Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02424:Slc38a7'

292844

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 #

IGL02424

Quality Score

Status

Chromosome

Chromosomal Location

96562548-96580167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96568200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 395 (V395A)

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: V395A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037023
Gene: ENSMUSG00000036534
AA Change: V395A

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: V395A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212628
AA Change: V395A

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	G	3: 137,880,466 (GRCm39)		probably benign	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abl1	G	A	2: 31,691,144 (GRCm39)	V888I	probably benign	Het
Adcy9	G	T	16: 4,106,461 (GRCm39)	N884K	probably damaging	Het
Alyref	T	C	11: 120,486,133 (GRCm39)	N176D	probably benign	Het
Amtn	T	C	5: 88,529,456 (GRCm39)		probably benign	Het
Baz1b	T	C	5: 135,246,833 (GRCm39)	Y761H	probably damaging	Het
Cckar	T	A	5: 53,863,770 (GRCm39)	T64S	possibly damaging	Het
Csmd1	A	G	8: 16,142,340 (GRCm39)	F1521S	probably benign	Het
Cyp11b1	T	C	15: 74,711,085 (GRCm39)	T198A	probably benign	Het
Def8	G	T	8: 124,186,387 (GRCm39)	L399F	possibly damaging	Het
Epha7	A	T	4: 28,948,790 (GRCm39)		probably benign	Het
Ets1	T	A	9: 32,665,589 (GRCm39)	Y181*	probably null	Het
Fas	A	T	19: 34,304,434 (GRCm39)	M232L	probably damaging	Het
Fkbp10	T	A	11: 100,306,782 (GRCm39)	V37E	probably damaging	Het
Galnt3	A	G	2: 65,926,132 (GRCm39)		probably null	Het
Gdap1	T	C	1: 17,231,402 (GRCm39)	V249A	probably damaging	Het
Gm5356	T	A	8: 89,913,594 (GRCm39)		noncoding transcript	Het
Gm7732	A	G	17: 21,349,709 (GRCm39)		noncoding transcript	Het
Gpr3	G	T	4: 132,938,405 (GRCm39)	A89E	probably damaging	Het
Kat2a	A	G	11: 100,601,973 (GRCm39)		probably null	Het
Kit	T	G	5: 75,799,766 (GRCm39)	D499E	probably benign	Het
Kmt2a	C	T	9: 44,735,932 (GRCm39)		probably benign	Het
Med12l	T	C	3: 59,000,143 (GRCm39)	L666P	probably benign	Het
Mmp2	T	G	8: 93,562,635 (GRCm39)	C291G	probably damaging	Het
Neb	A	G	2: 52,154,203 (GRCm39)	Y2303H	probably damaging	Het
Or14a259	C	A	7: 86,012,688 (GRCm39)	V286L	probably benign	Het
Or1d2	T	A	11: 74,256,299 (GRCm39)	M268K	probably benign	Het
Or1o2	T	C	17: 37,543,263 (GRCm39)		probably benign	Het
Pde1b	T	A	15: 103,436,646 (GRCm39)		probably benign	Het
Prl7a2	A	C	13: 27,851,953 (GRCm39)	C9G	probably null	Het
Rabl6	A	G	2: 25,477,469 (GRCm39)	V327A	probably benign	Het
Robo2	T	A	16: 73,770,189 (GRCm39)	I516F	possibly damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Slc35a3	G	A	3: 116,488,267 (GRCm39)	T140I	possibly damaging	Het
Stag3	T	A	5: 138,280,247 (GRCm39)	C37*	probably null	Het
Stag3	T	C	5: 138,289,628 (GRCm39)	L266P	probably damaging	Het
Strn	A	G	17: 78,991,780 (GRCm39)	S180P	probably damaging	Het
Sulf1	A	G	1: 12,867,064 (GRCm39)	T83A	probably benign	Het
Vmn1r69	T	C	7: 10,314,585 (GRCm39)	I49V	probably benign	Het
Vrk2	G	A	11: 26,426,564 (GRCm39)	P387L	probably benign	Het
Xdh	A	T	17: 74,233,565 (GRCm39)	M183K	probably benign	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
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

2015-04-16