Incidental Mutation 'R9506:Slc5a9'
| ID |
717817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a9
|
| Ensembl Gene |
ENSMUSG00000028544 |
| Gene Name |
solute carrier family 5 (sodium/glucose cotransporter), member 9 |
| Synonyms |
SGLT4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R9506 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
111732571-111759993 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 111750439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 140
(R140*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102719]
[ENSMUST00000102720]
[ENSMUST00000102721]
[ENSMUST00000128340]
|
| AlphaFold |
Q8VDT1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102719
AA Change: R140*
|
| SMART Domains |
Protein: ENSMUSP00000099780
Gene: ENSMUSG00000028544
AA Change: R140*
| 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 null
Transcript: ENSMUST00000102720
AA Change: R140*
|
| SMART Domains |
Protein: ENSMUSP00000099781
Gene: ENSMUSG00000028544
AA Change: R140*
| 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 null
Transcript: ENSMUST00000102721
AA Change: R140*
|
| SMART Domains |
Protein: ENSMUSP00000099782
Gene: ENSMUSG00000028544
AA Change: R140*
| 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 null
Transcript: ENSMUST00000128340
AA Change: R55*
|
| SMART Domains |
Protein: ENSMUSP00000120546
Gene: ENSMUSG00000028544
AA Change: R55*
| 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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,437,773 (GRCm39) |
T632A |
unknown |
Het |
| Atp2b1 |
T |
C |
10: 98,858,862 (GRCm39) |
S1182P |
probably benign |
Het |
| Best3 |
T |
A |
10: 116,839,826 (GRCm39) |
F225I |
probably damaging |
Het |
| Camk1g |
A |
G |
1: 193,030,363 (GRCm39) |
|
probably null |
Het |
| Cdc42bpb |
G |
A |
12: 111,261,372 (GRCm39) |
P1656S |
probably benign |
Het |
| Cflar |
A |
T |
1: 58,791,975 (GRCm39) |
Q426L |
|
Het |
| Chrna9 |
T |
A |
5: 66,128,213 (GRCm39) |
D140E |
probably damaging |
Het |
| Cmpk2 |
A |
G |
12: 26,519,850 (GRCm39) |
D167G |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,250,023 (GRCm39) |
L985P |
probably damaging |
Het |
| Cutal |
A |
G |
2: 34,775,894 (GRCm39) |
D75G |
probably null |
Het |
| Dnah12 |
G |
T |
14: 26,514,168 (GRCm39) |
V1776F |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,119,299 (GRCm39) |
V1528A |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,287,912 (GRCm39) |
D16G |
probably damaging |
Het |
| Ermard |
T |
A |
17: 15,281,368 (GRCm39) |
L593M |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,024,950 (GRCm39) |
D274G |
probably benign |
Het |
| Gabrg1 |
C |
T |
5: 70,939,713 (GRCm39) |
V140M |
probably damaging |
Het |
| Glrx2 |
C |
T |
1: 143,622,270 (GRCm39) |
R89* |
probably null |
Het |
| Gsta3 |
A |
C |
1: 21,327,586 (GRCm39) |
D40A |
possibly damaging |
Het |
| H4c3 |
C |
T |
13: 23,882,264 (GRCm39) |
G57S |
probably benign |
Het |
| Hsf2 |
G |
A |
10: 57,381,241 (GRCm39) |
|
probably null |
Het |
| Ifi203 |
A |
G |
1: 173,751,565 (GRCm39) |
S833P |
possibly damaging |
Het |
| Ilk |
T |
C |
7: 105,390,020 (GRCm39) |
Y132H |
probably benign |
Het |
| Jup |
G |
A |
11: 100,267,704 (GRCm39) |
R540C |
probably damaging |
Het |
| Kdm7a |
T |
A |
6: 39,126,305 (GRCm39) |
H560L |
probably benign |
Het |
| Kynu |
T |
A |
2: 43,571,414 (GRCm39) |
N443K |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,162,919 (GRCm39) |
S1134P |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,503,918 (GRCm39) |
D331G |
probably benign |
Het |
| Mtfmt |
C |
T |
9: 65,343,147 (GRCm39) |
R18C |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,877,831 (GRCm39) |
Q1584R |
possibly damaging |
Het |
| Nup210 |
G |
A |
6: 91,048,856 (GRCm39) |
P467S |
possibly damaging |
Het |
| Nxf1 |
A |
G |
19: 8,749,508 (GRCm39) |
Y135C |
probably damaging |
Het |
| Or4a67 |
T |
C |
2: 88,597,840 (GRCm39) |
Y273C |
probably damaging |
Het |
| Rab11fip3 |
T |
G |
17: 26,213,250 (GRCm39) |
E853A |
probably damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,305,266 (GRCm39) |
M313T |
probably damaging |
Het |
| Rims2 |
G |
A |
15: 39,335,832 (GRCm39) |
V814I |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,319,384 (GRCm39) |
|
probably null |
Het |
| Slc36a3 |
A |
G |
11: 55,039,457 (GRCm39) |
I57T |
probably benign |
Het |
| Tas2r131 |
T |
A |
6: 132,934,024 (GRCm39) |
T262S |
possibly damaging |
Het |
| Tigd3 |
G |
T |
19: 5,942,860 (GRCm39) |
A90D |
probably damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,638,461 (GRCm39) |
M217V |
possibly damaging |
Het |
| Ube3d |
A |
G |
9: 86,330,825 (GRCm39) |
I119T |
probably damaging |
Het |
| Vcp |
A |
G |
4: 42,983,383 (GRCm39) |
V559A |
probably damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,963 (GRCm39) |
I66N |
probably damaging |
Het |
| Vmn1r234 |
T |
G |
17: 21,449,503 (GRCm39) |
I139S |
probably benign |
Het |
| Vmn2r105 |
C |
T |
17: 20,429,404 (GRCm39) |
M557I |
probably benign |
Het |
| Wnt7b |
A |
G |
15: 85,465,613 (GRCm39) |
S22P |
unknown |
Het |
| Zfp850 |
C |
A |
7: 27,688,987 (GRCm39) |
R407L |
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 |
|
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 |
|
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'- CTGAGGTCATGTGGATCCATG -3'
(R):5'- GGGCTCTCCAACACAACATG -3'
Sequencing Primer
(F):5'- AACCCTCATTTCATTCAAAAATGC -3'
(R):5'- GCTATCCTTAGGTAGAAAGTTGCTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation