Incidental Mutation 'IGL01453:Slc17a1'
| ID |
84699 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc17a1
|
| Ensembl Gene |
ENSMUSG00000021335 |
| Gene Name |
solute carrier family 17 (sodium phosphate), member 1 |
| Synonyms |
Npt1, NAPI-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL01453
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
24051733-24079713 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24058714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 56
(N56S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006785]
[ENSMUST00000110413]
[ENSMUST00000130211]
|
| AlphaFold |
Q61983 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006785
AA Change: N56S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000006785
Gene: ENSMUSG00000021335
AA Change: N56S
| 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 damaging
Transcript: ENSMUST00000110413
AA Change: N56S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106043
Gene: ENSMUSG00000021335
AA Change: N56S
| 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 damaging
Transcript: ENSMUST00000130211
AA Change: N56S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120824
Gene: ENSMUSG00000021335
AA Change: N56S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,831,705 (GRCm39) |
S1216P |
probably damaging |
Het |
| Abl1 |
A |
G |
2: 31,668,989 (GRCm39) |
T104A |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,296,202 (GRCm39) |
M1066K |
possibly damaging |
Het |
| Armc1 |
T |
C |
3: 19,198,594 (GRCm39) |
N122S |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,504,307 (GRCm39) |
T4600M |
probably damaging |
Het |
| Hrh1 |
T |
A |
6: 114,458,123 (GRCm39) |
I468N |
probably damaging |
Het |
| Krt34 |
A |
T |
11: 99,930,916 (GRCm39) |
L162Q |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 140,294,492 (GRCm39) |
|
probably benign |
Het |
| Mfsd9 |
C |
A |
1: 40,829,638 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
C |
T |
10: 111,328,839 (GRCm39) |
T256I |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,192 (GRCm39) |
I54V |
probably benign |
Het |
| Or5h22 |
T |
C |
16: 58,895,132 (GRCm39) |
I104V |
probably benign |
Het |
| Or6k4 |
A |
G |
1: 173,964,679 (GRCm39) |
Y123C |
possibly damaging |
Het |
| Pard6a |
T |
A |
8: 106,429,309 (GRCm39) |
|
probably null |
Het |
| Pmm2 |
G |
A |
16: 8,466,532 (GRCm39) |
R119Q |
probably damaging |
Het |
| Por |
C |
T |
5: 135,763,040 (GRCm39) |
Q517* |
probably null |
Het |
| Ppil6 |
T |
C |
10: 41,374,473 (GRCm39) |
I118T |
probably benign |
Het |
| Psg26 |
A |
G |
7: 18,213,999 (GRCm39) |
V221A |
possibly damaging |
Het |
| Ptpru |
C |
A |
4: 131,496,803 (GRCm39) |
|
probably benign |
Het |
| Rpl27a |
T |
A |
7: 109,118,832 (GRCm39) |
V15E |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,296,527 (GRCm39) |
|
probably benign |
Het |
| Sybu |
A |
T |
15: 44,536,201 (GRCm39) |
D508E |
probably damaging |
Het |
| Tada2b |
A |
C |
5: 36,633,686 (GRCm39) |
N222K |
probably damaging |
Het |
| Tbcb |
T |
C |
7: 29,930,627 (GRCm39) |
|
probably null |
Het |
| Tmprss11f |
C |
A |
5: 86,692,691 (GRCm39) |
G78* |
probably null |
Het |
| Vmn2r65 |
T |
C |
7: 84,589,708 (GRCm39) |
Y736C |
probably damaging |
Het |
| Zc3h7a |
G |
A |
16: 10,967,242 (GRCm39) |
P517S |
probably benign |
Het |
| Zfp280d |
A |
G |
9: 72,229,868 (GRCm39) |
T392A |
possibly damaging |
Het |
| Zfp318 |
T |
A |
17: 46,719,942 (GRCm39) |
|
probably null |
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 |
|
|
IGL01560:Slc17a1
|
APN |
13 |
24,058,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01910:Slc17a1
|
APN |
13 |
24,062,440 (GRCm39) |
unclassified |
probably benign |
|
|
R1077:Slc17a1
|
UTSW |
13 |
24,062,433 (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 |
|
| Posted On |
2013-11-11 |
Incidental Mutation