Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02106:Slc38a6'

279977

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc38a6

Ensembl Gene

ENSMUSG00000044712

Gene Name

solute carrier family 38, member 6

Synonyms

EG625098

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL02106

Quality Score

Status

Chromosome

Chromosomal Location

73333553-73400823 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 73397320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 321 (S321R)

Ref Sequence

ENSEMBL: ENSMUSP00000120810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140523]

AlphaFold

G3UVW3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140523
AA Change: S321R

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120810
Gene: ENSMUSG00000044712
AA Change: S321R

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	452	2.5e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222671

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9l	A	G	9: 44,420,496 (GRCm39)	N1264D	probably benign	Het
Bmyc	A	G	2: 25,597,082 (GRCm39)	K49E	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Ceacam2	A	G	7: 25,230,166 (GRCm39)	S147P	probably benign	Het
Cep152	G	T	2: 125,444,856 (GRCm39)		probably null	Het
Cnbd1	G	T	4: 18,894,993 (GRCm39)	P250T	possibly damaging	Het
Col6a4	A	G	9: 105,940,304 (GRCm39)	C1209R	possibly damaging	Het
Coro1c	T	C	5: 113,990,334 (GRCm39)	T116A	probably benign	Het
Ddx46	A	G	13: 55,825,416 (GRCm39)		probably benign	Het
Dnaaf5	T	C	5: 139,137,268 (GRCm39)	I207T	probably damaging	Het
Erap1	A	G	13: 74,794,758 (GRCm39)	D139G	probably benign	Het
Fbxw22	A	T	9: 109,231,087 (GRCm39)	I121N	possibly damaging	Het
Fcmr	T	C	1: 130,802,872 (GRCm39)	S162P	probably benign	Het
Gadl1	A	G	9: 115,766,225 (GRCm39)		probably benign	Het
Gli2	T	A	1: 118,764,465 (GRCm39)	S1229C	probably benign	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gne	T	C	4: 44,037,306 (GRCm39)	N692D	probably damaging	Het
Knl1	A	G	2: 118,902,489 (GRCm39)	T1397A	possibly damaging	Het
Lama3	C	A	18: 12,601,371 (GRCm39)	A1016E	probably damaging	Het
Lhfpl2	A	G	13: 94,328,419 (GRCm39)	D160G	probably benign	Het
Lmtk2	T	A	5: 144,112,769 (GRCm39)	V1163E	probably benign	Het
Lrrtm2	G	T	18: 35,345,868 (GRCm39)	S478*	probably null	Het
Nfatc2ip	T	C	7: 125,989,736 (GRCm39)		probably null	Het
Nlrp12	A	G	7: 3,282,574 (GRCm39)	I775T	probably benign	Het
Npr1	A	G	3: 90,372,165 (GRCm39)	F216L	probably benign	Het
Or4m1	A	T	14: 50,557,617 (GRCm39)	L225H	probably damaging	Het
Or5ac24	T	A	16: 59,165,387 (GRCm39)	N226Y	probably benign	Het
Or5b99	G	T	19: 12,976,929 (GRCm39)	S193I	possibly damaging	Het
Pkd1l1	C	A	11: 8,783,800 (GRCm39)	G2052C	probably damaging	Het
Ppp1r16b	A	G	2: 158,588,451 (GRCm39)	N112S	possibly damaging	Het
Prr11	A	G	11: 86,994,141 (GRCm39)		probably benign	Het
Scap	A	G	9: 110,210,724 (GRCm39)		probably benign	Het
Sirt1	C	T	10: 63,171,608 (GRCm39)	R191Q	probably damaging	Het
Sp140	T	C	1: 85,570,940 (GRCm39)	V460A	probably benign	Het
Spdye4c	A	T	2: 128,434,586 (GRCm39)	K54N	possibly damaging	Het
Spta1	T	A	1: 174,030,860 (GRCm39)	N947K	probably benign	Het
Srgap1	A	G	10: 121,621,598 (GRCm39)	V965A	possibly damaging	Het
Tmem209	A	C	6: 30,508,659 (GRCm39)		probably null	Het
Trim37	A	T	11: 87,092,230 (GRCm39)	K123*	probably null	Het
Trio	T	C	15: 27,744,244 (GRCm39)	T2563A	possibly damaging	Het
Utrn	A	T	10: 12,289,717 (GRCm39)	S734T	possibly damaging	Het
Vars2	A	G	17: 35,975,513 (GRCm39)		probably benign	Het
Xrn1	G	A	9: 95,859,858 (GRCm39)	E417K	probably benign	Het
Yeats2	T	A	16: 20,011,970 (GRCm39)	V515E	possibly damaging	Het

Other mutations in Slc38a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Slc38a6	APN	12	73,398,577 (GRCm39)	missense	probably benign	0.00
IGL01083:Slc38a6	APN	12	73,335,267 (GRCm39)	missense	possibly damaging	0.94
IGL01302:Slc38a6	APN	12	73,335,299 (GRCm39)	critical splice donor site	probably null
IGL02429:Slc38a6	APN	12	73,397,342 (GRCm39)	missense	probably benign	0.18
IGL02815:Slc38a6	APN	12	73,338,979 (GRCm39)	missense	probably damaging	1.00
IGL03001:Slc38a6	APN	12	73,383,827 (GRCm39)	missense	probably benign	0.03
IGL03167:Slc38a6	APN	12	73,397,311 (GRCm39)	nonsense	probably null
R0394:Slc38a6	UTSW	12	73,399,304 (GRCm39)	missense	probably benign
R0918:Slc38a6	UTSW	12	73,391,559 (GRCm39)	splice site	probably null
R1377:Slc38a6	UTSW	12	73,397,345 (GRCm39)	missense	probably damaging	0.98
R1533:Slc38a6	UTSW	12	73,391,626 (GRCm39)	missense	probably benign	0.11
R4171:Slc38a6	UTSW	12	73,397,326 (GRCm39)	missense	probably benign	0.21
R4579:Slc38a6	UTSW	12	73,335,298 (GRCm39)	critical splice donor site	probably null
R4864:Slc38a6	UTSW	12	73,390,424 (GRCm39)	splice site	probably null
R5162:Slc38a6	UTSW	12	73,376,759 (GRCm39)	missense	possibly damaging	0.70
R5627:Slc38a6	UTSW	12	73,390,457 (GRCm39)	missense	possibly damaging	0.59
R6189:Slc38a6	UTSW	12	73,356,970 (GRCm39)	missense	probably damaging	1.00
R6302:Slc38a6	UTSW	12	73,383,849 (GRCm39)	missense	probably damaging	1.00
R6407:Slc38a6	UTSW	12	73,356,949 (GRCm39)	missense	probably damaging	1.00
R7289:Slc38a6	UTSW	12	73,333,786 (GRCm39)	missense	probably benign
R7462:Slc38a6	UTSW	12	73,397,351 (GRCm39)	missense	probably benign	0.15
R8031:Slc38a6	UTSW	12	73,397,377 (GRCm39)	missense	probably benign	0.39
R8074:Slc38a6	UTSW	12	73,391,658 (GRCm39)	missense	possibly damaging	0.84
R9091:Slc38a6	UTSW	12	73,398,544 (GRCm39)	missense	probably benign	0.01
R9190:Slc38a6	UTSW	12	73,388,526 (GRCm39)	missense	possibly damaging	0.84
R9270:Slc38a6	UTSW	12	73,398,544 (GRCm39)	missense	probably benign	0.01
R9406:Slc38a6	UTSW	12	73,376,767 (GRCm39)	nonsense	probably null
R9587:Slc38a6	UTSW	12	73,388,513 (GRCm39)	missense	probably benign	0.18

Posted On

2015-04-16