Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00816:Slc38a7'

14092

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: 0.234) question?

Stock #

IGL00816

Quality Score

Status

Chromosome

Chromosomal Location

96562548-96580167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96570748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 252 (I252N)

Ref Sequence

ENSEMBL: ENSMUSP00000148659 (fasta)

Gene Model

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

AlphaFold

Q8BWH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040481
AA Change: I252N

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

SMART Domains

Protein: ENSMUSP00000037023
Gene: ENSMUSG00000036534
AA Change: I252N

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: ENSMUST00000142881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153835

Predicted Effect

probably damaging
Transcript: ENSMUST00000212270
AA Change: I252N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212628
AA Change: I252N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,545,322 (GRCm39)	D5654E	probably benign	Het
Alg6	A	G	4: 99,630,598 (GRCm39)	S146G	probably null	Het
Anks1	T	C	17: 28,278,367 (GRCm39)		probably null	Het
Bcor	T	C	X: 11,904,059 (GRCm39)	I1662V	probably damaging	Het
Bzw1	T	C	1: 58,438,213 (GRCm39)	F98L	probably damaging	Het
Cdc14b	A	G	13: 64,353,217 (GRCm39)	V453A	probably benign	Het
Copg1	G	T	6: 87,870,880 (GRCm39)	A228S	possibly damaging	Het
D1Pas1	A	G	1: 186,701,609 (GRCm39)	I513V	possibly damaging	Het
Efemp1	G	A	11: 28,876,223 (GRCm39)	V463M	probably benign	Het
Ep400	T	A	5: 110,883,356 (GRCm39)		probably benign	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Fgd3	A	G	13: 49,418,262 (GRCm39)		probably benign	Het
Furin	C	A	7: 80,042,315 (GRCm39)	G427W	probably damaging	Het
Glycam1	T	G	15: 103,472,659 (GRCm39)	D25A	probably damaging	Het
Gpr119	A	G	X: 47,763,047 (GRCm39)	L30P	probably damaging	Het
Gria1	T	A	11: 57,208,568 (GRCm39)	M752K	possibly damaging	Het
Mcph1	C	T	8: 18,682,413 (GRCm39)	P517S	possibly damaging	Het
Mug1	T	A	6: 121,859,597 (GRCm39)	Y1199N	probably damaging	Het
Myt1	A	G	2: 181,449,308 (GRCm39)	D663G	probably damaging	Het
Ppp1r1c	A	T	2: 79,540,241 (GRCm39)		probably null	Het
Rab1a	C	T	11: 20,174,727 (GRCm39)	T100M	possibly damaging	Het
Rfx6	A	G	10: 51,554,501 (GRCm39)	K114R	probably benign	Het
Rmdn1	T	C	4: 19,595,119 (GRCm39)	V177A	probably benign	Het
Setd5	T	G	6: 113,088,375 (GRCm39)	L168V	probably damaging	Het
Slc25a10	A	T	11: 120,385,976 (GRCm39)		probably benign	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Taar8c	A	T	10: 23,977,173 (GRCm39)	I213N	probably damaging	Het
Tagln3	A	T	16: 45,544,556 (GRCm39)	C38*	probably null	Het
Tmcc2	C	A	1: 132,308,436 (GRCm39)	A153S	probably benign	Het
Tuft1	A	T	3: 94,523,138 (GRCm39)	I291N	probably damaging	Het
Vmn2r10	T	A	5: 109,150,451 (GRCm39)	M198L	possibly damaging	Het
Vps13d	T	A	4: 144,882,564 (GRCm39)	M1004L	probably benign	Het
Wfdc3	T	C	2: 164,584,945 (GRCm39)		probably benign	Het
Wfikkn2	G	A	11: 94,128,921 (GRCm39)	Q407*	probably null	Het
Zfp106	T	C	2: 120,357,329 (GRCm39)	I1189V	probably benign	Het
Zic2	T	A	14: 122,715,971 (GRCm39)	C364*	probably null	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
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
IGL03277:Slc38a7	APN	8	96,575,104 (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

2012-12-06