Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00434:Slc38a1'

4047

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc38a1

Ensembl Gene

ENSMUSG00000023169

Gene Name

solute carrier family 38, member 1

Synonyms

SNAT1, NAT2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

IGL00434

Quality Score

Status

Chromosome

Chromosomal Location

96469299-96540794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96483504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 275 (Y275H)

Ref Sequence

ENSEMBL: ENSMUSP00000097833 (fasta)

Gene Model

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

AlphaFold

Q8K2P7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088452
AA Change: Y275H

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085799
Gene: ENSMUSG00000023169
AA Change: Y275H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088454
AA Change: Y275H

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085801
Gene: ENSMUSG00000023169
AA Change: Y275H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100262
AA Change: Y275H

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097833
Gene: ENSMUSG00000023169
AA Change: Y275H

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	C	15: 96,269,181 (GRCm39)	V1098A	probably damaging	Het
Bltp1	T	C	3: 37,041,448 (GRCm39)	F2609L	probably damaging	Het
Ccdc126	C	T	6: 49,311,239 (GRCm39)		probably benign	Het
Cds2	T	C	2: 132,135,271 (GRCm39)	L54P	probably damaging	Het
Cdsn	A	T	17: 35,865,740 (GRCm39)	S90C	unknown	Het
Clcn6	G	T	4: 148,098,195 (GRCm39)	D581E	probably damaging	Het
Clec4f	T	A	6: 83,630,198 (GRCm39)	H120L	possibly damaging	Het
Col12a1	T	C	9: 79,560,614 (GRCm39)	T1838A	probably benign	Het
Col22a1	T	C	15: 71,878,524 (GRCm39)	D211G	possibly damaging	Het
Cpne8	T	C	15: 90,381,261 (GRCm39)		probably benign	Het
Dgkk	T	A	X: 6,772,697 (GRCm39)	M462K	probably benign	Het
Dhx29	T	A	13: 113,091,759 (GRCm39)	H834Q	probably benign	Het
Esyt1	A	G	10: 128,353,504 (GRCm39)	Y578H	possibly damaging	Het
Fnip2	C	A	3: 79,419,796 (GRCm39)		probably benign	Het
Fut1	T	G	7: 45,268,855 (GRCm39)	C270G	probably damaging	Het
Ganab	T	A	19: 8,884,707 (GRCm39)	V170D	probably damaging	Het
Gys1	T	A	7: 45,094,256 (GRCm39)	M364K	possibly damaging	Het
Ighv1-85	A	C	12: 115,963,654 (GRCm39)	C115W	probably damaging	Het
Igkv4-74	T	G	6: 69,162,044 (GRCm39)	T42P	probably damaging	Het
Jmjd4	A	G	11: 59,341,321 (GRCm39)	Y84C	probably damaging	Het
Kif11	A	C	19: 37,399,857 (GRCm39)	E781D	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Klf1	C	T	8: 85,628,628 (GRCm39)	P9S	possibly damaging	Het
Lrrn3	T	C	12: 41,502,191 (GRCm39)		probably benign	Het
Ltbp4	C	A	7: 27,028,230 (GRCm39)	R309L	probably damaging	Het
Marchf10	T	C	11: 105,293,014 (GRCm39)	E131G	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mgme1	T	A	2: 144,121,056 (GRCm39)		probably benign	Het
Nkiras2	G	A	11: 100,515,808 (GRCm39)	G45D	probably damaging	Het
Orc2	A	T	1: 58,532,875 (GRCm39)	D16E	possibly damaging	Het
Pcyox1l	T	C	18: 61,830,613 (GRCm39)	T420A	probably benign	Het
Pira13	C	A	7: 3,826,088 (GRCm39)	G302C	probably damaging	Het
Pm20d1	A	G	1: 131,741,738 (GRCm39)		probably benign	Het
Ppp1r3c	T	C	19: 36,711,503 (GRCm39)	D89G	probably damaging	Het
Ppp2ca	G	A	11: 52,012,776 (GRCm39)	R302H	probably benign	Het
Riok3	T	C	18: 12,281,904 (GRCm39)	V291A	probably damaging	Het
Rragd	A	G	4: 33,007,219 (GRCm39)		probably benign	Het
Scai	C	A	2: 38,998,406 (GRCm39)	L174F	probably damaging	Het
Slc25a44	T	C	3: 88,323,369 (GRCm39)	I227V	probably benign	Het
Slc35f1	T	C	10: 52,938,548 (GRCm39)	L160P	probably damaging	Het
Slco6b1	A	G	1: 96,916,375 (GRCm39)		noncoding transcript	Het
Spag8	G	T	4: 43,652,890 (GRCm39)	C190*	probably null	Het
Tbr1	T	C	2: 61,635,625 (GRCm39)	F192L	probably benign	Het
Tti1	C	T	2: 157,850,886 (GRCm39)	E118K	probably damaging	Het
Tti1	T	A	2: 157,850,885 (GRCm39)	E118V	probably damaging	Het
Vcan	G	T	13: 89,852,821 (GRCm39)	P713Q	probably damaging	Het
Vcf2	A	T	X: 149,181,395 (GRCm39)	V132E	possibly damaging	Het
Wt1	G	T	2: 104,974,486 (GRCm39)		probably null	Het
Xylt1	T	A	7: 117,249,912 (GRCm39)	I694N	probably damaging	Het
Zfp516	T	A	18: 82,975,233 (GRCm39)	M477K	probably benign	Het

Other mutations in Slc38a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8195:Slc38a1	UTSW	15	96,490,447 (GRCm39)	missense	probably benign	0.27
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

Posted On

2012-04-20