Mutagenetix > Incidental Mutation

Incidental Mutation 'R4410:Slc37a3'

374404

Institutional Source

Beutler Lab

Gene Symbol

Slc37a3

Ensembl Gene

ENSMUSG00000029924

Gene Name

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

Synonyms

MMRRC Submission

041692-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4410 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39334773-39377675 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39338813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 443 (Y443F)

Ref Sequence

ENSEMBL: ENSMUSP00000087709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090243] [ENSMUST00000200961] [ENSMUST00000201448]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000090243
AA Change: Y443F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000087709
Gene: ENSMUSG00000029924
AA Change: Y443F

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000202656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202714

Meta Mutation Damage Score

0.0696

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	T	15: 76,725,512		probably benign	Het
Arrb1	G	T	7: 99,598,296		probably benign	Het
Cadps	A	G	14: 12,822,323	M139T	probably damaging	Het
Casr	A	G	16: 36,500,341	C482R	probably benign	Het
Cdca4	A	T	12: 112,821,879	H76Q	probably benign	Het
Ddias	A	G	7: 92,858,079	L876P	probably benign	Het
Dnah9	T	C	11: 66,085,477	S1249G	possibly damaging	Het
Dnttip1	A	G	2: 164,767,819		probably benign	Het
Eme2	A	G	17: 24,893,624	S160P	probably benign	Het
Fbxw24	A	T	9: 109,608,188	D210E	probably damaging	Het
Folr2	T	C	7: 101,840,674	E129G	probably damaging	Het
Gm7682	A	T	5: 94,445,861	Q15L	probably benign	Het
Herc6	T	A	6: 57,659,679	N793K	possibly damaging	Het
Iqcg	T	G	16: 33,030,816	K262Q	possibly damaging	Het
Lhfpl3	A	G	5: 22,775,692		probably benign	Het
Lmod2	A	C	6: 24,604,630	S535R	probably damaging	Het
Lrp1b	T	A	2: 40,665,082	S342C	possibly damaging	Het
Lrrn3	T	A	12: 41,452,584	Y578F	possibly damaging	Het
Map3k4	T	A	17: 12,248,998	R1050W	probably damaging	Het
Mpp6	C	T	6: 50,198,268	Q520*	probably null	Het
Muc6	T	A	7: 141,637,663	T2301S	possibly damaging	Het
Mycbp2	T	C	14: 103,135,266	E4048G	probably damaging	Het
Myh3	G	C	11: 67,085,032	E297Q	possibly damaging	Het
Nkain3	A	G	4: 20,778,284	V11A	probably benign	Het
Olfr1189	G	A	2: 88,592,421	V206I	probably benign	Het
P3h2	G	C	16: 26,105,290	R132G	possibly damaging	Het
Phgdh	A	G	3: 98,314,275	M447T	probably benign	Het
Pmfbp1	G	A	8: 109,532,063	A667T	probably benign	Het
Psmd2	T	G	16: 20,655,026	C230G	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sorl1	C	A	9: 42,003,992	G1314*	probably null	Het
Spag7	T	C	11: 70,664,862	D83G	probably damaging	Het
St7	C	T	6: 17,854,933	R267*	probably null	Het
Syne2	C	T	12: 76,094,393	S99L	probably damaging	Het
Tacc2	T	G	7: 130,742,211	S2533R	possibly damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Uaca	T	G	9: 60,869,891	V518G	probably damaging	Het
Usp43	T	C	11: 67,855,890	E992G	probably benign	Het
Vmn1r55	A	G	7: 5,147,076	V116A	probably benign	Het
Wdr3	G	A	3: 100,140,227	T844M	probably benign	Het
Wdr7	T	A	18: 63,778,249	M904K	probably damaging	Het
Zbtb39	A	G	10: 127,742,827	I423M	possibly damaging	Het
Zmym1	A	T	4: 127,048,104	C830*	probably null	Het

Other mutations in Slc37a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01585:Slc37a3	APN	6	39337262	missense	probably damaging	1.00
IGL02447:Slc37a3	APN	6	39337195	missense	probably benign	0.00
IGL03017:Slc37a3	APN	6	39349381	missense	probably benign	0.13
IGL03142:Slc37a3	APN	6	39359985	splice site	probably null
IGL03164:Slc37a3	APN	6	39345303	missense	probably benign	0.02
R0240:Slc37a3	UTSW	6	39337238	missense	probably benign	0.02
R0551:Slc37a3	UTSW	6	39352754	unclassified	probably benign
R1453:Slc37a3	UTSW	6	39366943	missense	probably damaging	1.00
R1866:Slc37a3	UTSW	6	39359968	missense	probably damaging	1.00
R2242:Slc37a3	UTSW	6	39338805	missense	probably benign	0.00
R4784:Slc37a3	UTSW	6	39337223	missense	probably benign	0.12
R4983:Slc37a3	UTSW	6	39352717	nonsense	probably null
R5543:Slc37a3	UTSW	6	39355026	missense	probably damaging	1.00
R6309:Slc37a3	UTSW	6	39357460	makesense	probably null
R7849:Slc37a3	UTSW	6	39364583	missense	possibly damaging	0.74
R7872:Slc37a3	UTSW	6	39347310	missense	probably damaging	1.00
R7962:Slc37a3	UTSW	6	39347391	missense	possibly damaging	0.66
R8062:Slc37a3	UTSW	6	39364596	missense	probably damaging	1.00
R8544:Slc37a3	UTSW	6	39344363	missense	possibly damaging	0.87
R8811:Slc37a3	UTSW	6	39345340	missense	probably damaging	0.99
R9431:Slc37a3	UTSW	6	39347429	missense	possibly damaging	0.93
R9764:Slc37a3	UTSW	6	39345910	missense	probably damaging	1.00
Z1177:Slc37a3	UTSW	6	39350076	missense	possibly damaging	0.92
Z1177:Slc37a3	UTSW	6	39355011	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATTAATGCGTCTCGTCAGC -3'
(R):5'- TACAAGCCCCGTTCGTTTGC -3'

Sequencing Primer
(F):5'- GCGTCTCGTCAGCATAATCAAATG -3'
(R):5'- GACTCAGAGTCTCATTTAGCCTAGG -3'

Posted On

2016-03-09