Incidental Mutation 'R8851:Slc5a9'
| ID |
674992 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
111732571-111759993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111755790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 36
(V36E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102719]
[ENSMUST00000102720]
[ENSMUST00000102721]
[ENSMUST00000128340]
|
| AlphaFold |
Q8VDT1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102719
AA Change: V36E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099780
Gene: ENSMUSG00000028544
AA Change: V36E
| 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 damaging
Transcript: ENSMUST00000102720
AA Change: V36E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099781
Gene: ENSMUSG00000028544
AA Change: V36E
| 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 damaging
Transcript: ENSMUST00000102721
AA Change: V36E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099782
Gene: ENSMUSG00000028544
AA Change: V36E
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
T |
A |
1: 173,159,683 (GRCm39) |
I279F |
probably benign |
Het |
| Adamts7 |
A |
G |
9: 90,075,163 (GRCm39) |
N965S |
probably benign |
Het |
| Adgrl3 |
A |
G |
5: 81,613,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,691,535 (GRCm39) |
Y1142C |
probably damaging |
Het |
| Apoa4 |
A |
G |
9: 46,153,906 (GRCm39) |
K169R |
probably benign |
Het |
| Cd22 |
T |
A |
7: 30,577,084 (GRCm39) |
K74N |
probably benign |
Het |
| Defa39 |
T |
A |
8: 22,193,555 (GRCm39) |
I22F |
possibly damaging |
Het |
| Dgcr2 |
G |
A |
16: 17,690,507 (GRCm39) |
T41I |
possibly damaging |
Het |
| Dicer1 |
A |
G |
12: 104,690,300 (GRCm39) |
V245A |
possibly damaging |
Het |
| Dop1b |
T |
A |
16: 93,559,398 (GRCm39) |
S715T |
probably benign |
Het |
| Epb41l1 |
A |
T |
2: 156,364,431 (GRCm39) |
H980L |
probably benign |
Het |
| Erc2 |
A |
T |
14: 28,039,216 (GRCm39) |
E973V |
probably null |
Het |
| Fam124b |
T |
A |
1: 80,190,882 (GRCm39) |
Q167L |
probably damaging |
Het |
| Frmpd2 |
A |
G |
14: 33,217,643 (GRCm39) |
E46G |
probably damaging |
Het |
| Gabrb2 |
G |
A |
11: 42,312,186 (GRCm39) |
V4I |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,256,922 (GRCm39) |
N841K |
probably damaging |
Het |
| Gnpat |
A |
G |
8: 125,601,004 (GRCm39) |
H161R |
probably damaging |
Het |
| Gpd2 |
A |
T |
2: 57,197,062 (GRCm39) |
M206L |
possibly damaging |
Het |
| Grid2ip |
T |
C |
5: 143,348,352 (GRCm39) |
F148L |
possibly damaging |
Het |
| Hemk1 |
A |
G |
9: 107,213,412 (GRCm39) |
V128A |
probably benign |
Het |
| Ism1 |
G |
T |
2: 139,591,465 (GRCm39) |
S273I |
probably damaging |
Het |
| Kcnab3 |
G |
T |
11: 69,218,990 (GRCm39) |
|
probably null |
Het |
| Kdm6b |
A |
G |
11: 69,291,993 (GRCm39) |
Y1430H |
unknown |
Het |
| Lama2 |
A |
G |
10: 27,242,119 (GRCm39) |
V279A |
possibly damaging |
Het |
| Lmf1 |
G |
A |
17: 25,804,680 (GRCm39) |
W119* |
probably null |
Het |
| Lrrc42 |
A |
G |
4: 107,096,375 (GRCm39) |
V276A |
probably benign |
Het |
| Magi2 |
T |
C |
5: 20,270,618 (GRCm39) |
F163L |
probably damaging |
Het |
| Map2k2 |
A |
G |
10: 80,955,097 (GRCm39) |
K196R |
probably damaging |
Het |
| Mfsd11 |
C |
A |
11: 116,752,479 (GRCm39) |
D209E |
probably benign |
Het |
| Muc1 |
C |
A |
3: 89,138,425 (GRCm39) |
F422L |
probably benign |
Het |
| Muc13 |
A |
G |
16: 33,631,273 (GRCm39) |
H391R |
probably benign |
Het |
| Mxi1 |
G |
A |
19: 53,360,126 (GRCm39) |
G283S |
probably damaging |
Het |
| Nfatc2ip |
T |
C |
7: 125,986,617 (GRCm39) |
Q346R |
probably damaging |
Het |
| Or8g2b |
A |
G |
9: 39,751,600 (GRCm39) |
Y290C |
probably damaging |
Het |
| Otol1 |
T |
A |
3: 69,935,299 (GRCm39) |
D430E |
probably damaging |
Het |
| Pcdh1 |
T |
C |
18: 38,325,155 (GRCm39) |
E929G |
probably damaging |
Het |
| Pip4p2 |
T |
C |
4: 14,912,491 (GRCm39) |
M200T |
possibly damaging |
Het |
| Plekhf1 |
C |
T |
7: 37,921,466 (GRCm39) |
R34H |
probably damaging |
Het |
| Plekhm2 |
A |
T |
4: 141,358,639 (GRCm39) |
V622E |
probably benign |
Het |
| Pomt2 |
G |
A |
12: 87,184,838 (GRCm39) |
T196I |
probably damaging |
Het |
| Ppp1r12c |
C |
T |
7: 4,487,703 (GRCm39) |
G436D |
probably damaging |
Het |
| Prss50 |
A |
G |
9: 110,687,081 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
A |
G |
17: 45,900,402 (GRCm39) |
I176T |
probably damaging |
Het |
| Slc7a1 |
A |
C |
5: 148,285,093 (GRCm39) |
S133R |
probably damaging |
Het |
| Sox17 |
A |
G |
1: 4,562,073 (GRCm39) |
Y376H |
probably benign |
Het |
| Spata4 |
T |
C |
8: 55,062,935 (GRCm39) |
I280T |
probably benign |
Het |
| Svop |
T |
A |
5: 114,192,557 (GRCm39) |
I187F |
probably damaging |
Het |
| Tas2r103 |
T |
A |
6: 133,013,896 (GRCm39) |
I57F |
|
Het |
| Tead3 |
A |
G |
17: 28,551,704 (GRCm39) |
V463A |
probably damaging |
Het |
| Tenm4 |
G |
C |
7: 96,501,710 (GRCm39) |
G1305R |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,900,677 (GRCm39) |
F594L |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,334,573 (GRCm39) |
T419A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,593,090 (GRCm39) |
I254V |
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,487,219 (GRCm39) |
M559V |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,643,437 (GRCm39) |
H358Q |
probably null |
Het |
| Zcwpw1 |
A |
C |
5: 137,820,626 (GRCm39) |
D597A |
probably damaging |
Het |
| Zfp318 |
A |
T |
17: 46,710,761 (GRCm39) |
Y828F |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,032,194 (GRCm39) |
N582I |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGTATCAGCTACCTTTGG -3'
(R):5'- AGGACTCCTCCCTTTCTCGAAG -3'
Sequencing Primer
(F):5'- ATCAGCTACCTTTGGTTGGGCTC -3'
(R):5'- TCTCGAAGGCTAATCATACTTGG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation