Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01505:Slc37a4'

88999

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc37a4

Ensembl Gene

ENSMUSG00000032114

Gene Name

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

Synonyms

G6pt1, G6PT

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01505

Quality Score

Status

Chromosome

Chromosomal Location

44308243-44314263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44311261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 184 (L184Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148956 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000157773

Predicted Effect

probably damaging
Transcript: ENSMUST00000165839
AA Change: L184Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129564
Gene: ENSMUSG00000032114
AA Change: L184Q

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

probably damaging
Transcript: ENSMUST00000213268
AA Change: L184Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213388
AA Change: L184Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213626

Predicted Effect

probably damaging
Transcript: ENSMUST00000215420
AA Change: L184Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000215001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213747

Predicted Effect

probably benign
Transcript: ENSMUST00000217163

Predicted Effect

probably benign
Transcript: ENSMUST00000217084

Predicted Effect

probably benign
Transcript: ENSMUST00000215121

Coding Region Coverage

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	C	18: 69,080,418 (GRCm39)		probably null	Het
A2m	A	G	6: 121,653,906 (GRCm39)	N1413S	possibly damaging	Het
Aadacl4fm4	C	T	4: 144,401,188 (GRCm39)	V99M	probably damaging	Het
Arhgap45	A	T	10: 79,862,376 (GRCm39)	N488Y	probably benign	Het
Arid4a	G	A	12: 71,083,889 (GRCm39)	D94N	probably damaging	Het
Atp7a	A	G	X: 105,153,436 (GRCm39)	K1114E	probably damaging	Het
Atp8a2	C	T	14: 60,265,512 (GRCm39)	V275M	probably benign	Het
Ceacam12	T	C	7: 17,801,357 (GRCm39)	V112A	probably damaging	Het
Cep295	T	A	9: 15,229,345 (GRCm39)	D2256V	probably benign	Het
Chid1	A	T	7: 141,093,807 (GRCm39)		probably null	Het
Clcn5	A	T	X: 7,036,678 (GRCm39)	L268*	probably null	Het
Cldn17	A	G	16: 88,303,591 (GRCm39)	I46T	possibly damaging	Het
Cnot1	A	T	8: 96,455,346 (GRCm39)	I2025N	probably damaging	Het
Cntn5	C	T	9: 9,706,092 (GRCm39)	V574M	probably damaging	Het
Col14a1	T	A	15: 55,318,619 (GRCm39)	C1373S	unknown	Het
Col9a1	A	G	1: 24,224,205 (GRCm39)	N129S	unknown	Het
Cp	C	T	3: 20,031,356 (GRCm39)	P598S	possibly damaging	Het
Cpb1	G	A	3: 20,320,410 (GRCm39)	R150C	probably damaging	Het
Cyp2j7	T	A	4: 96,115,917 (GRCm39)		probably null	Het
Dnajb7	T	C	15: 81,291,692 (GRCm39)	E215G	possibly damaging	Het
Dock1	G	A	7: 134,760,239 (GRCm39)	R1634Q	possibly damaging	Het
Dop1b	A	G	16: 93,554,004 (GRCm39)	T313A	possibly damaging	Het
Fgd2	T	A	17: 29,585,971 (GRCm39)	V185E	probably damaging	Het
Flnb	T	C	14: 7,902,003 (GRCm38)		probably null	Het
Fzd7	A	G	1: 59,523,062 (GRCm39)	E315G	probably benign	Het
Gjd3	T	A	11: 102,691,552 (GRCm39)	K150N	probably benign	Het
Gpihbp1	C	T	15: 75,469,977 (GRCm39)		probably benign	Het
Gpr160	T	C	3: 30,950,002 (GRCm39)	S25P	possibly damaging	Het
Grsf1	G	A	5: 88,820,608 (GRCm39)	R58*	probably null	Het
Ifit1	T	A	19: 34,625,854 (GRCm39)	M330K	probably benign	Het
Igkv1-122	T	C	6: 67,994,178 (GRCm39)	V22A	probably benign	Het
Ikbke	A	T	1: 131,183,048 (GRCm39)	D692E	probably benign	Het
Il15ra	T	C	2: 11,737,956 (GRCm39)		probably benign	Het
Il18rap	A	G	1: 40,576,244 (GRCm39)	I252V	probably damaging	Het
Klra10	C	T	6: 130,249,680 (GRCm39)	G202R	probably damaging	Het
Kpna7	A	G	5: 144,929,661 (GRCm39)	V388A	probably damaging	Het
L2hgdh	A	G	12: 69,768,175 (GRCm39)	S108P	probably damaging	Het
Msto1	G	A	3: 88,818,050 (GRCm39)	T388M	probably benign	Het
Naip1	T	C	13: 100,562,441 (GRCm39)	E908G	probably damaging	Het
Neto1	C	A	18: 86,491,814 (GRCm39)	D238E	possibly damaging	Het
Nlrp5	T	A	7: 23,117,159 (GRCm39)	D294E	probably benign	Het
Nr3c2	T	C	8: 77,635,816 (GRCm39)	S306P	probably damaging	Het
Or8b41	T	A	9: 38,055,167 (GRCm39)	C240*	probably null	Het
Pard3	T	A	8: 128,050,544 (GRCm39)	L202H	probably damaging	Het
Pdzd2	T	C	15: 12,458,293 (GRCm39)	N190S	probably damaging	Het
Pi4ka	T	C	16: 17,127,222 (GRCm39)	D1077G	probably benign	Het
Pmfbp1	A	C	8: 110,240,543 (GRCm39)	L208F	probably damaging	Het
Pms1	C	T	1: 53,246,130 (GRCm39)	D470N	probably benign	Het
Prdm10	T	C	9: 31,238,578 (GRCm39)	F108L	probably benign	Het
Rab11fip1	A	T	8: 27,644,804 (GRCm39)	M327K	possibly damaging	Het
Smdt1	T	C	15: 82,232,094 (GRCm39)		probably benign	Het
Smg6	A	G	11: 75,047,117 (GRCm39)	Y1270C	probably damaging	Het
Speer4f2	T	A	5: 17,581,565 (GRCm39)	V169E	possibly damaging	Het
Stpg2	C	T	3: 139,023,214 (GRCm39)	A410V	probably benign	Het
Tnrc6b	T	A	15: 80,764,164 (GRCm39)	D555E	probably benign	Het
Tsg101	A	G	7: 46,558,808 (GRCm39)	Y46H	probably damaging	Het
Vmn2r111	G	A	17: 22,767,553 (GRCm39)	S648L	probably benign	Het
Vmn2r73	T	A	7: 85,507,267 (GRCm39)	R682*	probably null	Het
Xkr5	A	T	8: 18,983,514 (GRCm39)	I676N	probably damaging	Het

Other mutations in Slc37a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4721:Slc37a4	UTSW	9	44,312,787 (GRCm39)	missense	possibly damaging	0.67
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

Posted On

2013-12-03