Incidental Mutation 'R1077:Slc17a1'
| ID |
85701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc17a1
|
| Ensembl Gene |
ENSMUSG00000021335 |
| Gene Name |
solute carrier family 17 (sodium phosphate), member 1 |
| Synonyms |
Npt1, NAPI-1 |
| MMRRC Submission |
039163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R1077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
24051733-24079713 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 24062433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006785]
[ENSMUST00000110413]
[ENSMUST00000130211]
|
| AlphaFold |
Q61983 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006785
|
| SMART Domains |
Protein: ENSMUSP00000006785
Gene: ENSMUSG00000021335
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
24 |
412 |
2.7e-48 |
PFAM |
|
transmembrane domain
|
430 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110413
|
| SMART Domains |
Protein: ENSMUSP00000106043
Gene: ENSMUSG00000021335
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
24 |
412 |
3.1e-48 |
PFAM |
|
transmembrane domain
|
430 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130211
|
| SMART Domains |
Protein: ENSMUSP00000120824
Gene: ENSMUSG00000021335
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
T |
C |
9: 114,130,770 (GRCm39) |
|
noncoding transcript |
Het |
| Apob |
A |
G |
12: 8,056,017 (GRCm39) |
K1500E |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,706,333 (GRCm39) |
Y225* |
probably null |
Het |
| Cdc25c |
A |
T |
18: 34,882,026 (GRCm39) |
|
probably benign |
Het |
| Ceacam15 |
T |
C |
7: 16,406,000 (GRCm39) |
N184D |
probably benign |
Het |
| Cntln |
T |
C |
4: 84,914,716 (GRCm39) |
S508P |
probably damaging |
Het |
| Defa41 |
T |
A |
8: 21,692,449 (GRCm39) |
F90Y |
probably benign |
Het |
| Dhx34 |
A |
G |
7: 15,952,293 (GRCm39) |
S111P |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,203,248 (GRCm39) |
E759G |
probably damaging |
Het |
| Fis1 |
G |
A |
5: 136,994,000 (GRCm39) |
A28T |
probably damaging |
Het |
| Fsd1 |
T |
C |
17: 56,297,542 (GRCm39) |
|
probably null |
Het |
| Grk6 |
T |
C |
13: 55,602,340 (GRCm39) |
|
probably null |
Het |
| Il23r |
A |
T |
6: 67,450,794 (GRCm39) |
H228Q |
probably benign |
Het |
| Kcnh4 |
C |
T |
11: 100,643,164 (GRCm39) |
V368I |
possibly damaging |
Het |
| Kdr |
T |
C |
5: 76,116,891 (GRCm39) |
E728G |
probably damaging |
Het |
| Krt33a |
T |
A |
11: 99,906,763 (GRCm39) |
M71L |
probably benign |
Het |
| Lrrc7 |
T |
G |
3: 157,866,780 (GRCm39) |
D987A |
probably damaging |
Het |
| Naalad2 |
C |
T |
9: 18,258,802 (GRCm39) |
R491Q |
probably damaging |
Het |
| Nedd4l |
A |
T |
18: 65,300,570 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,321,534 (GRCm39) |
L167S |
probably damaging |
Het |
| Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
| Psg18 |
G |
A |
7: 18,085,000 (GRCm39) |
T32I |
possibly damaging |
Het |
| Ric8b |
T |
A |
10: 84,806,581 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,376,824 (GRCm39) |
|
probably benign |
Het |
| Rttn |
T |
C |
18: 89,082,373 (GRCm39) |
V1433A |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,966,379 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sfta2 |
T |
C |
17: 35,961,019 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,937,626 (GRCm39) |
C314Y |
probably benign |
Het |
| Smpd4 |
T |
C |
16: 17,441,833 (GRCm39) |
V35A |
probably damaging |
Het |
| Sorl1 |
T |
C |
9: 41,925,786 (GRCm39) |
D1182G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,088,809 (GRCm39) |
I5056V |
possibly damaging |
Het |
| Tex14 |
T |
C |
11: 87,410,571 (GRCm39) |
|
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,354,777 (GRCm39) |
T229A |
probably benign |
Het |
| Tfap2b |
T |
A |
1: 19,304,373 (GRCm39) |
C394* |
probably null |
Het |
| Ttk |
T |
A |
9: 83,726,202 (GRCm39) |
|
probably benign |
Het |
| Vmn2r26 |
G |
A |
6: 124,030,872 (GRCm39) |
V536I |
probably benign |
Het |
| Wac |
A |
G |
18: 7,921,916 (GRCm39) |
T553A |
probably damaging |
Het |
| Wdcp |
T |
A |
12: 4,900,685 (GRCm39) |
H180Q |
probably damaging |
Het |
| Wdr33 |
A |
G |
18: 31,968,514 (GRCm39) |
H235R |
probably benign |
Het |
|
| Other mutations in Slc17a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00972:Slc17a1
|
APN |
13 |
24,062,437 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01453:Slc17a1
|
APN |
13 |
24,058,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01560:Slc17a1
|
APN |
13 |
24,058,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01910:Slc17a1
|
APN |
13 |
24,062,440 (GRCm39) |
unclassified |
probably benign |
|
|
R1939:Slc17a1
|
UTSW |
13 |
24,059,864 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2016:Slc17a1
|
UTSW |
13 |
24,062,522 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2134:Slc17a1
|
UTSW |
13 |
24,059,658 (GRCm39) |
nonsense |
probably null |
|
|
R3001:Slc17a1
|
UTSW |
13 |
24,062,564 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3002:Slc17a1
|
UTSW |
13 |
24,062,564 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4559:Slc17a1
|
UTSW |
13 |
24,062,695 (GRCm39) |
nonsense |
probably null |
|
|
R4580:Slc17a1
|
UTSW |
13 |
24,071,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Slc17a1
|
UTSW |
13 |
24,062,543 (GRCm39) |
missense |
probably benign |
|
|
R4696:Slc17a1
|
UTSW |
13 |
24,064,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Slc17a1
|
UTSW |
13 |
24,064,576 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4845:Slc17a1
|
UTSW |
13 |
24,060,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Slc17a1
|
UTSW |
13 |
24,064,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5517:Slc17a1
|
UTSW |
13 |
24,056,575 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6020:Slc17a1
|
UTSW |
13 |
24,059,593 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7403:Slc17a1
|
UTSW |
13 |
24,058,690 (GRCm39) |
missense |
probably benign |
|
|
R7440:Slc17a1
|
UTSW |
13 |
24,062,466 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7747:Slc17a1
|
UTSW |
13 |
24,072,035 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8063:Slc17a1
|
UTSW |
13 |
24,059,524 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8323:Slc17a1
|
UTSW |
13 |
24,071,982 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8880:Slc17a1
|
UTSW |
13 |
24,062,732 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9205:Slc17a1
|
UTSW |
13 |
24,062,794 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9243:Slc17a1
|
UTSW |
13 |
24,064,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTCTAGCTCTGTGAATGCTCAG -3'
(R):5'- TGGAGCAGAATCTAGAAGCTGCCC -3'
Sequencing Primer
(F):5'- CTAGTTGGATTAGGACAGACCATC -3'
(R):5'- TCTAGAAGCTGCCCAAAAGG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation