Incidental Mutation 'R2161:Slc5a10'
| ID |
235165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a10
|
| Ensembl Gene |
ENSMUSG00000042371 |
| Gene Name |
solute carrier family 5 (sodium/glucose cotransporter), member 10 |
| Synonyms |
SGLT5, C330021F16Rik |
| MMRRC Submission |
040164-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R2161 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
61563608-61611641 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61610760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 5
(G5R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051552]
[ENSMUST00000148584]
[ENSMUST00000151780]
|
| AlphaFold |
Q5SWY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051552
AA Change: G7R
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371
AA Change: G7R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
50 |
479 |
2.4e-139 |
PFAM |
|
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
576 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128196
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000148584
AA Change: G7R
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371
AA Change: G7R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
50 |
479 |
2.4e-139 |
PFAM |
|
transmembrane domain
|
513 |
535 |
N/A |
INTRINSIC |
|
transmembrane domain
|
576 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151780
AA Change: G5R
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371
AA Change: G5R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
48 |
185 |
3.5e-44 |
PFAM |
|
Pfam:SSF
|
182 |
450 |
5e-79 |
PFAM |
|
transmembrane domain
|
484 |
506 |
N/A |
INTRINSIC |
|
transmembrane domain
|
547 |
566 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired fructose reabsorption in the kidneys and exacerbated hepatic steatosis induced by fructose. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
G |
15: 11,215,821 (GRCm39) |
M281V |
probably damaging |
Het |
| Ap1g1 |
A |
T |
8: 110,570,986 (GRCm39) |
D423V |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,968,030 (GRCm39) |
|
probably null |
Het |
| Arhgap33 |
T |
C |
7: 30,228,075 (GRCm39) |
|
probably null |
Het |
| Arhgef18 |
T |
G |
8: 3,489,575 (GRCm39) |
Y302* |
probably null |
Het |
| Blm |
T |
C |
7: 80,131,118 (GRCm39) |
|
probably null |
Het |
| Cep295 |
T |
G |
9: 15,264,354 (GRCm39) |
E97D |
probably damaging |
Het |
| Cep295nl |
T |
C |
11: 118,223,335 (GRCm39) |
D503G |
possibly damaging |
Het |
| Chchd2 |
G |
T |
5: 129,912,989 (GRCm39) |
A29E |
probably damaging |
Het |
| Cic |
A |
G |
7: 24,987,559 (GRCm39) |
|
probably null |
Het |
| Cmtr1 |
C |
T |
17: 29,921,147 (GRCm39) |
L798F |
probably benign |
Het |
| Col11a2 |
C |
A |
17: 34,283,771 (GRCm39) |
|
probably benign |
Het |
| Crispld2 |
A |
G |
8: 120,742,078 (GRCm39) |
Y142C |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dsp |
G |
A |
13: 38,380,427 (GRCm39) |
D1792N |
probably damaging |
Het |
| Esp4 |
C |
A |
17: 40,913,284 (GRCm39) |
N50K |
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,133,451 (GRCm39) |
S404P |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,725,259 (GRCm39) |
F639L |
probably benign |
Het |
| Golph3l |
G |
A |
3: 95,524,436 (GRCm39) |
G229D |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,459,838 (GRCm39) |
S433R |
probably benign |
Het |
| Kdm2b |
T |
A |
5: 123,018,762 (GRCm39) |
S233C |
probably damaging |
Het |
| Krt14 |
C |
T |
11: 100,097,939 (GRCm39) |
G115R |
unknown |
Het |
| Ldb3 |
A |
G |
14: 34,289,353 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
T |
A |
10: 127,391,607 (GRCm39) |
E2937D |
probably damaging |
Het |
| Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
| Naa20 |
T |
A |
2: 145,753,715 (GRCm39) |
|
probably null |
Het |
| Ndufa8 |
A |
T |
2: 35,926,527 (GRCm39) |
W170R |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,328,041 (GRCm39) |
L671I |
probably damaging |
Het |
| Or52e19b |
T |
A |
7: 103,032,407 (GRCm39) |
R267S |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,673 (GRCm39) |
I214K |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptpro |
A |
G |
6: 137,426,885 (GRCm39) |
D280G |
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,972,031 (GRCm39) |
E361G |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,138,578 (GRCm39) |
E304G |
probably damaging |
Het |
| Siglece |
T |
C |
7: 43,308,793 (GRCm39) |
T187A |
probably benign |
Het |
| Sohlh1 |
A |
G |
2: 25,734,648 (GRCm39) |
I215T |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,771,648 (GRCm39) |
V691D |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tmed8 |
A |
G |
12: 87,221,031 (GRCm39) |
V185A |
probably damaging |
Het |
| Trim71 |
A |
G |
9: 114,341,840 (GRCm39) |
F814S |
probably damaging |
Het |
| Trmt9b |
T |
C |
8: 36,972,804 (GRCm39) |
C85R |
probably damaging |
Het |
| Tsnax |
A |
T |
8: 125,742,428 (GRCm39) |
K52N |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,682,292 (GRCm39) |
T676A |
probably benign |
Het |
|
| Other mutations in Slc5a10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01360:Slc5a10
|
APN |
11 |
61,605,962 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02215:Slc5a10
|
APN |
11 |
61,564,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02354:Slc5a10
|
APN |
11 |
61,610,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02361:Slc5a10
|
APN |
11 |
61,610,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02573:Slc5a10
|
APN |
11 |
61,563,898 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02712:Slc5a10
|
APN |
11 |
61,598,632 (GRCm39) |
nonsense |
probably null |
|
|
R1535:Slc5a10
|
UTSW |
11 |
61,564,767 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1659:Slc5a10
|
UTSW |
11 |
61,567,070 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1698:Slc5a10
|
UTSW |
11 |
61,600,428 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4948:Slc5a10
|
UTSW |
11 |
61,610,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5686:Slc5a10
|
UTSW |
11 |
61,569,392 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5689:Slc5a10
|
UTSW |
11 |
61,598,710 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7398:Slc5a10
|
UTSW |
11 |
61,564,405 (GRCm39) |
missense |
probably benign |
|
|
R7769:Slc5a10
|
UTSW |
11 |
61,564,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8234:Slc5a10
|
UTSW |
11 |
61,564,107 (GRCm39) |
missense |
probably benign |
|
|
R8257:Slc5a10
|
UTSW |
11 |
61,605,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Slc5a10
|
UTSW |
11 |
61,564,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTAGTGTTCAGGCAGCAG -3'
(R):5'- TACCCCTGCAGAGCAAAAGG -3'
Sequencing Primer
(F):5'- TAGTGTTCAGGCAGCAGACCAC -3'
(R):5'- GCAAAAGGAGACCTATCTGTGCTTTG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation