Mutagenetix > Incidental Mutation

Incidental Mutation 'R9031:Slc6a18'

687084

Institutional Source

Beutler Lab

Gene Symbol

Slc6a18

Ensembl Gene

ENSMUSG00000021612

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 18

Synonyms

XT2, D630001K16Rik, Xtrp2

MMRRC Submission

068860-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73809871-73826142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73819822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 249 (N249K)

Ref Sequence

ENSEMBL: ENSMUSP00000152525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022105] [ENSMUST00000109679] [ENSMUST00000109680] [ENSMUST00000220650] [ENSMUST00000221026] [ENSMUST00000221987] [ENSMUST00000222029] [ENSMUST00000223026] [ENSMUST00000223074]

AlphaFold

O88576

Predicted Effect

probably benign
Transcript: ENSMUST00000022105
AA Change: N249K

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

SMART Domains

Protein: ENSMUSP00000022105
Gene: ENSMUSG00000021612
AA Change: N249K

Domain	Start	End	E-Value	Type
Pfam:SNF	17	593	2.1e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109679
AA Change: N249K

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105301
Gene: ENSMUSG00000021612
AA Change: N249K

Domain	Start	End	E-Value	Type
Pfam:SNF	17	511	6.8e-164	PFAM
low complexity region	513	526	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109680
AA Change: N249K

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105302
Gene: ENSMUSG00000021612
AA Change: N249K

Domain	Start	End	E-Value	Type
Pfam:SNF	17	325	2.1e-126	PFAM
Pfam:SNF	392	555	9.1e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220650
AA Change: N249K

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000220703

Predicted Effect

probably benign
Transcript: ENSMUST00000221026

Predicted Effect

probably benign
Transcript: ENSMUST00000221987

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222029
AA Change: N249K

PolyPhen 2 Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223026
AA Change: N249K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223074
AA Change: N249K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Homozygous null mice are overtly normal but have increased blood pressure associated with impaired renal accumulation of glycine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,810,466 (GRCm39)	R921H	probably benign	Het
Adcy5	A	G	16: 35,119,859 (GRCm39)	I1123V	probably damaging	Het
Agr2	G	C	12: 36,045,565 (GRCm39)	G17A	probably benign	Het
Akap6	A	T	12: 53,188,831 (GRCm39)	T2082S	probably benign	Het
Asxl3	G	T	18: 22,657,401 (GRCm39)	V1804F	probably damaging	Het
Atat1	A	G	17: 36,220,381 (GRCm39)	V37A	probably benign	Het
Atp1a3	A	T	7: 24,689,212 (GRCm39)		probably null	Het
Bpifb1	A	G	2: 154,051,848 (GRCm39)	T218A	probably benign	Het
C030006K11Rik	T	A	15: 76,607,961 (GRCm39)	Q19L	probably benign	Het
Ccdc138	T	C	10: 58,380,893 (GRCm39)	F508S	probably damaging	Het
Ccdc81	T	A	7: 89,542,358 (GRCm39)	M173L	probably benign	Het
Cdhr1	T	C	14: 36,815,976 (GRCm39)	I141V	probably benign	Het
Chia1	T	C	3: 106,035,777 (GRCm39)	F206L	probably benign	Het
Clca3a2	C	T	3: 144,511,475 (GRCm39)	G640E	probably damaging	Het
Clcn7	T	C	17: 25,376,497 (GRCm39)	V609A	probably damaging	Het
Cmklr2	T	C	1: 63,223,145 (GRCm39)	E30G	probably benign	Het
Col22a1	C	A	15: 71,753,523 (GRCm39)	G126*	probably null	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Ctcfl	A	T	2: 172,959,044 (GRCm39)	D227E	probably benign	Het
Cwf19l2	A	G	9: 3,417,942 (GRCm39)	D134G	probably benign	Het
Cyp2c65	C	A	19: 39,061,663 (GRCm39)	C216*	probably null	Het
Cyp2d12	T	A	15: 82,443,423 (GRCm39)	C462S	probably null	Het
Cyp4a12a	A	C	4: 115,189,199 (GRCm39)	*509Y	probably null	Het
Cyp4a12b	A	G	4: 115,290,865 (GRCm39)	M298V	probably benign	Het
Dennd4b	T	C	3: 90,178,188 (GRCm39)	V471A	probably benign	Het
Dlc1	A	G	8: 37,405,055 (GRCm39)	S245P	possibly damaging	Het
Dnah1	C	T	14: 31,001,128 (GRCm39)	G2406S	probably benign	Het
Dnah8	A	G	17: 30,956,401 (GRCm39)	K2127R	probably damaging	Het
Dusp13b	G	A	14: 21,790,233 (GRCm39)	R38C	probably benign	Het
Ebf2	T	A	14: 67,472,594 (GRCm39)	I4N	probably benign	Het
Eef1ece2	C	T	16: 20,459,375 (GRCm39)	P570L	probably damaging	Het
Fcgbp	A	G	7: 27,790,908 (GRCm39)	N723S	possibly damaging	Het
Galnt15	T	A	14: 31,770,027 (GRCm39)	V368E	probably damaging	Het
Garem2	A	G	5: 30,313,262 (GRCm39)	E42G	possibly damaging	Het
Gcc1	C	T	6: 28,418,182 (GRCm39)	S717N	probably damaging	Het
Gfm2	T	C	13: 97,309,201 (GRCm39)		probably null	Het
Helb	T	C	10: 119,920,790 (GRCm39)	D1051G	possibly damaging	Het
Helz2	T	A	2: 180,874,261 (GRCm39)	I2078F	possibly damaging	Het
Hsph1	A	T	5: 149,553,270 (GRCm39)	V297D	probably damaging	Het
Ifnar1	A	G	16: 91,302,079 (GRCm39)	Y518C	probably benign	Het
Kcnip2	T	A	19: 45,783,210 (GRCm39)	D153V	probably damaging	Het
Kif15	A	T	9: 122,846,492 (GRCm39)		probably benign	Het
Kif21b	T	C	1: 136,073,042 (GRCm39)	F147L	probably damaging	Het
Klhl29	T	C	12: 5,140,537 (GRCm39)	R702G	probably damaging	Het
Lemd3	C	T	10: 120,767,878 (GRCm39)	E667K	possibly damaging	Het
Loxl3	T	C	6: 83,012,503 (GRCm39)	L14P	probably damaging	Het
Lrrd1	A	T	5: 3,900,963 (GRCm39)	K423*	probably null	Het
Mia2	A	G	12: 59,155,586 (GRCm39)	D433G	probably damaging	Het
Mpp2	G	T	11: 101,954,099 (GRCm39)	A216E	probably benign	Het
Mro	T	C	18: 74,009,911 (GRCm39)		probably null	Het
Mybpc1	T	G	10: 88,358,906 (GRCm39)	Y1081S	probably damaging	Het
Myh8	T	G	11: 67,190,141 (GRCm39)	S1260R	possibly damaging	Het
Myo3b	T	C	2: 70,082,094 (GRCm39)	V618A	probably damaging	Het
Naip2	T	G	13: 100,314,776 (GRCm39)	D334A	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nlrp4c	T	C	7: 6,107,608 (GRCm39)	*983Q	probably null	Het
Nlrp9a	T	G	7: 26,257,698 (GRCm39)	F439V	probably damaging	Het
Nploc4	A	T	11: 120,319,368 (GRCm39)	L64H	probably damaging	Het
Ola1	T	C	2: 72,924,060 (GRCm39)	E246G	probably benign	Het
Otof	G	A	5: 30,537,532 (GRCm39)	S1259F	probably benign	Het
Pde4dip	T	C	3: 97,599,675 (GRCm39)	T2438A	probably damaging	Het
Pex1	A	G	5: 3,686,844 (GRCm39)	T1242A	probably damaging	Het
Pink1	A	T	4: 138,043,056 (GRCm39)		probably benign	Het
Prkcq	A	G	2: 11,251,819 (GRCm39)	T219A	probably damaging	Het
Ptcd3	A	T	6: 71,880,458 (GRCm39)	Y88*	probably null	Het
Ptpru	A	G	4: 131,515,691 (GRCm39)	Y888H	probably damaging	Het
Rapgef6	A	G	11: 54,578,667 (GRCm39)	N1063S	probably benign	Het
Slc1a4	G	A	11: 20,282,532 (GRCm39)		probably benign	Het
Slc4a4	T	C	5: 89,205,568 (GRCm39)		probably benign	Het
Slco2b1	T	G	7: 99,338,214 (GRCm39)	I104L	probably damaging	Het
Syne3	A	T	12: 104,905,871 (GRCm39)	S897R	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tnni3k	A	G	3: 154,744,146 (GRCm39)	S69P	probably damaging	Het
Tnpo2	A	G	8: 85,780,163 (GRCm39)	K700E	probably benign	Het
Top3a	T	C	11: 60,636,695 (GRCm39)	K657E	probably damaging	Het
Trgv4	C	T	13: 19,369,169 (GRCm39)	Q7*	probably null	Het
Trim6	T	C	7: 103,875,159 (GRCm39)	L132P	probably damaging	Het
Tshz1	T	C	18: 84,032,987 (GRCm39)	T474A	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vmn1r179	A	T	7: 23,628,234 (GRCm39)	I142L	probably benign	Het
Zbtb2	A	T	10: 4,319,183 (GRCm39)	F281Y	probably damaging	Het
Zfp318	T	C	17: 46,723,433 (GRCm39)	V1812A	probably benign	Het

Other mutations in Slc6a18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Slc6a18	APN	13	73,819,838 (GRCm39)	missense	possibly damaging	0.82
IGL01370:Slc6a18	APN	13	73,815,150 (GRCm39)	missense	probably damaging	1.00
IGL01959:Slc6a18	APN	13	73,825,984 (GRCm39)	missense	probably damaging	1.00
IGL02096:Slc6a18	APN	13	73,820,870 (GRCm39)	missense	probably benign	0.05
IGL02147:Slc6a18	APN	13	73,816,281 (GRCm39)	missense	probably damaging	0.97
IGL02167:Slc6a18	APN	13	73,814,591 (GRCm39)	critical splice acceptor site	probably null
IGL02465:Slc6a18	APN	13	73,825,904 (GRCm39)	missense	probably benign	0.11
IGL02548:Slc6a18	APN	13	73,818,114 (GRCm39)	missense	probably damaging	1.00
IGL02720:Slc6a18	APN	13	73,818,087 (GRCm39)	missense	probably benign	0.16
IGL03341:Slc6a18	APN	13	73,826,042 (GRCm39)	missense	probably benign	0.07
R0011:Slc6a18	UTSW	13	73,813,738 (GRCm39)	missense	possibly damaging	0.59
R0219:Slc6a18	UTSW	13	73,822,751 (GRCm39)	splice site	probably null
R0884:Slc6a18	UTSW	13	73,815,156 (GRCm39)	missense	probably damaging	1.00
R1019:Slc6a18	UTSW	13	73,825,998 (GRCm39)	missense	probably damaging	1.00
R1610:Slc6a18	UTSW	13	73,816,344 (GRCm39)	missense	probably benign	0.10
R1901:Slc6a18	UTSW	13	73,818,162 (GRCm39)	missense	probably benign	0.39
R1969:Slc6a18	UTSW	13	73,812,308 (GRCm39)	missense	possibly damaging	0.66
R2014:Slc6a18	UTSW	13	73,823,844 (GRCm39)	missense	probably benign	0.02
R2445:Slc6a18	UTSW	13	73,814,871 (GRCm39)	nonsense	probably null
R2504:Slc6a18	UTSW	13	73,823,925 (GRCm39)	missense	probably benign	0.01
R3125:Slc6a18	UTSW	13	73,825,921 (GRCm39)	missense	probably damaging	1.00
R4084:Slc6a18	UTSW	13	73,815,148 (GRCm39)	missense	probably benign	0.39
R4571:Slc6a18	UTSW	13	73,814,489 (GRCm39)	missense	possibly damaging	0.59
R4735:Slc6a18	UTSW	13	73,814,554 (GRCm39)	missense	probably benign	0.42
R5032:Slc6a18	UTSW	13	73,814,442 (GRCm39)	missense	probably damaging	1.00
R5859:Slc6a18	UTSW	13	73,816,278 (GRCm39)	missense	probably benign	0.01
R6258:Slc6a18	UTSW	13	73,818,164 (GRCm39)	nonsense	probably null
R6350:Slc6a18	UTSW	13	73,826,044 (GRCm39)	missense	possibly damaging	0.80
R6370:Slc6a18	UTSW	13	73,816,278 (GRCm39)	missense	probably benign	0.21
R6640:Slc6a18	UTSW	13	73,812,401 (GRCm39)	missense	possibly damaging	0.95
R6747:Slc6a18	UTSW	13	73,826,110 (GRCm39)	start gained	probably benign
R7267:Slc6a18	UTSW	13	73,819,755 (GRCm39)	missense	probably damaging	1.00
R7702:Slc6a18	UTSW	13	73,820,915 (GRCm39)	missense	probably damaging	1.00
R8039:Slc6a18	UTSW	13	73,813,745 (GRCm39)	missense	probably benign	0.39
R8423:Slc6a18	UTSW	13	73,813,693 (GRCm39)	missense	probably benign	0.00
R8669:Slc6a18	UTSW	13	73,812,430 (GRCm39)	missense	probably benign	0.01
R8825:Slc6a18	UTSW	13	73,813,751 (GRCm39)	missense	probably null	0.01
R8993:Slc6a18	UTSW	13	73,816,390 (GRCm39)	missense	probably benign	0.01
R9023:Slc6a18	UTSW	13	73,823,889 (GRCm39)	missense	probably damaging	1.00
R9589:Slc6a18	UTSW	13	73,816,323 (GRCm39)	missense	possibly damaging	0.66
Z1177:Slc6a18	UTSW	13	73,825,979 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTCTCGCTTGGAGTTCACAGG -3'
(R):5'- AGAACTGGGTCTGGTCCTAC -3'

Sequencing Primer
(F):5'- TCCAACAGTGTGGTTCCAAG -3'
(R):5'- TCTGGTCCTACCCCCAGG -3'

Posted On

2021-11-19