Incidental Mutation 'IGL02370:Slc5a9'
| ID |
290881 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc5a9
|
| Ensembl Gene |
ENSMUSG00000028544 |
| Gene Name |
solute carrier family 5 (sodium/glucose cotransporter), member 9 |
| Synonyms |
SGLT4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL02370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111732571-111759993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111734826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 656
(I656T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102719]
[ENSMUST00000102720]
[ENSMUST00000102721]
|
| AlphaFold |
Q8VDT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102719
AA Change: I656T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000099780
Gene: ENSMUSG00000028544
AA Change: I656T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
44 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
63 |
492 |
2.3e-152 |
PFAM |
|
transmembrane domain
|
526 |
548 |
N/A |
INTRINSIC |
|
transmembrane domain
|
665 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102720
AA Change: I656T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000099781
Gene: ENSMUSG00000028544
AA Change: I656T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
44 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
63 |
492 |
2.3e-152 |
PFAM |
|
transmembrane domain
|
526 |
548 |
N/A |
INTRINSIC |
|
transmembrane domain
|
665 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102721
AA Change: I656T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000099782
Gene: ENSMUSG00000028544
AA Change: I656T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
44 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
63 |
492 |
2.3e-152 |
PFAM |
|
transmembrane domain
|
526 |
548 |
N/A |
INTRINSIC |
|
transmembrane domain
|
665 |
684 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128224
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154838
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732471J01Rik |
T |
C |
7: 25,084,313 (GRCm39) |
|
probably benign |
Het |
| Abra |
T |
C |
15: 41,732,640 (GRCm39) |
D142G |
probably damaging |
Het |
| Aldh9a1 |
A |
G |
1: 167,184,101 (GRCm39) |
N199D |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,753,933 (GRCm39) |
I1130N |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,013,085 (GRCm39) |
I312V |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,554,541 (GRCm39) |
M367V |
possibly damaging |
Het |
| Clec12a |
C |
T |
6: 129,331,539 (GRCm39) |
A160V |
possibly damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,460,389 (GRCm39) |
|
probably null |
Het |
| Cntnap3 |
A |
T |
13: 64,899,565 (GRCm39) |
M976K |
probably benign |
Het |
| Cyp27b1 |
T |
C |
10: 126,886,543 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
T |
A |
5: 120,757,852 (GRCm39) |
L226Q |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,674,556 (GRCm39) |
V407A |
probably benign |
Het |
| Elp4 |
A |
G |
2: 105,624,937 (GRCm39) |
S201P |
probably damaging |
Het |
| Exoc3 |
A |
T |
13: 74,340,880 (GRCm39) |
V308D |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,671 (GRCm39) |
I117T |
probably damaging |
Het |
| Gbx2 |
A |
T |
1: 89,856,871 (GRCm39) |
|
probably benign |
Het |
| Hnf1b |
A |
C |
11: 83,773,559 (GRCm39) |
T253P |
possibly damaging |
Het |
| Inhca |
A |
G |
9: 103,140,273 (GRCm39) |
V482A |
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,191,786 (GRCm39) |
Y107F |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,159 (GRCm39) |
N677S |
probably benign |
Het |
| Knstrn |
T |
A |
2: 118,654,269 (GRCm39) |
|
probably null |
Het |
| Lin9 |
G |
T |
1: 180,515,583 (GRCm39) |
C451F |
probably damaging |
Het |
| Mast1 |
A |
C |
8: 85,638,883 (GRCm39) |
V1482G |
probably benign |
Het |
| Mroh4 |
A |
G |
15: 74,497,390 (GRCm39) |
F144L |
probably benign |
Het |
| Myrf |
T |
C |
19: 10,191,504 (GRCm39) |
N945D |
probably benign |
Het |
| Nfrkb |
G |
A |
9: 31,300,308 (GRCm39) |
G33D |
probably benign |
Het |
| Or5m9b |
C |
A |
2: 85,905,132 (GRCm39) |
T16K |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,116,886 (GRCm39) |
I297M |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,647,645 (GRCm39) |
|
probably null |
Het |
| Pitpnm3 |
A |
G |
11: 71,942,684 (GRCm39) |
Y868H |
probably benign |
Het |
| Pou2f3 |
G |
A |
9: 43,048,643 (GRCm39) |
R266W |
probably damaging |
Het |
| Rcn3 |
T |
C |
7: 44,732,757 (GRCm39) |
S304G |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,494,397 (GRCm39) |
|
probably null |
Het |
| Sema5a |
T |
C |
15: 32,682,445 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,207,008 (GRCm39) |
L565P |
probably damaging |
Het |
| Sptan1 |
A |
G |
2: 29,920,752 (GRCm39) |
K2404R |
probably damaging |
Het |
| Tars3 |
C |
A |
7: 65,310,913 (GRCm39) |
P314Q |
probably benign |
Het |
| Tbc1d14 |
C |
T |
5: 36,652,562 (GRCm39) |
V627I |
possibly damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,354 (GRCm39) |
D124G |
possibly damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,410,185 (GRCm39) |
V394D |
probably damaging |
Het |
| Trerf1 |
C |
T |
17: 47,625,387 (GRCm39) |
|
noncoding transcript |
Het |
| Ucp2 |
A |
G |
7: 100,147,591 (GRCm39) |
N190S |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,284,453 (GRCm39) |
Q498R |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 19,969,221 (GRCm39) |
I4N |
probably damaging |
Het |
| Zfp574 |
T |
G |
7: 24,779,014 (GRCm39) |
I12S |
possibly damaging |
Het |
| Zscan29 |
T |
A |
2: 120,994,314 (GRCm39) |
E522V |
probably benign |
Het |
|
| Other mutations in Slc5a9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Slc5a9
|
APN |
4 |
111,755,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00837:Slc5a9
|
APN |
4 |
111,750,887 (GRCm39) |
intron |
probably benign |
|
|
IGL01556:Slc5a9
|
APN |
4 |
111,755,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01807:Slc5a9
|
APN |
4 |
111,734,737 (GRCm39) |
makesense |
probably null |
|
|
IGL01816:Slc5a9
|
APN |
4 |
111,755,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Slc5a9
|
APN |
4 |
111,744,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02491:Slc5a9
|
APN |
4 |
111,753,549 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02971:Slc5a9
|
APN |
4 |
111,747,497 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03008:Slc5a9
|
APN |
4 |
111,748,138 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0365:Slc5a9
|
UTSW |
4 |
111,749,033 (GRCm39) |
nonsense |
probably null |
|
|
R0559:Slc5a9
|
UTSW |
4 |
111,742,779 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0659:Slc5a9
|
UTSW |
4 |
111,741,068 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1454:Slc5a9
|
UTSW |
4 |
111,741,161 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2006:Slc5a9
|
UTSW |
4 |
111,737,423 (GRCm39) |
missense |
probably benign |
|
|
R2014:Slc5a9
|
UTSW |
4 |
111,753,546 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2024:Slc5a9
|
UTSW |
4 |
111,747,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2076:Slc5a9
|
UTSW |
4 |
111,742,770 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2152:Slc5a9
|
UTSW |
4 |
111,750,420 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3156:Slc5a9
|
UTSW |
4 |
111,747,421 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4566:Slc5a9
|
UTSW |
4 |
111,748,941 (GRCm39) |
splice site |
probably null |
|
|
R4568:Slc5a9
|
UTSW |
4 |
111,748,941 (GRCm39) |
splice site |
probably null |
|
|
R4579:Slc5a9
|
UTSW |
4 |
111,750,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Slc5a9
|
UTSW |
4 |
111,748,941 (GRCm39) |
splice site |
probably null |
|
|
R4657:Slc5a9
|
UTSW |
4 |
111,748,941 (GRCm39) |
splice site |
probably null |
|
|
R4700:Slc5a9
|
UTSW |
4 |
111,748,134 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4889:Slc5a9
|
UTSW |
4 |
111,748,941 (GRCm39) |
splice site |
probably null |
|
|
R4891:Slc5a9
|
UTSW |
4 |
111,748,941 (GRCm39) |
splice site |
probably null |
|
|
R4911:Slc5a9
|
UTSW |
4 |
111,748,941 (GRCm39) |
splice site |
probably null |
|
|
R4948:Slc5a9
|
UTSW |
4 |
111,748,941 (GRCm39) |
splice site |
probably null |
|
|
R4953:Slc5a9
|
UTSW |
4 |
111,748,941 (GRCm39) |
splice site |
probably null |
|
|
R5222:Slc5a9
|
UTSW |
4 |
111,755,808 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5376:Slc5a9
|
UTSW |
4 |
111,750,414 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5502:Slc5a9
|
UTSW |
4 |
111,750,366 (GRCm39) |
nonsense |
probably null |
|
|
R5851:Slc5a9
|
UTSW |
4 |
111,742,797 (GRCm39) |
missense |
probably benign |
|
|
R6030:Slc5a9
|
UTSW |
4 |
111,742,725 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6030:Slc5a9
|
UTSW |
4 |
111,742,725 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6125:Slc5a9
|
UTSW |
4 |
111,741,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Slc5a9
|
UTSW |
4 |
111,737,450 (GRCm39) |
missense |
probably benign |
|
|
R6438:Slc5a9
|
UTSW |
4 |
111,749,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7105:Slc5a9
|
UTSW |
4 |
111,755,892 (GRCm39) |
missense |
probably benign |
|
|
R7166:Slc5a9
|
UTSW |
4 |
111,741,036 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7489:Slc5a9
|
UTSW |
4 |
111,741,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7599:Slc5a9
|
UTSW |
4 |
111,734,937 (GRCm39) |
missense |
probably benign |
|
|
R7662:Slc5a9
|
UTSW |
4 |
111,734,737 (GRCm39) |
makesense |
probably null |
|
|
R7762:Slc5a9
|
UTSW |
4 |
111,747,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7992:Slc5a9
|
UTSW |
4 |
111,747,729 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8851:Slc5a9
|
UTSW |
4 |
111,755,790 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8918:Slc5a9
|
UTSW |
4 |
111,741,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9387:Slc5a9
|
UTSW |
4 |
111,750,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Slc5a9
|
UTSW |
4 |
111,734,803 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9483:Slc5a9
|
UTSW |
4 |
111,747,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9506:Slc5a9
|
UTSW |
4 |
111,750,439 (GRCm39) |
nonsense |
probably null |
|
|
X0012:Slc5a9
|
UTSW |
4 |
111,750,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Slc5a9
|
UTSW |
4 |
111,749,013 (GRCm39) |
missense |
probably null |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation