120,812,312	V1629A	probably damaging	Het
Fndc1	T	C	17: 7,771,639	D1075G	unknown	Het
Fsip2	A	G	2: 82,974,858	N507S	possibly damaging	Het
Gabra5	T	G	7: 57,413,665	E337A	probably damaging	Het
Gsg1l	A	G	7: 125,891,669	Y288H	probably benign	Het
H2-M11	A	T	17: 36,547,509	D65V	probably benign	Het
Hmgxb3	A	T	18: 61,146,534	C736S	possibly damaging	Het
Hsd3b3	A	T	3: 98,742,644	I121N	probably damaging	Het
Ikbke	GCC	G	1: 131,275,267		probably null	Het
Il16	A	C	7: 83,673,094	S338A	probably benign	Het
Itpr1	G	A	6: 108,482,906	A2054T	probably damaging	Het
Lamp3	T	A	16: 19,655,470	I385F	probably damaging	Het
Limch1	G	A	5: 66,881,927	V66I	possibly damaging	Het
Lmod2	A	G	6: 24,604,279	R418G	probably benign	Het
Ly6g6c	A	T	17: 35,069,440	D96V	probably damaging	Het
Map2k2	G	A	10: 81,115,113	V131M	probably damaging	Het
Mapk9	T	C	11: 49,854,325	V22A	probably damaging	Het
Mettl2	T	C	11: 105,129,068	I177T	probably damaging	Het
Mob4	C	T	1: 55,152,836		probably benign	Het
Mybpc1	T	C	10: 88,522,991	I1113V	probably benign	Het
Mybpc1	A	T	10: 88,536,424	N781K	probably benign	Het
Myom1	A	G	17: 71,077,410	T707A	probably damaging	Het
Ncam2	G	A	16: 81,490,346	A383T	probably benign	Het
Nomo1	T	C	7: 46,066,491	S761P	probably damaging	Het
Nsd3	T	A	8: 25,691,134	S921T	possibly damaging	Het
Olfr268-ps1	C	G	2: 111,844,695		noncoding transcript	Het
Olfr934	A	T	9: 38,982,626	C139*	probably null	Het
Olfr985	C	T	9: 40,127,218	V248I	probably damaging	Het
Omp	A	T	7: 98,145,026	D131E	probably benign	Het
Pard3	T	C	8: 127,561,469		probably benign	Het
Parg	A	G	14: 32,271,668	T286A	probably damaging	Het
Parp1	T	A	1: 180,569,035	M1K	probably null	Het
Pclo	T	A	5: 14,811,680	S4882R	unknown	Het
Pcnx2	C	T	8: 125,772,108	E1551K	probably damaging	Het
Pcyox1l	A	G	18: 61,699,494	Y161H	probably damaging	Het
Pdzd8	A	T	19: 59,300,804	C721*	probably null	Het
Piwil4	T	C	9: 14,740,465	D90G	probably benign	Het
Plxdc2	T	A	2: 16,703,318	C306S	probably damaging	Het
Plxna2	T	A	1: 194,643,775	F6I	probably benign	Het
Prkaa1	T	C	15: 5,174,405	M265T	probably benign	Het
Prrc2b	T	C	2: 32,214,200	V1230A	probably benign	Het
Rfx2	T	C	17: 56,784,706	E329G	probably benign	Het
Scg2	T	C	1: 79,435,919	I322M	probably damaging	Het
Scly	T	A	1: 91,320,128	N399K	probably damaging	Het
Sec23b	T	A	2: 144,586,361		probably null	Het
Sephs2	A	T	7: 127,273,047	Y291*	probably null	Het
Slc6a21	C	A	7: 45,280,111	Y76*	probably null	Het
Slfn14	T	A	11: 83,276,272	I806L	possibly damaging	Het
Slfn4	T	A	11: 83,187,018	S211T	probably benign	Het
Sptbn4	A	G	7: 27,372,152	V1624A	probably damaging	Het
Sugp1	T	A	8: 70,071,184	M567K	probably damaging	Het
Tmem121	A	T	12: 113,188,728	M189L	probably benign	Het
Tmem201	A	G	4: 149,722,270	S444P	probably damaging	Het
Tmem63a	T	C	1: 180,973,186	V744A	probably benign	Het
Tnrc18	G	A	5: 142,731,625	S2358F	unknown	Het
Ubash3b	A	G	9: 41,018,109	V404A	probably benign	Het
Unc13c	A	T	9: 73,749,539	C1127S	probably damaging	Het
Unc5a	T	C	13: 54,997,229	V253A	probably benign	Het
Vmn1r-ps123	C	T	13: 22,996,365		noncoding transcript	Het
Wdr74	A	G	19: 8,739,485	E253G	possibly damaging	Het
Wwox	T	C	8: 114,448,248	Y107H	probably damaging	Het
Zdhhc22	A	T	12: 86,988,238	Y147N	probably damaging	Het
Zfp131	T	C	13: 119,788,955	H44R	possibly damaging	Het
Zfp235	A	G	7: 24,140,959	T268A	probably benign	Het
Zfp280d	T	C	9: 72,298,858		probably benign	Het
Zfp358	T	C	8: 3,496,170	S251P	probably damaging	Het

Other mutations in Slc45a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00962:Slc45a3	APN	1	131977527	missense	probably damaging	0.98
IGL01626:Slc45a3	APN	1	131978987	missense	possibly damaging	0.73
IGL01677:Slc45a3	APN	1	131978970	missense	probably damaging	0.99
F6893:Slc45a3	UTSW	1	131981337	missense	probably benign
R0122:Slc45a3	UTSW	1	131977740	missense	probably damaging	1.00
R0402:Slc45a3	UTSW	1	131977527	missense	possibly damaging	0.85
R1596:Slc45a3	UTSW	1	131981529	missense	probably damaging	1.00
R1647:Slc45a3	UTSW	1	131977524	missense	probably damaging	1.00
R1752:Slc45a3	UTSW	1	131977521	missense	probably damaging	1.00
R1771:Slc45a3	UTSW	1	131976956	missense	possibly damaging	0.51
R1776:Slc45a3	UTSW	1	131976956	missense	possibly damaging	0.51
R2071:Slc45a3	UTSW	1	131977632	missense	probably damaging	1.00
R2939:Slc45a3	UTSW	1	131977899	missense	probably damaging	1.00
R4230:Slc45a3	UTSW	1	131981661	missense	probably damaging	0.96
R4906:Slc45a3	UTSW	1	131981577	missense	probably damaging	1.00
R5265:Slc45a3	UTSW	1	131978194	missense	possibly damaging	0.46
R5964:Slc45a3	UTSW	1	131978073	missense	probably damaging	0.98
R6849:Slc45a3	UTSW	1	131977964	missense	probably damaging	1.00
R7483:Slc45a3	UTSW	1	131976811	start gained	probably benign
R8104:Slc45a3	UTSW	1	131977016	missense	probably benign	0.29
R8322:Slc45a3	UTSW	1	131977785	missense	probably damaging	0.99
R8333:Slc45a3	UTSW	1	131978190	missense	probably damaging	1.00
R9011:Slc45a3	UTSW	1	131977976	missense	probably benign	0.02
R9035:Slc45a3	UTSW	1	131981449	frame shift	probably null
R9101:Slc45a3	UTSW	1	131977437	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- AGCCAGACAACCAGCTTCTTG -3'
(R):5'- GCCTTACACAATTCTACACTGAG -3'

Sequencing Primer
(F):5'- AACCAGCTTCTTGCCAGG -3'
(R):5'- CTACACTGAGTATTTGGCCAAGTCG -3'

Posted On

2016-03-17