Mutagenetix > Incidental Mutation

Incidental Mutation 'R4230:Slc45a3'

320763

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

041049-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4230 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131890705-131910707 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131909399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 532 (L532Q)

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: L532Q

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027695
Gene: ENSMUSG00000026435
AA Change: L532Q

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: L532Q

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136190
Gene: ENSMUSG00000026435
AA Change: L532Q

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Alg11	T	A	8: 22,555,534 (GRCm39)	I223N	probably damaging	Het
Ankrd26	G	C	6: 118,536,349 (GRCm39)		probably null	Het
Apbb1	T	C	7: 105,216,891 (GRCm39)	D264G	probably damaging	Het
Arhgap32	T	C	9: 32,168,770 (GRCm39)	Y918H	probably benign	Het
Astn2	T	G	4: 65,829,919 (GRCm39)	T584P	probably damaging	Het
Atxn7	G	A	14: 14,100,381 (GRCm38)	S689N	probably benign	Het
Cacna1h	T	C	17: 25,606,837 (GRCm39)	N873S	probably damaging	Het
Cadps	T	A	14: 12,488,987 (GRCm38)	I857F	probably damaging	Het
Cfap119	T	A	7: 127,186,002 (GRCm39)	M102L	probably benign	Het
Cog6	T	C	3: 52,900,229 (GRCm39)	T511A	probably benign	Het
Dppa3	A	T	6: 122,606,291 (GRCm39)	N118I	probably damaging	Het
Dst	A	G	1: 34,234,909 (GRCm39)	N3663D	probably benign	Het
Eif1ad14	A	T	12: 87,886,567 (GRCm39)	S21T	unknown	Het
Eme1	G	A	11: 94,538,818 (GRCm39)	T354M	possibly damaging	Het
Gm10735	T	C	13: 113,177,743 (GRCm39)		probably benign	Het
Ifi44l	A	T	3: 151,468,514 (GRCm39)	C5*	probably null	Het
Itln1	G	A	1: 171,362,375 (GRCm39)	T2I	probably benign	Het
Jam2	T	A	16: 84,618,180 (GRCm39)	M309K	possibly damaging	Het
Kcnk5	C	A	14: 20,194,852 (GRCm39)	C162F	probably damaging	Het
Metrn	A	G	17: 26,015,915 (GRCm39)		probably benign	Het
Muc5b	T	A	7: 141,417,259 (GRCm39)	Y3402N	probably benign	Het
Ncoa7	A	T	10: 30,574,253 (GRCm39)		probably null	Het
Nxpe4	A	G	9: 48,304,122 (GRCm39)	R70G	possibly damaging	Het
Onecut3	T	C	10: 80,349,793 (GRCm39)	I429T	probably damaging	Het
Or2n1	A	C	17: 38,486,772 (GRCm39)	I266L	possibly damaging	Het
Or2z9	T	C	8: 72,854,188 (GRCm39)	Y195H	probably damaging	Het
Or4k37	T	G	2: 111,159,475 (GRCm39)	L237R	probably damaging	Het
Or52e18	A	T	7: 104,609,801 (GRCm39)	I46N	probably benign	Het
Pds5a	A	G	5: 65,787,329 (GRCm39)	S858P	possibly damaging	Het
Phf11c	A	T	14: 59,630,516 (GRCm39)	V63E	probably benign	Het
Rasa3	A	G	8: 13,620,264 (GRCm39)	F802L	possibly damaging	Het
Sec24b	G	T	3: 129,834,368 (GRCm39)	Q141K	probably benign	Het
Sec61a1	A	T	6: 88,492,413 (GRCm39)		probably null	Het
Slc46a2	T	C	4: 59,914,048 (GRCm39)	I292V	probably benign	Het
Smg1	C	T	7: 117,747,956 (GRCm39)		probably null	Het
Spag6	T	A	2: 18,720,449 (GRCm39)		probably null	Het
Spi1	T	C	2: 90,945,680 (GRCm39)	F254L	probably damaging	Het
Sspo	T	C	6: 48,467,868 (GRCm39)	S4272P	probably benign	Het
Tgm5	T	C	2: 120,901,216 (GRCm39)	T292A	probably damaging	Het
Tmem229a	T	A	6: 24,954,831 (GRCm39)	I308F	probably damaging	Het
Ttn	T	C	2: 76,554,464 (GRCm39)	I30784V	possibly damaging	Het
Urod	T	A	4: 116,849,880 (GRCm39)	T173S	probably benign	Het
Vmn1r223	A	T	13: 23,433,585 (GRCm39)	M60L	probably benign	Het
Vmn2r2	T	A	3: 64,041,912 (GRCm39)	I268L	probably benign	Het
Vwa8	C	T	14: 79,320,292 (GRCm39)	T1101M	probably benign	Het
Zc3h12c	T	A	9: 52,055,728 (GRCm39)		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
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
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'- TCTTCCCCAATGGACACGTG -3'
(R):5'- TACACCTCACTGCCTTAGGGTG -3'

Sequencing Primer
(F):5'- AATGGACACGTGGGCTCTG -3'
(R):5'- CCTTAGGGTGGCAGCAGAG -3'

Posted On

2015-06-12