Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03286:Slc47a2'

415710

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc47a2

Ensembl Gene

ENSMUSG00000069855

Gene Name

solute carrier family 47, member 2

Synonyms

4933429E10Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

61301631-61342860 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 61342467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 79 (E79A)

Ref Sequence

ENSEMBL: ENSMUSP00000090710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010267] [ENSMUST00000093029] [ENSMUST00000131723] [ENSMUST00000134423]

AlphaFold

Q3V050

Predicted Effect

probably benign
Transcript: ENSMUST00000010267

SMART Domains

Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:MatE	44	204	4.8e-34	PFAM
low complexity region	225	236	N/A	INTRINSIC
Pfam:MatE	265	426	1.6e-32	PFAM
low complexity region	442	452	N/A	INTRINSIC
transmembrane domain	545	564	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093029
AA Change: E79A

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855
AA Change: E79A

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
Pfam:MatE	53	213	1.7e-35	PFAM
transmembrane domain	227	246	N/A	INTRINSIC
Pfam:MatE	274	435	4e-34	PFAM
transmembrane domain	444	466	N/A	INTRINSIC
transmembrane domain	545	567	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131723

SMART Domains

Protein: ENSMUSP00000115132
Gene: ENSMUSG00000010122

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:MatE	44	180	2.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134423
AA Change: E79A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855
AA Change: E79A

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
Pfam:MatE	53	213	3.5e-32	PFAM
transmembrane domain	227	246	N/A	INTRINSIC
Pfam:MatE	274	435	1.7e-36	PFAM
transmembrane domain	444	466	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147450

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,049,384	G110S	probably benign	Het
Arhgap32	T	C	9: 32,259,520	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,077,659	D147G	probably benign	Het
Calcoco2	A	G	11: 96,103,272	V116A	possibly damaging	Het
Chd5	A	T	4: 152,385,495	M1842L	probably benign	Het
Comt	T	C	16: 18,411,740	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,175,153	I175M	probably benign	Het
Dnah6	A	T	6: 73,083,085	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,966,616	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,502,262	D258G	probably damaging	Het
Eml5	T	C	12: 98,860,503	D630G	probably damaging	Het
Ext2	C	T	2: 93,707,272	V590M	probably damaging	Het
Fchsd2	T	C	7: 101,259,775		probably null	Het
Gm13272	A	G	4: 88,780,349	Q167R	probably benign	Het
Gm21834	A	G	17: 57,741,927	V98A	possibly damaging	Het
Grid1	T	A	14: 35,520,685		probably benign	Het
H2-DMa	T	A	17: 34,137,109		probably null	Het
Ighv5-17	T	G	12: 113,859,177	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261	T144A	probably benign	Het
Ipo9	A	G	1: 135,407,078		probably benign	Het
Itga4	A	T	2: 79,289,362	Y504F	probably damaging	Het
Krt5	A	G	15: 101,707,548	F544S	unknown	Het
Larp4	A	G	15: 99,986,086	Y67C	probably damaging	Het
Msh2	T	C	17: 87,682,667	M261T	possibly damaging	Het
Nav1	A	T	1: 135,454,536	C1367S	probably benign	Het
Nox4	T	A	7: 87,370,141		probably benign	Het
Noxa1	A	G	2: 25,085,720		probably null	Het
Olfr1450	A	C	19: 12,954,168	Y193S	probably benign	Het
Olfr414	A	C	1: 174,431,177	I250L	probably benign	Het
Pde4d	T	A	13: 109,954,506		probably benign	Het
Pdlim2	C	T	14: 70,174,476	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,634,347	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,531,473	T582K	probably damaging	Het
Rap1b	A	T	10: 117,818,575	L120*	probably null	Het
Rft1	C	T	14: 30,661,366	T121I	probably benign	Het
Scn1a	A	G	2: 66,277,576	I1613T	probably damaging	Het
Slc9a4	A	G	1: 40,580,768	I85V	probably null	Het
Slfn8	A	T	11: 83,013,468	F365L	probably damaging	Het
Smcr8	T	A	11: 60,778,027		probably benign	Het
Sntb1	T	C	15: 55,792,046	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,344,414	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,747,832	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stab1	C	T	14: 31,159,326		probably benign	Het
Tars2	T	C	3: 95,754,755		probably benign	Het
Tchhl1	C	T	3: 93,471,123	A378V	probably benign	Het
Tet3	A	T	6: 83,375,778	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,222,954	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,584,206	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,516,310	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,419,531	M141L	probably benign	Het

Other mutations in Slc47a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Slc47a2	APN	11	61302233	missense	probably benign	0.16
IGL01367:Slc47a2	APN	11	61329781	missense	probably benign	0.03
IGL01681:Slc47a2	APN	11	61338040	missense	probably damaging	1.00
IGL01874:Slc47a2	APN	11	61312859	critical splice acceptor site	probably null
IGL02049:Slc47a2	APN	11	61342539	missense	probably damaging	0.98
IGL02399:Slc47a2	APN	11	61302194	unclassified	probably benign
IGL02481:Slc47a2	APN	11	61336241	missense	possibly damaging	0.58
IGL02880:Slc47a2	APN	11	61307540	missense	probably damaging	0.97
IGL03068:Slc47a2	APN	11	61303943	missense	probably damaging	1.00
IGL03136:Slc47a2	APN	11	61310765	missense	probably benign	0.00
IGL03236:Slc47a2	APN	11	61313679	missense	probably damaging	1.00
R0047:Slc47a2	UTSW	11	61336242	missense	possibly damaging	0.90
R0047:Slc47a2	UTSW	11	61336242	missense	possibly damaging	0.90
R0597:Slc47a2	UTSW	11	61309976	missense	probably damaging	0.98
R0690:Slc47a2	UTSW	11	61342504	missense	possibly damaging	0.62
R2042:Slc47a2	UTSW	11	61338082	missense	probably benign	0.05
R2217:Slc47a2	UTSW	11	61313671	missense	probably benign	0.00
R2218:Slc47a2	UTSW	11	61313671	missense	probably benign	0.00
R2271:Slc47a2	UTSW	11	61328526	critical splice donor site	probably null
R2272:Slc47a2	UTSW	11	61328526	critical splice donor site	probably null
R4067:Slc47a2	UTSW	11	61303947	missense	probably benign	0.00
R4861:Slc47a2	UTSW	11	61336233	missense	probably benign	0.00
R4861:Slc47a2	UTSW	11	61336233	missense	probably benign	0.00
R4862:Slc47a2	UTSW	11	61313694	missense	possibly damaging	0.69
R4985:Slc47a2	UTSW	11	61302233	missense	probably benign
R5419:Slc47a2	UTSW	11	61307586	missense	probably benign
R5593:Slc47a2	UTSW	11	61342660	missense	probably benign	0.00
R7105:Slc47a2	UTSW	11	61342443	missense	probably benign	0.07
R7358:Slc47a2	UTSW	11	61308873	missense	possibly damaging	0.78
R7522:Slc47a2	UTSW	11	61302250	missense	probably benign	0.14
R8743:Slc47a2	UTSW	11	61342762	missense	probably benign	0.03
R8916:Slc47a2	UTSW	11	61302292	missense	probably damaging	1.00
R9060:Slc47a2	UTSW	11	61336873	missense	probably benign	0.00
R9383:Slc47a2	UTSW	11	61336923	missense	probably damaging	1.00
Z1176:Slc47a2	UTSW	11	61325889	missense	probably benign	0.28
Z1177:Slc47a2	UTSW	11	61328575	missense	probably damaging	1.00

Posted On

2016-08-02