Mutagenetix > Incidental Mutation

Incidental Mutation 'R4615:Slc17a9'

345004

Institutional Source

Beutler Lab

Gene Symbol

Slc17a9

Ensembl Gene

ENSMUSG00000023393

Gene Name

solute carrier family 17, member 9

Synonyms

1700019H03Rik, Vnut

MMRRC Submission

041826-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4615 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180367056-180384073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180373699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 40 (I40T)

Ref Sequence

ENSEMBL: ENSMUSP00000091771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094218]

AlphaFold

Q8VCL5

Predicted Effect

probably benign
Transcript: ENSMUST00000094218
AA Change: I40T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091771
Gene: ENSMUSG00000023393
AA Change: I40T

Domain	Start	End	E-Value	Type
Pfam:MFS_1	40	398	2.3e-53	PFAM
transmembrane domain	411	433	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154882

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous knockout affects the neuroendocrine system, resulting in hypoglycemia, increased glucose tolerance and increased insulin sensitivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,369,493 (GRCm39)	I363V	probably benign	Het
Abcc9	C	G	6: 142,634,833 (GRCm39)	A144P	possibly damaging	Het
Adgrv1	C	T	13: 81,642,688 (GRCm39)		probably null	Het
Adprhl1	A	G	8: 13,292,250 (GRCm39)		probably null	Het
Angptl3	A	T	4: 98,919,598 (GRCm39)	E119D	probably benign	Het
Atp8b1	T	C	18: 64,686,170 (GRCm39)	N671S	probably null	Het
C9	A	G	15: 6,520,944 (GRCm39)	D51G	probably damaging	Het
Carmil2	A	G	8: 106,421,706 (GRCm39)	D1019G	possibly damaging	Het
Cdh8	A	T	8: 100,006,254 (GRCm39)	I111K	probably damaging	Het
Cep120	T	C	18: 53,847,913 (GRCm39)	R649G	probably damaging	Het
Clptm1l	A	T	13: 73,755,857 (GRCm39)	K158*	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnga1	A	C	5: 72,762,117 (GRCm39)	L466V	probably damaging	Het
Cpsf1	T	C	15: 76,481,137 (GRCm39)	T1240A	possibly damaging	Het
Cubn	A	G	2: 13,433,560 (GRCm39)	S1117P	probably damaging	Het
Cyp2b9	T	A	7: 25,900,550 (GRCm39)	L396Q	probably damaging	Het
Cyp8b1	A	T	9: 121,745,164 (GRCm39)	L56*	probably null	Het
Dcbld2	A	G	16: 58,276,457 (GRCm39)	T458A	probably benign	Het
Dio2	G	T	12: 90,696,595 (GRCm39)	P131Q	probably damaging	Het
Dlg5	T	C	14: 24,208,236 (GRCm39)	Y990C	probably damaging	Het
Dsc3	T	C	18: 20,104,545 (GRCm39)	D594G	possibly damaging	Het
Dsp	A	G	13: 38,375,608 (GRCm39)	E1131G	probably damaging	Het
Fdx1	A	T	9: 51,859,945 (GRCm39)	Y21*	probably null	Het
Gal3st4	A	G	5: 138,264,525 (GRCm39)	V158A	probably damaging	Het
Gm10269	T	A	18: 20,815,820 (GRCm39)	E67D	probably benign	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Gng2	C	T	14: 19,941,395 (GRCm39)	V16I	possibly damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Itprid2	A	G	2: 79,492,726 (GRCm39)	E1091G	probably damaging	Het
Lama2	C	A	10: 26,857,520 (GRCm39)	V3110F	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtmr4	T	C	11: 87,501,761 (GRCm39)	L548S	probably damaging	Het
Ncapg	A	T	5: 45,844,741 (GRCm39)	M579L	probably benign	Het
Oog3	A	T	4: 143,884,899 (GRCm39)	Y346N	probably benign	Het
Or10ak14	T	C	4: 118,611,334 (GRCm39)	T134A	probably benign	Het
Or14c39	T	C	7: 86,343,936 (GRCm39)	S91P	probably damaging	Het
Orm2	A	G	4: 63,281,536 (GRCm39)	D89G	probably damaging	Het
Pcdhb4	T	A	18: 37,441,553 (GRCm39)	S288T	probably benign	Het
Pcsk2	G	T	2: 143,637,889 (GRCm39)	C375F	probably damaging	Het
Pdcd10	T	C	3: 75,428,398 (GRCm39)	I138M	probably damaging	Het
Pde8a	T	C	7: 80,970,485 (GRCm39)	W536R	probably damaging	Het
Phkg2	C	T	7: 127,176,792 (GRCm39)	R61W	probably damaging	Het
Plcl1	A	T	1: 55,737,293 (GRCm39)	N878I	probably benign	Het
Prkdc	A	T	16: 15,480,938 (GRCm39)	D353V	probably damaging	Het
Psme4	C	T	11: 30,784,287 (GRCm39)	T954I	probably benign	Het
Ran	A	G	5: 129,099,162 (GRCm39)	I115V	probably benign	Het
Reln	A	G	5: 22,177,870 (GRCm39)	L1867P	possibly damaging	Het
S100a1	A	G	3: 90,418,562 (GRCm39)	V84A	possibly damaging	Het
Sall2	G	A	14: 52,550,207 (GRCm39)	P994L	probably benign	Het
Shtn1	A	T	19: 59,010,648 (GRCm39)	I273N	probably benign	Het
Slc29a2	T	C	19: 5,079,292 (GRCm39)	V305A	probably damaging	Het
Taar2	T	A	10: 23,817,263 (GRCm39)	F268I	probably benign	Het
Taf3	G	A	2: 9,956,901 (GRCm39)	T422I	probably damaging	Het
Tgs1	T	C	4: 3,585,156 (GRCm39)	F99L	probably damaging	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Ttn	A	G	2: 76,597,219 (GRCm39)	I19898T	probably damaging	Het
Ulk1	G	T	5: 110,936,912 (GRCm39)	T3N	probably damaging	Het
Vars1	A	T	17: 35,232,857 (GRCm39)	K900N	probably damaging	Het
Vmn2r15	A	G	5: 109,441,348 (GRCm39)	V170A	possibly damaging	Het
Vmn2r53	A	T	7: 12,316,229 (GRCm39)	L530Q	probably damaging	Het
Zar1l	G	T	5: 150,441,528 (GRCm39)	Q33K	probably benign	Het
Zdhhc16	T	C	19: 41,932,122 (GRCm39)	V358A	possibly damaging	Het

Other mutations in Slc17a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02110:Slc17a9	APN	2	180,374,369 (GRCm39)	splice site	probably benign
IGL02334:Slc17a9	APN	2	180,382,536 (GRCm39)	critical splice donor site	probably null
IGL02383:Slc17a9	APN	2	180,377,674 (GRCm39)	missense	probably benign	0.29
IGL02685:Slc17a9	APN	2	180,375,602 (GRCm39)	missense	probably damaging	0.98
IGL03025:Slc17a9	APN	2	180,381,609 (GRCm39)	splice site	probably null
IGL03338:Slc17a9	APN	2	180,382,311 (GRCm39)	splice site	probably benign
R2219:Slc17a9	UTSW	2	180,373,755 (GRCm39)	missense	probably benign
R4921:Slc17a9	UTSW	2	180,377,742 (GRCm39)	missense	probably benign	0.00
R6150:Slc17a9	UTSW	2	180,379,421 (GRCm39)	missense	probably benign	0.00
R6217:Slc17a9	UTSW	2	180,379,455 (GRCm39)	missense	probably benign	0.12
R7342:Slc17a9	UTSW	2	180,378,555 (GRCm39)	missense	probably damaging	1.00
R8120:Slc17a9	UTSW	2	180,374,308 (GRCm39)	missense	probably benign	0.00
R8936:Slc17a9	UTSW	2	180,380,210 (GRCm39)	missense	probably benign	0.07
R9440:Slc17a9	UTSW	2	180,383,090 (GRCm39)	missense	probably benign	0.18
R9709:Slc17a9	UTSW	2	180,374,321 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTATTAACCTGCCGAAATCCCC -3'
(R):5'- CAGGTGATGGTAATGATCCCC -3'

Sequencing Primer
(F):5'- ATCCCCACCGAAGAAGTTATC -3'
(R):5'- GTGATGGTAATGATCCCCCTCAG -3'

Posted On

2015-09-25