Mutagenetix > Incidental Mutation

Incidental Mutation 'R8977:Slc6a19'

683528

Institutional Source

Beutler Lab

Gene Symbol

Slc6a19

Ensembl Gene

ENSMUSG00000021565

Gene Name

solute carrier family 6 (neurotransmitter transporter), member 19

Synonyms

B<0>AT1, 4632401C08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R8977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73679745-73704865 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73682150 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 516 (K516E)

Ref Sequence

ENSEMBL: ENSMUSP00000022048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022048] [ENSMUST00000022105] [ENSMUST00000109679] [ENSMUST00000109680] [ENSMUST00000220650] [ENSMUST00000221026] [ENSMUST00000221987] [ENSMUST00000222029] [ENSMUST00000223026] [ENSMUST00000223074]

AlphaFold

Q9D687

Predicted Effect

probably benign
Transcript: ENSMUST00000022048
AA Change: K516E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022048
Gene: ENSMUSG00000021565
AA Change: K516E

Domain	Start	End	E-Value	Type
Pfam:SNF	32	608	2.3e-180	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022105

SMART Domains

Protein: ENSMUSP00000022105
Gene: ENSMUSG00000021612

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109679

SMART Domains

Protein: ENSMUSP00000105301
Gene: ENSMUSG00000021612

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109680

SMART Domains

Protein: ENSMUSP00000105302
Gene: ENSMUSG00000021612

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221026

Predicted Effect

probably benign
Transcript: ENSMUST00000221987

Predicted Effect

probably benign
Transcript: ENSMUST00000222029

Predicted Effect

probably benign
Transcript: ENSMUST00000223026

Predicted Effect

probably benign
Transcript: ENSMUST00000223074

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and impaired amino acid absorption and excretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	A	6: 149,328,408	I984N	probably damaging	Het
4930438A08Rik	A	G	11: 58,293,884	E476G	unknown	Het
Aars	G	A	8: 111,040,217	R77Q	probably damaging	Het
Abcc10	C	A	17: 46,313,667	V795L	probably benign	Het
Adam30	A	G	3: 98,162,062	K276E	probably damaging	Het
Adam6b	A	T	12: 113,490,376	N271I	probably benign	Het
Adgrl2	T	C	3: 148,954,587	I17V	probably null	Het
Anapc1	C	A	2: 128,641,402	G1258C	probably damaging	Het
Ank2	G	T	3: 126,944,926	H2436Q	unknown	Het
Ankrd13a	A	T	5: 114,795,745	K267*	probably null	Het
Apob	T	C	12: 8,015,990	Y4320H	probably damaging	Het
Atp2b2	T	C	6: 113,773,364	D678G	probably damaging	Het
Bhlhe41	C	A	6: 145,863,370	V239F	possibly damaging	Het
Cbfa2t2	T	G	2: 154,500,490	L42R	probably benign	Het
Ccdc173	T	C	2: 69,787,299	H46R	possibly damaging	Het
Ccer2	G	A	7: 28,756,688	V52M	probably damaging	Het
Ccnj	T	C	19: 40,844,939	F187S	probably damaging	Het
Cd109	G	A	9: 78,707,528	V1286I	probably benign	Het
Cfap46	G	T	7: 139,679,933	T148N	probably benign	Het
Chmp7	A	G	14: 69,721,235	V210A	probably benign	Het
Cuzd1	A	G	7: 131,322,025	F8S	probably benign	Het
Dnmbp	A	T	19: 43,852,312	D549E	probably damaging	Het
Dpp4	A	G	2: 62,374,403	L240P	probably benign	Het
Dst	A	T	1: 34,247,783	R3398S	probably damaging	Het
Eml6	A	G	11: 29,784,182	I1186T	possibly damaging	Het
Extl1	T	C	4: 134,359,124	E540G	possibly damaging	Het
Gdpd5	A	G	7: 99,453,850	I339V	probably benign	Het
Ggcx	T	C	6: 72,429,282		probably null	Het
Gm9195	A	G	14: 72,453,898	F1637L	unknown	Het
Igkv5-48	G	C	6: 69,726,632	N96K	possibly damaging	Het
Itga11	T	C	9: 62,755,640	I546T	probably damaging	Het
Map3k5	T	A	10: 20,079,254	F624L	possibly damaging	Het
Map7	T	A	10: 20,269,590		probably null	Het
Mdga2	A	T	12: 66,797,635	D196E	possibly damaging	Het
Mettl2	T	C	11: 105,128,965	C143R	probably benign	Het
Mut	G	T	17: 40,938,590	R152L	probably benign	Het
Ncam1	G	T	9: 49,507,525	T825K	probably damaging	Het
Nucb2	C	A	7: 116,528,828	N257K	probably benign	Het
Olfr1085	C	T	2: 86,658,128	C110Y	probably benign	Het
Olfr1535	T	A	13: 21,555,846	M59L	possibly damaging	Het
Olfr378	A	G	11: 73,425,825	S53P	probably benign	Het
Olfr406	A	T	11: 74,269,478	I30F	probably benign	Het
Olfr640	A	T	7: 104,021,555	Y254*	probably null	Het
Olfr664	A	T	7: 104,734,041	F108I	probably damaging	Het
Pamr1	T	A	2: 102,611,618	V184D	probably damaging	Het
Paqr9	A	T	9: 95,560,835	I293F	possibly damaging	Het
Pi15	G	T	1: 17,619,902		probably null	Het
Pkm	T	A	9: 59,671,640	I301N	probably damaging	Het
Pramel1	T	A	4: 143,397,391	I212N	probably benign	Het
Prdm6	A	T	18: 53,568,301	I549F	probably damaging	Het
Prpf8	A	G	11: 75,496,044	E1105G	probably benign	Het
Rad51b	T	A	12: 79,657,888	V274E	probably damaging	Het
Rd3l	T	A	12: 111,980,159	Y61F	probably damaging	Het
Rgs11	T	C	17: 26,208,259	V388A	probably damaging	Het
Rictor	A	G	15: 6,783,085	I901V	probably benign	Het
Riox2	A	G	16: 59,491,832	D444G	probably benign	Het
Scn2a	T	A	2: 65,763,670	V1621E	probably damaging	Het
Sec11c	A	G	18: 65,812,747	I94V	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Slc34a1	T	C	13: 55,409,002	I337T	probably benign	Het
Slco1b2	A	T	6: 141,683,254	M596L	probably benign	Het
Smarce1	A	G	11: 99,219,685	I100T	possibly damaging	Het
Stk32c	A	T	7: 139,125,245	M119K	possibly damaging	Het
Tekt2	T	C	4: 126,323,473		probably null	Het
Tenm4	A	T	7: 96,811,970	N908Y	probably damaging	Het
Tex38	A	G	4: 115,780,595	S4P	probably benign	Het
Top2b	T	A	14: 16,393,239	H299Q	probably benign	Het
Trim55	C	A	3: 19,659,177	R131S	probably benign	Het
Vmn2r109	A	T	17: 20,554,269	Y275N	possibly damaging	Het
Vmn2r116	C	T	17: 23,386,942	T276I	possibly damaging	Het

Other mutations in Slc6a19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02401:Slc6a19	APN	13	73700590	missense	probably damaging	1.00
IGL02425:Slc6a19	APN	13	73691800	missense	probably benign	0.00
IGL03030:Slc6a19	APN	13	73700471	missense	probably damaging	1.00
IGL03067:Slc6a19	APN	13	73689730	nonsense	probably null
IGL03216:Slc6a19	APN	13	73686181	missense	probably benign
IGL03330:Slc6a19	APN	13	73689560	missense	possibly damaging	0.95
momentum	UTSW	13	73681717	missense	probably damaging	0.98
rifling	UTSW	13	73685840	nonsense	probably null
H8562:Slc6a19	UTSW	13	73700124	intron	probably benign
R0107:Slc6a19	UTSW	13	73684057	missense	possibly damaging	0.93
R0446:Slc6a19	UTSW	13	73691695	missense	probably benign	0.01
R1422:Slc6a19	UTSW	13	73685869	missense	probably benign	0.05
R1443:Slc6a19	UTSW	13	73684344	missense	probably damaging	1.00
R1501:Slc6a19	UTSW	13	73684048	missense	probably benign	0.08
R1564:Slc6a19	UTSW	13	73686124	missense	probably damaging	1.00
R1632:Slc6a19	UTSW	13	73689908	splice site	probably null
R1832:Slc6a19	UTSW	13	73692950	missense	probably benign
R2077:Slc6a19	UTSW	13	73700566	missense	probably benign
R4418:Slc6a19	UTSW	13	73684395	missense	possibly damaging	0.93
R4486:Slc6a19	UTSW	13	73681717	missense	probably damaging	0.98
R4510:Slc6a19	UTSW	13	73683975	missense	probably damaging	1.00
R4511:Slc6a19	UTSW	13	73683975	missense	probably damaging	1.00
R4803:Slc6a19	UTSW	13	73684042	missense	possibly damaging	0.91
R4965:Slc6a19	UTSW	13	73700558	missense	probably benign	0.00
R4988:Slc6a19	UTSW	13	73685840	nonsense	probably null
R5085:Slc6a19	UTSW	13	73691753	missense	probably benign	0.11
R5533:Slc6a19	UTSW	13	73685829	missense	possibly damaging	0.67
R5851:Slc6a19	UTSW	13	73691740	missense	possibly damaging	0.55
R5874:Slc6a19	UTSW	13	73684368	missense	probably damaging	0.98
R6074:Slc6a19	UTSW	13	73689763	missense	probably benign	0.00
R6608:Slc6a19	UTSW	13	73683972	missense	probably damaging	1.00
R7275:Slc6a19	UTSW	13	73686078	missense	probably benign	0.11
R7386:Slc6a19	UTSW	13	73689891	missense	possibly damaging	0.91
R7388:Slc6a19	UTSW	13	73693084	missense	probably benign	0.30
R7393:Slc6a19	UTSW	13	73692974	missense	probably benign	0.00
R7832:Slc6a19	UTSW	13	73693063	missense	probably damaging	0.99
R7900:Slc6a19	UTSW	13	73700464	missense	probably damaging	1.00
R8220:Slc6a19	UTSW	13	73685770	missense	probably damaging	1.00
R8713:Slc6a19	UTSW	13	73700621	missense	probably benign	0.19
R9457:Slc6a19	UTSW	13	73681765	missense	probably damaging	0.98
R9569:Slc6a19	UTSW	13	73685911	missense	probably benign	0.00
R9662:Slc6a19	UTSW	13	73691703	nonsense	probably null
Z1088:Slc6a19	UTSW	13	73689730	missense	possibly damaging	0.82
Z1177:Slc6a19	UTSW	13	73684258	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CTGGGCACTCACATAGTTAGG -3'
(R):5'- TGCCCTCATTGTCACATGAC -3'

Sequencing Primer
(F):5'- CTCACATAGTTAGGGTCCCAGATG -3'
(R):5'- GAGACCTCTGATGATGAGTTCATAGC -3'

Posted On

2021-10-11