Mutagenetix > Incidental Mutation

Incidental Mutation 'R7681:Slc43a2'

592775

Institutional Source

Beutler Lab

Gene Symbol

Slc43a2

Ensembl Gene

ENSMUSG00000038178

Gene Name

solute carrier family 43, member 2

Synonyms

7630402D21Rik

MMRRC Submission

045747-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.791) question?

Stock #

R7681 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75422520-75468401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75454499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 348 (I348N)

Ref Sequence

ENSEMBL: ENSMUSP00000046074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042561] [ENSMUST00000108433] [ENSMUST00000169547]

AlphaFold

Q8CGA3

Predicted Effect

probably benign
Transcript: ENSMUST00000042561
AA Change: I348N

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000046074
Gene: ENSMUSG00000038178
AA Change: I348N

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
Pfam:MFS_1	58	393	2.9e-15	PFAM
transmembrane domain	426	448	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC
transmembrane domain	482	504	N/A	INTRINSIC
transmembrane domain	514	536	N/A	INTRINSIC
low complexity region	538	550	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108433
AA Change: I348N

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104071
Gene: ENSMUSG00000038178
AA Change: I348N

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
Pfam:MFS_1	58	393	2.4e-15	PFAM
transmembrane domain	426	448	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC
transmembrane domain	482	504	N/A	INTRINSIC
transmembrane domain	514	536	N/A	INTRINSIC
low complexity region	538	550	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169547
AA Change: I348N

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000126838
Gene: ENSMUSG00000038178
AA Change: I348N

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
Pfam:MFS_1	58	393	2.4e-15	PFAM
transmembrane domain	426	448	N/A	INTRINSIC
transmembrane domain	453	475	N/A	INTRINSIC
transmembrane domain	482	504	N/A	INTRINSIC
transmembrane domain	514	536	N/A	INTRINSIC
low complexity region	538	550	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-out allele display fetal growth retardation, abnormal placental amino acid transport, slow postnatal weight gain, malnutrition and postnatal lethality, likely as a result of impaired intestinal amino acid absorption. [provided by MGI curators]

Allele List at MGI

All alleles(8) : Targeted, knock-out(1) Gene trapped(7)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	C	T	5: 8,899,619 (GRCm39)	A963V	probably benign	Het
Agbl1	T	C	7: 76,094,649 (GRCm39)	V760A	unknown	Het
Akap13	T	C	7: 75,378,544 (GRCm39)	F347L	possibly damaging	Het
Anapc5	A	T	5: 122,940,202 (GRCm39)	F356L	probably benign	Het
Bmp6	A	G	13: 38,530,171 (GRCm39)	H88R	probably damaging	Het
Cblb	C	A	16: 52,025,001 (GRCm39)	S921R	probably damaging	Het
Ccs	T	A	19: 4,882,858 (GRCm39)		probably null	Het
Cyp20a1	A	G	1: 60,392,192 (GRCm39)	T83A	probably benign	Het
Defa25	T	A	8: 21,574,535 (GRCm39)	D26E	probably benign	Het
Dmwd	T	A	7: 18,815,007 (GRCm39)	N552K	probably benign	Het
Dnah17	C	T	11: 117,916,012 (GRCm39)	V4297M	probably damaging	Het
Fam135a	A	T	1: 24,106,996 (GRCm39)	S47R	probably benign	Het
Fbxo41	A	T	6: 85,455,461 (GRCm39)	C574*	probably null	Het
Fgb	T	C	3: 82,957,139 (GRCm39)		probably benign	Het
Fgfr1	C	T	8: 26,045,677 (GRCm39)	T82I	probably damaging	Het
Fhod3	T	A	18: 25,123,095 (GRCm39)	L262M	probably damaging	Het
Galnt16	A	T	12: 80,637,413 (GRCm39)	Q380L	probably damaging	Het
Glp2r	C	T	11: 67,600,505 (GRCm39)	G448D	probably benign	Het
Gnb4	C	A	3: 32,641,902 (GRCm39)	A242S	possibly damaging	Het
Golim4	T	C	3: 75,794,331 (GRCm39)		probably null	Het
Grik2	G	T	10: 49,120,476 (GRCm39)	N604K	probably damaging	Het
Hnf1b	T	G	11: 83,779,972 (GRCm39)	I435S	probably damaging	Het
Hoxa11	C	T	6: 52,222,099 (GRCm39)	G201S	probably benign	Het
Hpse	A	G	5: 100,839,257 (GRCm39)	S364P	possibly damaging	Het
Kif16b	A	T	2: 142,598,046 (GRCm39)	N525K	probably damaging	Het
Kif1a	A	T	1: 92,982,666 (GRCm39)	C704S	probably benign	Het
Limk2	A	G	11: 3,303,354 (GRCm39)	S322P	probably damaging	Het
Lrp1b	A	T	2: 40,765,011 (GRCm39)	C2938*	probably null	Het
Malrd1	A	G	2: 16,222,913 (GRCm39)	R2071G	unknown	Het
Man2a2	T	A	7: 80,001,497 (GRCm39)	I1137F	possibly damaging	Het
Map2k6	C	T	11: 110,388,729 (GRCm39)	R224*	probably null	Het
Map3k4	G	A	17: 12,537,430 (GRCm39)	P29L	unknown	Het
Morn5	A	T	2: 35,947,156 (GRCm39)	N145Y	possibly damaging	Het
Muc20	T	C	16: 32,613,989 (GRCm39)	T463A	probably benign	Het
Myh10	C	T	11: 68,662,762 (GRCm39)	T642I	probably damaging	Het
Myh14	C	A	7: 44,273,572 (GRCm39)	R1362L	possibly damaging	Het
Nup88	C	A	11: 70,860,711 (GRCm39)	V23L	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or13p8	A	G	4: 118,583,761 (GRCm39)	I106V	probably benign	Het
Or4c116	A	C	2: 88,941,935 (GRCm39)	V307G	probably benign	Het
Or5p56	T	C	7: 107,590,355 (GRCm39)	M261T	possibly damaging	Het
Pabpn1	T	C	14: 55,135,499 (GRCm39)	Y299H	probably damaging	Het
Pak4	T	C	7: 28,259,655 (GRCm39)	E514G	probably damaging	Het
Ppp1r12b	A	C	1: 134,793,673 (GRCm39)	S564A	probably benign	Het
Psmc2	T	C	5: 22,008,272 (GRCm39)		probably null	Het
Psme4	A	G	11: 30,741,975 (GRCm39)	Y146C	possibly damaging	Het
Rb1cc1	A	G	1: 6,310,547 (GRCm39)	D315G	probably damaging	Het
Rilpl1	A	G	5: 124,668,976 (GRCm39)	V24A	possibly damaging	Het
Rtel1	A	T	2: 180,964,187 (GRCm39)	H62L	probably damaging	Het
Ruvbl1	G	A	6: 88,444,635 (GRCm39)		probably null	Het
Scn5a	A	G	9: 119,359,043 (GRCm39)	V668A	probably benign	Het
Slc22a6	G	A	19: 8,603,493 (GRCm39)	G519E	probably benign	Het
Slc6a16	T	A	7: 44,910,338 (GRCm39)	L347Q	probably damaging	Het
Smg6	T	A	11: 74,822,531 (GRCm39)	L658H	probably damaging	Het
Spata31e4	C	T	13: 50,856,290 (GRCm39)	P643S	possibly damaging	Het
Spidr	C	A	16: 15,713,488 (GRCm39)	G832W	probably damaging	Het
Ssrp1	G	A	2: 84,876,092 (GRCm39)	G616E	probably benign	Het
Sult1b1	G	A	5: 87,678,495 (GRCm39)	L110F	probably damaging	Het
Tfec	T	A	6: 16,834,235 (GRCm39)	H224L	probably benign	Het
Ttn	C	T	2: 76,539,295 (GRCm39)	E34564K	probably benign	Het
Washc2	A	G	6: 116,237,618 (GRCm39)	D1285G	probably damaging	Het
Zfp870	T	C	17: 33,101,664 (GRCm39)	E555G	probably benign	Het

Other mutations in Slc43a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01790:Slc43a2	APN	11	75,436,577 (GRCm39)	splice site	probably null
IGL03009:Slc43a2	APN	11	75,463,202 (GRCm39)	missense	probably benign
IGL03145:Slc43a2	APN	11	75,459,263 (GRCm39)	missense	probably benign	0.27
1mM(1):Slc43a2	UTSW	11	75,457,822 (GRCm39)	missense	possibly damaging	0.80
R0051:Slc43a2	UTSW	11	75,453,676 (GRCm39)	missense	probably damaging	1.00
R0051:Slc43a2	UTSW	11	75,453,676 (GRCm39)	missense	probably damaging	1.00
R0133:Slc43a2	UTSW	11	75,454,403 (GRCm39)	missense	probably benign	0.22
R0443:Slc43a2	UTSW	11	75,435,493 (GRCm39)	splice site	probably benign
R0841:Slc43a2	UTSW	11	75,457,815 (GRCm39)	nonsense	probably null
R1145:Slc43a2	UTSW	11	75,457,815 (GRCm39)	nonsense	probably null
R1145:Slc43a2	UTSW	11	75,457,815 (GRCm39)	nonsense	probably null
R1215:Slc43a2	UTSW	11	75,453,688 (GRCm39)	missense	probably damaging	1.00
R1499:Slc43a2	UTSW	11	75,453,733 (GRCm39)	critical splice donor site	probably null
R1943:Slc43a2	UTSW	11	75,436,567 (GRCm39)	splice site	probably null
R2438:Slc43a2	UTSW	11	75,453,957 (GRCm39)	missense	possibly damaging	0.90
R2512:Slc43a2	UTSW	11	75,461,403 (GRCm39)	missense	probably damaging	1.00
R3726:Slc43a2	UTSW	11	75,433,980 (GRCm39)	splice site	probably benign
R3804:Slc43a2	UTSW	11	75,454,424 (GRCm39)	missense	probably benign	0.01
R4830:Slc43a2	UTSW	11	75,434,119 (GRCm39)	missense	probably damaging	1.00
R5650:Slc43a2	UTSW	11	75,436,633 (GRCm39)	missense	probably damaging	1.00
R6042:Slc43a2	UTSW	11	75,461,433 (GRCm39)	missense	probably damaging	0.98
R6171:Slc43a2	UTSW	11	75,453,876 (GRCm39)	missense	probably damaging	1.00
R6196:Slc43a2	UTSW	11	75,459,206 (GRCm39)	nonsense	probably null
R6264:Slc43a2	UTSW	11	75,457,900 (GRCm39)	missense	possibly damaging	0.90
R6597:Slc43a2	UTSW	11	75,462,681 (GRCm39)	missense	probably damaging	1.00
R7787:Slc43a2	UTSW	11	75,453,900 (GRCm39)	missense	probably damaging	1.00
R8174:Slc43a2	UTSW	11	75,434,193 (GRCm39)	critical splice donor site	probably null
R8711:Slc43a2	UTSW	11	75,457,879 (GRCm39)	missense	probably benign	0.22
R8769:Slc43a2	UTSW	11	75,434,192 (GRCm39)	critical splice donor site	probably null
R9688:Slc43a2	UTSW	11	75,434,112 (GRCm39)	missense	probably damaging	1.00
X0060:Slc43a2	UTSW	11	75,423,491 (GRCm39)	missense	probably null	0.91

Predicted Primers

PCR Primer
(F):5'- AGTCCACACACTGAGCCTTC -3'
(R):5'- GGTCACAAAGTACATAAGCTGG -3'

Sequencing Primer
(F):5'- ACACACTGAGCCTTCGTCCC -3'
(R):5'- TCACAAAGTACATAAGCTGGAGGGG -3'

Posted On

2019-11-12