Mutagenetix > Incidental Mutation

Incidental Mutation 'R6217:Slc17a9'

503763

Institutional Source

Beutler Lab

Gene Symbol

Slc17a9

Ensembl Gene

ENSMUSG00000023393

Gene Name

solute carrier family 17, member 9

Synonyms

1700019H03Rik, Vnut

MMRRC Submission

044350-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6217 (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 180379455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 309 (D309G)

Ref Sequence

ENSEMBL: ENSMUSP00000091771 (fasta)

Gene Model

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

AlphaFold

Q8VCL5

Predicted Effect

probably benign
Transcript: ENSMUST00000094218
AA Change: D309G

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000091771
Gene: ENSMUSG00000023393
AA Change: D309G

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

0.2845

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Adamts20	T	C	15: 94,236,596 (GRCm39)	D808G	probably benign	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arsk	T	A	13: 76,239,935 (GRCm39)	Q46L	unknown	Het
Asnsd1	A	G	1: 53,387,187 (GRCm39)	F147L	probably benign	Het
Atp5f1a	T	A	18: 77,869,056 (GRCm39)	S427T	probably benign	Het
Atp6v1b2	A	C	8: 69,562,530 (GRCm39)		probably null	Het
AU021092	T	A	16: 5,030,050 (GRCm39)	T322S	possibly damaging	Het
Bcl7c	A	T	7: 127,307,698 (GRCm39)	M1K	probably null	Het
Cacna1i	T	C	15: 80,273,333 (GRCm39)	V1673A	probably damaging	Het
Ccdc146	A	T	5: 21,522,900 (GRCm39)		probably null	Het
Cdc7	A	G	5: 107,120,660 (GRCm39)	D122G	probably damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Chd3	T	A	11: 69,236,361 (GRCm39)	Q1950L	probably damaging	Het
Cutc	T	C	19: 43,748,436 (GRCm39)	L111S	probably damaging	Het
Cyp2j6	A	G	4: 96,406,398 (GRCm39)	F458L	probably damaging	Het
Ddhd1	T	C	14: 45,856,971 (GRCm39)		probably null	Het
Dstyk	T	C	1: 132,387,677 (GRCm39)	S804P	probably damaging	Het
Ech1	A	G	7: 28,531,261 (GRCm39)	D283G	possibly damaging	Het
Exosc10	A	G	4: 148,666,768 (GRCm39)		probably null	Het
Fancg	A	C	4: 43,010,084 (GRCm39)	V5G	probably benign	Het
Fbxo11	A	G	17: 88,316,332 (GRCm39)	V394A	probably benign	Het
Fcmr	C	T	1: 130,806,060 (GRCm39)	R339W	probably damaging	Het
Fhip2b	T	C	14: 70,829,198 (GRCm39)		probably null	Het
Fsip2	T	A	2: 82,818,762 (GRCm39)	L4832M	possibly damaging	Het
Gab1	A	G	8: 81,518,237 (GRCm39)	V125A	possibly damaging	Het
Gabrr1	A	T	4: 33,149,026 (GRCm39)		probably null	Het
Gon4l	T	C	3: 88,799,968 (GRCm39)	V871A	possibly damaging	Het
Hspg2	A	G	4: 137,267,559 (GRCm39)	T2056A	probably damaging	Het
Lrrc3	T	A	10: 77,736,843 (GRCm39)	T198S	probably benign	Het
Lsamp	A	T	16: 41,954,675 (GRCm39)	E174V	possibly damaging	Het
Ltbr	C	T	6: 125,284,417 (GRCm39)	V342M	probably damaging	Het
Muc16	A	T	9: 18,566,742 (GRCm39)	S1926T	unknown	Het
Ntn1	C	A	11: 68,104,158 (GRCm39)	V497F	possibly damaging	Het
Or2ag18	A	T	7: 106,405,279 (GRCm39)	L130Q	probably damaging	Het
Or5k17	T	C	16: 58,746,877 (GRCm39)	D19G	probably benign	Het
Or8g22	A	T	9: 38,958,039 (GRCm39)	*270R	probably null	Het
Osmr	T	C	15: 6,853,047 (GRCm39)	Y615C	probably damaging	Het
Pcdhgb2	T	C	18: 37,823,054 (GRCm39)	V15A	possibly damaging	Het
Pkd2l2	A	G	18: 34,547,733 (GRCm39)	N162S	probably benign	Het
Ppp1r12a	G	A	10: 108,076,045 (GRCm39)		probably null	Het
Prss59	G	A	6: 40,903,019 (GRCm39)	P118S	possibly damaging	Het
Prtg	C	T	9: 72,812,076 (GRCm39)	P899S	probably damaging	Het
Ptprn	A	T	1: 75,224,810 (GRCm39)	S912R	probably damaging	Het
Rex2	A	G	4: 147,141,931 (GRCm39)	T140A	possibly damaging	Het
Ryr2	T	G	13: 11,848,964 (GRCm39)	D339A	probably damaging	Het
Sf3b1	C	T	1: 55,046,677 (GRCm39)	R289H	probably damaging	Het
Slc4a10	A	G	2: 62,134,295 (GRCm39)	R1004G	probably benign	Het
Sprr2f	A	T	3: 92,273,366 (GRCm39)	Q55L	unknown	Het
Syne1	C	T	10: 5,243,761 (GRCm39)	G2801D	probably benign	Het
Tenm3	A	T	8: 48,746,700 (GRCm39)	V1026D	probably damaging	Het
Ticam1	A	T	17: 56,577,730 (GRCm39)	I455N	probably damaging	Het
Tmem161b	A	G	13: 84,399,363 (GRCm39)	I6M	possibly damaging	Het
Ubn1	A	G	16: 4,895,096 (GRCm39)	E714G	probably damaging	Het
Ush2a	T	G	1: 188,475,651 (GRCm39)		probably null	Het
Usp19	G	A	9: 108,377,343 (GRCm39)	V874M	probably damaging	Het
Vmn2r106	T	C	17: 20,488,501 (GRCm39)	T633A	probably benign	Het
Vmn2r75	A	T	7: 85,815,375 (GRCm39)		probably benign	Het
Zfyve27	T	C	19: 42,178,016 (GRCm39)	V386A	probably damaging	Het
Zscan20	A	T	4: 128,498,327 (GRCm39)	W24R	probably 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
R4615:Slc17a9	UTSW	2	180,373,699 (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
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'- GCTTTTAGGCCCAACCAGTG -3'
(R):5'- GGGGTCCAGTATCTTCTTGC -3'

Sequencing Primer
(F):5'- TGGACAGAAATCAACTGACATGGTG -3'
(R):5'- AAGACACTCTGGGCTCCTCAG -3'

Posted On

2018-02-27