Mutagenetix > Incidental Mutation

Incidental Mutation 'R1142:Slc38a9'

102171

Institutional Source

Beutler Lab

Gene Symbol

Slc38a9

Ensembl Gene

ENSMUSG00000047789

Gene Name

solute carrier family 38, member 9

Synonyms

9430067K09Rik, 9130023D20Rik, 4833412L08Rik, 6720411P22Rik

MMRRC Submission

039215-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R1142 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112797285-112875283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112850744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 376 (I376T)

Ref Sequence

ENSEMBL: ENSMUSP00000052172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052514]

AlphaFold

Q8BGD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000052514
AA Change: I376T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052172
Gene: ENSMUSG00000047789
AA Change: I376T

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	114	253	4.5e-17	PFAM
Pfam:Aa_trans	266	560	2.5e-16	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	A	G	19: 40,539,657 (GRCm39)	S773P	probably damaging	Het
Alx3	T	C	3: 107,507,980 (GRCm39)	F163S	possibly damaging	Het
Apobr	A	G	7: 126,186,654 (GRCm39)	M722V	probably benign	Het
Col6a5	A	G	9: 105,811,516 (GRCm39)	S668P	unknown	Het
Cxadr	A	G	16: 78,131,727 (GRCm39)	T238A	probably benign	Het
Dph6	A	G	2: 114,478,260 (GRCm39)	I27T	probably damaging	Het
Ephx3	G	A	17: 32,404,248 (GRCm39)	H324Y	probably benign	Het
F830045P16Rik	T	A	2: 129,302,252 (GRCm39)	K447*	probably null	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Hsp90ab1	C	A	17: 45,879,900 (GRCm39)	E539*	probably null	Het
Jmjd1c	T	C	10: 67,061,124 (GRCm39)	L1159P	probably damaging	Het
Lamc3	T	C	2: 31,830,733 (GRCm39)	I1490T	probably damaging	Het
Met	T	A	6: 17,527,182 (GRCm39)	C544*	probably null	Het
Pdlim3	C	A	8: 46,371,998 (GRCm39)	R348S	probably damaging	Het
Phkg1	A	G	5: 129,902,073 (GRCm39)	F101L	possibly damaging	Het
Polq	A	G	16: 36,833,579 (GRCm39)	M91V	probably damaging	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Vmn1r85	T	C	7: 12,818,481 (GRCm39)	N221S	probably benign	Het
Vmn2r91	T	A	17: 18,356,705 (GRCm39)	W791R	probably damaging	Het
Zc3h13	T	C	14: 75,553,424 (GRCm39)	Y284H	probably benign	Het

Other mutations in Slc38a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Slc38a9	APN	13	112,838,152 (GRCm39)	missense	probably damaging	1.00
IGL01950:Slc38a9	APN	13	112,831,787 (GRCm39)	missense	probably damaging	1.00
IGL01955:Slc38a9	APN	13	112,831,952 (GRCm39)	splice site	probably benign
IGL02352:Slc38a9	APN	13	112,826,720 (GRCm39)	missense	probably benign	0.10
IGL02359:Slc38a9	APN	13	112,826,720 (GRCm39)	missense	probably benign	0.10
IGL02407:Slc38a9	APN	13	112,826,777 (GRCm39)	missense	probably benign
IGL02511:Slc38a9	APN	13	112,834,541 (GRCm39)	missense	possibly damaging	0.47
IGL02588:Slc38a9	APN	13	112,834,511 (GRCm39)	splice site	probably null
IGL03278:Slc38a9	APN	13	112,826,052 (GRCm39)	splice site	probably benign
R0126:Slc38a9	UTSW	13	112,865,791 (GRCm39)	missense	possibly damaging	0.52
R0553:Slc38a9	UTSW	13	112,850,732 (GRCm39)	missense	probably damaging	1.00
R0558:Slc38a9	UTSW	13	112,865,730 (GRCm39)	critical splice acceptor site	probably null
R0699:Slc38a9	UTSW	13	112,859,823 (GRCm39)	missense	probably damaging	1.00
R1036:Slc38a9	UTSW	13	112,838,193 (GRCm39)	splice site	probably benign
R1344:Slc38a9	UTSW	13	112,826,714 (GRCm39)	missense	probably benign	0.20
R1418:Slc38a9	UTSW	13	112,826,714 (GRCm39)	missense	probably benign	0.20
R4223:Slc38a9	UTSW	13	112,850,782 (GRCm39)	critical splice donor site	probably null
R4344:Slc38a9	UTSW	13	112,865,749 (GRCm39)	missense	probably benign	0.02
R4824:Slc38a9	UTSW	13	112,859,832 (GRCm39)	missense	probably damaging	0.98
R4872:Slc38a9	UTSW	13	112,826,098 (GRCm39)	missense	probably damaging	1.00
R5841:Slc38a9	UTSW	13	112,831,856 (GRCm39)	missense	possibly damaging	0.76
R5844:Slc38a9	UTSW	13	112,868,035 (GRCm39)	missense	probably damaging	1.00
R6039:Slc38a9	UTSW	13	112,806,231 (GRCm39)	missense	probably damaging	1.00
R6039:Slc38a9	UTSW	13	112,806,231 (GRCm39)	missense	probably damaging	1.00
R6151:Slc38a9	UTSW	13	112,825,910 (GRCm39)	missense	probably damaging	1.00
R6166:Slc38a9	UTSW	13	112,831,801 (GRCm39)	missense	possibly damaging	0.96
R6175:Slc38a9	UTSW	13	112,840,093 (GRCm39)	nonsense	probably null
R6324:Slc38a9	UTSW	13	112,862,634 (GRCm39)	missense	probably benign	0.01
R6747:Slc38a9	UTSW	13	112,826,714 (GRCm39)	missense	probably benign	0.20
R6920:Slc38a9	UTSW	13	112,838,060 (GRCm39)	missense	possibly damaging	0.63
R7342:Slc38a9	UTSW	13	112,806,125 (GRCm39)	start gained	probably benign
R7592:Slc38a9	UTSW	13	112,831,889 (GRCm39)	missense	probably damaging	0.99
R7787:Slc38a9	UTSW	13	112,825,880 (GRCm39)	missense	probably damaging	0.99
R7860:Slc38a9	UTSW	13	112,868,148 (GRCm39)	missense	probably benign
R8742:Slc38a9	UTSW	13	112,865,818 (GRCm39)	missense	probably damaging	1.00
R8799:Slc38a9	UTSW	13	112,840,136 (GRCm39)	missense	probably damaging	1.00
R8824:Slc38a9	UTSW	13	112,838,021 (GRCm39)	missense	probably benign
R8846:Slc38a9	UTSW	13	112,859,814 (GRCm39)	nonsense	probably null
R9112:Slc38a9	UTSW	13	112,850,777 (GRCm39)	missense	probably damaging	0.99
R9221:Slc38a9	UTSW	13	112,825,910 (GRCm39)	missense	probably damaging	1.00
R9780:Slc38a9	UTSW	13	112,862,591 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

Posted On

2014-01-15