Incidental Mutation 'R3884:Slc38a7'
ID |
310591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc38a7
|
Ensembl Gene |
ENSMUSG00000036534 |
Gene Name |
solute carrier family 38, member 7 |
Synonyms |
|
MMRRC Submission |
040797-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.234)
|
Stock # |
R3884 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
96562548-96580167 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 96572809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 141
(G141R)
|
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: G141R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037023 Gene: ENSMUSG00000036534 AA Change: G141R
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: G141R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212628
AA Change: G141R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy6 |
G |
A |
15: 98,495,055 (GRCm39) |
S719F |
probably benign |
Het |
Als2 |
A |
G |
1: 59,224,727 (GRCm39) |
V998A |
probably damaging |
Het |
Ankmy1 |
T |
G |
1: 92,813,874 (GRCm39) |
E435A |
probably damaging |
Het |
Ankrd52 |
A |
G |
10: 128,224,824 (GRCm39) |
E820G |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp6v0d2 |
T |
A |
4: 19,910,677 (GRCm39) |
D71V |
probably damaging |
Het |
C3 |
T |
C |
17: 57,524,173 (GRCm39) |
|
probably null |
Het |
Cnot7 |
A |
T |
8: 40,963,171 (GRCm39) |
M1K |
probably null |
Het |
Cntn2 |
A |
G |
1: 132,456,677 (GRCm39) |
V123A |
probably damaging |
Het |
Depdc5 |
G |
A |
5: 33,101,421 (GRCm39) |
E904K |
probably damaging |
Het |
Dip2c |
G |
T |
13: 9,601,894 (GRCm39) |
L284F |
probably damaging |
Het |
Epb41l3 |
C |
T |
17: 69,581,111 (GRCm39) |
R552* |
probably null |
Het |
Gabra4 |
T |
C |
5: 71,814,600 (GRCm39) |
D40G |
probably benign |
Het |
Gm9925 |
T |
C |
18: 74,198,399 (GRCm39) |
|
probably benign |
Het |
Igf2r |
T |
A |
17: 12,928,355 (GRCm39) |
Q996L |
probably benign |
Het |
Klk1b16 |
T |
C |
7: 43,788,887 (GRCm39) |
V40A |
possibly damaging |
Het |
Lin9 |
G |
T |
1: 180,515,630 (GRCm39) |
G427* |
probably null |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Lyg2 |
C |
G |
1: 37,949,150 (GRCm39) |
A71P |
probably damaging |
Het |
Mycbp2 |
A |
C |
14: 103,532,686 (GRCm39) |
L390V |
probably damaging |
Het |
Myl3 |
A |
G |
9: 110,597,027 (GRCm39) |
H129R |
probably damaging |
Het |
Naa16 |
T |
C |
14: 79,580,702 (GRCm39) |
K604R |
probably damaging |
Het |
Nedd4 |
C |
T |
9: 72,632,359 (GRCm39) |
P398S |
probably benign |
Het |
Neurl1a |
T |
C |
19: 47,241,885 (GRCm39) |
V309A |
probably benign |
Het |
Or10a2 |
A |
T |
7: 106,673,110 (GRCm39) |
Q25L |
possibly damaging |
Het |
Or6c210 |
T |
C |
10: 129,496,407 (GRCm39) |
V244A |
probably damaging |
Het |
Pacs1 |
T |
C |
19: 5,205,787 (GRCm39) |
Y301C |
probably damaging |
Het |
Parl |
A |
T |
16: 20,101,762 (GRCm39) |
M90K |
probably damaging |
Het |
Plxnc1 |
A |
T |
10: 94,746,549 (GRCm39) |
|
probably null |
Het |
Prkd2 |
C |
A |
7: 16,587,180 (GRCm39) |
S375R |
probably benign |
Het |
Prss44 |
T |
C |
9: 110,643,764 (GRCm39) |
I136T |
possibly damaging |
Het |
Rock1 |
G |
A |
18: 10,122,768 (GRCm39) |
T351I |
probably damaging |
Het |
Selenon |
T |
C |
4: 134,267,081 (GRCm39) |
N507S |
possibly damaging |
Het |
Trpm4 |
C |
T |
7: 44,971,422 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,560,705 (GRCm39) |
N27486I |
probably damaging |
Het |
Xylb |
T |
C |
9: 119,209,753 (GRCm39) |
M346T |
probably damaging |
Het |
Zbtb17 |
T |
C |
4: 141,191,886 (GRCm39) |
F306L |
probably 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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTCCTTCCATGTCAACAG -3'
(R):5'- TGCCAGCAAGGAGTTTACCATG -3'
Sequencing Primer
(F):5'- TTCCATGTCAACAGGTCCTAAG -3'
(R):5'- GCAAGGAGTTTACCATGCCTTTC -3'
|
Posted On |
2015-04-17 |