Incidental Mutation 'R1037:Slc17a6'
| ID |
93864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc17a6
|
| Ensembl Gene |
ENSMUSG00000030500 |
| Gene Name |
solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 |
| Synonyms |
VGLUT2, 2900073D12Rik |
| MMRRC Submission |
039136-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1037 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
51271754-51320867 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 51298996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032710]
[ENSMUST00000207945]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032710
|
| SMART Domains |
Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
76 |
461 |
6.5e-50 |
PFAM |
|
transmembrane domain
|
476 |
498 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207375
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208597
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.1%
- 10x: 94.3%
- 20x: 85.9%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,436,144 (GRCm39) |
S139G |
probably benign |
Het |
| Abca2 |
T |
A |
2: 25,328,240 (GRCm39) |
|
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,875,657 (GRCm39) |
N610I |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,984,982 (GRCm39) |
F2089L |
probably benign |
Het |
| Cacnb1 |
T |
C |
11: 97,895,843 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
T |
C |
9: 13,730,275 (GRCm39) |
I61V |
possibly damaging |
Het |
| Ckap5 |
T |
C |
2: 91,380,974 (GRCm39) |
I110T |
probably benign |
Het |
| Clasp2 |
T |
C |
9: 113,725,702 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
C |
3: 113,987,801 (GRCm39) |
E265A |
probably damaging |
Het |
| Cst13 |
A |
G |
2: 148,672,251 (GRCm39) |
|
probably benign |
Het |
| Cyp24a1 |
G |
A |
2: 170,333,537 (GRCm39) |
T272M |
probably damaging |
Het |
| Cyp4a14 |
A |
C |
4: 115,347,193 (GRCm39) |
L415R |
probably damaging |
Het |
| Dbnl |
T |
C |
11: 5,746,807 (GRCm39) |
F179S |
probably damaging |
Het |
| Eepd1 |
T |
C |
9: 25,498,079 (GRCm39) |
L388P |
possibly damaging |
Het |
| Exosc8 |
G |
T |
3: 54,640,159 (GRCm39) |
A55E |
probably damaging |
Het |
| Fam72a |
G |
A |
1: 131,461,557 (GRCm39) |
V81I |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,700,277 (GRCm39) |
M2182I |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,862,322 (GRCm39) |
P2234S |
probably damaging |
Het |
| Grn |
C |
A |
11: 102,323,896 (GRCm39) |
D33E |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,456,163 (GRCm39) |
|
probably benign |
Het |
| H2bc15 |
T |
A |
13: 21,938,417 (GRCm39) |
V42E |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,562,378 (GRCm39) |
Q229R |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,480,412 (GRCm39) |
E308G |
probably damaging |
Het |
| Kmo |
C |
T |
1: 175,479,184 (GRCm39) |
P240L |
possibly damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,330 (GRCm39) |
M319V |
probably benign |
Het |
| Mia3 |
T |
C |
1: 183,138,698 (GRCm39) |
I672M |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mlc1 |
A |
G |
15: 88,849,664 (GRCm39) |
L223P |
probably damaging |
Het |
| Mmp21 |
T |
C |
7: 133,276,182 (GRCm39) |
K554E |
probably benign |
Het |
| Nup160 |
C |
T |
2: 90,524,246 (GRCm39) |
T383I |
probably damaging |
Het |
| Opcml |
T |
A |
9: 28,814,595 (GRCm39) |
D290E |
probably damaging |
Het |
| Or10a3b |
T |
A |
7: 108,445,191 (GRCm39) |
T9S |
probably benign |
Het |
| Or4a27 |
T |
A |
2: 88,559,376 (GRCm39) |
D189V |
probably damaging |
Het |
| Or5ac19 |
C |
T |
16: 59,089,307 (GRCm39) |
C241Y |
probably damaging |
Het |
| Or5d38 |
A |
G |
2: 87,954,573 (GRCm39) |
I252T |
probably damaging |
Het |
| Or5k14 |
T |
C |
16: 58,693,333 (GRCm39) |
Y60C |
probably damaging |
Het |
| Palm3 |
C |
A |
8: 84,755,901 (GRCm39) |
T471K |
probably benign |
Het |
| Prl2c5 |
T |
A |
13: 13,360,492 (GRCm39) |
L50* |
probably null |
Het |
| Pzp |
T |
C |
6: 128,496,389 (GRCm39) |
N281S |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,590,900 (GRCm39) |
Y1722C |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,699,453 (GRCm39) |
V879A |
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,531,975 (GRCm39) |
S736P |
possibly damaging |
Het |
| Septin5 |
G |
A |
16: 18,441,844 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,010,433 (GRCm39) |
T1976S |
probably benign |
Het |
| Swt1 |
A |
T |
1: 151,246,320 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,446,688 (GRCm39) |
W853R |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,953,532 (GRCm39) |
Q983L |
probably damaging |
Het |
| Tmem191 |
A |
G |
16: 17,094,347 (GRCm39) |
|
probably benign |
Het |
| Tmprss11g |
A |
T |
5: 86,638,606 (GRCm39) |
V294D |
probably damaging |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,082 (GRCm39) |
S463G |
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,329,385 (GRCm39) |
|
probably benign |
Het |
| Ttc1 |
A |
G |
11: 43,621,326 (GRCm39) |
V285A |
possibly damaging |
Het |
| Uckl1 |
C |
T |
2: 181,214,278 (GRCm39) |
R303H |
possibly damaging |
Het |
| Vwa8 |
C |
A |
14: 79,324,094 (GRCm39) |
C1132* |
probably null |
Het |
|
| Other mutations in Slc17a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01408:Slc17a6
|
APN |
7 |
51,318,863 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01653:Slc17a6
|
APN |
7 |
51,317,770 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01993:Slc17a6
|
APN |
7 |
51,317,705 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02082:Slc17a6
|
APN |
7 |
51,318,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02212:Slc17a6
|
APN |
7 |
51,317,218 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02544:Slc17a6
|
APN |
7 |
51,315,903 (GRCm39) |
nonsense |
probably null |
|
|
IGL02585:Slc17a6
|
APN |
7 |
51,275,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03206:Slc17a6
|
APN |
7 |
51,315,771 (GRCm39) |
splice site |
probably benign |
|
|
IGL03396:Slc17a6
|
APN |
7 |
51,318,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Slc17a6
|
UTSW |
7 |
51,315,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0141:Slc17a6
|
UTSW |
7 |
51,318,815 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0207:Slc17a6
|
UTSW |
7 |
51,295,928 (GRCm39) |
intron |
probably benign |
|
|
R0362:Slc17a6
|
UTSW |
7 |
51,308,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0841:Slc17a6
|
UTSW |
7 |
51,275,063 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1325:Slc17a6
|
UTSW |
7 |
51,311,300 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1614:Slc17a6
|
UTSW |
7 |
51,296,025 (GRCm39) |
intron |
probably benign |
|
|
R1625:Slc17a6
|
UTSW |
7 |
51,311,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1736:Slc17a6
|
UTSW |
7 |
51,311,333 (GRCm39) |
splice site |
probably benign |
|
|
R1777:Slc17a6
|
UTSW |
7 |
51,295,957 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1824:Slc17a6
|
UTSW |
7 |
51,311,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2249:Slc17a6
|
UTSW |
7 |
51,317,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4283:Slc17a6
|
UTSW |
7 |
51,294,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Slc17a6
|
UTSW |
7 |
51,308,489 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5301:Slc17a6
|
UTSW |
7 |
51,308,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5523:Slc17a6
|
UTSW |
7 |
51,276,598 (GRCm39) |
nonsense |
probably null |
|
|
R5570:Slc17a6
|
UTSW |
7 |
51,308,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5720:Slc17a6
|
UTSW |
7 |
51,275,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5736:Slc17a6
|
UTSW |
7 |
51,294,841 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5765:Slc17a6
|
UTSW |
7 |
51,275,249 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6380:Slc17a6
|
UTSW |
7 |
51,317,211 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6989:Slc17a6
|
UTSW |
7 |
51,311,224 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7178:Slc17a6
|
UTSW |
7 |
51,317,259 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7194:Slc17a6
|
UTSW |
7 |
51,276,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Slc17a6
|
UTSW |
7 |
51,294,766 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7766:Slc17a6
|
UTSW |
7 |
51,318,914 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7877:Slc17a6
|
UTSW |
7 |
51,275,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7898:Slc17a6
|
UTSW |
7 |
51,308,573 (GRCm39) |
splice site |
probably null |
|
|
R8059:Slc17a6
|
UTSW |
7 |
51,294,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8788:Slc17a6
|
UTSW |
7 |
51,298,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGGTTCGATTCTAGGTATGGTCCTGT -3'
(R):5'- GCCCTGTATTCTCCTCACTGTCAGAAG -3'
Sequencing Primer
(F):5'- TCTGTAAGGATGTAGGGTGAAC -3'
(R):5'- TCCTCACTGTCAGAAGCATATTAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation