Mutagenetix > Incidental Mutation

Incidental Mutation 'R5265:Slc45a3'

401628

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

042833-MU

Accession Numbers

Genbank: NM_145977; MGI: 1922082

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5265 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131962967-131982969 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131978194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 318 (D318E)

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: D318E

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027695
Gene: ENSMUSG00000026435
AA Change: D318E

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: D318E

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136190
Gene: ENSMUSG00000026435
AA Change: D318E

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

0.0746

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,258,894	W66R	probably damaging	Het
Adamts3	A	G	5: 89,861,552	V84A	possibly damaging	Het
Caap1	C	A	4: 94,501,228	E290*	probably null	Het
Cant1	G	A	11: 118,408,050	R296C	probably damaging	Het
Ccdc114	T	A	7: 45,947,435	D395E	probably damaging	Het
Cdh5	A	T	8: 104,142,739	H699L	probably benign	Het
Cfdp1	T	C	8: 111,830,985	T175A	probably benign	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Comtd1	G	A	14: 21,848,793	T27I	probably benign	Het
Copg1	T	A	6: 87,892,270	V155D	probably damaging	Het
Dag1	A	G	9: 108,207,699	Y748H	possibly damaging	Het
Dmwd	T	A	7: 19,080,281	N285K	possibly damaging	Het
Dsp	A	G	13: 38,195,183	E1968G	possibly damaging	Het
Ednra	A	G	8: 77,667,375	I364T	probably damaging	Het
Elovl3	C	A	19: 46,134,681	T232K	probably damaging	Het
Ercc3	T	A	18: 32,254,243	I503N	probably damaging	Het
Ercc6	C	A	14: 32,569,623	A1008D	probably benign	Het
Gm10563	TTTC	TTTCATTC	4: 155,614,496		probably null	Het
H2-DMb2	G	T	17: 34,148,562	V117F	probably damaging	Het
Helt	A	T	8: 46,292,433	W138R	probably damaging	Het
Itga11	A	T	9: 62,737,412	H215L	probably benign	Het
Kcnn1	T	A	8: 70,854,653	I156F	probably benign	Het
Kdm1b	A	G	13: 47,062,969	N272D	probably benign	Het
Kdm2b	T	C	5: 122,878,588	T1161A	probably damaging	Het
Lin54	A	G	5: 100,485,519	L102P	probably damaging	Het
Mlh1	A	C	9: 111,271,523	M1R	probably null	Het
Naip2	G	A	13: 100,152,560	L1165F	probably damaging	Het
Nfkbiz	A	G	16: 55,819,641	S118P	probably damaging	Het
Nkx3-2	T	A	5: 41,761,848	M266L	probably benign	Het
Npr1	T	C	3: 90,457,002	E771G	probably benign	Het
Obox8	C	T	7: 14,332,029	R188H	probably benign	Het
Olfr187	A	T	16: 59,036,143	V198D	possibly damaging	Het
Olfr497	T	A	7: 108,423,402	V277E	possibly damaging	Het
Palm3	T	C	8: 84,021,530		probably null	Het
Palmd	A	T	3: 116,923,849	V333D	possibly damaging	Het
Pikfyve	A	G	1: 65,267,829	E1747G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ranbp3l	T	A	15: 9,007,203	F127I	probably benign	Het
Rsl1d1	A	G	16: 11,201,384	F97L	possibly damaging	Het
Scaper	A	G	9: 55,864,546	V362A	probably benign	Het
Scg5	A	T	2: 113,776,865	L192*	probably null	Het
Slc34a2	T	C	5: 53,061,434	I198T	probably damaging	Het
Sorl1	A	G	9: 42,106,516	M105T	possibly damaging	Het
St3gal5	T	A	6: 72,149,131	I320N	probably damaging	Het
Stx17	A	G	4: 48,183,470		probably benign	Het
Syt5	C	T	7: 4,541,075		probably null	Het
Thrap3	A	G	4: 126,167,640	S774P	probably damaging	Het
Tnc	A	T	4: 63,993,206	M1376K	probably benign	Het
Tnks1bp1	T	A	2: 85,062,754	D1008E	probably benign	Het
Trav7-1	G	T	14: 52,655,304	A105S	probably damaging	Het
Vmn1r28	T	A	6: 58,265,964	V264D	probably damaging	Het
Vmn1r44	T	C	6: 89,893,839	V46A	probably benign	Het
Vmn2r10	A	G	5: 108,995,720	I788T	probably damaging	Het
Vmn2r78	T	A	7: 86,920,124	I75N	probably damaging	Het
Zfp821	T	C	8: 109,724,359	M328T	probably damaging	Het
Zfp995	G	A	17: 21,880,623	P210L	possibly 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
R4876:Slc45a3	UTSW	1	131981547	missense	possibly damaging	0.48
R4906:Slc45a3	UTSW	1	131981577	missense	probably damaging	1.00
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'- GCTTTCCGGAATCTGGGTAC -3'
(R):5'- ATAGACCTAGAAGCCCTACTGAG -3'

Sequencing Primer
(F):5'- TGTTTCCCCGGCTGCAG -3'
(R):5'- CAGCAGCAGTGTTCATGAGCTAC -3'

Posted On

2016-07-06