Mutagenetix > Incidental Mutation

Incidental Mutation 'R2243:Slc43a3'

240714

Institutional Source

Beutler Lab

Gene Symbol

Slc43a3

Ensembl Gene

ENSMUSG00000027074

Gene Name

solute carrier family 43, member 3

Synonyms

Eeg1, SEEEG-1

MMRRC Submission

040243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2243 (G1)

Quality Score

154

Status

Validated

Chromosome

Chromosomal Location

84766923-84788853 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 84778782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090726] [ENSMUST00000141650]

AlphaFold

A2AVZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000090726

SMART Domains

Protein: ENSMUSP00000088227
Gene: ENSMUSG00000027074

Domain	Start	End	E-Value	Type
Pfam:MFS_1	12	457	1.2e-20	PFAM
transmembrane domain	470	487	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141650

SMART Domains

Protein: ENSMUSP00000116513
Gene: ENSMUSG00000027074

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	99	118	N/A	INTRINSIC
transmembrane domain	123	145	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155537

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	G	A	4: 144,503,991 (GRCm39)	R387C	probably benign	Het
Agbl1	A	T	7: 76,068,470 (GRCm39)	E93D	possibly damaging	Het
Akap10	C	A	11: 61,806,327 (GRCm39)	V134F	possibly damaging	Het
Bnc1	T	C	7: 81,623,821 (GRCm39)	I469V	possibly damaging	Het
Bod1l	T	A	5: 41,978,888 (GRCm39)	I809L	possibly damaging	Het
Dicer1	T	A	12: 104,696,447 (GRCm39)	E118V	probably damaging	Het
Dmbt1	T	C	7: 130,648,292 (GRCm39)	F274S	probably benign	Het
Dnaaf2	T	G	12: 69,243,418 (GRCm39)	T548P	possibly damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Fchsd2	A	G	7: 100,883,092 (GRCm39)	N240S	probably benign	Het
Foxb1	T	C	9: 69,667,146 (GRCm39)	Y128C	probably damaging	Het
Fxr2	A	T	11: 69,532,896 (GRCm39)	K158M	possibly damaging	Het
Golga4	C	A	9: 118,385,972 (GRCm39)	D1031E	probably benign	Het
Hbb-bs	T	C	7: 103,477,018 (GRCm39)	D22G	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hnrnpul2	T	A	19: 8,798,001 (GRCm39)	M119K	probably benign	Het
Kif18a	C	A	2: 109,128,452 (GRCm39)	H369Q	probably damaging	Het
Klhdc10	A	G	6: 30,449,558 (GRCm39)	T207A	probably damaging	Het
Lig4	A	G	8: 10,022,161 (GRCm39)	C540R	possibly damaging	Het
Lilrb4b	A	T	10: 51,357,704 (GRCm39)	N133Y	possibly damaging	Het
Lrrc31	T	A	3: 30,739,179 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myof	C	T	19: 37,889,767 (GRCm39)	R2009H	probably damaging	Het
Nlrp2	C	T	7: 5,338,597 (GRCm39)	V99I	probably benign	Het
Or2w3b	G	A	11: 58,623,271 (GRCm39)	T240M	probably damaging	Het
Pcnx1	T	C	12: 81,965,479 (GRCm39)	S549P	probably damaging	Het
Pkhd1l1	T	C	15: 44,410,323 (GRCm39)	F2610S	probably damaging	Het
S100a14	A	G	3: 90,435,114 (GRCm39)	T42A	possibly damaging	Het
Serpina6	T	A	12: 103,613,187 (GRCm39)	Y371F	probably benign	Het
Taldo1	C	A	7: 140,972,217 (GRCm39)	T28K	probably damaging	Het
Tatdn3	T	C	1: 190,785,097 (GRCm39)	Y184C	probably damaging	Het
Tep1	G	C	14: 51,091,667 (GRCm39)	R625G	probably benign	Het
Timm44	A	T	8: 4,317,871 (GRCm39)	I179N	possibly damaging	Het
Uimc1	A	T	13: 55,198,552 (GRCm39)		probably null	Het
Vmn1r68	A	T	7: 10,262,089 (GRCm39)	V3E	probably damaging	Het
Zer1	A	T	2: 29,991,139 (GRCm39)	F683L	probably damaging	Het

Other mutations in Slc43a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02017:Slc43a3	APN	2	84,768,585 (GRCm39)	missense	probably damaging	1.00
IGL02405:Slc43a3	APN	2	84,768,585 (GRCm39)	missense	probably damaging	1.00
IGL02756:Slc43a3	APN	2	84,774,612 (GRCm39)	missense	probably benign	0.06
R0276:Slc43a3	UTSW	2	84,768,007 (GRCm39)	start gained	probably benign
R1158:Slc43a3	UTSW	2	84,768,140 (GRCm39)	missense	probably benign	0.27
R1865:Slc43a3	UTSW	2	84,777,245 (GRCm39)	missense	possibly damaging	0.90
R1992:Slc43a3	UTSW	2	84,788,084 (GRCm39)	missense	probably damaging	0.99
R2073:Slc43a3	UTSW	2	84,774,956 (GRCm39)	critical splice donor site	probably null
R3819:Slc43a3	UTSW	2	84,774,896 (GRCm39)	missense	probably damaging	1.00
R4758:Slc43a3	UTSW	2	84,774,869 (GRCm39)	missense	probably damaging	1.00
R5294:Slc43a3	UTSW	2	84,786,654 (GRCm39)	missense	probably benign	0.13
R5369:Slc43a3	UTSW	2	84,788,067 (GRCm39)	missense	probably damaging	0.98
R6516:Slc43a3	UTSW	2	84,788,105 (GRCm39)	missense	probably benign	0.00
R6729:Slc43a3	UTSW	2	84,768,629 (GRCm39)	missense	probably damaging	1.00
R7012:Slc43a3	UTSW	2	84,777,313 (GRCm39)	missense	probably damaging	0.99
R8358:Slc43a3	UTSW	2	84,780,860 (GRCm39)	missense	probably benign	0.38
R8391:Slc43a3	UTSW	2	84,768,151 (GRCm39)	missense	probably benign	0.32
R8711:Slc43a3	UTSW	2	84,768,671 (GRCm39)	missense	probably damaging	1.00
R9382:Slc43a3	UTSW	2	84,780,771 (GRCm39)	missense	probably benign	0.18
R9729:Slc43a3	UTSW	2	84,780,800 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGAGAAGTGATTCCGTGTGAAG -3'
(R):5'- AAAGACCCTGCCCTTTCTGG -3'

Sequencing Primer
(F):5'- AAGATGAGGATCCTCTCTCTGTGC -3'
(R):5'- CTGGGTCCTCTCTAAAAGTGAG -3'

Posted On

2014-10-15