Incidental Mutation 'R3413:Slc1a7'
ID |
267795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc1a7
|
Ensembl Gene |
ENSMUSG00000008932 |
Gene Name |
solute carrier family 1 (glutamate transporter), member 7 |
Synonyms |
EAAT5, A930031E15Rik |
MMRRC Submission |
040631-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R3413 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
107825603-107870726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107868191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 497
(E497G)
|
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 |
probably benign
Transcript: ENSMUST00000106713
AA Change: E497G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000102324 Gene: ENSMUSG00000008932 AA Change: E497G
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 |
|
Meta Mutation Damage Score |
0.0758 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd13 |
T |
C |
8: 10,037,387 (GRCm39) |
|
probably benign |
Het |
Ap2a2 |
T |
A |
7: 141,178,689 (GRCm39) |
N105K |
probably benign |
Het |
Axin1 |
A |
G |
17: 26,407,012 (GRCm39) |
H535R |
probably damaging |
Het |
Ccnb3 |
T |
A |
X: 6,874,040 (GRCm39) |
E846D |
probably benign |
Het |
Cdca7 |
G |
A |
2: 72,315,631 (GRCm39) |
G365R |
probably damaging |
Het |
Clvs2 |
T |
A |
10: 33,498,967 (GRCm39) |
|
probably benign |
Het |
Coq10a |
A |
G |
10: 128,200,998 (GRCm39) |
V93A |
possibly damaging |
Het |
Ddx42 |
A |
G |
11: 106,138,636 (GRCm39) |
T812A |
probably benign |
Het |
Dnaaf6 |
T |
A |
X: 139,006,770 (GRCm39) |
N216K |
possibly damaging |
Het |
Eya1 |
T |
A |
1: 14,344,433 (GRCm39) |
|
probably null |
Het |
Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
Gckr |
T |
A |
5: 31,458,211 (GRCm39) |
|
probably null |
Het |
Golgb1 |
A |
G |
16: 36,707,709 (GRCm39) |
K68E |
probably damaging |
Het |
Got1l1 |
A |
G |
8: 27,689,864 (GRCm39) |
|
probably null |
Het |
Hip1 |
T |
C |
5: 135,451,026 (GRCm39) |
E451G |
probably damaging |
Het |
Hs6st2 |
C |
T |
X: 50,770,332 (GRCm39) |
V50I |
possibly damaging |
Het |
Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
Map1s |
A |
G |
8: 71,365,163 (GRCm39) |
N107D |
probably damaging |
Het |
Mmel1 |
T |
A |
4: 154,974,043 (GRCm39) |
V361D |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,959,095 (GRCm39) |
D989G |
probably benign |
Het |
Myo1g |
G |
T |
11: 6,467,870 (GRCm39) |
H188Q |
possibly damaging |
Het |
Nup210 |
G |
T |
6: 91,002,224 (GRCm39) |
Q755K |
probably benign |
Het |
Or14j3 |
A |
G |
17: 37,900,587 (GRCm39) |
V219A |
probably benign |
Het |
Or51q1c |
A |
G |
7: 103,653,039 (GRCm39) |
M186V |
probably damaging |
Het |
Plcz1 |
C |
T |
6: 139,947,807 (GRCm39) |
R525Q |
probably damaging |
Het |
Ppef2 |
T |
G |
5: 92,376,581 (GRCm39) |
S649R |
probably damaging |
Het |
Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
Sez6l |
A |
G |
5: 112,623,227 (GRCm39) |
L108P |
possibly damaging |
Het |
Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
Sspo |
C |
T |
6: 48,457,631 (GRCm39) |
R3178C |
probably damaging |
Het |
St6galnac1 |
A |
G |
11: 116,656,682 (GRCm39) |
W486R |
probably damaging |
Het |
Syk |
A |
G |
13: 52,785,775 (GRCm39) |
D327G |
probably benign |
Het |
Tbc1d8b |
C |
T |
X: 138,614,140 (GRCm39) |
A391V |
probably benign |
Het |
Tmed9 |
A |
G |
13: 55,743,387 (GRCm39) |
E173G |
probably benign |
Het |
Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
Ubn2 |
A |
G |
6: 38,475,674 (GRCm39) |
T1211A |
probably benign |
Het |
Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
Zfp92 |
C |
T |
X: 72,463,900 (GRCm39) |
|
probably benign |
Het |
Zfyve28 |
C |
T |
5: 34,357,028 (GRCm39) |
M723I |
probably benign |
Het |
Zmynd8 |
A |
T |
2: 165,657,371 (GRCm39) |
M533K |
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 |
IGL02643:Slc1a7
|
APN |
4 |
107,869,497 (GRCm39) |
missense |
possibly damaging |
0.86 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGTGTGGCTCTCTACCAG -3'
(R):5'- AACATCTGGACCTCTGCAGC -3'
Sequencing Primer
(F):5'- AGTTCCCCACTGAGGTTGCTG -3'
(R):5'- TTGTGGTGACCCCCAACCATAG -3'
|
Posted On |
2015-02-18 |