Mutagenetix > Incidental Mutation

Incidental Mutation 'R1506:Slc38a1'

167955

Institutional Source

Beutler Lab

Gene Symbol

Slc38a1

Ensembl Gene

ENSMUSG00000023169

Gene Name

solute carrier family 38, member 1

Synonyms

SNAT1, NAT2

MMRRC Submission

039554-MU

Accession Numbers

Essential gene?

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

Stock #

R1506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96469299-96540794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96483431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 299 (D299G)

Ref Sequence

ENSEMBL: ENSMUSP00000097833 (fasta)

Gene Model

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

AlphaFold

Q8K2P7

Predicted Effect

probably benign
Transcript: ENSMUST00000088452
AA Change: D299G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000085799
Gene: ENSMUSG00000023169
AA Change: D299G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000088454
AA Change: D299G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000085801
Gene: ENSMUSG00000023169
AA Change: D299G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100262
AA Change: D299G

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000097833
Gene: ENSMUSG00000023169
AA Change: D299G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230756

Meta Mutation Damage Score

0.0721

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

98% (61/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	G	T	11: 94,248,144 (GRCm39)	T1152K	possibly damaging	Het
Acp3	T	A	9: 104,201,373 (GRCm39)	T82S	probably damaging	Het
Adam23	C	T	1: 63,586,973 (GRCm39)	P445S	probably benign	Het
Ap3b1	T	A	13: 94,582,651 (GRCm39)		probably benign	Het
Artn	A	G	4: 117,784,058 (GRCm39)	V136A	probably damaging	Het
Ash1l	A	G	3: 88,965,806 (GRCm39)	T2403A	probably damaging	Het
Bbof1	G	T	12: 84,470,273 (GRCm39)	V120L	probably damaging	Het
Boc	A	G	16: 44,323,928 (GRCm39)	Y158H	probably damaging	Het
Casp8	A	G	1: 58,863,355 (GRCm39)	E105G	probably damaging	Het
Cers4	T	C	8: 4,570,557 (GRCm39)	F206L	probably benign	Het
Chrna9	A	G	5: 66,126,479 (GRCm39)	T78A	probably benign	Het
Creb3	A	T	4: 43,566,193 (GRCm39)	T263S	possibly damaging	Het
Cyp2c40	A	G	19: 39,766,443 (GRCm39)	V384A	probably damaging	Het
Dip2b	G	A	15: 100,080,994 (GRCm39)	V879M	probably damaging	Het
Dnah17	C	A	11: 118,016,213 (GRCm39)	V14F	possibly damaging	Het
Epb41l4b	T	A	4: 57,088,824 (GRCm39)	K144N	probably damaging	Het
Ercc6	A	T	14: 32,291,821 (GRCm39)	I1062F	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fat2	C	A	11: 55,175,090 (GRCm39)	E1874D	probably benign	Het
Fbxw21	T	A	9: 108,977,257 (GRCm39)	I151F	probably damaging	Het
Fhip2a	A	G	19: 57,357,007 (GRCm39)	I33V	probably benign	Het
Foxn1	A	G	11: 78,256,761 (GRCm39)		probably benign	Het
Gpr63	G	A	4: 25,008,227 (GRCm39)	R317H	probably damaging	Het
Grip1	C	A	10: 119,814,356 (GRCm39)	H296N	probably damaging	Het
Gtdc1	A	T	2: 44,465,506 (GRCm39)	M288K	possibly damaging	Het
Guf1	T	A	5: 69,724,509 (GRCm39)	D488E	possibly damaging	Het
Gvin3	C	T	7: 106,200,788 (GRCm39)	D819N	probably benign	Het
Heatr5b	C	A	17: 79,060,576 (GRCm39)	R2033L	probably damaging	Het
Hsd17b2	T	A	8: 118,429,004 (GRCm39)		probably null	Het
Ino80	A	T	2: 119,255,746 (GRCm39)	L913*	probably null	Het
Inppl1	A	C	7: 101,473,174 (GRCm39)	S1159A	probably benign	Het
Kcnk7	G	A	19: 5,756,140 (GRCm39)	C122Y	probably damaging	Het
Mtor	A	G	4: 148,620,962 (GRCm39)		probably benign	Het
Muc4	A	T	16: 32,574,033 (GRCm39)	S704C	possibly damaging	Het
Nckap5	A	T	1: 125,953,650 (GRCm39)	C967*	probably null	Het
Nek10	T	C	14: 14,999,078 (GRCm38)		probably benign	Het
Oas1h	A	T	5: 121,009,951 (GRCm39)	D342V	possibly damaging	Het
Or10j2	A	G	1: 173,098,336 (GRCm39)	N198S	probably benign	Het
Or2ak7	T	A	11: 58,575,014 (GRCm39)	L105Q	probably benign	Het
Or2n1	A	T	17: 38,486,091 (GRCm39)	M39L	probably benign	Het
Or4m1	A	G	14: 50,557,941 (GRCm39)	V117A	probably benign	Het
Or8b1b	T	C	9: 38,375,439 (GRCm39)	M34T	probably benign	Het
Prex1	A	T	2: 166,429,001 (GRCm39)	V694E	probably damaging	Het
Rad50	G	A	11: 53,570,312 (GRCm39)	A810V	probably damaging	Het
Rcor1	T	C	12: 111,076,271 (GRCm39)	S410P	probably damaging	Het
Rps14	A	T	18: 60,909,551 (GRCm39)	N26I	probably benign	Het
Slc5a1	T	A	5: 33,312,052 (GRCm39)	N481K	possibly damaging	Het
Slco3a1	A	T	7: 74,009,683 (GRCm39)		probably null	Het
Spart	T	C	3: 55,024,992 (GRCm39)	S196P	probably damaging	Het
Speg	A	G	1: 75,394,307 (GRCm39)	T1701A	probably benign	Het
Sugt1	A	G	14: 79,862,365 (GRCm39)	N271S	probably benign	Het
Tbx15	A	T	3: 99,259,228 (GRCm39)	L366F	possibly damaging	Het
Tnc	G	A	4: 63,925,921 (GRCm39)	T953I	possibly damaging	Het
Uqcc1	A	G	2: 155,753,738 (GRCm39)	S46P	probably damaging	Het
Vmn2r18	T	C	5: 151,499,099 (GRCm39)		probably null	Het
Vmn2r7	T	A	3: 64,614,500 (GRCm39)	Y438F	probably benign	Het
Vmn2r72	T	A	7: 85,398,419 (GRCm39)	K520N	probably benign	Het
Vps52	T	C	17: 34,176,868 (GRCm39)	L74P	probably damaging	Het
Xpo5	G	T	17: 46,538,814 (GRCm39)	M673I	probably benign	Het
Zscan18	A	G	7: 12,508,129 (GRCm39)	V457A	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GCCTGTGTCGCTTTATACCATAGCC -3'
(R):5'- CCCTAAGACAGCAGCGTGATCTTTG -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- TGCTTTACCAACCATCGCCT -3'

Posted On

2014-04-13