Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03277:Slc38a7'

415464

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc38a7

Ensembl Gene

ENSMUSG00000036534

Gene Name

solute carrier family 38, member 7

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL03277

Quality Score

Status

Chromosome

Chromosomal Location

96562548-96580167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96575104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 59 (I59F)

Ref Sequence

ENSEMBL: ENSMUSP00000148545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040481] [ENSMUST00000212270] [ENSMUST00000212628]

AlphaFold

Q8BWH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040481
AA Change: I59F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037023
Gene: ENSMUSG00000036534
AA Change: I59F

Domain	Start	End	E-Value	Type
Pfam:Trp_Tyr_perm	49	334	3.4e-12	PFAM
Pfam:Aa_trans	49	457	3.1e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153835

Predicted Effect

probably damaging
Transcript: ENSMUST00000212270
AA Change: I59F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212628
AA Change: I59F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amt	A	G	9: 108,178,418 (GRCm39)	T342A	probably benign	Het
Atosa	G	A	9: 74,916,514 (GRCm39)	R371Q	probably damaging	Het
B3glct	T	C	5: 149,650,299 (GRCm39)	L134P	probably damaging	Het
Bms1	A	T	6: 118,382,083 (GRCm39)	M485K	probably benign	Het
Chd6	T	C	2: 160,824,981 (GRCm39)	N1226S	probably null	Het
Cpne2	T	C	8: 95,275,000 (GRCm39)	Y3H	probably benign	Het
Dmxl2	A	G	9: 54,311,504 (GRCm39)	V1739A	probably damaging	Het
Dnah7a	T	A	1: 53,669,481 (GRCm39)	T543S	probably benign	Het
Dock11	T	G	X: 35,277,603 (GRCm39)	V1000G	probably benign	Het
Ednrb	T	A	14: 104,080,735 (GRCm39)	N60Y	probably benign	Het
Eif3d	A	G	15: 77,843,849 (GRCm39)	M499T	possibly damaging	Het
Elmod1	G	A	9: 53,833,272 (GRCm39)	L178F	probably damaging	Het
Hrh4	T	C	18: 13,148,940 (GRCm39)	S101P	probably damaging	Het
Ift172	A	G	5: 31,424,642 (GRCm39)	V684A	possibly damaging	Het
Mtx2	A	G	2: 74,698,748 (GRCm39)	T124A	probably damaging	Het
Nat3	T	A	8: 68,000,341 (GRCm39)	H73Q	probably benign	Het
Ndst2	A	G	14: 20,780,234 (GRCm39)	L2P	possibly damaging	Het
Nipsnap3a	G	T	4: 52,997,219 (GRCm39)	A162S	probably benign	Het
Or2a57	T	G	6: 43,212,876 (GRCm39)	C111W	probably damaging	Het
Or5m5	T	C	2: 85,814,517 (GRCm39)	I111T	probably damaging	Het
Peg3	T	C	7: 6,714,673 (GRCm39)	D183G	probably damaging	Het
Prlr	A	G	15: 10,328,887 (GRCm39)	E454G	probably benign	Het
Prom1	G	A	5: 44,190,313 (GRCm39)	Q364*	probably null	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Sema5b	A	G	16: 35,471,682 (GRCm39)	D425G	probably damaging	Het
Slc16a7	A	T	10: 125,066,560 (GRCm39)	C360S	probably benign	Het
Slc5a6	A	G	5: 31,195,372 (GRCm39)	C449R	possibly damaging	Het
Slc9b1	T	C	3: 135,096,269 (GRCm39)	Y357H	possibly damaging	Het
Snx17	A	T	5: 31,353,084 (GRCm39)		probably benign	Het
Stk32b	A	C	5: 37,786,320 (GRCm39)	M48R	probably damaging	Het
Tspan9	A	G	6: 127,944,038 (GRCm39)		probably null	Het
Tst	A	T	15: 78,289,521 (GRCm39)	N171K	probably damaging	Het
Vmn1r180	T	A	7: 23,652,710 (GRCm39)	I291N	probably damaging	Het
Vmn2r32	T	A	7: 7,477,251 (GRCm39)	D380V	probably benign	Het
Wdfy4	T	C	14: 32,790,861 (GRCm39)	T2189A	probably benign	Het
Zbtb20	A	G	16: 43,438,800 (GRCm39)	N640S	possibly damaging	Het
Zfp142	A	G	1: 74,610,193 (GRCm39)	S1098P	probably damaging	Het

Other mutations in Slc38a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Slc38a7	APN	8	96,567,105 (GRCm39)	unclassified	probably benign
IGL00816:Slc38a7	APN	8	96,570,748 (GRCm39)	missense	probably damaging	1.00
IGL01781:Slc38a7	APN	8	96,570,386 (GRCm39)	critical splice donor site	probably null
IGL01990:Slc38a7	APN	8	96,571,590 (GRCm39)	nonsense	probably null
IGL02424:Slc38a7	APN	8	96,568,200 (GRCm39)	missense	probably damaging	1.00
IGL02932:Slc38a7	APN	8	96,572,783 (GRCm39)	missense	probably damaging	1.00
R0082:Slc38a7	UTSW	8	96,567,109 (GRCm39)	unclassified	probably benign
R0271:Slc38a7	UTSW	8	96,572,506 (GRCm39)	missense	probably damaging	0.98
R1479:Slc38a7	UTSW	8	96,575,122 (GRCm39)	missense	probably benign
R2246:Slc38a7	UTSW	8	96,570,468 (GRCm39)	missense	probably damaging	0.97
R2897:Slc38a7	UTSW	8	96,572,424 (GRCm39)	splice site	probably benign
R2920:Slc38a7	UTSW	8	96,572,571 (GRCm39)	missense	possibly damaging	0.85
R3746:Slc38a7	UTSW	8	96,570,380 (GRCm39)	splice site	probably benign
R3884:Slc38a7	UTSW	8	96,572,809 (GRCm39)	missense	probably damaging	1.00
R4885:Slc38a7	UTSW	8	96,575,230 (GRCm39)	missense	probably benign
R5073:Slc38a7	UTSW	8	96,568,278 (GRCm39)	missense	probably damaging	1.00
R6249:Slc38a7	UTSW	8	96,564,302 (GRCm39)	splice site	probably null
R6379:Slc38a7	UTSW	8	96,575,155 (GRCm39)	missense	probably benign
R6821:Slc38a7	UTSW	8	96,571,548 (GRCm39)	missense	probably benign	0.25
R7735:Slc38a7	UTSW	8	96,568,295 (GRCm39)	missense	probably benign	0.00
R9668:Slc38a7	UTSW	8	96,570,772 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02