Incidental Mutation 'IGL02971:Slc5a9'
| ID |
365815 |
| 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 # |
IGL02971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
111732571-111759993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111747497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 297
(I297V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099782
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102719]
[ENSMUST00000102720]
[ENSMUST00000102721]
[ENSMUST00000128340]
|
| AlphaFold |
Q8VDT1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102719
AA Change: I297V
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099780
Gene: ENSMUSG00000028544
AA Change: I297V
| 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 |
possibly damaging
Transcript: ENSMUST00000102720
AA Change: I297V
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099781
Gene: ENSMUSG00000028544
AA Change: I297V
| 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 |
possibly damaging
Transcript: ENSMUST00000102721
AA Change: I297V
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099782
Gene: ENSMUSG00000028544
AA Change: I297V
| 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
AA Change: I212V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000120546
Gene: ENSMUSG00000028544
AA Change: I212V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
23 |
255 |
9.3e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131772
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149922
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930018P22Rik |
C |
T |
2: 103,953,564 (GRCm39) |
T130I |
probably benign |
Het |
| Ahi1 |
T |
C |
10: 20,876,450 (GRCm39) |
L787P |
possibly damaging |
Het |
| Atf3 |
A |
G |
1: 190,909,640 (GRCm39) |
S10P |
probably benign |
Het |
| Cdr2l |
A |
G |
11: 115,281,726 (GRCm39) |
N77S |
probably damaging |
Het |
| Cnp |
A |
G |
11: 100,467,525 (GRCm39) |
D156G |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,145,894 (GRCm39) |
D982E |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,878,587 (GRCm39) |
L190S |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,777,325 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,384,607 (GRCm39) |
D3117G |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 67,994,558 (GRCm39) |
E1834G |
probably null |
Het |
| Eea1 |
A |
G |
10: 95,877,389 (GRCm39) |
T1368A |
probably benign |
Het |
| Fam83f |
T |
C |
15: 80,556,350 (GRCm39) |
V78A |
probably benign |
Het |
| Fcgbp |
G |
A |
7: 27,800,898 (GRCm39) |
V1315I |
probably damaging |
Het |
| Fsd2 |
A |
T |
7: 81,198,671 (GRCm39) |
Y364* |
probably null |
Het |
| Gm21976 |
G |
A |
13: 98,439,057 (GRCm39) |
G16R |
probably null |
Het |
| Guca2b |
A |
G |
4: 119,514,885 (GRCm39) |
S59P |
probably damaging |
Het |
| Hars2 |
A |
G |
18: 36,919,231 (GRCm39) |
E123G |
probably damaging |
Het |
| Hdac2 |
A |
T |
10: 36,876,370 (GRCm39) |
K462* |
probably null |
Het |
| Huwe1 |
T |
A |
X: 150,710,622 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,997,611 (GRCm39) |
N262K |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,719,826 (GRCm39) |
S1502G |
probably damaging |
Het |
| Mapkapk3 |
A |
T |
9: 107,134,279 (GRCm39) |
D328E |
probably benign |
Het |
| Naca |
C |
T |
10: 127,877,437 (GRCm39) |
|
probably benign |
Het |
| Npffr1 |
T |
C |
10: 61,449,918 (GRCm39) |
V64A |
probably damaging |
Het |
| Oga |
A |
G |
19: 45,750,682 (GRCm39) |
F671S |
probably damaging |
Het |
| Or2t49 |
A |
G |
11: 58,393,211 (GRCm39) |
L57P |
probably damaging |
Het |
| Or8b3b |
T |
A |
9: 38,584,564 (GRCm39) |
M72L |
probably damaging |
Het |
| Pcca |
A |
G |
14: 123,126,945 (GRCm39) |
D718G |
probably damaging |
Het |
| Pde6a |
A |
C |
18: 61,397,326 (GRCm39) |
D670A |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,320,417 (GRCm39) |
E292V |
probably benign |
Het |
| Prmt9 |
A |
C |
8: 78,291,698 (GRCm39) |
M357L |
probably benign |
Het |
| Ptgfr |
A |
T |
3: 151,540,963 (GRCm39) |
S182T |
probably benign |
Het |
| Rtraf |
A |
T |
14: 19,866,260 (GRCm39) |
M152K |
possibly damaging |
Het |
| Satb1 |
T |
C |
17: 52,049,717 (GRCm39) |
D579G |
possibly damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,115,453 (GRCm39) |
|
probably null |
Het |
| Slf1 |
T |
A |
13: 77,195,223 (GRCm39) |
|
probably benign |
Het |
| St8sia2 |
C |
T |
7: 73,616,559 (GRCm39) |
V139M |
probably damaging |
Het |
| Tas2r114 |
T |
C |
6: 131,666,243 (GRCm39) |
M262V |
probably benign |
Het |
| Tmem147 |
A |
G |
7: 30,428,847 (GRCm39) |
|
probably benign |
Het |
| Tmem220 |
A |
G |
11: 66,924,933 (GRCm39) |
|
probably null |
Het |
| Uspl1 |
A |
G |
5: 149,125,156 (GRCm39) |
N35S |
possibly damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
possibly damaging |
Het |
| Vmn2r121 |
T |
G |
X: 123,037,591 (GRCm39) |
I810L |
probably damaging |
Het |
| Wbp2nl |
A |
T |
15: 82,189,945 (GRCm39) |
T46S |
possibly damaging |
Het |
| Zfp955b |
T |
A |
17: 33,519,940 (GRCm39) |
M57K |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation