Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01116:Slc38a2'

52821

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc38a2

Ensembl Gene

ENSMUSG00000022462

Gene Name

solute carrier family 38, member 2

Synonyms

SNAT2, 5033402L14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

IGL01116

Quality Score

Status

Chromosome

Chromosomal Location

96585273-96597611 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 96591066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023099]

AlphaFold

Q8CFE6

Predicted Effect

probably benign
Transcript: ENSMUST00000023099

SMART Domains

Protein: ENSMUSP00000023099
Gene: ENSMUSG00000022462

Domain	Start	End	E-Value	Type
low complexity region	10	30	N/A	INTRINSIC
Pfam:Aa_trans	69	492	2e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229141

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(18) : Targeted(2) Gene trapped(16)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,849,911 (GRCm39)	M951L	probably benign	Het
Als2	T	C	1: 59,225,163 (GRCm39)		probably benign	Het
Arhgap26	T	C	18: 39,244,856 (GRCm39)	V167A	probably damaging	Het
Bbs1	A	G	19: 4,952,867 (GRCm39)		probably benign	Het
Capn11	A	T	17: 45,949,806 (GRCm39)		probably benign	Het
Cenpl	G	T	1: 160,910,857 (GRCm39)	S268I	possibly damaging	Het
Coq8b	T	C	7: 26,939,282 (GRCm39)	V144A	possibly damaging	Het
Exo1	T	A	1: 175,728,963 (GRCm39)	C10S	possibly damaging	Het
Fam193b	A	T	13: 55,691,266 (GRCm39)	S203T	probably damaging	Het
Ggact	T	C	14: 123,129,167 (GRCm39)	N16S	probably damaging	Het
Gm3940	A	T	1: 52,129,882 (GRCm39)		probably benign	Het
Gm5458	G	T	14: 19,649,760 (GRCm39)	L155I	probably damaging	Het
Golm1	T	C	13: 59,797,470 (GRCm39)	K125R	probably damaging	Het
Gpatch4	A	G	3: 87,962,312 (GRCm39)	E175G	probably damaging	Het
Gria1	A	G	11: 57,127,801 (GRCm39)	N337D	probably damaging	Het
Gripap1	G	A	X: 7,678,705 (GRCm39)	G464D	probably benign	Het
Grk1	A	G	8: 13,455,404 (GRCm39)	D96G	possibly damaging	Het
Hsf1	T	C	15: 76,382,403 (GRCm39)	V258A	probably benign	Het
Ighv7-4	A	G	12: 114,186,653 (GRCm39)	S40P	probably damaging	Het
Igkv4-50	G	A	6: 69,677,921 (GRCm39)	S61L	probably benign	Het
Igkv4-62	C	T	6: 69,377,035 (GRCm39)	G38E	probably damaging	Het
Ints1	T	C	5: 139,757,437 (GRCm39)	D358G	probably damaging	Het
Madd	A	G	2: 90,984,888 (GRCm39)		probably benign	Het
Map3k6	A	G	4: 132,974,439 (GRCm39)	S580G	probably damaging	Het
Myef2	A	G	2: 124,940,402 (GRCm39)	M383T	probably damaging	Het
Myo3b	T	C	2: 70,119,730 (GRCm39)	L930P	probably damaging	Het
Ndufaf3	C	T	9: 108,444,068 (GRCm39)	R20Q	probably benign	Het
Npr2	T	C	4: 43,640,248 (GRCm39)	S328P	probably damaging	Het
Or1r1	A	T	11: 73,875,144 (GRCm39)	C97S	probably damaging	Het
Or4k15b	T	A	14: 50,272,507 (GRCm39)	M118L	probably benign	Het
Pdpr	T	C	8: 111,839,342 (GRCm39)	I155T	possibly damaging	Het
Phf11b	A	T	14: 59,560,631 (GRCm39)	I216K	probably benign	Het
Phkg1	T	C	5: 129,893,813 (GRCm39)		probably null	Het
Pik3r6	A	G	11: 68,422,276 (GRCm39)	Y225C	probably benign	Het
Plekhh2	A	T	17: 84,914,356 (GRCm39)	D1253V	possibly damaging	Het
Plppr3	T	C	10: 79,702,757 (GRCm39)	T155A	probably damaging	Het
Ppp6r2	T	C	15: 89,166,192 (GRCm39)	F732S	probably damaging	Het
Ryr1	A	G	7: 28,799,627 (GRCm39)		probably benign	Het
Slc16a8	T	G	15: 79,135,432 (GRCm39)	S459R	probably damaging	Het
Slc25a12	A	T	2: 71,123,696 (GRCm39)		probably benign	Het
Slit1	C	A	19: 41,594,824 (GRCm39)	W1182L	possibly damaging	Het
Snx2	C	T	18: 53,327,495 (GRCm39)		probably benign	Het
Sos1	A	T	17: 80,752,929 (GRCm39)	V335D	probably damaging	Het
St18	A	G	1: 6,872,856 (GRCm39)	D197G	probably damaging	Het
Ston2	G	T	12: 91,615,522 (GRCm39)	N295K	possibly damaging	Het
Stpg3	A	G	2: 25,103,191 (GRCm39)		probably benign	Het
Tmem63a	A	G	1: 180,799,654 (GRCm39)	I675V	probably damaging	Het
Vmn2r16	T	A	5: 109,488,294 (GRCm39)	L389Q	probably damaging	Het
Vps13d	C	A	4: 144,699,320 (GRCm39)		probably benign	Het
Wdfy4	A	T	14: 32,681,934 (GRCm39)	D3012E	probably damaging	Het

Other mutations in Slc38a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Slc38a2	APN	15	96,590,936 (GRCm39)	missense	possibly damaging	0.78
IGL01679:Slc38a2	APN	15	96,595,835 (GRCm39)	nonsense	probably null
IGL01720:Slc38a2	APN	15	96,589,092 (GRCm39)	splice site	probably benign
IGL02198:Slc38a2	APN	15	96,590,258 (GRCm39)	missense	probably damaging	0.99
IGL02685:Slc38a2	APN	15	96,589,306 (GRCm39)	missense	probably benign	0.00
IGL03211:Slc38a2	APN	15	96,596,153 (GRCm39)	splice site	probably null
P0014:Slc38a2	UTSW	15	96,588,042 (GRCm39)	missense	probably damaging	0.96
R0068:Slc38a2	UTSW	15	96,589,173 (GRCm39)	splice site	probably null
R0068:Slc38a2	UTSW	15	96,589,173 (GRCm39)	splice site	probably null
R0684:Slc38a2	UTSW	15	96,593,168 (GRCm39)	nonsense	probably null
R1537:Slc38a2	UTSW	15	96,591,034 (GRCm39)	missense	possibly damaging	0.50
R1638:Slc38a2	UTSW	15	96,590,417 (GRCm39)	missense	probably damaging	1.00
R1922:Slc38a2	UTSW	15	96,589,043 (GRCm39)	missense	possibly damaging	0.95
R2294:Slc38a2	UTSW	15	96,589,643 (GRCm39)	missense	probably benign
R4672:Slc38a2	UTSW	15	96,596,518 (GRCm39)	missense	probably benign	0.00
R5799:Slc38a2	UTSW	15	96,592,970 (GRCm39)	missense	probably benign	0.29
R5878:Slc38a2	UTSW	15	96,590,465 (GRCm39)	missense	probably damaging	0.96
R6188:Slc38a2	UTSW	15	96,590,397 (GRCm39)	critical splice donor site	probably null
R7097:Slc38a2	UTSW	15	96,591,182 (GRCm39)	missense	probably damaging	0.98
R7122:Slc38a2	UTSW	15	96,591,182 (GRCm39)	missense	probably damaging	0.98
R7130:Slc38a2	UTSW	15	96,589,263 (GRCm39)	missense	probably damaging	1.00
R7224:Slc38a2	UTSW	15	96,589,240 (GRCm39)	missense	probably damaging	1.00
R7776:Slc38a2	UTSW	15	96,588,033 (GRCm39)	missense	probably benign	0.04
R7896:Slc38a2	UTSW	15	96,591,466 (GRCm39)	missense	probably damaging	1.00
R7964:Slc38a2	UTSW	15	96,590,453 (GRCm39)	missense	probably benign	0.29
R8427:Slc38a2	UTSW	15	96,590,294 (GRCm39)	missense	probably damaging	0.98
R8487:Slc38a2	UTSW	15	96,593,172 (GRCm39)	nonsense	probably null
R8845:Slc38a2	UTSW	15	96,592,900 (GRCm39)	missense	probably benign	0.00
R9400:Slc38a2	UTSW	15	96,591,053 (GRCm39)	missense	probably benign	0.14
R9606:Slc38a2	UTSW	15	96,591,172 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21