Mutagenetix > Incidental Mutation

Incidental Mutation 'R5543:Slc37a3'

436093

Institutional Source

Beutler Lab

Gene Symbol

Slc37a3

Ensembl Gene

ENSMUSG00000029924

Gene Name

solute carrier family 37 (glycerol-3-phosphate transporter), member 3

Synonyms

2610507O21Rik

MMRRC Submission

043101-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5543 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39311707-39354609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 39331960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 158 (G158C)

Ref Sequence

ENSEMBL: ENSMUSP00000087709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090243] [ENSMUST00000200771] [ENSMUST00000200961] [ENSMUST00000200969] [ENSMUST00000201448] [ENSMUST00000202204] [ENSMUST00000202400] [ENSMUST00000202749]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090243
AA Change: G158C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087709
Gene: ENSMUSG00000029924
AA Change: G158C

Domain	Start	End	E-Value	Type
Pfam:MFS_1	23	420	3.8e-37	PFAM
Pfam:Sugar_tr	27	262	2.5e-8	PFAM
transmembrane domain	423	445	N/A	INTRINSIC
transmembrane domain	455	477	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200771

SMART Domains

Protein: ENSMUSP00000143953
Gene: ENSMUSG00000029924

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200961

SMART Domains

Protein: ENSMUSP00000144562
Gene: ENSMUSG00000029924

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
transmembrane domain	82	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200969

SMART Domains

Protein: ENSMUSP00000144244
Gene: ENSMUSG00000029924

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201448

SMART Domains

Protein: ENSMUSP00000144059
Gene: ENSMUSG00000029924

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
transmembrane domain	82	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202204

SMART Domains

Protein: ENSMUSP00000144316
Gene: ENSMUSG00000029924

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000202400
AA Change: G158C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144557
Gene: ENSMUSG00000029924
AA Change: G158C

Domain	Start	End	E-Value	Type
Pfam:MFS_1	12	173	2.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202749

SMART Domains

Protein: ENSMUSP00000144636
Gene: ENSMUSG00000029924

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	C	A	7: 127,836,353 (GRCm39)	S80I	probably benign	Het
Aak1	T	C	6: 86,959,627 (GRCm39)		probably null	Het
Abcc6	A	G	7: 45,638,960 (GRCm39)		probably null	Het
Acvr1	A	G	2: 58,353,157 (GRCm39)	S268P	probably damaging	Het
Apod	T	C	16: 31,122,351 (GRCm39)		probably null	Het
Atp5po	T	C	16: 91,723,418 (GRCm39)	I58V	probably benign	Het
AU040320	C	T	4: 126,735,017 (GRCm39)	T777M	probably damaging	Het
Ccne2	A	T	4: 11,194,026 (GRCm39)	N89I	probably benign	Het
Cspg4b	C	A	13: 113,457,407 (GRCm39)	T1151K	probably damaging	Het
Dnah7a	A	G	1: 53,543,228 (GRCm39)	V2314A	probably damaging	Het
Dop1b	T	C	16: 93,595,808 (GRCm39)	S1881P	probably damaging	Het
E4f1	A	G	17: 24,666,336 (GRCm39)	V24A	possibly damaging	Het
Esrrg	A	T	1: 187,882,451 (GRCm39)	D236V	probably damaging	Het
Fam240b	T	A	13: 64,633,736 (GRCm39)	I27F	possibly damaging	Het
Fat1	T	A	8: 45,476,516 (GRCm39)	I1854N	probably damaging	Het
Fchsd2	T	C	7: 100,920,906 (GRCm39)	Y480H	probably damaging	Het
Fras1	A	G	5: 96,676,394 (GRCm39)	N47S	probably benign	Het
Gabrr3	T	C	16: 59,253,870 (GRCm39)	S196P	probably damaging	Het
Gbp8	T	A	5: 105,165,696 (GRCm39)	D319V	possibly damaging	Het
Hrh3	G	T	2: 179,745,763 (GRCm39)	A61E	probably damaging	Het
Idua	T	C	5: 108,818,095 (GRCm39)	I89T	probably benign	Het
Ifitm3	T	A	7: 140,589,730 (GRCm39)	I108F	unknown	Het
Izumo4	T	C	10: 80,538,668 (GRCm39)	F40S	probably damaging	Het
Kifc2	A	G	15: 76,551,242 (GRCm39)	R679G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Ldha	A	T	7: 46,500,314 (GRCm39)	I171F	possibly damaging	Het
Lrfn4	T	C	19: 4,662,191 (GRCm39)	S609G	probably benign	Het
Mmp15	T	C	8: 96,094,729 (GRCm39)	F201S	possibly damaging	Het
Myof	C	T	19: 37,969,778 (GRCm39)	V295I	probably benign	Het
Or1n2	C	T	2: 36,797,369 (GRCm39)	T137I	possibly damaging	Het
Or2z2	T	A	11: 58,345,993 (GRCm39)	M261L	probably damaging	Het
Or5m12	G	T	2: 85,734,672 (GRCm39)	A242D	probably damaging	Het
Parp14	T	C	16: 35,655,137 (GRCm39)	D1778G	probably benign	Het
Pcnt	A	T	10: 76,247,886 (GRCm39)	D969E	probably benign	Het
Pibf1	A	T	14: 99,350,428 (GRCm39)	N192I	probably benign	Het
Pitpnm3	A	G	11: 71,947,023 (GRCm39)	F792S	probably damaging	Het
Pkd2	T	A	5: 104,637,199 (GRCm39)	I604N	probably damaging	Het
Pla2g15	T	C	8: 106,887,775 (GRCm39)	Y188H	probably damaging	Het
Plxnc1	G	T	10: 94,700,636 (GRCm39)	D643E	probably benign	Het
Prrc2c	G	A	1: 162,501,080 (GRCm39)	P1241L	probably damaging	Het
Ptprd	T	C	4: 75,977,990 (GRCm39)	E173G	probably damaging	Het
Shank3	T	C	15: 89,416,557 (GRCm39)	V232A	probably damaging	Het
Shbg	A	G	11: 69,507,564 (GRCm39)	I171T	probably damaging	Het
Slc22a14	A	T	9: 119,002,674 (GRCm39)	F404L	probably benign	Het
Slfn9	C	A	11: 82,873,207 (GRCm39)	L565F	probably damaging	Het
Spmip10	G	A	18: 56,727,760 (GRCm39)		probably benign	Het
Trank1	T	A	9: 111,195,180 (GRCm39)	M1068K	probably damaging	Het
Trbv15	A	T	6: 41,118,187 (GRCm39)	I15L	probably benign	Het
Ttn	C	T	2: 76,569,918 (GRCm39)	V26992M	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ugt2b34	T	A	5: 87,054,560 (GRCm39)	I74F	probably damaging	Het
Vamp3	A	G	4: 151,135,477 (GRCm39)	L47P	probably damaging	Het
Zfp143	T	A	7: 109,682,522 (GRCm39)	C363*	probably null	Het
Zfp438	T	C	18: 5,213,761 (GRCm39)	E399G	probably damaging	Het

Other mutations in Slc37a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01585:Slc37a3	APN	6	39,314,196 (GRCm39)	missense	probably damaging	1.00
IGL02447:Slc37a3	APN	6	39,314,129 (GRCm39)	missense	probably benign	0.00
IGL03017:Slc37a3	APN	6	39,326,315 (GRCm39)	missense	probably benign	0.13
IGL03142:Slc37a3	APN	6	39,336,919 (GRCm39)	splice site	probably null
IGL03164:Slc37a3	APN	6	39,322,237 (GRCm39)	missense	probably benign	0.02
R0240:Slc37a3	UTSW	6	39,314,172 (GRCm39)	missense	probably benign	0.02
R0551:Slc37a3	UTSW	6	39,329,688 (GRCm39)	unclassified	probably benign
R1453:Slc37a3	UTSW	6	39,343,877 (GRCm39)	missense	probably damaging	1.00
R1866:Slc37a3	UTSW	6	39,336,902 (GRCm39)	missense	probably damaging	1.00
R2242:Slc37a3	UTSW	6	39,315,739 (GRCm39)	missense	probably benign	0.00
R4410:Slc37a3	UTSW	6	39,315,747 (GRCm39)	missense	probably benign
R4784:Slc37a3	UTSW	6	39,314,157 (GRCm39)	missense	probably benign	0.12
R4983:Slc37a3	UTSW	6	39,329,651 (GRCm39)	nonsense	probably null
R6309:Slc37a3	UTSW	6	39,334,394 (GRCm39)	makesense	probably null
R7849:Slc37a3	UTSW	6	39,341,517 (GRCm39)	missense	possibly damaging	0.74
R7872:Slc37a3	UTSW	6	39,324,244 (GRCm39)	missense	probably damaging	1.00
R7962:Slc37a3	UTSW	6	39,324,325 (GRCm39)	missense	possibly damaging	0.66
R8062:Slc37a3	UTSW	6	39,341,530 (GRCm39)	missense	probably damaging	1.00
R8544:Slc37a3	UTSW	6	39,321,297 (GRCm39)	missense	possibly damaging	0.87
R8811:Slc37a3	UTSW	6	39,322,274 (GRCm39)	missense	probably damaging	0.99
R9431:Slc37a3	UTSW	6	39,324,363 (GRCm39)	missense	possibly damaging	0.93
R9764:Slc37a3	UTSW	6	39,322,844 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc37a3	UTSW	6	39,331,945 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc37a3	UTSW	6	39,327,010 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACAGCCTTAAGAACGTGCCTC -3'
(R):5'- TATCCTGGAAAGCAGTTGGG -3'

Sequencing Primer
(F):5'- GAACGTGCCTCTCTGGATATTTACAG -3'
(R):5'- AAGCAGTTGGGTGTATTGAAACGTC -3'

Posted On

2016-10-24