Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02429:Slc37a1'

293069

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc37a1

Ensembl Gene

ENSMUSG00000024036

Gene Name

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

Synonyms

G3PP

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02429

Quality Score

Status

Chromosome

Chromosomal Location

31505766-31569713 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 31519483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126111 (fasta)

Gene Model

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

AlphaFold

Q8R070

Predicted Effect

probably null
Transcript: ENSMUST00000165149

SMART Domains

Protein: ENSMUSP00000128223
Gene: ENSMUSG00000024036

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 null
Transcript: ENSMUST00000171233

SMART Domains

Protein: ENSMUSP00000126111
Gene: ENSMUSG00000024036

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	A	T	1: 127,687,453 (GRCm39)	D245V	probably damaging	Het
Adamts16	G	A	13: 70,935,289 (GRCm39)		probably benign	Het
Arhgap36	A	G	X: 48,583,583 (GRCm39)	D77G	possibly damaging	Het
Asap1	A	T	15: 64,039,589 (GRCm39)	M187K	probably damaging	Het
Aspm	T	C	1: 139,407,548 (GRCm39)	V2145A	probably benign	Het
Ccn6	T	C	10: 39,030,989 (GRCm39)	N178S	probably benign	Het
Cd46	T	C	1: 194,767,732 (GRCm39)	T110A	probably benign	Het
Chl1	T	A	6: 103,641,770 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,533,896 (GRCm39)	L493S	probably damaging	Het
Col11a2	C	T	17: 34,261,266 (GRCm39)	T72M	probably damaging	Het
Cyfip1	T	A	7: 55,521,730 (GRCm39)		probably benign	Het
Frmd4b	T	C	6: 97,302,390 (GRCm39)		probably benign	Het
Glyr1	A	G	16: 4,837,240 (GRCm39)	M397T	probably benign	Het
Golm2	A	G	2: 121,742,468 (GRCm39)	T306A	probably benign	Het
Gtf2a1l	G	T	17: 88,976,141 (GRCm39)	M1I	probably null	Het
Hdac4	A	G	1: 91,940,417 (GRCm39)	L154P	probably benign	Het
Ints8	A	T	4: 11,231,720 (GRCm39)	C422S	probably damaging	Het
Kng2	T	A	16: 22,830,829 (GRCm39)	K160I	probably damaging	Het
Lrrc23	C	A	6: 124,755,130 (GRCm39)	A136S	probably damaging	Het
Ltf	T	C	9: 110,855,193 (GRCm39)	I402T	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mfsd4a	T	C	1: 131,956,237 (GRCm39)	H509R	probably benign	Het
Mthfd1l	A	G	10: 4,039,334 (GRCm39)	K782E	probably damaging	Het
Mvb12b	G	A	2: 33,717,800 (GRCm39)	R114W	probably damaging	Het
Myh4	A	T	11: 67,149,808 (GRCm39)	K1818*	probably null	Het
Myo1h	C	T	5: 114,497,799 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 27,000,598 (GRCm39)	S1402T	probably benign	Het
Nutm2	A	G	13: 50,623,516 (GRCm39)	N71S	probably benign	Het
Oas1c	C	A	5: 120,940,133 (GRCm39)	M344I	probably benign	Het
Or10g7	T	A	9: 39,905,138 (GRCm39)	F11I	probably benign	Het
Phldb1	A	G	9: 44,612,247 (GRCm39)	L1019P	probably damaging	Het
Plxnc1	T	C	10: 94,718,453 (GRCm39)	E494G	probably benign	Het
Pole	T	C	5: 110,447,666 (GRCm39)	I734T	probably benign	Het
Ppp1r3b	T	C	8: 35,851,769 (GRCm39)	S203P	probably benign	Het
Pth2r	G	T	1: 65,385,998 (GRCm39)	M240I	probably benign	Het
Ptprr	T	A	10: 116,109,672 (GRCm39)	F394I	probably damaging	Het
Rabgef1	T	C	5: 130,239,329 (GRCm39)	S265P	possibly damaging	Het
Rbpjl	A	G	2: 164,255,815 (GRCm39)	D353G	possibly damaging	Het
Rfc3	A	G	5: 151,574,596 (GRCm39)	Y8H	probably benign	Het
Rph3a	A	T	5: 121,118,187 (GRCm39)		probably null	Het
Runx1t1	A	T	4: 13,865,294 (GRCm39)		probably benign	Het
Slc38a10	T	C	11: 120,025,714 (GRCm39)		probably benign	Het
Slc38a6	T	C	12: 73,397,342 (GRCm39)	V328A	probably benign	Het
Slf2	T	C	19: 44,930,167 (GRCm39)	S415P	probably benign	Het
Spata17	C	A	1: 186,872,631 (GRCm39)	R60L	possibly damaging	Het
Svil	T	A	18: 5,118,369 (GRCm39)	D2237E	probably benign	Het
Swap70	T	A	7: 109,863,179 (GRCm39)	N169K	probably benign	Het
Tnfrsf11a	A	G	1: 105,755,443 (GRCm39)	D505G	probably benign	Het
Traf1	A	G	2: 34,839,115 (GRCm39)	V70A	probably benign	Het
Traf3	T	A	12: 111,209,899 (GRCm39)	V165E	probably benign	Het
Trpc5	T	C	X: 143,194,795 (GRCm39)	E570G	probably damaging	Het
Ubash3a	A	G	17: 31,460,279 (GRCm39)	N601S	probably benign	Het
Vmn2r30	C	T	7: 7,337,243 (GRCm39)	C131Y	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,551 (GRCm39)	I221V	probably benign	Het
Vmn2r97	T	A	17: 19,150,596 (GRCm39)	V481E	possibly damaging	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
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
R4826:Slc37a1	UTSW	17	31,541,147 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16