Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02201:Slc38a1'

284202

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc38a1

Ensembl Gene

ENSMUSG00000023169

Gene Name

solute carrier family 38, member 1

Synonyms

NAT2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL02201

Quality Score

Status

Chromosome

Chromosomal Location

96571418-96642913 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96578798 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 394 (V394E)

Ref Sequence

ENSEMBL: ENSMUSP00000097833 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000088452
AA Change: V394E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085799
Gene: ENSMUSG00000023169
AA Change: V394E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000088454
AA Change: V394E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085801
Gene: ENSMUSG00000023169
AA Change: V394E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100262
AA Change: V394E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097833
Gene: ENSMUSG00000023169
AA Change: V394E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230756

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	G	A	1: 78,699,153	G484R	probably damaging	Het
Adgrb3	A	G	1: 25,420,550		probably benign	Het
Akr1c14	A	G	13: 4,081,022	D238G	probably damaging	Het
Ccdc88b	T	A	19: 6,846,631	D1418V	probably damaging	Het
Cnnm4	A	T	1: 36,472,750	K353M	probably damaging	Het
Col6a6	A	G	9: 105,780,995	F673L	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dyrk1a	A	G	16: 94,692,149	E747G	probably benign	Het
Eml5	T	A	12: 98,794,424		probably benign	Het
Ercc6l2	A	G	13: 63,852,969	N516D	probably benign	Het
Fbxl17	A	G	17: 63,499,029	L330P	probably damaging	Het
Fgr	A	T	4: 132,994,924	Y168F	probably damaging	Het
Frem2	T	G	3: 53,519,640	K2962N	probably benign	Het
Hdac4	G	T	1: 91,987,660		probably null	Het
Il1r1	A	T	1: 40,313,268	N533Y	probably damaging	Het
Kcnab2	T	C	4: 152,401,918		probably benign	Het
Knl1	C	T	2: 119,069,152	P445S	probably benign	Het
Lamb2	G	A	9: 108,487,542	C1165Y	probably damaging	Het
Nisch	C	T	14: 31,187,094		probably benign	Het
Olfr1097	A	G	2: 86,891,076	L33P	probably damaging	Het
Olfr1357	C	T	10: 78,612,270	V124M	probably damaging	Het
Olfr164	A	T	16: 19,286,462	S94T	probably benign	Het
Olfr889	A	G	9: 38,116,597	D267G	probably benign	Het
Pde3b	T	A	7: 114,534,608	M953K	probably damaging	Het
Pdzph1	A	G	17: 58,967,511		probably benign	Het
Plce1	T	C	19: 38,769,446		probably benign	Het
Prr23a3	G	T	9: 98,865,244	V84L	possibly damaging	Het
Psg26	A	G	7: 18,480,146	V197A	probably benign	Het
Ptpa	T	A	2: 30,446,377	C80S	possibly damaging	Het
Ripk4	A	T	16: 97,755,177	V122E	possibly damaging	Het
Scd2	A	G	19: 44,301,340	N258S	probably damaging	Het
Slc7a15	A	G	12: 8,539,023	S175P	possibly damaging	Het
Tacc2	T	A	7: 130,626,212	D1542E	possibly damaging	Het
Trim67	G	T	8: 124,794,058	R53L	probably benign	Het
Urah	A	T	7: 140,835,663	T38S	probably damaging	Het
Vps13c	A	G	9: 67,967,136	S3362G	probably damaging	Het
Wwc1	T	C	11: 35,844,151		probably benign	Het
Zfyve28	T	C	5: 34,243,205	T50A	probably damaging	Het

Other mutations in Slc38a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Slc38a1	APN	15	96585623	missense	possibly damaging	0.89
IGL01376:Slc38a1	APN	15	96585556	missense	probably damaging	1.00
IGL01920:Slc38a1	APN	15	96586897	missense	probably benign
IGL01993:Slc38a1	APN	15	96624046	missense	probably damaging	1.00
IGL03074:Slc38a1	APN	15	96592524	missense	possibly damaging	0.72
IGL03370:Slc38a1	APN	15	96579347	missense	possibly damaging	0.93
R0918:Slc38a1	UTSW	15	96609862	missense	probably damaging	1.00
R1506:Slc38a1	UTSW	15	96585550	missense	probably benign	0.04
R1510:Slc38a1	UTSW	15	96609860	missense	probably damaging	1.00
R1713:Slc38a1	UTSW	15	96578760	missense	probably damaging	1.00
R1721:Slc38a1	UTSW	15	96587135	missense	probably damaging	1.00
R1867:Slc38a1	UTSW	15	96587135	missense	probably damaging	1.00
R4254:Slc38a1	UTSW	15	96585550	missense	probably benign	0.04
R4255:Slc38a1	UTSW	15	96585550	missense	probably benign	0.04
R4754:Slc38a1	UTSW	15	96576782	missense	probably damaging	0.98
R5548:Slc38a1	UTSW	15	96590474	missense	probably damaging	1.00
R5610:Slc38a1	UTSW	15	96616141	critical splice donor site	probably null
R6235:Slc38a1	UTSW	15	96578792	missense	probably benign	0.36
R6288:Slc38a1	UTSW	15	96586878	missense	probably benign	0.12
R7904:Slc38a1	UTSW	15	96624040	missense	possibly damaging	0.95
R8195:Slc38a1	UTSW	15	96592566	missense	probably benign	0.27

Posted On

2015-04-16