Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03164:Slc37a3'

411558

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc37a3

Ensembl Gene

ENSMUSG00000029924

Gene Name

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

Synonyms

2610507O21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03164

Quality Score

Status

Chromosome

Chromosomal Location

39311707-39354609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39322237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 389 (T389I)

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: T389I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000087709
Gene: ENSMUSG00000029924
AA Change: T389I

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

noncoding transcript
Transcript: ENSMUST00000201208

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,070 (GRCm39)	D256G	probably damaging	Het
Abcb11	A	T	2: 69,122,343 (GRCm39)	L380*	probably null	Het
Aco1	A	T	4: 40,167,116 (GRCm39)	N110I	probably benign	Het
Adamts9	T	C	6: 92,866,918 (GRCm39)	D126G	probably damaging	Het
Anks1b	T	G	10: 89,878,554 (GRCm39)	V121G	probably damaging	Het
Ap1s3	A	G	1: 79,602,887 (GRCm39)	L40P	probably damaging	Het
Cd19	C	A	7: 126,012,681 (GRCm39)	M237I	possibly damaging	Het
Chil6	T	C	3: 106,301,714 (GRCm39)	T129A	probably benign	Het
Chtf18	A	G	17: 25,945,816 (GRCm39)	M94T	probably benign	Het
Clstn2	G	T	9: 97,681,462 (GRCm39)	D59E	possibly damaging	Het
Cplx3	T	C	9: 57,517,278 (GRCm39)	T369A	probably damaging	Het
Ctnnbl1	A	C	2: 157,659,681 (GRCm39)	M253L	probably benign	Het
Erg	T	C	16: 95,210,730 (GRCm39)	T41A	possibly damaging	Het
Gjd3	T	A	11: 102,691,547 (GRCm39)	N152I	possibly damaging	Het
Ints1	A	G	5: 139,738,490 (GRCm39)	L2084P	probably damaging	Het
Isoc1	C	T	18: 58,806,404 (GRCm39)	S238L	probably damaging	Het
Kdm5a	T	A	6: 120,415,980 (GRCm39)	D1633E	probably damaging	Het
Krt76	T	C	15: 101,795,886 (GRCm39)	D428G	possibly damaging	Het
Lrp2	G	T	2: 69,295,043 (GRCm39)	T3425K	probably damaging	Het
Lta4h	T	C	10: 93,306,659 (GRCm39)		probably benign	Het
Nap1l4	C	T	7: 143,091,953 (GRCm39)		probably null	Het
Nlrp5	T	A	7: 23,117,798 (GRCm39)	Y507*	probably null	Het
Nps	T	C	7: 134,874,039 (GRCm39)	S53P	probably damaging	Het
Oprk1	A	T	1: 5,669,087 (GRCm39)	I178F	probably damaging	Het
Or2a12	C	T	6: 42,905,064 (GRCm39)	R300*	probably null	Het
Or5p1	T	C	7: 107,916,901 (GRCm39)	S267P	probably damaging	Het
Osgin2	G	T	4: 16,001,938 (GRCm39)	S204R	probably benign	Het
Otop1	G	T	5: 38,445,306 (GRCm39)	G155*	probably null	Het
Peli3	A	G	19: 4,986,144 (GRCm39)		probably null	Het
Pex7	T	A	10: 19,770,461 (GRCm39)		probably benign	Het
Pfkm	T	C	15: 98,029,843 (GRCm39)	L749P	probably damaging	Het
Pwp1	T	A	10: 85,714,367 (GRCm39)	F103Y	probably benign	Het
Rhod	T	C	19: 4,482,829 (GRCm39)	K63E	possibly damaging	Het
Rtl1	T	C	12: 109,559,367 (GRCm39)	E824G	probably damaging	Het
Sema4d	A	G	13: 51,862,958 (GRCm39)	F467L	possibly damaging	Het
Septin10	T	C	10: 59,016,921 (GRCm39)	E201G	probably damaging	Het
Slco2b1	C	T	7: 99,334,743 (GRCm39)	A243T	probably damaging	Het
Sorbs2	A	G	8: 46,235,911 (GRCm39)	T187A	probably benign	Het
Supt20	T	A	3: 54,620,609 (GRCm39)	D389E	probably benign	Het
Tchh	A	G	3: 93,352,699 (GRCm39)	D713G	unknown	Het
Trappc10	T	C	10: 78,056,076 (GRCm39)	R209G	probably damaging	Het
Unc119	A	G	11: 78,239,002 (GRCm39)	D176G	probably damaging	Het
Usb1	G	A	8: 96,060,112 (GRCm39)	R21Q	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
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
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

Posted On

2016-08-02