Mutagenetix > Incidental Mutation

Incidental Mutation 'R4826:Slc37a1'

374168

Institutional Source

Beutler Lab

Gene Symbol

Slc37a1

Ensembl Gene

ENSMUSG00000024036

Gene Name

solute carrier family 37 (glycerol-3-phosphate transporter), member 1

Synonyms

G3PP

MMRRC Submission

042442-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31505766-31569713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31541147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 213 (Y213C)

Ref Sequence

ENSEMBL: ENSMUSP00000126111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165149] [ENSMUST00000171233]

AlphaFold

Q8R070

Predicted Effect

probably damaging
Transcript: ENSMUST00000165149
AA Change: Y213C

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

SMART Domains

Protein: ENSMUSP00000128223
Gene: ENSMUSG00000024036
AA Change: Y213C

Domain	Start	End	E-Value	Type
Pfam:MFS_1	21	452	6.7e-33	PFAM
transmembrane domain	462	484	N/A	INTRINSIC
transmembrane domain	489	511	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171233
AA Change: Y213C

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

SMART Domains

Protein: ENSMUSP00000126111
Gene: ENSMUSG00000024036
AA Change: Y213C

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	452	3.5e-33	PFAM
transmembrane domain	462	484	N/A	INTRINSIC
transmembrane domain	489	511	N/A	INTRINSIC

Meta Mutation Damage Score

0.1340

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to the endoplasmic reticulum (ER) membrane. This protein translocates glucose-6-phosphate from the cytoplasm into the lumen of the ER for hydrolysis into glucose by another ER membrane protein. This gene is a member of the solute carrier 37 gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,815,470 (GRCm39)	R239S	probably damaging	Het
Acin1	A	G	14: 54,902,074 (GRCm39)	S573P	probably damaging	Het
Acta2	A	T	19: 34,229,223 (GRCm39)	Y55*	probably null	Het
Aifm2	T	C	10: 61,561,768 (GRCm39)	M38T	probably benign	Het
Ank2	C	A	3: 126,749,650 (GRCm39)	V460L	probably benign	Het
Ap1b1	T	C	11: 4,968,043 (GRCm39)	S185P	probably benign	Het
Arsj	A	G	3: 126,232,451 (GRCm39)	Y399C	probably damaging	Het
Ciao3	A	G	17: 25,999,306 (GRCm39)	H240R	probably damaging	Het
Clec2d	T	C	6: 129,161,122 (GRCm39)	V73A	probably benign	Het
Cntln	T	G	4: 84,923,281 (GRCm39)	M582R	probably benign	Het
Cyp4a10	C	T	4: 115,375,541 (GRCm39)	P8L	probably benign	Het
Dip2b	A	G	15: 100,067,162 (GRCm39)	N555D	probably damaging	Het
Dusp4	T	A	8: 35,285,671 (GRCm39)	F311I	probably damaging	Het
Eif4g3	T	C	4: 137,905,256 (GRCm39)	V1245A	possibly damaging	Het
Ephb3	G	A	16: 21,033,745 (GRCm39)	R23H	possibly damaging	Het
Ext2	T	C	2: 93,592,975 (GRCm39)	T410A	probably benign	Het
Fam193a	A	G	5: 34,593,875 (GRCm39)	E124G	probably damaging	Het
Fat4	T	A	3: 39,037,106 (GRCm39)	V3586E	probably damaging	Het
Frmd4a	T	C	2: 4,606,108 (GRCm39)	S611P	probably damaging	Het
Gcn1	A	G	5: 115,731,752 (GRCm39)	T956A	probably benign	Het
Gm10549	C	A	18: 33,603,838 (GRCm39)	T107K	unknown	Het
Herc6	T	A	6: 57,624,072 (GRCm39)	M614K	probably benign	Het
Hspg2	T	C	4: 137,292,706 (GRCm39)	C4095R	probably damaging	Het
Hyal5	T	C	6: 24,891,575 (GRCm39)	I463T	possibly damaging	Het
Icam5	C	T	9: 20,949,099 (GRCm39)	A817V	possibly damaging	Het
Igf2r	A	T	17: 12,920,240 (GRCm39)	D1366E	probably damaging	Het
Ints7	G	A	1: 191,344,018 (GRCm39)	V553I	probably damaging	Het
Iqgap2	T	A	13: 95,899,783 (GRCm39)	I92F	probably damaging	Het
Itgb1	T	A	8: 129,446,789 (GRCm39)	C435S	probably damaging	Het
Lrrc71	T	C	3: 87,650,615 (GRCm39)	M216V	probably benign	Het
Mgam	T	C	6: 40,657,582 (GRCm39)	V979A	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myh9	A	T	15: 77,673,146 (GRCm39)	Y400*	probably null	Het
Nbeal1	A	G	1: 60,290,501 (GRCm39)	R1033G	possibly damaging	Het
Nit1	T	C	1: 171,173,166 (GRCm39)		probably benign	Het
Nlrp1c-ps	A	G	11: 71,133,343 (GRCm39)		noncoding transcript	Het
Nt5c1a	T	C	4: 123,102,365 (GRCm39)	V97A	probably damaging	Het
Or12k5	A	G	2: 36,895,345 (GRCm39)	Y94H	probably damaging	Het
Or13a18	T	A	7: 140,190,232 (GRCm39)	M51K	probably benign	Het
Or1a1b	A	G	11: 74,097,157 (GRCm39)	M295T	possibly damaging	Het
Or56a5	G	T	7: 104,793,175 (GRCm39)	N108K	probably damaging	Het
Or9m1	T	A	2: 87,733,693 (GRCm39)	D109V	probably damaging	Het
Pde4a	T	A	9: 21,103,676 (GRCm39)		probably null	Het
Pkn2	T	C	3: 142,515,270 (GRCm39)	K640R	probably damaging	Het
Pla2g6	A	G	15: 79,192,879 (GRCm39)	S263P	possibly damaging	Het
Prkg1	A	G	19: 31,742,006 (GRCm39)	S73P	possibly damaging	Het
Prr27	A	C	5: 87,998,825 (GRCm39)		probably benign	Het
Rad54b	G	T	4: 11,599,753 (GRCm39)	W319L	probably damaging	Het
Rassf8	T	A	6: 145,762,276 (GRCm39)	L349H	probably damaging	Het
Rmc1	G	T	18: 12,318,836 (GRCm39)		probably benign	Het
Rnf113a2	T	A	12: 84,464,388 (GRCm39)	N93K	probably benign	Het
Sapcd2	C	T	2: 25,262,768 (GRCm39)	A109V	probably benign	Het
Slamf9	C	A	1: 172,304,008 (GRCm39)	H118N	probably benign	Het
Slc5a1	A	G	5: 33,316,494 (GRCm39)	D580G	probably benign	Het
Slc7a2	T	A	8: 41,364,083 (GRCm39)	I432N	probably damaging	Het
Tas2r114	A	T	6: 131,666,800 (GRCm39)	L76Q	probably damaging	Het
Tcerg1	C	T	18: 42,668,180 (GRCm39)	P391L	unknown	Het
Tdrd12	A	C	7: 35,203,582 (GRCm39)	V314G	probably benign	Het
Zbtb7b	A	G	3: 89,288,080 (GRCm39)	L246S	probably benign	Het

Other mutations in Slc37a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01594:Slc37a1	APN	17	31,538,122 (GRCm39)	nonsense	probably null
IGL01829:Slc37a1	APN	17	31,541,180 (GRCm39)	missense	possibly damaging	0.72
IGL02429:Slc37a1	APN	17	31,519,483 (GRCm39)	critical splice donor site	probably null
IGL02716:Slc37a1	APN	17	31,547,135 (GRCm39)	missense	possibly damaging	0.57
gluttony	UTSW	17	31,557,964 (GRCm39)	missense	possibly damaging	0.95
R1019:Slc37a1	UTSW	17	31,534,568 (GRCm39)	missense	probably benign	0.00
R1675:Slc37a1	UTSW	17	31,557,048 (GRCm39)	missense	probably damaging	0.99
R1768:Slc37a1	UTSW	17	31,552,652 (GRCm39)	missense	possibly damaging	0.53
R1822:Slc37a1	UTSW	17	31,519,405 (GRCm39)	start gained	probably benign
R3685:Slc37a1	UTSW	17	31,544,667 (GRCm39)	missense	probably benign	0.36
R4989:Slc37a1	UTSW	17	31,541,120 (GRCm39)	missense	probably damaging	0.98
R5326:Slc37a1	UTSW	17	31,559,236 (GRCm39)	missense	probably damaging	1.00
R5542:Slc37a1	UTSW	17	31,559,236 (GRCm39)	missense	probably damaging	1.00
R5588:Slc37a1	UTSW	17	31,565,431 (GRCm39)	missense	probably damaging	1.00
R5609:Slc37a1	UTSW	17	31,556,982 (GRCm39)	missense	possibly damaging	0.67
R6479:Slc37a1	UTSW	17	31,557,964 (GRCm39)	missense	possibly damaging	0.95
R7409:Slc37a1	UTSW	17	31,559,237 (GRCm39)	missense	probably damaging	1.00
R7743:Slc37a1	UTSW	17	31,535,159 (GRCm39)	missense	probably damaging	1.00
R8140:Slc37a1	UTSW	17	31,541,233 (GRCm39)	missense	probably damaging	0.99
R9061:Slc37a1	UTSW	17	31,556,365 (GRCm39)	missense	probably damaging	1.00
R9115:Slc37a1	UTSW	17	31,534,486 (GRCm39)	missense	probably damaging	1.00
R9264:Slc37a1	UTSW	17	31,519,459 (GRCm39)	missense	probably benign
R9323:Slc37a1	UTSW	17	31,552,643 (GRCm39)	missense	probably damaging	1.00
R9786:Slc37a1	UTSW	17	31,556,965 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCATTCTTGCCCTAAAAGCTG -3'
(R):5'- TTTGTACAGGGCCTGGCTAG -3'

Sequencing Primer
(F):5'- TGCCCTAAAAGCTGATCTCATGG -3'
(R):5'- TGAATACGGGCTCGGACCTAC -3'

Posted On

2016-03-01