Incidental Mutation 'IGL02643:Slc1a7'
ID |
301830 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc1a7
|
Ensembl Gene |
ENSMUSG00000008932 |
Gene Name |
solute carrier family 1 (glutamate transporter), member 7 |
Synonyms |
EAAT5, A930031E15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL02643
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
107825603-107870726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 107869497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 521
(V521M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102324
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044248]
[ENSMUST00000106708]
[ENSMUST00000106709]
[ENSMUST00000106713]
[ENSMUST00000146851]
|
AlphaFold |
Q8JZR4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044248
|
SMART Domains |
Protein: ENSMUSP00000048962 Gene: ENSMUSG00000028600
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
40 |
49 |
N/A |
INTRINSIC |
LRRNT
|
68 |
101 |
4.34e-5 |
SMART |
LRR_TYP
|
120 |
145 |
2.05e-2 |
SMART |
LRR
|
146 |
169 |
1.19e1 |
SMART |
LRR
|
192 |
216 |
2.84e1 |
SMART |
LRR
|
239 |
261 |
6.22e0 |
SMART |
LRR
|
262 |
287 |
3.47e0 |
SMART |
LRR_TYP
|
288 |
311 |
7.9e-4 |
SMART |
LRR
|
333 |
358 |
1.26e1 |
SMART |
LRR
|
359 |
382 |
2.82e0 |
SMART |
LRR
|
407 |
429 |
1.53e2 |
SMART |
LRR_TYP
|
430 |
453 |
7.37e-4 |
SMART |
LRR
|
475 |
500 |
1.66e1 |
SMART |
LRR
|
501 |
522 |
1.29e1 |
SMART |
LRR_TYP
|
523 |
545 |
7.67e-2 |
SMART |
low complexity region
|
594 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106708
|
SMART Domains |
Protein: ENSMUSP00000102319 Gene: ENSMUSG00000028600
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
40 |
49 |
N/A |
INTRINSIC |
LRRNT
|
68 |
101 |
4.34e-5 |
SMART |
LRR_TYP
|
120 |
145 |
2.05e-2 |
SMART |
LRR
|
146 |
169 |
1.19e1 |
SMART |
LRR
|
192 |
216 |
2.84e1 |
SMART |
LRR
|
239 |
261 |
6.22e0 |
SMART |
LRR
|
262 |
287 |
3.47e0 |
SMART |
LRR_TYP
|
288 |
311 |
7.9e-4 |
SMART |
LRR
|
333 |
358 |
1.26e1 |
SMART |
LRR
|
359 |
382 |
2.82e0 |
SMART |
LRR
|
407 |
429 |
1.53e2 |
SMART |
LRR_TYP
|
430 |
453 |
7.37e-4 |
SMART |
LRR
|
475 |
500 |
1.66e1 |
SMART |
LRR
|
501 |
522 |
1.29e1 |
SMART |
LRR_TYP
|
523 |
545 |
7.67e-2 |
SMART |
low complexity region
|
594 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106709
|
SMART Domains |
Protein: ENSMUSP00000102320 Gene: ENSMUSG00000028600
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
40 |
49 |
N/A |
INTRINSIC |
LRRNT
|
68 |
101 |
4.34e-5 |
SMART |
LRR_TYP
|
120 |
145 |
2.05e-2 |
SMART |
LRR
|
146 |
169 |
1.19e1 |
SMART |
LRR
|
192 |
216 |
2.84e1 |
SMART |
LRR
|
239 |
261 |
6.22e0 |
SMART |
LRR
|
262 |
287 |
3.47e0 |
SMART |
LRR_TYP
|
288 |
311 |
7.9e-4 |
SMART |
LRR
|
333 |
358 |
1.26e1 |
SMART |
LRR
|
359 |
382 |
2.82e0 |
SMART |
LRR
|
407 |
429 |
1.53e2 |
SMART |
LRR_TYP
|
430 |
453 |
7.37e-4 |
SMART |
LRR
|
475 |
500 |
1.66e1 |
SMART |
LRR
|
501 |
522 |
1.29e1 |
SMART |
LRR_TYP
|
523 |
545 |
7.67e-2 |
SMART |
low complexity region
|
594 |
609 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106713
AA Change: V521M
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102324 Gene: ENSMUSG00000008932 AA Change: V521M
Domain | Start | End | E-Value | Type |
Pfam:SDF
|
29 |
485 |
1.9e-127 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124190
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145491
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146851
|
SMART Domains |
Protein: ENSMUSP00000121478 Gene: ENSMUSG00000028600
Domain | Start | End | E-Value | Type |
LRR
|
1 |
24 |
1.19e1 |
SMART |
LRR
|
47 |
71 |
2.84e1 |
SMART |
LRR
|
94 |
116 |
6.22e0 |
SMART |
LRR
|
117 |
142 |
3.47e0 |
SMART |
LRR_TYP
|
143 |
166 |
7.9e-4 |
SMART |
LRR
|
188 |
213 |
1.26e1 |
SMART |
LRR
|
214 |
237 |
2.82e0 |
SMART |
LRR
|
262 |
284 |
1.53e2 |
SMART |
LRR_TYP
|
285 |
308 |
7.37e-4 |
SMART |
low complexity region
|
319 |
334 |
N/A |
INTRINSIC |
low complexity region
|
359 |
364 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
G |
5: 121,769,633 (GRCm39) |
M608L |
probably benign |
Het |
Adamts2 |
A |
T |
11: 50,679,527 (GRCm39) |
M836L |
probably benign |
Het |
Ankrd11 |
A |
T |
8: 123,619,061 (GRCm39) |
M1597K |
probably damaging |
Het |
Arhgef17 |
A |
T |
7: 100,533,089 (GRCm39) |
F1145L |
possibly damaging |
Het |
Atp13a3 |
A |
T |
16: 30,152,614 (GRCm39) |
W32R |
probably null |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Bod1l |
T |
A |
5: 41,976,148 (GRCm39) |
E1722V |
possibly damaging |
Het |
Ceacam16 |
A |
G |
7: 19,595,086 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,284,258 (GRCm39) |
Y840N |
unknown |
Het |
Dlg5 |
A |
G |
14: 24,241,250 (GRCm39) |
C132R |
probably damaging |
Het |
Dock4 |
T |
A |
12: 40,718,429 (GRCm39) |
N242K |
probably damaging |
Het |
Dsg3 |
G |
A |
18: 20,662,012 (GRCm39) |
V426I |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,625,706 (GRCm39) |
|
probably benign |
Het |
Flvcr2 |
T |
A |
12: 85,842,997 (GRCm39) |
M357K |
possibly damaging |
Het |
Gapvd1 |
A |
G |
2: 34,594,192 (GRCm39) |
S932P |
probably damaging |
Het |
Gata4 |
T |
A |
14: 63,442,204 (GRCm39) |
D205V |
possibly damaging |
Het |
Kcnk2 |
T |
A |
1: 188,990,976 (GRCm39) |
I195L |
possibly damaging |
Het |
Krt1 |
T |
C |
15: 101,755,479 (GRCm39) |
I427V |
probably benign |
Het |
Mapk1ip1l |
T |
A |
14: 47,548,339 (GRCm39) |
H162Q |
possibly damaging |
Het |
Micu1 |
A |
G |
10: 59,675,558 (GRCm39) |
D380G |
probably damaging |
Het |
Mknk2 |
A |
C |
10: 80,504,435 (GRCm39) |
L289R |
probably damaging |
Het |
Mtcl2 |
A |
G |
2: 156,882,663 (GRCm39) |
V463A |
probably damaging |
Het |
Myo18a |
A |
T |
11: 77,668,998 (GRCm39) |
N286I |
possibly damaging |
Het |
Or5ae2 |
A |
T |
7: 84,506,239 (GRCm39) |
I221F |
probably damaging |
Het |
Pdp1 |
C |
T |
4: 11,962,062 (GRCm39) |
R83H |
probably benign |
Het |
Ptafr |
A |
C |
4: 132,307,437 (GRCm39) |
I276L |
probably benign |
Het |
Rab3gap2 |
A |
T |
1: 184,999,197 (GRCm39) |
D968V |
possibly damaging |
Het |
Rplp1rt |
T |
C |
19: 12,824,300 (GRCm39) |
|
noncoding transcript |
Het |
Samd8 |
T |
A |
14: 21,843,212 (GRCm39) |
M447K |
probably damaging |
Het |
Six5 |
G |
T |
7: 18,831,455 (GRCm39) |
V649L |
probably benign |
Het |
Slc1a2 |
T |
A |
2: 102,570,225 (GRCm39) |
F168I |
probably benign |
Het |
Sorbs1 |
T |
C |
19: 40,353,577 (GRCm39) |
D206G |
possibly damaging |
Het |
Stim2 |
T |
C |
5: 54,267,955 (GRCm39) |
V417A |
probably damaging |
Het |
Tbx20 |
A |
G |
9: 24,685,009 (GRCm39) |
|
probably benign |
Het |
Tia1 |
A |
G |
6: 86,393,372 (GRCm39) |
I71V |
probably benign |
Het |
Ttc7 |
T |
C |
17: 87,648,327 (GRCm39) |
S509P |
possibly damaging |
Het |
Ttpal |
A |
G |
2: 163,449,140 (GRCm39) |
|
probably benign |
Het |
Tubgcp2 |
A |
T |
7: 139,576,067 (GRCm39) |
N865K |
probably damaging |
Het |
Wdr45 |
G |
T |
X: 7,593,288 (GRCm39) |
E62* |
probably null |
Het |
Zfp507 |
A |
G |
7: 35,494,656 (GRCm39) |
F129S |
probably damaging |
Het |
Zfp518b |
T |
A |
5: 38,831,498 (GRCm39) |
H169L |
probably damaging |
Het |
|
Other mutations in Slc1a7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01377:Slc1a7
|
APN |
4 |
107,850,162 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03146:Slc1a7
|
APN |
4 |
107,850,189 (GRCm39) |
missense |
probably damaging |
0.98 |
R1023:Slc1a7
|
UTSW |
4 |
107,864,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R1629:Slc1a7
|
UTSW |
4 |
107,865,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R1869:Slc1a7
|
UTSW |
4 |
107,865,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Slc1a7
|
UTSW |
4 |
107,825,782 (GRCm39) |
missense |
probably benign |
0.05 |
R1970:Slc1a7
|
UTSW |
4 |
107,825,782 (GRCm39) |
missense |
probably benign |
0.05 |
R1971:Slc1a7
|
UTSW |
4 |
107,825,782 (GRCm39) |
missense |
probably benign |
0.05 |
R2058:Slc1a7
|
UTSW |
4 |
107,861,636 (GRCm39) |
missense |
probably benign |
0.41 |
R2201:Slc1a7
|
UTSW |
4 |
107,850,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R2212:Slc1a7
|
UTSW |
4 |
107,868,191 (GRCm39) |
missense |
probably benign |
0.02 |
R3412:Slc1a7
|
UTSW |
4 |
107,868,191 (GRCm39) |
missense |
probably benign |
0.02 |
R3413:Slc1a7
|
UTSW |
4 |
107,868,191 (GRCm39) |
missense |
probably benign |
0.02 |
R3414:Slc1a7
|
UTSW |
4 |
107,868,191 (GRCm39) |
missense |
probably benign |
0.02 |
R3734:Slc1a7
|
UTSW |
4 |
107,834,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R4109:Slc1a7
|
UTSW |
4 |
107,825,858 (GRCm39) |
missense |
probably benign |
0.22 |
R4662:Slc1a7
|
UTSW |
4 |
107,864,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R4676:Slc1a7
|
UTSW |
4 |
107,834,871 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4801:Slc1a7
|
UTSW |
4 |
107,850,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Slc1a7
|
UTSW |
4 |
107,850,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R4935:Slc1a7
|
UTSW |
4 |
107,864,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R5896:Slc1a7
|
UTSW |
4 |
107,869,587 (GRCm39) |
missense |
probably benign |
0.02 |
R5947:Slc1a7
|
UTSW |
4 |
107,867,497 (GRCm39) |
unclassified |
probably benign |
|
R6056:Slc1a7
|
UTSW |
4 |
107,869,458 (GRCm39) |
missense |
probably benign |
0.00 |
R6088:Slc1a7
|
UTSW |
4 |
107,869,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R6134:Slc1a7
|
UTSW |
4 |
107,869,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R6141:Slc1a7
|
UTSW |
4 |
107,859,379 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7378:Slc1a7
|
UTSW |
4 |
107,859,400 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7587:Slc1a7
|
UTSW |
4 |
107,867,683 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7974:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R7975:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8002:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8003:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8022:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8023:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8075:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8142:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8145:Slc1a7
|
UTSW |
4 |
107,869,473 (GRCm39) |
missense |
probably benign |
0.00 |
R8205:Slc1a7
|
UTSW |
4 |
107,865,508 (GRCm39) |
missense |
probably benign |
0.12 |
R8257:Slc1a7
|
UTSW |
4 |
107,865,394 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9339:Slc1a7
|
UTSW |
4 |
107,850,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |