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: 0.240)
|
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 |