Mutagenetix > Incidental Mutation

Incidental Mutation 'R7966:Slc6a16'

650369

Institutional Source

Beutler Lab

Gene Symbol

Slc6a16

Ensembl Gene

ENSMUSG00000094152

Gene Name

solute carrier family 6, member 16

Synonyms

LOC381884

MMRRC Submission

046009-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7966 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44890509-44922791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44917477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 445 (I445N)

Ref Sequence

ENSEMBL: ENSMUSP00000149306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179310] [ENSMUST00000213347]

AlphaFold

A0A1L1SR47

Predicted Effect

probably damaging
Transcript: ENSMUST00000179310
AA Change: I434N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136199
Gene: ENSMUSG00000094152
AA Change: I434N

Domain	Start	End	E-Value	Type
Pfam:SNF	114	668	2.4e-100	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000179310
AA Change: I434N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213347
AA Change: I445N

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,219,903 (GRCm39)	I817L	probably benign	Het
Adcy8	A	T	15: 64,573,939 (GRCm39)	W1055R	probably damaging	Het
Anks4b	A	G	7: 119,781,923 (GRCm39)	E318G	probably benign	Het
Arid3a	A	G	10: 79,767,889 (GRCm39)	T229A	probably benign	Het
Cckar	T	C	5: 53,858,580 (GRCm39)	K247E	possibly damaging	Het
Cfap52	A	T	11: 67,844,571 (GRCm39)		probably null	Het
Ckap4	A	G	10: 84,363,449 (GRCm39)	V538A	probably damaging	Het
Cped1	T	C	6: 22,059,953 (GRCm39)		probably null	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cyp4v3	G	T	8: 45,785,954 (GRCm39)	A21E	probably benign	Het
Cytip	T	C	2: 58,037,944 (GRCm39)	E140G	probably damaging	Het
D130043K22Rik	A	C	13: 25,077,406 (GRCm39)	Q1013P	probably damaging	Het
Dpp6	A	G	5: 27,928,370 (GRCm39)	M763V	probably benign	Het
Eps15	T	A	4: 109,178,340 (GRCm39)	Y193N	probably damaging	Het
Ghrhr	T	C	6: 55,356,083 (GRCm39)	W59R	probably damaging	Het
Hdac4	A	G	1: 91,861,402 (GRCm39)	V1056A	possibly damaging	Het
Ipcef1	T	C	10: 6,850,668 (GRCm39)	T312A	probably damaging	Het
Itpr3	T	C	17: 27,331,002 (GRCm39)		probably null	Het
Kif6	A	G	17: 49,993,453 (GRCm39)	I182V	probably damaging	Het
Lcn3	A	G	2: 25,656,389 (GRCm39)	K90E	probably damaging	Het
Lig3	T	C	11: 82,681,342 (GRCm39)	S446P	probably damaging	Het
Ncln	G	A	10: 81,326,103 (GRCm39)	Q283*	probably null	Het
Nlrp4c	A	G	7: 6,069,322 (GRCm39)	T408A	probably damaging	Het
Oas1h	T	C	5: 121,009,962 (GRCm39)	F346L	probably damaging	Het
Olig2	AGCCGCCGCCGCCGCCGCAGCCGCCGCCGCCGC	AGCCGCCGCCGCCGCAGCCGCCGCCGCCGC	16: 91,023,962 (GRCm39)		probably benign	Het
Or2ad1	A	T	13: 21,326,356 (GRCm39)	Y290*	probably null	Het
Or52b4	T	C	7: 102,184,623 (GRCm39)	I223T	probably damaging	Het
Or52s1b	A	T	7: 102,822,062 (GRCm39)	F261I	probably damaging	Het
Or8b55	A	G	9: 38,727,536 (GRCm39)	I246V	probably benign	Het
Pdcd1	A	T	1: 93,969,186 (GRCm39)	V44E	probably damaging	Het
Prdm13	A	T	4: 21,679,932 (GRCm39)	I186N	unknown	Het
Prpf4b	A	G	13: 35,085,428 (GRCm39)	D958G	probably damaging	Het
Prss59	A	T	6: 40,903,022 (GRCm39)	Y117N	probably benign	Het
Prune2	A	G	19: 17,156,223 (GRCm39)	N2792S	probably damaging	Het
Robo1	T	A	16: 72,780,760 (GRCm39)	I830N	possibly damaging	Het
Scaper	A	G	9: 55,669,611 (GRCm39)	V355A	probably damaging	Het
Scn3b	C	T	9: 40,193,846 (GRCm39)	A191V	probably benign	Het
Slc13a3	G	C	2: 165,272,155 (GRCm39)	S296C	probably benign	Het
Snrnp35	A	G	5: 124,628,565 (GRCm39)	Y126C	possibly damaging	Het
Spock2	A	G	10: 59,957,554 (GRCm39)	H98R	possibly damaging	Het
Sptssb	A	T	3: 69,728,286 (GRCm39)	Y50*	probably null	Het
Syne1	A	G	10: 5,066,965 (GRCm39)		probably null	Het
Tcf21	T	C	10: 22,695,706 (GRCm39)	T33A	probably benign	Het
Tecta	A	G	9: 42,306,258 (GRCm39)	F57L	probably damaging	Het
Tgs1	C	A	4: 3,586,215 (GRCm39)	P364H	probably benign	Het
Tmem242	A	G	17: 5,461,711 (GRCm39)	I119T	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vmn2r3	T	A	3: 64,186,235 (GRCm39)	N150I	probably damaging	Het
Vmn2r69	A	G	7: 85,060,762 (GRCm39)	I274T	possibly damaging	Het
Vwf	T	A	6: 125,616,304 (GRCm39)	L1206*	probably null	Het
Zfp157	T	A	5: 138,445,833 (GRCm39)	W63R	probably benign	Het
Zfp455	T	C	13: 67,347,302 (GRCm39)	Y10H	probably benign	Het
Zfp654	T	C	16: 64,605,239 (GRCm39)	T447A	probably damaging	Het
Zhx2	T	C	15: 57,685,063 (GRCm39)	I144T	probably damaging	Het

Other mutations in Slc6a16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0345:Slc6a16	UTSW	7	44,908,672 (GRCm39)	missense	possibly damaging	0.50
R1721:Slc6a16	UTSW	7	44,910,600 (GRCm39)	missense	possibly damaging	0.86
R3788:Slc6a16	UTSW	7	44,909,386 (GRCm39)	missense	probably benign	0.01
R3854:Slc6a16	UTSW	7	44,917,596 (GRCm39)	missense	probably damaging	1.00
R5024:Slc6a16	UTSW	7	44,909,390 (GRCm39)	missense	probably benign	0.02
R5450:Slc6a16	UTSW	7	44,910,672 (GRCm39)	missense	probably benign	0.33
R5624:Slc6a16	UTSW	7	44,910,532 (GRCm39)	missense	probably benign	0.00
R5756:Slc6a16	UTSW	7	44,910,274 (GRCm39)	missense	possibly damaging	0.95
R6224:Slc6a16	UTSW	7	44,910,572 (GRCm39)	missense	probably damaging	1.00
R6384:Slc6a16	UTSW	7	44,907,017 (GRCm39)	splice site	probably null
R6736:Slc6a16	UTSW	7	44,908,452 (GRCm39)	missense	possibly damaging	0.57
R7035:Slc6a16	UTSW	7	44,910,251 (GRCm39)	missense	probably damaging	1.00
R7525:Slc6a16	UTSW	7	44,908,537 (GRCm39)	missense	probably benign	0.01
R7527:Slc6a16	UTSW	7	44,922,063 (GRCm39)	missense	probably damaging	1.00
R7681:Slc6a16	UTSW	7	44,910,338 (GRCm39)	missense	probably damaging	1.00
R7884:Slc6a16	UTSW	7	44,908,771 (GRCm39)	missense	probably damaging	0.99
Z1177:Slc6a16	UTSW	7	44,910,332 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CATCGGCACACATTCTTGACG -3'
(R):5'- AGCAAGCTCTCCAGTATCGC -3'

Sequencing Primer
(F):5'- GCACACATTCTTGACGGTACTGAG -3'
(R):5'- AGTATCGCCTTTGCCCTGGG -3'

Posted On

2020-09-15