Mutagenetix > Incidental Mutation

Incidental Mutation 'R6150:Slc17a9'

489172

Institutional Source

Beutler Lab

Gene Symbol

Slc17a9

Ensembl Gene

ENSMUSG00000023393

Gene Name

solute carrier family 17, member 9

Synonyms

1700019H03Rik, Vnut

MMRRC Submission

044297-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180367056-180384073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180379421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 298 (I298V)

Ref Sequence

ENSEMBL: ENSMUSP00000091771 (fasta)

Gene Model

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

AlphaFold

Q8VCL5

Predicted Effect

probably benign
Transcript: ENSMUST00000094218
AA Change: I298V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000091771
Gene: ENSMUSG00000023393
AA Change: I298V

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: ENSMUST00000140955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154882

Meta Mutation Damage Score

0.0659

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (56/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,104,334 (GRCm39)	T74A	probably benign	Het
Arhgef1	T	C	7: 24,618,782 (GRCm39)		probably null	Het
Art1	C	G	7: 101,756,294 (GRCm39)	R162G	probably benign	Het
Boll	T	A	1: 55,309,812 (GRCm39)	I280F	possibly damaging	Het
Cep44	T	C	8: 56,992,840 (GRCm39)	E258G	probably benign	Het
Cutc	T	A	19: 43,748,328 (GRCm39)	V75E	probably damaging	Het
Dtx1	T	C	5: 120,819,428 (GRCm39)	K590R	probably damaging	Het
Eps8	A	T	6: 137,494,172 (GRCm39)	D295E	probably damaging	Het
Erc2	C	A	14: 27,863,248 (GRCm39)	S491Y	probably damaging	Het
F2rl3	G	T	8: 73,489,366 (GRCm39)	A198S	probably benign	Het
Fam83b	G	A	9: 76,399,639 (GRCm39)	T488M	probably damaging	Het
Fitm2	A	G	2: 163,311,994 (GRCm39)	L73P	probably damaging	Het
Fxyd1	T	C	7: 30,754,228 (GRCm39)		probably null	Het
Gm17186	T	C	14: 51,918,183 (GRCm39)		noncoding transcript	Het
Hivep3	C	A	4: 119,591,274 (GRCm39)	S94*	probably null	Het
Ifna1	T	A	4: 88,768,349 (GRCm39)	M9K	probably null	Het
Igsf11	G	A	16: 38,843,711 (GRCm39)	E275K	probably damaging	Het
Itga1	G	A	13: 115,104,769 (GRCm39)	L1086F	probably benign	Het
Itgav	T	C	2: 83,606,780 (GRCm39)	S374P	probably benign	Het
Jmy	A	T	13: 93,577,641 (GRCm39)	N842K	probably benign	Het
Kcnh6	G	A	11: 105,911,557 (GRCm39)	V595M	possibly damaging	Het
Kif13b	T	A	14: 64,989,088 (GRCm39)	I823N	probably damaging	Het
Kif26b	T	C	1: 178,743,111 (GRCm39)	L1069P	probably damaging	Het
Kl	T	A	5: 150,912,318 (GRCm39)	M689K	possibly damaging	Het
Kmt2b	G	T	7: 30,287,902 (GRCm39)		probably benign	Het
Map10	G	A	8: 126,398,328 (GRCm39)	D574N	probably damaging	Het
Mau2	A	T	8: 70,472,487 (GRCm39)	H565Q	probably benign	Het
Myb	A	G	10: 21,017,668 (GRCm39)	I641T	probably damaging	Het
Naaladl2	C	A	3: 24,606,214 (GRCm39)	G15V	probably null	Het
Or10k2	G	A	8: 84,267,782 (GRCm39)	C3Y	probably benign	Het
Or3a4	A	C	11: 73,945,145 (GRCm39)	S147A	probably benign	Het
Or6c210	A	G	10: 129,495,803 (GRCm39)	I43V	probably benign	Het
Or7d11	A	T	9: 19,966,170 (GRCm39)	N78K	probably benign	Het
Otog	A	G	7: 45,913,483 (GRCm39)	E772G	possibly damaging	Het
Pla2g4d	T	C	2: 120,100,045 (GRCm39)	D674G	probably damaging	Het
Pmpcb	A	G	5: 21,942,137 (GRCm39)		probably null	Het
Pomk	A	G	8: 26,473,284 (GRCm39)	V223A	possibly damaging	Het
Prpf40a	T	C	2: 53,047,927 (GRCm39)	M197V	probably benign	Het
Serpina1e	A	G	12: 103,917,066 (GRCm39)	V201A	probably benign	Het
Six5	C	T	7: 18,831,446 (GRCm39)	P646S	probably benign	Het
Slc37a2	G	T	9: 37,149,643 (GRCm39)	T188K	probably damaging	Het
Slc6a11	T	A	6: 114,222,579 (GRCm39)	F525I	probably benign	Het
Slit2	A	T	5: 48,461,516 (GRCm39)	D1504V	probably damaging	Het
Srcap	T	A	7: 127,134,000 (GRCm39)	M907K	probably damaging	Het
Sspo	T	C	6: 48,463,313 (GRCm39)	L3746P	probably benign	Het
Supv3l1	A	T	10: 62,271,501 (GRCm39)	N376K	possibly damaging	Het
Tekt3	A	T	11: 62,985,483 (GRCm39)	T430S	possibly damaging	Het
Tex2	A	T	11: 106,457,906 (GRCm39)	V508D	probably benign	Het
Tmem184c	G	T	8: 78,323,069 (GRCm39)	Q598K	probably benign	Het
Ube2v1	G	A	2: 167,459,874 (GRCm39)	R42*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	Het
Vangl1	T	C	3: 102,091,835 (GRCm39)	T84A	probably damaging	Het
Vgll3	T	A	16: 65,625,064 (GRCm39)		probably null	Het
Vmn1r61	T	A	7: 5,613,678 (GRCm39)	H212L	probably benign	Het
Vmn2r114	A	G	17: 23,510,269 (GRCm39)	V737A	probably benign	Het
Vmn2r35	A	T	7: 7,789,555 (GRCm39)	D727E	probably damaging	Het
Vps18	T	A	2: 119,128,073 (GRCm39)	Y965*	probably null	Het
Zfp521	A	T	18: 13,977,135 (GRCm39)	C1093S	probably damaging	Het
Zfp971	A	C	2: 177,675,247 (GRCm39)	H282P	probably benign	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
R4615:Slc17a9	UTSW	2	180,373,699 (GRCm39)	missense	probably benign
R4921:Slc17a9	UTSW	2	180,377,742 (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'- TAGTGGGCTCAGTTCTTGCC -3'
(R):5'- GCTGACTCTAAAAGATGGTCTGTG -3'

Sequencing Primer
(F):5'- CGAGGACCCTCTGCTTTTAGG -3'
(R):5'- CTAAAAGATGGTCTGTGTGTCATAG -3'

Posted On

2017-10-10