Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00514:Slc38a7'

14091

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 #

IGL00514

Quality Score

Status

Chromosome

Chromosomal Location

96562548-96580167 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 96567105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148545 (fasta)

Gene Model

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

AlphaFold

Q8BWH0

Predicted Effect

probably benign
Transcript: ENSMUST00000040481

SMART Domains

Protein: ENSMUSP00000037023
Gene: ENSMUSG00000036534

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 benign
Transcript: ENSMUST00000212270

Predicted Effect

probably benign
Transcript: ENSMUST00000212628

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
4933409G03Rik	A	G	2: 68,432,141 (GRCm39)	E75G	unknown	Het
Ank3	T	C	10: 69,818,035 (GRCm39)		probably benign	Het
Aplf	A	G	6: 87,645,390 (GRCm39)		probably benign	Het
Baz2b	A	T	2: 59,792,821 (GRCm39)	F436I	probably benign	Het
Blmh	A	G	11: 76,857,839 (GRCm39)	D327G	probably damaging	Het
Bmt2	A	T	6: 13,628,752 (GRCm39)	H310Q	probably damaging	Het
Cfap46	C	T	7: 139,240,605 (GRCm39)	S56N	probably damaging	Het
Col19a1	T	C	1: 24,576,013 (GRCm39)	K110E	unknown	Het
Cyp2c68	T	C	19: 39,700,939 (GRCm39)	D293G	probably damaging	Het
Ears2	T	A	7: 121,638,985 (GRCm39)	K480*	probably null	Het
Efhc1	C	T	1: 21,049,705 (GRCm39)	Q522*	probably null	Het
Ehd4	G	A	2: 119,921,694 (GRCm39)	P521S	probably damaging	Het
Endov	G	T	11: 119,382,291 (GRCm39)		probably benign	Het
Fgfr2	T	G	7: 129,769,441 (GRCm39)	T648P	probably benign	Het
Hsf5	A	G	11: 87,513,922 (GRCm39)	Y329C	probably damaging	Het
Kntc1	T	A	5: 123,929,590 (GRCm39)	S1308T	probably benign	Het
Mill1	A	T	7: 17,998,566 (GRCm39)	T259S	possibly damaging	Het
Ms4a4c	C	T	19: 11,396,400 (GRCm39)	A111V	probably damaging	Het
Myh1	G	T	11: 67,110,610 (GRCm39)	R1507M	probably damaging	Het
Nbeal1	G	A	1: 60,256,384 (GRCm39)	D210N	probably benign	Het
Neo1	G	T	9: 58,829,202 (GRCm39)		probably benign	Het
Nipsnap2	A	G	5: 129,831,915 (GRCm39)	D236G	probably damaging	Het
Plekhh2	G	T	17: 84,903,734 (GRCm39)		probably null	Het
Prox2	A	T	12: 85,141,552 (GRCm39)	M217K	probably benign	Het
Rgl2	G	A	17: 34,152,110 (GRCm39)	G299E	probably benign	Het
Rragb	T	G	X: 151,954,294 (GRCm39)	C370W	possibly damaging	Het
Scn9a	A	T	2: 66,393,945 (GRCm39)	N209K	probably damaging	Het
Sec61g	A	T	11: 16,451,817 (GRCm39)		probably benign	Het
Smcr8	A	T	11: 60,669,193 (GRCm39)	K114*	probably null	Het
Stag3	T	C	5: 138,298,397 (GRCm39)	L730P	probably damaging	Het
Syn3	A	G	10: 86,190,280 (GRCm39)	L183P	probably damaging	Het
Tbk1	A	T	10: 121,388,155 (GRCm39)	C637S	probably benign	Het
Tmem30c	A	T	16: 57,090,437 (GRCm39)	Y257N	probably damaging	Het
Trpm3	C	T	19: 22,965,023 (GRCm39)	T1506M	probably benign	Het
Yes1	A	C	5: 32,812,473 (GRCm39)	K248Q	probably benign	Het
Zfp638	A	T	6: 83,933,680 (GRCm39)	K811N	probably damaging	Het

Other mutations in Slc38a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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