Mutagenetix > Incidental Mutation

Incidental Mutation 'R8195:Slc38a1'

635423

Institutional Source

Beutler Lab

Gene Symbol

Slc38a1

Ensembl Gene

ENSMUSG00000023169

Gene Name

solute carrier family 38, member 1

Synonyms

SNAT1, NAT2

MMRRC Submission

067618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R8195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96469299-96540794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 96490447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 110 (S110L)

Ref Sequence

ENSEMBL: ENSMUSP00000085799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088452] [ENSMUST00000088454] [ENSMUST00000100262]

AlphaFold

Q8K2P7

Predicted Effect

probably benign
Transcript: ENSMUST00000088452
AA Change: S110L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085799
Gene: ENSMUSG00000023169
AA Change: S110L

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	69	473	6.1e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088454
AA Change: S110L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085801
Gene: ENSMUSG00000023169
AA Change: S110L

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	69	473	5.8e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100262
AA Change: S110L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097833
Gene: ENSMUSG00000023169
AA Change: S110L

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	69	473	5.8e-82	PFAM

Meta Mutation Damage Score

0.0844

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,224,735 (GRCm39)	G483R	probably benign	Het
Abca9	T	C	11: 110,029,155 (GRCm39)	D801G	probably benign	Het
Aldob	T	C	4: 49,538,822 (GRCm39)	N232S	probably damaging	Het
Ankhd1	T	C	18: 36,787,230 (GRCm39)	V322A		Het
Arfgef1	T	C	1: 10,243,478 (GRCm39)	K1024E	probably damaging	Het
Arhgef40	T	A	14: 52,226,226 (GRCm39)	V90E	probably damaging	Het
Cblc	A	T	7: 19,519,262 (GRCm39)	S399R	possibly damaging	Het
Ccdc17	T	A	4: 116,456,211 (GRCm39)	I368K	possibly damaging	Het
Ccdc17	T	A	4: 116,456,213 (GRCm39)	W369R	probably damaging	Het
Cd276	G	A	9: 58,444,755 (GRCm39)	T72I	probably damaging	Het
Cdk14	C	T	5: 5,277,159 (GRCm39)		probably null	Het
Cfap61	C	T	2: 145,789,095 (GRCm39)	S33L	probably benign	Het
Cmtm2a	A	G	8: 105,019,670 (GRCm39)	F7L	probably benign	Het
Eif2ak4	T	C	2: 118,280,819 (GRCm39)	I1062T	possibly damaging	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Fxr1	A	T	3: 34,101,878 (GRCm39)	E204V	probably damaging	Het
Fzd6	T	A	15: 38,894,959 (GRCm39)	L375Q	probably damaging	Het
Ggta1	T	A	2: 35,312,279 (GRCm39)	E33V	probably damaging	Het
Gnb1l	T	A	16: 18,362,965 (GRCm39)	I119N	probably benign	Het
Gpsm1	A	G	2: 26,214,929 (GRCm39)		probably null	Het
Hecw1	A	G	13: 14,480,692 (GRCm39)	I885T	probably damaging	Het
Itgb8	T	C	12: 119,131,905 (GRCm39)	D580G	probably damaging	Het
Kbtbd12	T	A	6: 88,594,913 (GRCm39)	T306S	possibly damaging	Het
Kctd1	C	T	18: 15,196,300 (GRCm39)	E108K	unknown	Het
Lrrc36	A	G	8: 106,178,717 (GRCm39)	D304G	possibly damaging	Het
Lrrn2	A	G	1: 132,865,082 (GRCm39)	E49G	probably damaging	Het
Lysmd2	C	A	9: 75,533,310 (GRCm39)	Y88*	probably null	Het
Lzts3	A	G	2: 130,477,105 (GRCm39)	S448P	probably benign	Het
Meioc	T	A	11: 102,565,893 (GRCm39)	L447*	probably null	Het
Mybpc1	A	G	10: 88,394,553 (GRCm39)	I244T	possibly damaging	Het
Necab3	G	A	2: 154,389,363 (GRCm39)	A160V	probably benign	Het
Nek8	G	T	11: 78,061,587 (GRCm39)	P314Q	possibly damaging	Het
Nlrp5	A	G	7: 23,112,762 (GRCm39)	T140A	probably benign	Het
Or10p21	T	C	10: 128,847,444 (GRCm39)	C97R	probably damaging	Het
Or52ac1	A	T	7: 104,246,133 (GRCm39)	F85Y	probably damaging	Het
Or7e169	A	T	9: 19,757,780 (GRCm39)	I45N	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pgm3	G	A	9: 86,452,374 (GRCm39)	R29W	probably damaging	Het
Ppp2r3d	A	G	9: 101,090,231 (GRCm39)	C31R	probably damaging	Het
Prom1	C	T	5: 44,194,770 (GRCm39)	S334N	possibly damaging	Het
Rai14	C	T	15: 10,575,302 (GRCm39)	S581N	probably benign	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rgs16	T	C	1: 153,616,689 (GRCm39)	F42S	probably benign	Het
Slc2a6	T	G	2: 26,917,838 (GRCm39)	E27A	probably benign	Het
Sox30	C	T	11: 45,882,592 (GRCm39)	R541C	probably benign	Het
Sptbn4	C	A	7: 27,108,314 (GRCm39)	E703*	probably null	Het
Tjp1	A	T	7: 64,993,470 (GRCm39)	F34L	probably damaging	Het
Trim65	T	C	11: 116,017,037 (GRCm39)	Q475R	probably benign	Het
Ttc38	A	T	15: 85,728,716 (GRCm39)	R223*	probably null	Het
Tulp1	T	C	17: 28,583,300 (GRCm39)	Q80R	probably benign	Het
Utp23	T	C	15: 51,745,598 (GRCm39)	F139L	possibly damaging	Het
Vmn1r121	A	T	7: 20,832,228 (GRCm39)	F71I	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zdbf2	T	C	1: 63,343,225 (GRCm39)	S535P	possibly damaging	Het
Zfp788	T	G	7: 41,298,801 (GRCm39)	M479R	probably benign	Het

Other mutations in Slc38a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Slc38a1	APN	15	96,483,504 (GRCm39)	missense	possibly damaging	0.89
IGL01376:Slc38a1	APN	15	96,483,437 (GRCm39)	missense	probably damaging	1.00
IGL01920:Slc38a1	APN	15	96,484,778 (GRCm39)	missense	probably benign
IGL01993:Slc38a1	APN	15	96,521,927 (GRCm39)	missense	probably damaging	1.00
IGL02201:Slc38a1	APN	15	96,476,679 (GRCm39)	missense	probably damaging	1.00
IGL03074:Slc38a1	APN	15	96,490,405 (GRCm39)	missense	possibly damaging	0.72
IGL03370:Slc38a1	APN	15	96,477,228 (GRCm39)	missense	possibly damaging	0.93
R0918:Slc38a1	UTSW	15	96,507,743 (GRCm39)	missense	probably damaging	1.00
R1506:Slc38a1	UTSW	15	96,483,431 (GRCm39)	missense	probably benign	0.04
R1510:Slc38a1	UTSW	15	96,507,741 (GRCm39)	missense	probably damaging	1.00
R1713:Slc38a1	UTSW	15	96,476,641 (GRCm39)	missense	probably damaging	1.00
R1721:Slc38a1	UTSW	15	96,485,016 (GRCm39)	missense	probably damaging	1.00
R1867:Slc38a1	UTSW	15	96,485,016 (GRCm39)	missense	probably damaging	1.00
R4254:Slc38a1	UTSW	15	96,483,431 (GRCm39)	missense	probably benign	0.04
R4255:Slc38a1	UTSW	15	96,483,431 (GRCm39)	missense	probably benign	0.04
R4754:Slc38a1	UTSW	15	96,474,663 (GRCm39)	missense	probably damaging	0.98
R5548:Slc38a1	UTSW	15	96,488,355 (GRCm39)	missense	probably damaging	1.00
R5610:Slc38a1	UTSW	15	96,514,022 (GRCm39)	critical splice donor site	probably null
R6235:Slc38a1	UTSW	15	96,476,673 (GRCm39)	missense	probably benign	0.36
R6288:Slc38a1	UTSW	15	96,484,759 (GRCm39)	missense	probably benign	0.12
R7904:Slc38a1	UTSW	15	96,521,921 (GRCm39)	missense	possibly damaging	0.95
R8876:Slc38a1	UTSW	15	96,514,091 (GRCm39)	missense	possibly damaging	0.93
R9515:Slc38a1	UTSW	15	96,487,965 (GRCm39)	missense	probably damaging	1.00
R9555:Slc38a1	UTSW	15	96,486,860 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CGGAGCCTTTAAAATAAGGTCATCTC -3'
(R):5'- ACTCCGGGGAACATTTCATCC -3'

Sequencing Primer
(F):5'- CCTTTAAAATAAGGTCATCTCAAACG -3'
(R):5'- CGGGGAACATTTCATCCGATGG -3'

Posted On

2020-07-13