Mutagenetix > Incidental Mutation

Incidental Mutation 'R1158:Slc43a3'

101850

Institutional Source

Beutler Lab

Gene Symbol

Slc43a3

Ensembl Gene

ENSMUSG00000027074

Gene Name

solute carrier family 43, member 3

Synonyms

Eeg1, SEEEG-1

MMRRC Submission

039231-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84766923-84788853 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84768140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 37 (F37L)

Ref Sequence

ENSEMBL: ENSMUSP00000119122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090726] [ENSMUST00000130278] [ENSMUST00000138719] [ENSMUST00000141650]

AlphaFold

A2AVZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000090726
AA Change: F37L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000088227
Gene: ENSMUSG00000027074
AA Change: F37L

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: ENSMUST00000130278
AA Change: F37L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000138719
AA Change: F37L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000121959
Gene: ENSMUSG00000027074
AA Change: F37L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000141650
AA Change: F37L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000116513
Gene: ENSMUSG00000027074
AA Change: F37L

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: ENSMUST00000155506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155537

Meta Mutation Damage Score

0.0807

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	T	C	9: 59,217,566 (GRCm39)	V193A	possibly damaging	Het
Ahnak	A	C	19: 8,991,290 (GRCm39)	E4191D	probably benign	Het
BC024139	T	A	15: 76,004,542 (GRCm39)		probably benign	Het
Bpifb9a	T	G	2: 154,104,184 (GRCm39)	I209S	probably benign	Het
Bst1	T	G	5: 43,997,834 (GRCm39)		probably null	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Carf	A	G	1: 60,186,998 (GRCm39)	K499E	probably benign	Het
Casq2	A	G	3: 102,024,199 (GRCm39)	E147G	probably damaging	Het
Cd8a	T	A	6: 71,350,712 (GRCm39)	V59D	probably damaging	Het
Chrm5	T	C	2: 112,310,214 (GRCm39)	T301A	probably benign	Het
Cog5	G	A	12: 31,920,056 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,156,170 (GRCm39)		probably null	Het
Dop1a	T	C	9: 86,367,609 (GRCm39)	S31P	probably damaging	Het
Eif1ad9	A	T	12: 88,296,438 (GRCm39)	I139F	unknown	Het
Epb41	T	C	4: 131,727,502 (GRCm39)		probably benign	Het
Fhod3	C	T	18: 25,118,293 (GRCm39)	A210V	probably damaging	Het
Gdpgp1	T	C	7: 79,888,250 (GRCm39)	F94L	probably benign	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Htr3b	T	C	9: 48,847,390 (GRCm39)	K375R	possibly damaging	Het
Inhbe	G	A	10: 127,187,186 (GRCm39)	R77W	probably damaging	Het
Itgb8	T	C	12: 119,166,231 (GRCm39)	E100G	probably damaging	Het
Jakmip1	T	C	5: 37,248,472 (GRCm39)	V44A	possibly damaging	Het
Lrp12	A	G	15: 39,741,827 (GRCm39)	V315A	probably damaging	Het
Lrp1b	T	A	2: 40,567,506 (GRCm39)	T305S	unknown	Het
Map3k2	A	G	18: 32,350,211 (GRCm39)	T354A	probably benign	Het
Mmp16	T	C	4: 17,987,726 (GRCm39)		probably null	Het
Mphosph10	T	C	7: 64,038,607 (GRCm39)		probably benign	Het
Or10a48	A	G	7: 108,424,385 (GRCm39)	S274P	probably damaging	Het
Or10ak7	A	T	4: 118,791,614 (GRCm39)	C144S	probably damaging	Het
Or4c52	T	A	2: 89,845,598 (GRCm39)	I108N	possibly damaging	Het
Or4k47	T	C	2: 111,452,086 (GRCm39)	E111G	probably damaging	Het
Or5p52	G	A	7: 107,502,130 (GRCm39)	V69I	possibly damaging	Het
Slf2	G	T	19: 44,919,855 (GRCm39)	A36S	probably damaging	Het
Sorcs1	T	C	19: 50,132,598 (GRCm39)		probably benign	Het
Thsd7b	A	C	1: 130,117,672 (GRCm39)		probably null	Het
Tnfrsf18	A	C	4: 156,112,739 (GRCm39)	I142L	probably benign	Het
Ttn	A	G	2: 76,632,855 (GRCm39)		probably benign	Het
Tufm	T	A	7: 126,088,614 (GRCm39)		probably null	Het
Vmn2r69	A	T	7: 85,059,058 (GRCm39)		probably benign	Het
Zfp385c	T	C	11: 100,520,709 (GRCm39)		probably benign	Het
Zfp964	T	A	8: 70,116,503 (GRCm39)	C368S	unknown	Het
Zswim8	G	A	14: 20,771,736 (GRCm39)		probably benign	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
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
R2243:Slc43a3	UTSW	2	84,778,782 (GRCm39)	unclassified	probably benign
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

Posted On

2014-01-15