Incidental Mutation 'R3414:Slc1a7'
| ID |
266727 |
| 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 |
040632-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R3414 (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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,559 (GRCm39) |
Q802L |
probably benign |
Het |
| Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,533,129 (GRCm39) |
T261K |
possibly damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,389,204 (GRCm39) |
V1178A |
probably benign |
Het |
| Ddx18 |
T |
C |
1: 121,489,878 (GRCm39) |
N177S |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,083,807 (GRCm39) |
K621E |
probably damaging |
Het |
| Eef2 |
G |
T |
10: 81,013,692 (GRCm39) |
R66L |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,108,179 (GRCm39) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,524,771 (GRCm39) |
D234E |
possibly damaging |
Het |
| Ifi202b |
A |
G |
1: 173,791,479 (GRCm39) |
S400P |
probably benign |
Het |
| Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
| Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
| Il7 |
G |
T |
3: 7,641,093 (GRCm39) |
Q67K |
probably benign |
Het |
| Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
| Klk1b26 |
A |
G |
7: 43,666,297 (GRCm39) |
I247V |
probably benign |
Het |
| Klrc1 |
A |
G |
6: 129,654,726 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,044,598 (GRCm39) |
C166R |
probably damaging |
Het |
| Mrps5 |
A |
G |
2: 127,438,832 (GRCm39) |
D219G |
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,501,100 (GRCm39) |
T806A |
probably damaging |
Het |
| Naip2 |
G |
A |
13: 100,325,771 (GRCm39) |
R46* |
probably null |
Het |
| Nos2 |
A |
T |
11: 78,848,414 (GRCm39) |
Y1107F |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,190,047 (GRCm39) |
I135T |
probably damaging |
Het |
| Or13c7b |
C |
T |
4: 43,821,258 (GRCm39) |
M34I |
probably benign |
Het |
| Or2d4 |
G |
T |
7: 106,543,383 (GRCm39) |
S275* |
probably null |
Het |
| Or6c65 |
A |
G |
10: 129,604,301 (GRCm39) |
H312R |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,158,142 (GRCm39) |
S252R |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,738 (GRCm39) |
T310S |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,386,305 (GRCm39) |
L227Q |
probably damaging |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sec24a |
T |
A |
11: 51,620,285 (GRCm39) |
N456Y |
probably damaging |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Spata13 |
A |
G |
14: 60,944,172 (GRCm39) |
T522A |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
| Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,234,658 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
C |
1: 192,810,810 (GRCm39) |
S64R |
possibly damaging |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,696 (GRCm39) |
M205K |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,468,883 (GRCm39) |
K3014E |
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 |
|
R3413: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'- CAGTTGAGTGTGGCTCTCTAC -3'
(R):5'- AACATCTGGACCTCTGCAGC -3'
Sequencing Primer
(F):5'- GAGTGTGGCTCTCTACCAGTTC -3'
(R):5'- TTGTGGTGACCCCCAACCATAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation