Incidental Mutation 'IGL01990:Slc38a7'
| ID |
182029 |
| 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)
|
| Stock # |
IGL01990
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
96562548-96580167 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 96571590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 213
(W213*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040481]
[ENSMUST00000212270]
[ENSMUST00000212628]
|
| AlphaFold |
Q8BWH0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040481
AA Change: W213*
|
| SMART Domains |
Protein: ENSMUSP00000037023
Gene: ENSMUSG00000036534
AA Change: W213*
| 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 null
Transcript: ENSMUST00000212270
AA Change: W213*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212628
AA Change: W213*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
G |
17: 33,653,068 (GRCm39) |
N376S |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,705,115 (GRCm39) |
D1565G |
probably damaging |
Het |
| Atf5 |
T |
G |
7: 44,462,473 (GRCm39) |
D217A |
probably damaging |
Het |
| Azgp1 |
T |
C |
5: 137,987,997 (GRCm39) |
W260R |
probably damaging |
Het |
| Cnr2 |
C |
T |
4: 135,644,116 (GRCm39) |
R65C |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,226,859 (GRCm39) |
Y203C |
unknown |
Het |
| Colec11 |
A |
G |
12: 28,644,985 (GRCm39) |
Y170H |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,650,867 (GRCm39) |
Q471R |
possibly damaging |
Het |
| Gal3st1 |
G |
T |
11: 3,948,741 (GRCm39) |
W316L |
probably damaging |
Het |
| Igfbp3 |
C |
A |
11: 7,158,504 (GRCm39) |
R253L |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,383,178 (GRCm39) |
D168V |
probably benign |
Het |
| Khnyn |
T |
G |
14: 56,125,045 (GRCm39) |
I433S |
possibly damaging |
Het |
| Naaa |
T |
A |
5: 92,415,922 (GRCm39) |
T193S |
possibly damaging |
Het |
| Nsun7 |
G |
A |
5: 66,418,416 (GRCm39) |
D49N |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,074,924 (GRCm39) |
|
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,633,107 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,387,438 (GRCm39) |
T1794I |
probably damaging |
Het |
| Prex2 |
A |
C |
1: 11,193,457 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
T |
G |
4: 150,239,141 (GRCm39) |
I122S |
possibly damaging |
Het |
| Slc31a2 |
A |
G |
4: 62,214,207 (GRCm39) |
K53E |
probably benign |
Het |
| Slc35f4 |
C |
T |
14: 49,541,626 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,896,188 (GRCm39) |
E589G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,101,707 (GRCm39) |
N5407S |
probably damaging |
Het |
| Tgm2 |
A |
T |
2: 157,966,051 (GRCm39) |
D534E |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,324 (GRCm39) |
Y161C |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,529,355 (GRCm39) |
M249T |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,203 (GRCm39) |
I240V |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,096,666 (GRCm39) |
L49P |
probably damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,311,047 (GRCm39) |
P549H |
probably damaging |
Het |
| Zfp551 |
C |
T |
7: 12,156,343 (GRCm39) |
V25M |
possibly 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 |
|
|
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 |
2014-05-07 |
Incidental Mutation