Mutagenetix > Incidental Mutations

Incidental Mutation 'R0553:Slc38a9'

45298

Institutional Source

Beutler Lab

Gene Symbol

Slc38a9

Ensembl Gene

ENSMUSG00000047789

Gene Name

solute carrier family 38, member 9

Synonyms

MMRRC Submission

038745-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R0553 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112660751-112738749 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112714198 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 372 (H372L)

Ref Sequence

ENSEMBL: ENSMUSP00000052172 (fasta)

Gene Model

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

AlphaFold

Q8BGD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000052514
AA Change: H372L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052172
Gene: ENSMUSG00000047789
AA Change: H372L

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

Meta Mutation Damage Score

0.9415

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,682,686	I729V	probably damaging	Het
9530002B09Rik	A	T	4: 122,702,335	M120L	unknown	Het
Adamts13	T	A	2: 26,991,334	C774*	probably null	Het
Amh	A	G	10: 80,806,176		probably benign	Het
Ccdc173	C	A	2: 69,789,441	R8L	probably damaging	Het
Cd40	G	A	2: 165,070,741	R204Q	probably benign	Het
Clhc1	A	C	11: 29,561,366		probably benign	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Flg2	A	T	3: 93,203,584	H973L	unknown	Het
Fut2	T	A	7: 45,651,274	I25F	probably damaging	Het
Galnt7	T	C	8: 57,552,430		probably benign	Het
Gm438	T	A	4: 144,777,415	I389L	possibly damaging	Het
Gm7534	T	C	4: 134,202,518	T159A	possibly damaging	Het
Gm8909	G	T	17: 36,168,057	P100Q	probably damaging	Het
Gmppb	A	T	9: 108,049,797	M56L	probably benign	Het
Grm3	C	A	5: 9,570,048	A399S	probably benign	Het
Hey2	G	A	10: 30,840,489		probably benign	Het
Ift172	A	G	5: 31,275,842		probably benign	Het
Kcnh5	C	A	12: 75,137,673	C92F	probably benign	Het
Kdm1a	T	C	4: 136,555,298	D229G	probably damaging	Het
Klf11	C	G	12: 24,655,090	P164R	probably benign	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Krtcap3	T	C	5: 31,251,803	V6A	probably benign	Het
Ltbr	A	C	6: 125,313,388		probably null	Het
Mmp17	T	G	5: 129,598,670	S298A	probably benign	Het
Nacc2	T	A	2: 26,089,590	E278V	possibly damaging	Het
Olfr175-ps1	A	T	16: 58,824,155	Y185N	probably damaging	Het
Olfr875	T	A	9: 37,773,331	I224N	probably benign	Het
Otop2	C	T	11: 115,329,462	A376V	probably damaging	Het
Pdia2	T	C	17: 26,196,243	E504G	probably damaging	Het
Pdzph1	C	T	17: 58,922,727	V979M	probably damaging	Het
Pou5f1	A	G	17: 35,509,477	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,710,627	F269L	probably benign	Het
Rb1	A	T	14: 73,211,712	C659*	probably null	Het
Rnf8	T	C	17: 29,621,639		probably null	Het
Rras	T	G	7: 45,020,556	I137M	probably benign	Het
Spata9	T	C	13: 75,977,779		probably null	Het
Tas2r115	T	C	6: 132,737,959	T10A	probably benign	Het
Ttn	T	C	2: 76,798,893	E12621G	probably damaging	Het
Unc80	A	T	1: 66,506,669	I460F	probably damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,451,997	A293V	possibly damaging	Het

Other mutations in Slc38a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Slc38a9	APN	13	112701618	missense	probably damaging	1.00
IGL01950:Slc38a9	APN	13	112695253	missense	probably damaging	1.00
IGL01955:Slc38a9	APN	13	112695418	splice site	probably benign
IGL02352:Slc38a9	APN	13	112690186	missense	probably benign	0.10
IGL02359:Slc38a9	APN	13	112690186	missense	probably benign	0.10
IGL02407:Slc38a9	APN	13	112690243	missense	probably benign
IGL02511:Slc38a9	APN	13	112698007	missense	possibly damaging	0.47
IGL02588:Slc38a9	APN	13	112697977	splice site	probably null
IGL03278:Slc38a9	APN	13	112689518	splice site	probably benign
R0126:Slc38a9	UTSW	13	112729257	missense	possibly damaging	0.52
R0558:Slc38a9	UTSW	13	112729196	critical splice acceptor site	probably null
R0699:Slc38a9	UTSW	13	112723289	missense	probably damaging	1.00
R1036:Slc38a9	UTSW	13	112701659	splice site	probably benign
R1142:Slc38a9	UTSW	13	112714210	missense	probably damaging	1.00
R1344:Slc38a9	UTSW	13	112690180	missense	probably benign	0.20
R1418:Slc38a9	UTSW	13	112690180	missense	probably benign	0.20
R4223:Slc38a9	UTSW	13	112714248	critical splice donor site	probably null
R4344:Slc38a9	UTSW	13	112729215	missense	probably benign	0.02
R4824:Slc38a9	UTSW	13	112723298	missense	probably damaging	0.98
R4872:Slc38a9	UTSW	13	112689564	missense	probably damaging	1.00
R5841:Slc38a9	UTSW	13	112695322	missense	possibly damaging	0.76
R5844:Slc38a9	UTSW	13	112731501	missense	probably damaging	1.00
R6039:Slc38a9	UTSW	13	112669697	missense	probably damaging	1.00
R6039:Slc38a9	UTSW	13	112669697	missense	probably damaging	1.00
R6151:Slc38a9	UTSW	13	112689376	missense	probably damaging	1.00
R6166:Slc38a9	UTSW	13	112695267	missense	possibly damaging	0.96
R6175:Slc38a9	UTSW	13	112703559	nonsense	probably null
R6324:Slc38a9	UTSW	13	112726100	missense	probably benign	0.01
R6747:Slc38a9	UTSW	13	112690180	missense	probably benign	0.20
R6920:Slc38a9	UTSW	13	112701526	missense	possibly damaging	0.63
R7342:Slc38a9	UTSW	13	112669591	start gained	probably benign
R7592:Slc38a9	UTSW	13	112695355	missense	probably damaging	0.99
R7787:Slc38a9	UTSW	13	112689346	missense	probably damaging	0.99
R7860:Slc38a9	UTSW	13	112731614	missense	probably benign
R8742:Slc38a9	UTSW	13	112729284	missense	probably damaging	1.00
R8799:Slc38a9	UTSW	13	112703602	missense	probably damaging	1.00
R8824:Slc38a9	UTSW	13	112701487	missense	probably benign
R8846:Slc38a9	UTSW	13	112723280	nonsense	probably null
R9112:Slc38a9	UTSW	13	112714243	missense	probably damaging	0.99
R9221:Slc38a9	UTSW	13	112689376	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGACCACACAGACTGCTCACC -3'
(R):5'- TCCAGCATTATCATTTGTGCTGCTAAGT -3'

Sequencing Primer
(F):5'- ACCGTGAGGGACCTGATTAC -3'
(R):5'- acccacttgcttatttattgcc -3'

Posted On

2013-06-11