Mutagenetix > Incidental Mutation

Incidental Mutation 'R4713:Slc49a3'

353357

Institutional Source

Beutler Lab

Gene Symbol

Slc49a3

Ensembl Gene

ENSMUSG00000029490

Gene Name

solute carrier family 49 member 3

Synonyms

Mfsd7, 4732482E20Rik, Mfsd7a

MMRRC Submission

041601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R4713 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

108588920-108596966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108589945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 486 (T486A)

Ref Sequence

ENSEMBL: ENSMUSP00000031455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031455]

AlphaFold

Q8CE47

Predicted Effect

probably damaging
Transcript: ENSMUST00000031455
AA Change: T486A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031455
Gene: ENSMUSG00000029490
AA Change: T486A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	36	396	8.9e-23	PFAM
transmembrane domain	423	445	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	G	T	1: 25,586,613 (GRCm39)	T360K	probably damaging	Het
AW551984	T	C	9: 39,508,449 (GRCm39)	K356E	probably benign	Het
Bpifb2	T	A	2: 153,723,113 (GRCm39)	V123E	probably damaging	Het
Cacna1a	T	G	8: 85,276,143 (GRCm39)	F532V	probably damaging	Het
Cct8	C	A	16: 87,284,576 (GRCm39)	E204*	probably null	Het
Cd163	T	A	6: 124,294,577 (GRCm39)		probably null	Het
Cep152	C	A	2: 125,429,868 (GRCm39)	A685S	possibly damaging	Het
Chdh	A	G	14: 29,758,798 (GRCm39)	D581G	probably benign	Het
Cnpy3	A	C	17: 47,058,391 (GRCm39)	Y77*	probably null	Het
Col5a3	T	C	9: 20,704,870 (GRCm39)	E762G	unknown	Het
Creb3	A	G	4: 43,563,247 (GRCm39)	T115A	probably benign	Het
Dlat	G	T	9: 50,555,781 (GRCm39)	A412E	probably benign	Het
Dnah2	T	C	11: 69,367,514 (GRCm39)	N1789S	probably damaging	Het
Dzank1	C	T	2: 144,333,724 (GRCm39)	E370K	probably benign	Het
Eif3m	A	T	2: 104,837,184 (GRCm39)		probably null	Het
Gimap8	A	T	6: 48,635,920 (GRCm39)	M562L	probably benign	Het
Gprc6a	T	A	10: 51,507,553 (GRCm39)		probably benign	Het
Gsr	T	G	8: 34,170,347 (GRCm39)		probably null	Het
Gstcd	A	G	3: 132,688,860 (GRCm39)	V630A	probably damaging	Het
Hip1r	T	C	5: 124,128,043 (GRCm39)	I116T	probably benign	Het
Hivep3	A	G	4: 119,989,000 (GRCm39)	E1817G	probably damaging	Het
Inpp5f	A	C	7: 128,265,449 (GRCm39)	T135P	probably damaging	Het
Ism2	A	G	12: 87,331,801 (GRCm39)		silent	Het
Itga11	A	G	9: 62,673,070 (GRCm39)	D784G	probably damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Itpr2	T	C	6: 146,298,456 (GRCm39)	E10G	probably damaging	Het
Knl1	A	T	2: 118,899,618 (GRCm39)	K440*	probably null	Het
Lonp2	T	C	8: 87,439,943 (GRCm39)	S648P	probably damaging	Het
Lrba	T	C	3: 86,267,175 (GRCm39)	S1622P	probably benign	Het
Lrp2	G	T	2: 69,318,310 (GRCm39)	A2047D	probably damaging	Het
Mcm3	G	A	1: 20,873,801 (GRCm39)	T773I	probably benign	Het
Mki67	A	G	7: 135,297,198 (GRCm39)	V2612A	probably benign	Het
Mnx1	C	A	5: 29,683,129 (GRCm39)	G49W	probably damaging	Het
Muc5b	T	A	7: 141,402,816 (GRCm39)	Y673*	probably null	Het
Myo15a	A	G	11: 60,370,756 (GRCm39)	H1172R	probably benign	Het
Myo1g	T	C	11: 6,466,080 (GRCm39)	K363R	probably null	Het
Ncoa4	T	A	14: 31,898,598 (GRCm39)	C473S	probably benign	Het
Nefh	T	C	11: 4,889,656 (GRCm39)	T988A	unknown	Het
Nwd2	T	A	5: 63,961,803 (GRCm39)	D462E	probably benign	Het
Or2av9	T	C	11: 58,380,913 (GRCm39)	T223A	probably benign	Het
Pira13	G	T	7: 3,825,680 (GRCm39)	Y396*	probably null	Het
Plec	T	C	15: 76,065,267 (GRCm39)	E1466G	unknown	Het
Prl3d2	G	T	13: 27,306,379 (GRCm39)	M35I	probably benign	Het
Reln	T	A	5: 22,357,461 (GRCm39)	I202F	probably benign	Het
Rhot1	T	A	11: 80,116,428 (GRCm39)	D78E	probably benign	Het
Rsph3b	T	C	17: 7,172,528 (GRCm39)		probably null	Het
Scn10a	C	T	9: 119,438,717 (GRCm39)	M1717I	probably damaging	Het
Sema6a	T	A	18: 47,382,363 (GRCm39)	H728L	possibly damaging	Het
Slc26a3	G	T	12: 31,507,079 (GRCm39)	A345S	possibly damaging	Het
Slc35d2	A	G	13: 64,247,097 (GRCm39)	V261A	possibly damaging	Het
Ssmem1	A	G	6: 30,519,513 (GRCm39)	D66G	probably damaging	Het
Sult2a8	A	T	7: 14,159,402 (GRCm39)	N72K	probably benign	Het
Tbx10	T	C	19: 4,046,921 (GRCm39)	L108P	probably damaging	Het
Tex14	T	C	11: 87,427,691 (GRCm39)	S48P	probably damaging	Het
Tmie	A	G	9: 110,696,596 (GRCm39)	L95P	probably damaging	Het
Tom1l2	C	G	11: 60,161,259 (GRCm39)	R84P	probably damaging	Het
Trpm3	T	A	19: 22,866,799 (GRCm39)	D543E	possibly damaging	Het
Vipr2	A	C	12: 116,043,751 (GRCm39)	R49S	probably benign	Het
Vps8	A	T	16: 21,261,189 (GRCm39)	S110C	probably damaging	Het
Zfp791	T	A	8: 85,837,597 (GRCm39)	N89I	probably damaging	Het

Other mutations in Slc49a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Slc49a3	APN	5	108,592,458 (GRCm39)	splice site	probably benign
R0239:Slc49a3	UTSW	5	108,591,882 (GRCm39)	splice site	probably benign
R0551:Slc49a3	UTSW	5	108,592,331 (GRCm39)	splice site	probably benign
R2086:Slc49a3	UTSW	5	108,593,487 (GRCm39)	missense	probably damaging	1.00
R2240:Slc49a3	UTSW	5	108,592,573 (GRCm39)	missense	probably benign	0.04
R4663:Slc49a3	UTSW	5	108,590,011 (GRCm39)	missense	probably benign	0.01
R5560:Slc49a3	UTSW	5	108,596,729 (GRCm39)	start codon destroyed	probably null	0.01
R5950:Slc49a3	UTSW	5	108,593,351 (GRCm39)	missense	probably damaging	0.98
R6618:Slc49a3	UTSW	5	108,590,964 (GRCm39)	missense	probably benign	0.16
R7107:Slc49a3	UTSW	5	108,596,581 (GRCm39)	splice site	probably null
R7273:Slc49a3	UTSW	5	108,589,857 (GRCm39)	missense	probably benign
R7369:Slc49a3	UTSW	5	108,593,394 (GRCm39)	missense	probably benign	0.09
R7384:Slc49a3	UTSW	5	108,593,926 (GRCm39)	missense	probably damaging	0.96
R7502:Slc49a3	UTSW	5	108,591,646 (GRCm39)	splice site	probably null
R7585:Slc49a3	UTSW	5	108,596,685 (GRCm39)	missense	probably benign
R7863:Slc49a3	UTSW	5	108,593,400 (GRCm39)	missense	probably damaging	1.00
R7908:Slc49a3	UTSW	5	108,592,363 (GRCm39)	missense	probably benign	0.09
R8909:Slc49a3	UTSW	5	108,592,432 (GRCm39)	missense	probably benign	0.00
R8976:Slc49a3	UTSW	5	108,589,897 (GRCm39)	missense	probably benign	0.01
R9063:Slc49a3	UTSW	5	108,590,103 (GRCm39)	missense	probably damaging	1.00
R9277:Slc49a3	UTSW	5	108,589,864 (GRCm39)	missense	probably benign
R9797:Slc49a3	UTSW	5	108,593,403 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TAACGACTTTGCCTCTGTCAG -3'
(R):5'- TCTGACTGCCTGGACAGTTG -3'

Sequencing Primer
(F):5'- GACTTTGCCTCTGTCAGAGCTTTTAG -3'
(R):5'- CCTGGACAGTTGAGGGTCAG -3'

Posted On

2015-10-21