Mutagenetix > Incidental Mutation

Incidental Mutation 'R1759:Slc18a1'

195188

Institutional Source

Beutler Lab

Gene Symbol

Slc18a1

Ensembl Gene

ENSMUSG00000036330

Gene Name

solute carrier family 18 (vesicular monoamine), member 1

Synonyms

4832416I10Rik

MMRRC Submission

039791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69490363-69541887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69518237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 259 (I259T)

Ref Sequence

ENSEMBL: ENSMUSP00000046924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037478]

AlphaFold

Q8R090

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037478
AA Change: I259T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330
AA Change: I259T

Domain	Start	End	E-Value	Type
Pfam:MFS_1	24	430	3.7e-34	PFAM
Pfam:MFS_1	302	508	9e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147674

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162457

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased neuron apoptosis, decreased neuron proliferation and impaired spatial object recognition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,094,272 (GRCm39)	M53L	possibly damaging	Het
Abca5	T	C	11: 110,184,674 (GRCm39)	D944G	probably benign	Het
Ankdd1b	T	C	13: 96,556,211 (GRCm39)	Y433C	probably damaging	Het
Aox3	A	G	1: 58,209,805 (GRCm39)		probably null	Het
Ap1g1	G	A	8: 110,559,853 (GRCm39)	G260E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp13a4	T	A	16: 29,275,429 (GRCm39)	T352S	probably damaging	Het
Ccdc33	T	A	9: 58,024,729 (GRCm39)	N166Y	possibly damaging	Het
Ces2h	T	A	8: 105,743,243 (GRCm39)	D159E	probably damaging	Het
Chd1	T	A	17: 17,607,533 (GRCm39)	D360E	probably benign	Het
Col16a1	G	T	4: 129,978,062 (GRCm39)	G781V	probably damaging	Het
Col6a5	T	A	9: 105,808,045 (GRCm39)	E1001V	unknown	Het
Cracdl	A	T	1: 37,664,791 (GRCm39)	I369N	probably benign	Het
Cyp3a59	T	G	5: 146,035,060 (GRCm39)	M246R	probably benign	Het
Dcn	T	C	10: 97,349,517 (GRCm39)	V263A	probably benign	Het
Dnttip2	A	G	3: 122,069,798 (GRCm39)	N338D	probably benign	Het
Entpd1	G	T	19: 40,600,968 (GRCm39)		probably null	Het
Epb41l1	A	G	2: 156,363,894 (GRCm39)	D801G	probably benign	Het
Fam186a	T	A	15: 99,864,762 (GRCm39)	K23*	probably null	Het
Gbe1	T	C	16: 70,284,929 (GRCm39)	M417T	probably benign	Het
Gmnc	T	A	16: 26,784,497 (GRCm39)	S3C	possibly damaging	Het
Gpr156	T	C	16: 37,768,583 (GRCm39)	S35P	probably damaging	Het
Grid1	T	C	14: 35,167,988 (GRCm39)	M504T	possibly damaging	Het
Gsdma3	T	C	11: 98,526,071 (GRCm39)	V265A	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,399 (GRCm39)	I308N	probably damaging	Het
Inpp4b	A	G	8: 82,494,732 (GRCm39)	D49G	probably benign	Het
Ipmk	C	A	10: 71,217,133 (GRCm39)	Q227K	probably damaging	Het
Kalrn	T	A	16: 34,181,320 (GRCm39)	D88V	probably damaging	Het
Kansl1l	C	T	1: 66,841,047 (GRCm39)	M84I	probably damaging	Het
Kcnab2	T	G	4: 152,477,509 (GRCm39)	K363Q	probably damaging	Het
Kdm7a	C	A	6: 39,124,633 (GRCm39)		probably null	Het
Kiss1r	T	C	10: 79,757,612 (GRCm39)	L322P	probably damaging	Het
Lce1e	A	T	3: 92,615,178 (GRCm39)	C56*	probably null	Het
Lrpprc	T	C	17: 85,047,509 (GRCm39)	K908E	probably damaging	Het
Mak	C	A	13: 41,210,110 (GRCm39)	W42L	probably damaging	Het
Map3k21	A	G	8: 126,671,519 (GRCm39)	T936A	probably benign	Het
Marchf7	C	T	2: 60,064,888 (GRCm39)	S388F	probably damaging	Het
Matcap1	A	T	8: 106,012,182 (GRCm39)	S88R	probably damaging	Het
Mgat2	A	T	12: 69,232,301 (GRCm39)	I292F	probably benign	Het
Myh3	C	A	11: 66,987,717 (GRCm39)	R1397S	probably damaging	Het
Myo5a	A	G	9: 75,089,275 (GRCm39)	D1135G	possibly damaging	Het
N4bp2	A	G	5: 65,983,956 (GRCm39)	E1667G	probably damaging	Het
Nbr1	A	G	11: 101,450,369 (GRCm39)	T43A	probably damaging	Het
Nip7	A	G	8: 107,784,767 (GRCm39)	N124S	probably benign	Het
Or3a1	G	A	11: 74,225,808 (GRCm39)	S83F	possibly damaging	Het
Or51l14	T	C	7: 103,101,356 (GRCm39)	S271P	probably benign	Het
Or6c75	T	A	10: 129,336,775 (GRCm39)	S7R	probably benign	Het
Or7g25	C	T	9: 19,160,384 (GRCm39)	V104I	probably benign	Het
Or8b55	T	C	9: 38,727,194 (GRCm39)	Y132H	probably damaging	Het
Otoa	T	C	7: 120,733,326 (GRCm39)	L731P	probably damaging	Het
Pcnx2	G	A	8: 126,500,717 (GRCm39)	P1458S	probably damaging	Het
Pfpl	A	G	19: 12,407,224 (GRCm39)	T492A	probably damaging	Het
Pgm1	A	G	4: 99,824,305 (GRCm39)	D326G	probably damaging	Het
Plekhh1	T	A	12: 79,119,535 (GRCm39)	Y953N	probably damaging	Het
Pnkd	G	A	1: 74,387,922 (GRCm39)	A195T	probably damaging	Het
Ppib	C	T	9: 65,968,764 (GRCm39)	Q51*	probably null	Het
Ppip5k1	G	T	2: 121,181,067 (GRCm39)	T13K	probably benign	Het
Psmg2	A	T	18: 67,781,246 (GRCm39)	S113C	probably benign	Het
Rapgef2	A	G	3: 78,974,038 (GRCm39)	M1584T	possibly damaging	Het
Rbm12b1	A	C	4: 12,145,424 (GRCm39)	R465S	probably damaging	Het
Reln	A	G	5: 22,215,287 (GRCm39)	Y1055H	probably damaging	Het
Ros1	A	T	10: 51,996,922 (GRCm39)	I1250K	probably damaging	Het
Samd9l	C	A	6: 3,373,401 (GRCm39)	V1287F	probably damaging	Het
Sgce	A	T	6: 4,689,765 (GRCm39)	I356N	probably damaging	Het
Sh3tc1	C	T	5: 35,863,248 (GRCm39)	E980K	possibly damaging	Het
Sil1	T	C	18: 35,551,151 (GRCm39)	E68G	possibly damaging	Het
Slc6a20b	A	C	9: 123,438,062 (GRCm39)		probably null	Het
Smg7	G	T	1: 152,724,597 (GRCm39)	T536K	probably benign	Het
Smyd4	A	G	11: 75,273,192 (GRCm39)	Y84C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sorbs2	A	T	8: 46,216,056 (GRCm39)	*50C	probably null	Het
Speg	A	T	1: 75,377,806 (GRCm39)	M855L	possibly damaging	Het
Srrt	G	T	5: 137,301,212 (GRCm39)	H71Q	probably damaging	Het
St6galnac5	A	G	3: 152,552,130 (GRCm39)	S146P	probably damaging	Het
Syne1	T	A	10: 5,299,369 (GRCm39)	Q962L	probably damaging	Het
Tiam2	A	G	17: 3,566,278 (GRCm39)	H1441R	probably damaging	Het
Tmem45a	C	T	16: 56,642,765 (GRCm39)	M135I	probably benign	Het
Tpr	A	T	1: 150,305,275 (GRCm39)	E1521D	probably benign	Het
Uba3	C	T	6: 97,173,865 (GRCm39)	G107R	probably damaging	Het
Unc45b	G	T	11: 82,820,325 (GRCm39)	V590F	probably benign	Het
Vmn1r14	A	T	6: 57,211,297 (GRCm39)	T292S	probably benign	Het
Vmn2r102	T	A	17: 19,914,755 (GRCm39)	N773K	probably damaging	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Wfs1	G	C	5: 37,124,359 (GRCm39)	A844G	probably damaging	Het
Zfp398	A	G	6: 47,836,412 (GRCm39)	T71A	possibly damaging	Het
Zfp507	C	A	7: 35,475,403 (GRCm39)	A145S	probably damaging	Het
Zfp971	A	T	2: 177,675,722 (GRCm39)	E440D	probably damaging	Het

Other mutations in Slc18a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Slc18a1	APN	8	69,503,998 (GRCm39)	missense	probably damaging	1.00
IGL00661:Slc18a1	APN	8	69,526,383 (GRCm39)	missense	probably benign	0.00
IGL01568:Slc18a1	APN	8	69,518,278 (GRCm39)	missense	probably damaging	1.00
IGL02199:Slc18a1	APN	8	69,496,632 (GRCm39)	missense	probably benign	0.03
IGL03011:Slc18a1	APN	8	69,491,515 (GRCm39)	missense	probably benign
IGL03260:Slc18a1	APN	8	69,527,766 (GRCm39)	missense	probably benign	0.24
R0349:Slc18a1	UTSW	8	69,524,753 (GRCm39)	missense	probably damaging	1.00
R1019:Slc18a1	UTSW	8	69,527,685 (GRCm39)	critical splice donor site	probably null
R1928:Slc18a1	UTSW	8	69,526,464 (GRCm39)	missense	probably benign	0.00
R2058:Slc18a1	UTSW	8	69,496,613 (GRCm39)	missense	probably damaging	1.00
R4652:Slc18a1	UTSW	8	69,496,583 (GRCm39)	missense	possibly damaging	0.71
R4724:Slc18a1	UTSW	8	69,526,301 (GRCm39)	nonsense	probably null
R4818:Slc18a1	UTSW	8	69,492,951 (GRCm39)	missense	probably damaging	0.99
R6799:Slc18a1	UTSW	8	69,493,633 (GRCm39)	missense	probably benign	0.05
R6989:Slc18a1	UTSW	8	69,491,514 (GRCm39)	missense	probably benign	0.01
R7557:Slc18a1	UTSW	8	69,518,213 (GRCm39)	missense	probably damaging	1.00
R7736:Slc18a1	UTSW	8	69,518,206 (GRCm39)	critical splice donor site	probably null
R7956:Slc18a1	UTSW	8	69,491,466 (GRCm39)	missense	probably benign	0.00
R8024:Slc18a1	UTSW	8	69,527,799 (GRCm39)	missense	probably benign	0.00
R8146:Slc18a1	UTSW	8	69,495,401 (GRCm39)	missense	possibly damaging	0.83
R8339:Slc18a1	UTSW	8	69,518,273 (GRCm39)	missense	possibly damaging	0.91
R9055:Slc18a1	UTSW	8	69,520,823 (GRCm39)	missense	possibly damaging	0.95
R9129:Slc18a1	UTSW	8	69,491,533 (GRCm39)	missense	probably benign	0.00
R9190:Slc18a1	UTSW	8	69,519,790 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTACCCTAAGTGTAAGCCTGCC -3'
(R):5'- TCAGTAGAGCTTAGTCCCCAAAGCC -3'

Sequencing Primer
(F):5'- CCTGCCTGGAATCTAAATCTGGAG -3'
(R):5'- ttagtccccaaagccttcag -3'

Posted On

2014-05-23