Incidental Mutation 'R0659:Slc5a9'
ID |
61776 |
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 |
038844-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R0659 (G1)
|
Quality Score |
175 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
111732571-111759993 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 111741068 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 526
(Y526F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099782
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102719]
[ENSMUST00000102720]
[ENSMUST00000102721]
|
AlphaFold |
Q8VDT1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102719
AA Change: Y526F
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099780 Gene: ENSMUSG00000028544 AA Change: Y526F
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: Y526F
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099781 Gene: ENSMUSG00000028544 AA Change: Y526F
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: Y526F
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000099782 Gene: ENSMUSG00000028544 AA Change: Y526F
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
|
Meta Mutation Damage Score |
0.1400 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.6%
|
Validation Efficiency |
99% (72/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
A |
G |
18: 59,140,565 (GRCm39) |
|
probably benign |
Het |
Ahnak |
A |
G |
19: 8,992,366 (GRCm39) |
H4550R |
possibly damaging |
Het |
Anxa6 |
A |
G |
11: 54,874,173 (GRCm39) |
V591A |
probably damaging |
Het |
Apol7c |
A |
G |
15: 77,410,473 (GRCm39) |
S158P |
probably damaging |
Het |
Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,322,067 (GRCm39) |
|
probably benign |
Het |
Cd109 |
T |
C |
9: 78,587,452 (GRCm39) |
|
probably benign |
Het |
Cep78 |
C |
T |
19: 15,933,554 (GRCm39) |
V675M |
probably damaging |
Het |
Ces4a |
T |
C |
8: 105,871,554 (GRCm39) |
|
probably benign |
Het |
Chpf |
A |
G |
1: 75,454,367 (GRCm39) |
V137A |
probably damaging |
Het |
Comp |
T |
C |
8: 70,831,751 (GRCm39) |
S457P |
possibly damaging |
Het |
Cth |
A |
G |
3: 157,625,752 (GRCm39) |
|
probably benign |
Het |
Cyp2a12 |
T |
C |
7: 26,733,563 (GRCm39) |
L314P |
probably damaging |
Het |
Ets1 |
C |
T |
9: 32,649,589 (GRCm39) |
R309C |
probably damaging |
Het |
Foxp2 |
T |
C |
6: 15,254,278 (GRCm39) |
|
probably benign |
Het |
Gm9875 |
T |
G |
2: 13,562,995 (GRCm39) |
F108V |
unknown |
Het |
Golga5 |
G |
T |
12: 102,442,467 (GRCm39) |
V269F |
possibly damaging |
Het |
Greb1 |
T |
C |
12: 16,730,213 (GRCm39) |
Y1738C |
probably damaging |
Het |
Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
Hdac5 |
A |
T |
11: 102,086,850 (GRCm39) |
V70E |
probably damaging |
Het |
Hdac9 |
T |
C |
12: 34,487,221 (GRCm39) |
Q60R |
probably damaging |
Het |
Hsd17b3 |
T |
C |
13: 64,221,750 (GRCm39) |
T92A |
possibly damaging |
Het |
Itpk1 |
C |
T |
12: 102,572,337 (GRCm39) |
|
probably benign |
Het |
Lin28a |
T |
C |
4: 133,735,410 (GRCm39) |
|
probably benign |
Het |
Mapk6 |
T |
C |
9: 75,305,244 (GRCm39) |
S58G |
probably damaging |
Het |
Mmp21 |
G |
A |
7: 133,279,396 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
Mroh2a |
G |
A |
1: 88,178,064 (GRCm39) |
D1053N |
probably damaging |
Het |
Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
Mto1 |
T |
A |
9: 78,364,790 (GRCm39) |
I343N |
probably damaging |
Het |
Mto1 |
C |
T |
9: 78,378,072 (GRCm39) |
T638M |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,908,193 (GRCm39) |
K2027E |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,703,545 (GRCm39) |
|
probably benign |
Het |
Nlrp9a |
T |
C |
7: 26,256,703 (GRCm39) |
I107T |
probably damaging |
Het |
Or5k17 |
C |
A |
16: 58,746,772 (GRCm39) |
R54L |
possibly damaging |
Het |
Or8g37 |
T |
G |
9: 39,731,112 (GRCm39) |
M59R |
possibly damaging |
Het |
Osbpl5 |
A |
G |
7: 143,258,767 (GRCm39) |
S268P |
probably damaging |
Het |
Pih1d1 |
T |
A |
7: 44,809,399 (GRCm39) |
S289T |
probably benign |
Het |
Pik3c2b |
A |
G |
1: 132,998,938 (GRCm39) |
D353G |
probably damaging |
Het |
Ppef2 |
A |
G |
5: 92,378,368 (GRCm39) |
L609P |
probably damaging |
Het |
Prune2 |
A |
T |
19: 17,100,199 (GRCm39) |
D1901V |
probably damaging |
Het |
Rdh9 |
T |
C |
10: 127,612,444 (GRCm39) |
Y31H |
possibly damaging |
Het |
Slitrk5 |
A |
G |
14: 111,918,121 (GRCm39) |
K582E |
probably benign |
Het |
Sult1c2 |
A |
T |
17: 54,138,806 (GRCm39) |
M257K |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,624,448 (GRCm39) |
D1834G |
probably damaging |
Het |
Tmem132d |
A |
G |
5: 128,061,351 (GRCm39) |
I417T |
possibly damaging |
Het |
Tmem229b |
T |
C |
12: 79,011,908 (GRCm39) |
T8A |
probably benign |
Het |
Tmem237 |
T |
C |
1: 59,153,253 (GRCm39) |
I89M |
possibly damaging |
Het |
Tnfrsf17 |
A |
T |
16: 11,137,683 (GRCm39) |
D140V |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,807,647 (GRCm39) |
|
probably benign |
Het |
Trio |
A |
G |
15: 27,831,485 (GRCm39) |
L194P |
probably damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,605,122 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
A |
9: 67,828,217 (GRCm39) |
M1457K |
probably benign |
Het |
Zfhx2 |
A |
G |
14: 55,311,258 (GRCm39) |
C479R |
possibly damaging |
Het |
Zfp420 |
T |
A |
7: 29,574,964 (GRCm39) |
C395S |
probably damaging |
Het |
Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
Het |
Zfp82 |
C |
T |
7: 29,755,754 (GRCm39) |
E443K |
probably damaging |
Het |
Zranb2 |
A |
G |
3: 157,247,400 (GRCm39) |
S193G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATCCAGCAGGATGTAACCCAACG -3'
(R):5'- CAAGTCATCTCTGAAGCTCAGCCC -3'
Sequencing Primer
(F):5'- ATGTAACCCAACGGACGG -3'
(R):5'- tctcccccaactcatccc -3'
|
Posted On |
2013-07-30 |