Incidental Mutation 'IGL01556:Slc5a9'
| ID |
90708 |
| 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: 0.081)
|
| Stock # |
IGL01556
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111732571-111759993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111755833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 22
(T22S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102719]
[ENSMUST00000102720]
[ENSMUST00000102721]
[ENSMUST00000128340]
|
| AlphaFold |
Q8VDT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102719
AA Change: T22S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099780
Gene: ENSMUSG00000028544
AA Change: T22S
| 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: T22S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099781
Gene: ENSMUSG00000028544
AA Change: T22S
| 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: T22S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000099782
Gene: ENSMUSG00000028544
AA Change: T22S
| 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: ENSMUST00000128340
|
| SMART Domains |
Protein: ENSMUSP00000120546
Gene: ENSMUSG00000028544
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
23 |
255 |
9.3e-70 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
T |
C |
8: 114,571,741 (GRCm39) |
I81V |
probably benign |
Het |
| Aoc1l1 |
A |
C |
6: 48,952,618 (GRCm39) |
D181A |
possibly damaging |
Het |
| Armc3 |
T |
A |
2: 19,273,957 (GRCm39) |
D330E |
probably damaging |
Het |
| Atp6v0b |
A |
G |
4: 117,743,062 (GRCm39) |
F49S |
probably damaging |
Het |
| Atp8b3 |
A |
C |
10: 80,366,802 (GRCm39) |
Y265* |
probably null |
Het |
| Cby2 |
A |
G |
14: 75,821,551 (GRCm39) |
F16S |
probably damaging |
Het |
| Cdh11 |
A |
G |
8: 103,406,276 (GRCm39) |
Y66H |
probably damaging |
Het |
| Cntn5 |
T |
A |
9: 9,673,913 (GRCm39) |
M730L |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,063,071 (GRCm39) |
T1556A |
probably benign |
Het |
| Dixdc1 |
A |
G |
9: 50,617,434 (GRCm39) |
S128P |
probably damaging |
Het |
| Egfr |
T |
C |
11: 16,855,382 (GRCm39) |
L889S |
probably damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,640 (GRCm39) |
Y245H |
probably benign |
Het |
| Fam124a |
G |
A |
14: 62,825,181 (GRCm39) |
C225Y |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,442,702 (GRCm39) |
T2612A |
probably benign |
Het |
| Gkap1 |
A |
T |
13: 58,411,106 (GRCm39) |
I89N |
probably benign |
Het |
| Gm8247 |
A |
T |
14: 44,823,811 (GRCm39) |
K75* |
probably null |
Het |
| Gpi-ps |
A |
G |
8: 5,689,833 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac11 |
T |
A |
6: 91,150,162 (GRCm39) |
H320Q |
probably benign |
Het |
| Iyd |
A |
G |
10: 3,497,091 (GRCm39) |
I149V |
probably benign |
Het |
| Krtap4-6 |
T |
A |
11: 99,556,676 (GRCm39) |
Q17L |
unknown |
Het |
| Lrrc24 |
T |
A |
15: 76,606,775 (GRCm39) |
D207V |
probably damaging |
Het |
| Mfsd12 |
G |
A |
10: 81,198,858 (GRCm39) |
C425Y |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,977 (GRCm39) |
T3308A |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,905,315 (GRCm39) |
|
probably benign |
Het |
| Ndufa6 |
C |
T |
15: 82,238,282 (GRCm39) |
V50M |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,089,962 (GRCm39) |
V1151A |
probably benign |
Het |
| Nrf1 |
A |
G |
6: 30,126,366 (GRCm39) |
|
probably benign |
Het |
| Pcdhb20 |
T |
C |
18: 37,637,852 (GRCm39) |
I126T |
possibly damaging |
Het |
| Pdgfra |
G |
T |
5: 75,338,352 (GRCm39) |
L535F |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,535,078 (GRCm39) |
I212K |
possibly damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,150,450 (GRCm39) |
L87S |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,134,589 (GRCm39) |
R29S |
probably damaging |
Het |
| Zc3h12b |
C |
A |
X: 94,970,721 (GRCm39) |
F551L |
probably damaging |
Het |
| Zfp664 |
C |
A |
5: 124,963,252 (GRCm39) |
C215* |
probably null |
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 |
|
|
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 |
|
IGL02370:Slc5a9
|
APN |
4 |
111,734,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-12-09 |
Incidental Mutation