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

2610507O21Rik

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

39311707-39354609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39315747 bp (GRCm39)

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: 76,609,712 (GRCm39)		probably benign	Het
Arrb1	G	T	7: 99,247,503 (GRCm39)		probably benign	Het
Cadps	A	G	14: 12,822,323 (GRCm38)	M139T	probably damaging	Het
Casr	A	G	16: 36,320,703 (GRCm39)	C482R	probably benign	Het
Cdca4	A	T	12: 112,785,499 (GRCm39)	H76Q	probably benign	Het
Ddias	A	G	7: 92,507,287 (GRCm39)	L876P	probably benign	Het
Dnah9	T	C	11: 65,976,303 (GRCm39)	S1249G	possibly damaging	Het
Dnttip1	A	G	2: 164,609,739 (GRCm39)		probably benign	Het
Eme2	A	G	17: 25,112,598 (GRCm39)	S160P	probably benign	Het
Fbxw24	A	T	9: 109,437,256 (GRCm39)	D210E	probably damaging	Het
Folr2	T	C	7: 101,489,881 (GRCm39)	E129G	probably damaging	Het
Herc6	T	A	6: 57,636,664 (GRCm39)	N793K	possibly damaging	Het
Iqcg	T	G	16: 32,851,186 (GRCm39)	K262Q	possibly damaging	Het
Lhfpl3	A	G	5: 22,980,690 (GRCm39)		probably benign	Het
Lmod2	A	C	6: 24,604,629 (GRCm39)	S535R	probably damaging	Het
Lrp1b	T	A	2: 40,555,094 (GRCm39)	S342C	possibly damaging	Het
Lrrn3	T	A	12: 41,502,583 (GRCm39)	Y578F	possibly damaging	Het
Map3k4	T	A	17: 12,467,885 (GRCm39)	R1050W	probably damaging	Het
Muc6	T	A	7: 141,217,576 (GRCm39)	T2301S	possibly damaging	Het
Mycbp2	T	C	14: 103,372,702 (GRCm39)	E4048G	probably damaging	Het
Myh3	G	C	11: 66,975,858 (GRCm39)	E297Q	possibly damaging	Het
Nkain3	A	G	4: 20,778,284 (GRCm39)	V11A	probably benign	Het
Or4c102	G	A	2: 88,422,765 (GRCm39)	V206I	probably benign	Het
P3h2	G	C	16: 25,924,040 (GRCm39)	R132G	possibly damaging	Het
Pals2	C	T	6: 50,175,248 (GRCm39)	Q520*	probably null	Het
Phgdh	A	G	3: 98,221,591 (GRCm39)	M447T	probably benign	Het
Pmfbp1	G	A	8: 110,258,695 (GRCm39)	A667T	probably benign	Het
Pramel41	A	T	5: 94,593,720 (GRCm39)	Q15L	probably benign	Het
Psmd2	T	G	16: 20,473,776 (GRCm39)	C230G	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Sorl1	C	A	9: 41,915,288 (GRCm39)	G1314*	probably null	Het
Spag7	T	C	11: 70,555,688 (GRCm39)	D83G	probably damaging	Het
St7	C	T	6: 17,854,932 (GRCm39)	R267*	probably null	Het
Syne2	C	T	12: 76,141,167 (GRCm39)	S99L	probably damaging	Het
Tacc2	T	G	7: 130,343,941 (GRCm39)	S2533R	possibly damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Uaca	T	G	9: 60,777,173 (GRCm39)	V518G	probably damaging	Het
Usp43	T	C	11: 67,746,716 (GRCm39)	E992G	probably benign	Het
Vmn1r55	A	G	7: 5,150,075 (GRCm39)	V116A	probably benign	Het
Wdr3	G	A	3: 100,047,543 (GRCm39)	T844M	probably benign	Het
Wdr7	T	A	18: 63,911,320 (GRCm39)	M904K	probably damaging	Het
Zbtb39	A	G	10: 127,578,696 (GRCm39)	I423M	possibly damaging	Het
Zmym1	A	T	4: 126,941,897 (GRCm39)	C830*	probably null	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
R4784:Slc37a3	UTSW	6	39,314,157 (GRCm39)	missense	probably benign	0.12
R4983:Slc37a3	UTSW	6	39,329,651 (GRCm39)	nonsense	probably null
R5543:Slc37a3	UTSW	6	39,331,960 (GRCm39)	missense	probably damaging	1.00
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'- GATTAATGCGTCTCGTCAGC -3'
(R):5'- TACAAGCCCCGTTCGTTTGC -3'

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

Posted On

2016-03-09