Mutagenetix > Incidental Mutation

Incidental Mutation 'R4721:Slc37a4'

354468

Institutional Source

Beutler Lab

Gene Symbol

Slc37a4

Ensembl Gene

ENSMUSG00000032114

Gene Name

solute carrier family 37 (glucose-6-phosphate transporter), member 4

Synonyms

G6pt1, G6PT

MMRRC Submission

041986-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4721 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44308243-44314263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44312787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 314 (S314P)

Ref Sequence

ENSEMBL: ENSMUSP00000148956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034623] [ENSMUST00000165839] [ENSMUST00000213268] [ENSMUST00000213388] [ENSMUST00000215420] [ENSMUST00000217163] [ENSMUST00000215121] [ENSMUST00000215001] [ENSMUST00000217084]

AlphaFold

A0A1L1SUI3

Predicted Effect

probably benign
Transcript: ENSMUST00000034623

SMART Domains

Protein: ENSMUSP00000034623
Gene: ENSMUSG00000032112

Domain	Start	End	E-Value	Type
Pfam:Sybindin	3	209	2.7e-63	PFAM
Pfam:Sedlin_N	90	207	2.8e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165839
AA Change: S314P

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129564
Gene: ENSMUSG00000032114
AA Change: S314P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	17	381	3.5e-48	PFAM
transmembrane domain	395	417	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184353

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213268
AA Change: S314P

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213388
AA Change: S314P

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213747

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215420
AA Change: S314P

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000217163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215072

Predicted Effect

probably benign
Transcript: ENSMUST00000215121

Predicted Effect

probably benign
Transcript: ENSMUST00000215001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217224

Predicted Effect

probably benign
Transcript: ENSMUST00000217084

Meta Mutation Damage Score

0.1602

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (90/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
PHENOTYPE: Homozygous null mice exhibit disrupted glucose homeostasis, transient neutropenia associated with impaired neutrophil trafficking and function. Mice are growth retarded and, without glucose therapy, die postnatally. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,107 (GRCm39)	D286G	probably benign	Het
Abca15	G	A	7: 119,949,998 (GRCm39)	E491K	probably benign	Het
Acsl5	A	G	19: 55,268,962 (GRCm39)	T208A	probably benign	Het
Adamts10	T	A	17: 33,764,511 (GRCm39)		probably null	Het
Ahcyl1	T	C	3: 107,577,233 (GRCm39)	Q313R	possibly damaging	Het
Ccdc71	C	T	9: 108,340,622 (GRCm39)	S145L	possibly damaging	Het
Cep250	A	G	2: 155,812,119 (GRCm39)	T472A	probably damaging	Het
Copa	T	C	1: 171,931,841 (GRCm39)		probably benign	Het
Crybg1	C	A	10: 43,873,883 (GRCm39)	R1075L	probably damaging	Het
Ddr2	T	A	1: 169,832,809 (GRCm39)	K84*	probably null	Het
Ddx59	C	T	1: 136,344,844 (GRCm39)	P172S	probably benign	Het
Dhx34	T	A	7: 15,931,307 (GRCm39)	Q1118L	possibly damaging	Het
Dkkl1	T	A	7: 44,857,232 (GRCm39)	I112F	probably damaging	Het
Dnah8	T	A	17: 30,944,140 (GRCm39)	C1786S	probably damaging	Het
Eml6	T	A	11: 29,788,525 (GRCm39)	D520V	possibly damaging	Het
Ergic1	T	A	17: 26,857,750 (GRCm39)	V192E	probably damaging	Het
Fat3	T	C	9: 15,941,262 (GRCm39)	E1343G	probably damaging	Het
Fxr1	T	C	3: 34,118,381 (GRCm39)	S535P	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm15446	C	T	5: 110,090,866 (GRCm39)	H373Y	probably damaging	Het
Gpr157	A	T	4: 150,183,420 (GRCm39)	N197Y	probably benign	Het
Grid2	G	A	6: 64,643,185 (GRCm39)	M982I	probably benign	Het
Hey2	G	T	10: 30,710,304 (GRCm39)	R150S	possibly damaging	Het
Hmcn1	T	C	1: 150,648,322 (GRCm39)		probably null	Het
Ighv3-3	G	A	12: 114,160,156 (GRCm39)	R85*	probably null	Het
Ighv5-4	A	T	12: 113,561,060 (GRCm39)		probably benign	Het
Igsf21	A	G	4: 139,834,621 (GRCm39)	S84P	probably benign	Het
Kif20b	A	G	19: 34,915,773 (GRCm39)	T517A	probably benign	Het
Krt87	T	C	15: 101,385,863 (GRCm39)	E244G	probably damaging	Het
Lrp1	T	C	10: 127,390,928 (GRCm39)	T2990A	possibly damaging	Het
Lrp1b	T	A	2: 40,605,381 (GRCm39)		probably null	Het
Lrrc42	A	T	4: 107,091,050 (GRCm39)	S382T	probably benign	Het
Magi2	C	T	5: 20,739,467 (GRCm39)	R737W	probably damaging	Het
Mcc	A	G	18: 44,652,623 (GRCm39)	L267P	probably damaging	Het
Mzf1	T	A	7: 12,777,223 (GRCm39)	Q727L	possibly damaging	Het
Mzf1	C	T	7: 12,777,448 (GRCm39)	R652Q	possibly damaging	Het
Nkain3	C	T	4: 20,485,015 (GRCm39)	A21T	probably damaging	Het
Nlrp4e	T	A	7: 23,020,521 (GRCm39)	V336E	possibly damaging	Het
Nptn	C	T	9: 58,548,059 (GRCm39)	R155C	probably damaging	Het
Nr2c2	T	C	6: 92,116,828 (GRCm39)	I10T	possibly damaging	Het
Or12e13	T	A	2: 87,663,515 (GRCm39)	I44N	probably damaging	Het
Or1e26	C	T	11: 73,480,273 (GRCm39)	C97Y	probably damaging	Het
Or1j13	T	C	2: 36,369,836 (GRCm39)	Y102C	probably benign	Het
Pdzk1	G	T	3: 96,776,518 (GRCm39)	E493*	probably null	Het
Plekhh1	GTCAAA	G	12: 79,122,194 (GRCm39)		probably null	Het
Polr3b	T	C	10: 84,491,867 (GRCm39)	V342A	possibly damaging	Het
Prg3	T	C	2: 84,821,750 (GRCm39)	V125A	possibly damaging	Het
Raph1	G	A	1: 60,542,160 (GRCm39)		probably benign	Het
Rassf2	A	G	2: 131,846,358 (GRCm39)	V133A	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Rbpjl	A	C	2: 164,246,447 (GRCm39)	S31R	probably benign	Het
Reln	A	G	5: 22,124,220 (GRCm39)	V2762A	probably damaging	Het
Rxrg	T	A	1: 167,452,621 (GRCm39)	I141N	probably damaging	Het
Scn7a	C	A	2: 66,514,529 (GRCm39)	G1082C	probably damaging	Het
Selenon	C	A	4: 134,270,387 (GRCm39)	E322*	probably null	Het
Sipa1	C	T	19: 5,710,413 (GRCm39)	R199Q	probably damaging	Het
Slc26a7	A	T	4: 14,510,261 (GRCm39)		probably null	Het
Smarce1	T	C	11: 99,111,543 (GRCm39)	I59V	probably benign	Het
Stk19	T	C	17: 35,042,120 (GRCm39)		probably null	Het
Susd2	C	T	10: 75,473,964 (GRCm39)	D544N	probably benign	Het
Tcf7l2	G	T	19: 55,919,886 (GRCm39)	R465L	possibly damaging	Het
Tfap2d	T	A	1: 19,174,984 (GRCm39)	S146T	possibly damaging	Het
Tmem156	A	G	5: 65,248,870 (GRCm39)	F10S	probably benign	Het
Tmem63c	G	T	12: 87,103,954 (GRCm39)	A68S	possibly damaging	Het
Tnfrsf21	T	C	17: 43,396,395 (GRCm39)	C560R	probably damaging	Het
Trav10n	C	T	14: 53,359,590 (GRCm39)	T7I	probably benign	Het
Ttc38	C	T	15: 85,722,947 (GRCm39)	R132W	probably benign	Het
Tvp23a	T	C	16: 10,245,275 (GRCm39)	K108R	probably benign	Het
Vmn1r233	T	C	17: 21,214,879 (GRCm39)	M24V	probably benign	Het
Vmn1r88	T	A	7: 12,912,451 (GRCm39)	L269*	probably null	Het
Vmn2r101	T	A	17: 19,832,287 (GRCm39)	M761K	probably damaging	Het
Vps13b	C	T	15: 35,910,864 (GRCm39)	Q3543*	probably null	Het
Wdr37	T	C	13: 8,904,065 (GRCm39)	E101G	possibly damaging	Het
Zc3hc1	A	G	6: 30,374,899 (GRCm39)	V214A	probably benign	Het
Zcchc9	A	T	13: 91,948,728 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,347,951 (GRCm39)	Q2110L	possibly damaging	Het
Zfp516	T	G	18: 82,975,236 (GRCm39)	L478R	possibly damaging	Het

Other mutations in Slc37a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Slc37a4	APN	9	44,311,261 (GRCm39)	missense	probably damaging	1.00
IGL03380:Slc37a4	APN	9	44,311,320 (GRCm39)	missense	probably benign	0.00
R1875:Slc37a4	UTSW	9	44,312,808 (GRCm39)	missense	probably damaging	0.98
R5502:Slc37a4	UTSW	9	44,313,394 (GRCm39)	missense	probably benign
R6395:Slc37a4	UTSW	9	44,310,576 (GRCm39)	missense	probably damaging	1.00
R6909:Slc37a4	UTSW	9	44,311,331 (GRCm39)	missense	possibly damaging	0.79
R7579:Slc37a4	UTSW	9	44,312,818 (GRCm39)	missense	probably benign	0.40
R8187:Slc37a4	UTSW	9	44,311,291 (GRCm39)	missense	possibly damaging	0.47
R8339:Slc37a4	UTSW	9	44,313,724 (GRCm39)	missense	probably benign	0.00
R8435:Slc37a4	UTSW	9	44,310,759 (GRCm39)	missense	probably damaging	1.00
R8759:Slc37a4	UTSW	9	44,313,632 (GRCm39)	missense	probably benign	0.14
R9082:Slc37a4	UTSW	9	44,313,016 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GATTGCCAAAGACCTGTCAGC -3'
(R):5'- GTCCAGAAAGCATCCTAGAGAGC -3'

Sequencing Primer
(F):5'- CAATAGCCCTGCTGTGTCAGAG -3'
(R):5'- AACCAGGCCCAGAGTGG -3'

Posted On

2015-10-21