Incidental Mutation 'R6088:Slc1a7'
| ID |
486079 |
| 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 |
044245-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6088 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
107825603-107870726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107869641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 569
(V569M)
|
| 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 damaging
Transcript: ENSMUST00000106713
AA Change: V569M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102324
Gene: ENSMUSG00000008932
AA Change: V569M
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
G |
T |
18: 59,035,174 (GRCm39) |
V360F |
probably damaging |
Het |
| Ankrd17 |
C |
T |
5: 90,401,547 (GRCm39) |
E1605K |
possibly damaging |
Het |
| Arid4a |
A |
G |
12: 71,069,010 (GRCm39) |
D54G |
probably damaging |
Het |
| Baz2a |
TCTCCTC |
TCTC |
10: 127,950,511 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
G |
A |
17: 28,103,579 (GRCm39) |
|
probably null |
Het |
| Card6 |
A |
T |
15: 5,134,501 (GRCm39) |
V234E |
possibly damaging |
Het |
| Cd1d1 |
G |
T |
3: 86,906,009 (GRCm39) |
Q89K |
probably benign |
Het |
| Ciita |
G |
A |
16: 10,329,795 (GRCm39) |
R693K |
probably damaging |
Het |
| Cox7a2l |
G |
T |
17: 83,811,401 (GRCm39) |
L77I |
probably benign |
Het |
| Crybg2 |
A |
T |
4: 133,803,101 (GRCm39) |
|
probably null |
Het |
| Cts8 |
T |
C |
13: 61,401,780 (GRCm39) |
N39S |
probably benign |
Het |
| Def8 |
G |
T |
8: 124,186,787 (GRCm39) |
E456* |
probably null |
Het |
| Dld |
A |
G |
12: 31,390,988 (GRCm39) |
F153L |
probably benign |
Het |
| Elf1 |
C |
T |
14: 79,804,701 (GRCm39) |
T122I |
probably benign |
Het |
| Emilin2 |
T |
C |
17: 71,562,119 (GRCm39) |
N961S |
probably benign |
Het |
| Esp24 |
A |
G |
17: 39,350,901 (GRCm39) |
I34V |
probably benign |
Het |
| Fam184b |
C |
A |
5: 45,741,354 (GRCm39) |
K292N |
probably damaging |
Het |
| Gabrg3 |
T |
A |
7: 56,634,826 (GRCm39) |
N119I |
probably damaging |
Het |
| Gucy1b1 |
T |
C |
3: 81,942,187 (GRCm39) |
H524R |
probably damaging |
Het |
| Kcp |
A |
T |
6: 29,502,631 (GRCm39) |
S205T |
probably benign |
Het |
| Klb |
C |
T |
5: 65,506,356 (GRCm39) |
T201M |
probably benign |
Het |
| Lamp3 |
A |
T |
16: 19,492,148 (GRCm39) |
F365L |
probably damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,179,718 (GRCm39) |
H390L |
probably benign |
Het |
| Mlxipl |
T |
C |
5: 135,162,884 (GRCm39) |
Y711H |
possibly damaging |
Het |
| Myo5b |
T |
A |
18: 74,853,969 (GRCm39) |
L1196Q |
possibly damaging |
Het |
| Ndufb8 |
A |
G |
19: 44,543,464 (GRCm39) |
S70P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,099,354 (GRCm39) |
D4832G |
probably damaging |
Het |
| Niban2 |
T |
C |
2: 32,813,135 (GRCm39) |
V540A |
probably damaging |
Het |
| Nr5a1 |
T |
C |
2: 38,592,007 (GRCm39) |
D322G |
probably benign |
Het |
| Or1e1d-ps1 |
A |
T |
11: 73,819,649 (GRCm39) |
T273S |
probably benign |
Het |
| Or5ak20 |
T |
A |
2: 85,183,698 (GRCm39) |
S191C |
probably damaging |
Het |
| Oscar |
G |
A |
7: 3,614,311 (GRCm39) |
P143S |
probably benign |
Het |
| Oxa1l |
T |
A |
14: 54,605,151 (GRCm39) |
|
probably null |
Het |
| Pafah2 |
A |
G |
4: 134,140,692 (GRCm39) |
I221V |
probably benign |
Het |
| Pibf1 |
T |
A |
14: 99,416,794 (GRCm39) |
F456I |
probably benign |
Het |
| Pla2g4d |
C |
T |
2: 120,100,487 (GRCm39) |
G615D |
probably damaging |
Het |
| Plekhg2 |
C |
T |
7: 28,060,438 (GRCm39) |
V964I |
probably benign |
Het |
| Ppip5k1 |
C |
A |
2: 121,167,944 (GRCm39) |
V770L |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,922,852 (GRCm39) |
L213Q |
possibly damaging |
Het |
| Ptprf |
G |
A |
4: 118,067,952 (GRCm39) |
T1785I |
possibly damaging |
Het |
| Pycr2 |
G |
A |
1: 180,733,801 (GRCm39) |
G131E |
probably damaging |
Het |
| Rbpj |
C |
T |
5: 53,808,710 (GRCm39) |
|
probably null |
Het |
| Rcc1 |
G |
T |
4: 132,060,153 (GRCm39) |
D430E |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,162,007 (GRCm39) |
V525A |
possibly damaging |
Het |
| Samd7 |
G |
A |
3: 30,810,632 (GRCm39) |
M216I |
probably benign |
Het |
| Ska3 |
A |
T |
14: 58,054,151 (GRCm39) |
D266E |
probably benign |
Het |
| Slc26a1 |
C |
T |
5: 108,821,872 (GRCm39) |
E6K |
possibly damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,345,563 (GRCm39) |
V741E |
probably benign |
Het |
| St6galnac3 |
C |
T |
3: 152,912,352 (GRCm39) |
G164S |
probably damaging |
Het |
| Tgs1 |
T |
A |
4: 3,595,383 (GRCm39) |
N517K |
probably benign |
Het |
| Tns4 |
A |
G |
11: 98,964,546 (GRCm39) |
S522P |
probably damaging |
Het |
| Trpm1 |
A |
T |
7: 63,917,724 (GRCm39) |
M355L |
probably damaging |
Het |
| Trpm8 |
G |
A |
1: 88,234,400 (GRCm39) |
|
probably benign |
Het |
| V1ra8 |
T |
C |
6: 90,180,082 (GRCm39) |
F95S |
probably damaging |
Het |
| Zfp521 |
A |
C |
18: 13,979,166 (GRCm39) |
S416A |
possibly damaging |
Het |
| Zfp574 |
T |
A |
7: 24,779,764 (GRCm39) |
V262E |
probably benign |
Het |
| Zfp740 |
T |
A |
15: 102,117,243 (GRCm39) |
I77N |
probably damaging |
Het |
| Zscan18 |
A |
T |
7: 12,509,125 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- TGCTACCCTGTGAGACCAAG -3'
(R):5'- AGAGCCATAGTTGCTGATGG -3'
Sequencing Primer
(F):5'- CCAGTGACACTGCAGGAGATC -3'
(R):5'- CTGATGGGTCTCTGCACATAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation