Mutagenetix > Incidental Mutation

Incidental Mutation 'R9440:Slc17a9'

713569

Institutional Source

Beutler Lab

Gene Symbol

Slc17a9

Ensembl Gene

ENSMUSG00000023393

Gene Name

solute carrier family 17, member 9

Synonyms

1700019H03Rik, Vnut

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9440 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180367056-180384073 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180383090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 399 (C399R)

Ref Sequence

ENSEMBL: ENSMUSP00000091771 (fasta)

Gene Model

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

AlphaFold

Q8VCL5

Predicted Effect

probably benign
Transcript: ENSMUST00000094218
AA Change: C399R

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000091771
Gene: ENSMUSG00000023393
AA Change: C399R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	G	A	17: 24,499,452 (GRCm39)	T1359M	probably benign	Het
Acacb	T	A	5: 114,384,085 (GRCm39)	C2205S	possibly damaging	Het
Akap3	A	G	6: 126,841,591 (GRCm39)	E70G	probably benign	Het
Aldh1a3	C	A	7: 66,068,992 (GRCm39)		probably null	Het
Asb4	A	G	6: 5,429,817 (GRCm39)	I352M	probably benign	Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
BC034090	A	G	1: 155,101,961 (GRCm39)	L101P	probably benign	Het
Bms1	A	T	6: 118,382,217 (GRCm39)	D440E	probably benign	Het
Bpifb6	A	T	2: 153,747,914 (GRCm39)	D191V	probably benign	Het
Cfap298	A	T	16: 90,726,832 (GRCm39)	V116E	probably benign	Het
Cfd	T	C	10: 79,726,816 (GRCm39)		probably null	Het
Cnot3	G	A	7: 3,656,560 (GRCm39)	E252K	probably damaging	Het
Col6a3	T	C	1: 90,707,068 (GRCm39)	D2622G	unknown	Het
Crybg2	T	C	4: 133,801,602 (GRCm39)	S612P	probably benign	Het
Cyp4b1	T	C	4: 115,493,581 (GRCm39)	K167R	probably damaging	Het
Gbp3	T	C	3: 142,272,335 (GRCm39)	V279A	possibly damaging	Het
Gipc2	T	C	3: 151,833,706 (GRCm39)	T192A	possibly damaging	Het
Gm3285	T	C	10: 77,697,911 (GRCm39)	V20A		Het
Gorasp2	T	C	2: 70,541,469 (GRCm39)		probably null	Het
Gpr179	A	G	11: 97,229,315 (GRCm39)	S947P	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lrch4	G	A	5: 137,636,051 (GRCm39)	R368Q	probably damaging	Het
Mamdc4	A	G	2: 25,455,600 (GRCm39)	V876A	probably benign	Het
Marf1	A	C	16: 13,938,196 (GRCm39)	D1433E	probably benign	Het
Mcm4	A	T	16: 15,453,175 (GRCm39)	C171*	probably null	Het
Micall1	C	T	15: 79,011,159 (GRCm39)	P510S		Het
Morc3	A	G	16: 93,649,975 (GRCm39)		probably null	Het
Mrpl28	G	T	17: 26,345,266 (GRCm39)	V229F	possibly damaging	Het
Mrps33	A	T	6: 39,782,364 (GRCm39)	Y52*	probably null	Het
Mybphl	T	C	3: 108,282,202 (GRCm39)	I144T	probably benign	Het
Myom1	A	G	17: 71,433,329 (GRCm39)	M1657V	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or5p67	A	G	7: 107,922,037 (GRCm39)	I282T	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Plxna1	T	C	6: 89,318,912 (GRCm39)	K637R	probably benign	Het
Prob1	G	T	18: 35,786,218 (GRCm39)	L679I	possibly damaging	Het
Sgms2	C	A	3: 131,118,718 (GRCm39)	C255F	probably damaging	Het
Smc4	T	A	3: 68,915,455 (GRCm39)		probably null	Het
St14	A	G	9: 31,007,845 (GRCm39)	L578P	probably damaging	Het
Tcaf3	A	T	6: 42,573,906 (GRCm39)	L102*	probably null	Het
Tex15	A	G	8: 34,072,273 (GRCm39)	T2607A	possibly damaging	Het
Trav15-2-dv6-2	T	A	14: 53,886,932 (GRCm39)		probably benign	Het
Trip4	T	C	9: 65,760,234 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,955,709 (GRCm39)	I358V	probably benign	Het
Uroc1	C	A	6: 90,322,353 (GRCm39)	S292R	possibly damaging	Het
Vmn1r5	T	C	6: 56,962,415 (GRCm39)	I30T	possibly damaging	Het
Vps33a	A	T	5: 123,703,047 (GRCm39)	I192N	probably damaging	Het
Vps50	A	G	6: 3,516,724 (GRCm39)	I69V	probably benign	Het
Wdr97	T	C	15: 76,245,064 (GRCm39)	S1176P		Het
Xirp1	G	A	9: 119,847,203 (GRCm39)	T560M	probably damaging	Het
Zfp512	A	T	5: 31,628,359 (GRCm39)	T266S	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
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
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
R9709:Slc17a9	UTSW	2	180,374,321 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTGATTTGGAGTGACCCC -3'
(R):5'- TGTTATCCTCAGGCTGCTGAC -3'

Sequencing Primer
(F):5'- ATTTGGAGTGACCCCTGAGGAC -3'
(R):5'- ATCCTCAGGCTGCTGACATCAG -3'

Posted On

2022-06-15