Incidental Mutation 'R4405:Slc5a11'
| ID |
327621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc5a11
|
| Ensembl Gene |
ENSMUSG00000030769 |
| Gene Name |
solute carrier family 5 (sodium/glucose cotransporter), member 11 |
| Synonyms |
2010013B02Rik, Kst1 |
| MMRRC Submission |
041134-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4405 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
122814003-122872476 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122857700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 263
(D263V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033035]
[ENSMUST00000131933]
[ENSMUST00000167299]
|
| AlphaFold |
Q8K0E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033035
AA Change: D263V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033035
Gene: ENSMUSG00000030769
AA Change: D263V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
58 |
487 |
2.2e-143 |
PFAM |
|
transmembrane domain
|
521 |
543 |
N/A |
INTRINSIC |
|
transmembrane domain
|
653 |
672 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131933
AA Change: D263V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121459
Gene: ENSMUSG00000030769
AA Change: D263V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
58 |
402 |
1.2e-111 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167299
AA Change: D263V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127977
Gene: ENSMUSG00000030769
AA Change: D263V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
42 |
N/A |
INTRINSIC |
|
Pfam:SSF
|
58 |
487 |
2.2e-143 |
PFAM |
|
transmembrane domain
|
521 |
543 |
N/A |
INTRINSIC |
|
transmembrane domain
|
653 |
672 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
C |
T |
8: 95,763,536 (GRCm39) |
A279V |
probably benign |
Het |
| Aggf1 |
G |
A |
13: 95,508,102 (GRCm39) |
P88L |
probably benign |
Het |
| Asb18 |
T |
C |
1: 89,896,411 (GRCm39) |
T210A |
probably benign |
Het |
| Cd8b1 |
C |
T |
6: 71,303,006 (GRCm39) |
S27L |
possibly damaging |
Het |
| Cfap43 |
C |
T |
19: 47,728,236 (GRCm39) |
S1507N |
possibly damaging |
Het |
| Col12a1 |
A |
T |
9: 79,547,247 (GRCm39) |
|
probably null |
Het |
| Col19a1 |
G |
A |
1: 24,573,190 (GRCm39) |
T194M |
unknown |
Het |
| Cpb1 |
T |
A |
3: 20,317,733 (GRCm39) |
T237S |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,470,841 (GRCm39) |
T517M |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,106,274 (GRCm39) |
N1769S |
probably benign |
Het |
| Dnm1 |
A |
G |
2: 32,225,984 (GRCm39) |
I365T |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,668,823 (GRCm39) |
D238E |
probably benign |
Het |
| Etv6 |
A |
G |
6: 134,210,497 (GRCm39) |
E115G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gapvd1 |
C |
T |
2: 34,618,747 (GRCm39) |
V209I |
probably damaging |
Het |
| Gbp8 |
G |
A |
5: 105,198,928 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
| Grb14 |
T |
C |
2: 64,783,966 (GRCm39) |
N54D |
probably damaging |
Het |
| Gucy2g |
A |
T |
19: 55,226,269 (GRCm39) |
F216I |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,820,225 (GRCm39) |
L2849Q |
probably damaging |
Het |
| Hsd17b4 |
G |
T |
18: 50,261,381 (GRCm39) |
|
probably benign |
Het |
| Igkv9-129 |
T |
A |
6: 67,816,784 (GRCm39) |
M3K |
probably damaging |
Het |
| Iqcd |
A |
T |
5: 120,740,485 (GRCm39) |
E272V |
probably damaging |
Het |
| Itih2 |
A |
T |
2: 10,111,548 (GRCm39) |
Y463* |
probably null |
Het |
| Kcna10 |
G |
A |
3: 107,102,781 (GRCm39) |
E471K |
possibly damaging |
Het |
| Klf3 |
A |
T |
5: 64,986,347 (GRCm39) |
E294V |
possibly damaging |
Het |
| Lancl1 |
A |
T |
1: 67,060,015 (GRCm39) |
|
probably null |
Het |
| Ldaf1 |
T |
G |
7: 119,714,714 (GRCm39) |
F68V |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 125,846,877 (GRCm39) |
F882L |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,046,367 (GRCm39) |
N474S |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,922,444 (GRCm39) |
|
probably null |
Het |
| Mast1 |
C |
A |
8: 85,647,520 (GRCm39) |
W572C |
probably damaging |
Het |
| Mbd4 |
T |
A |
6: 115,826,076 (GRCm39) |
Q305L |
possibly damaging |
Het |
| Mbl2 |
T |
A |
19: 30,216,916 (GRCm39) |
S243T |
probably benign |
Het |
| Mcph1 |
C |
T |
8: 18,682,557 (GRCm39) |
P565S |
probably benign |
Het |
| Mfsd1 |
G |
C |
3: 67,507,943 (GRCm39) |
V435L |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,360,881 (GRCm39) |
G1183D |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Noa1 |
A |
T |
5: 77,454,219 (GRCm39) |
S474T |
probably benign |
Het |
| Nrde2 |
A |
G |
12: 100,096,843 (GRCm39) |
Y986H |
probably benign |
Het |
| Oca2 |
G |
T |
7: 56,064,182 (GRCm39) |
V726F |
possibly damaging |
Het |
| Or2ag13 |
T |
A |
7: 106,472,580 (GRCm39) |
S291C |
probably damaging |
Het |
| Or7a41 |
A |
T |
10: 78,871,244 (GRCm39) |
M205L |
probably benign |
Het |
| Pip5k1a |
A |
G |
3: 94,975,370 (GRCm39) |
|
probably null |
Het |
| Plekhn1 |
A |
T |
4: 156,309,730 (GRCm39) |
|
probably null |
Het |
| Sec61a2 |
T |
C |
2: 5,887,670 (GRCm39) |
D104G |
probably benign |
Het |
| Skic3 |
A |
T |
13: 76,303,784 (GRCm39) |
Y1234F |
probably damaging |
Het |
| Slc25a36 |
T |
C |
9: 96,967,171 (GRCm39) |
T131A |
probably benign |
Het |
| Sorbs1 |
T |
C |
19: 40,384,189 (GRCm39) |
I35V |
probably benign |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,331,013 (GRCm39) |
V64A |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r20 |
A |
G |
6: 57,409,042 (GRCm39) |
M123V |
probably benign |
Het |
| Zwint |
T |
C |
10: 72,492,095 (GRCm39) |
L59P |
probably damaging |
Het |
|
| Other mutations in Slc5a11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00715:Slc5a11
|
APN |
7 |
122,849,397 (GRCm39) |
missense |
probably null |
0.72 |
|
IGL01670:Slc5a11
|
APN |
7 |
122,869,172 (GRCm39) |
missense |
probably benign |
|
|
IGL01960:Slc5a11
|
APN |
7 |
122,869,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02512:Slc5a11
|
APN |
7 |
122,864,478 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02637:Slc5a11
|
APN |
7 |
122,859,728 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02680:Slc5a11
|
APN |
7 |
122,864,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03185:Slc5a11
|
APN |
7 |
122,864,412 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0454:Slc5a11
|
UTSW |
7 |
122,864,458 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0894:Slc5a11
|
UTSW |
7 |
122,857,643 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1501:Slc5a11
|
UTSW |
7 |
122,859,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1879:Slc5a11
|
UTSW |
7 |
122,838,671 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2185:Slc5a11
|
UTSW |
7 |
122,872,421 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2880:Slc5a11
|
UTSW |
7 |
122,838,595 (GRCm39) |
frame shift |
probably null |
|
|
R2882:Slc5a11
|
UTSW |
7 |
122,838,595 (GRCm39) |
frame shift |
probably null |
|
|
R2919:Slc5a11
|
UTSW |
7 |
122,838,595 (GRCm39) |
frame shift |
probably null |
|
|
R3012:Slc5a11
|
UTSW |
7 |
122,838,595 (GRCm39) |
frame shift |
probably null |
|
|
R4307:Slc5a11
|
UTSW |
7 |
122,869,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4510:Slc5a11
|
UTSW |
7 |
122,834,858 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4511:Slc5a11
|
UTSW |
7 |
122,834,858 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4599:Slc5a11
|
UTSW |
7 |
122,857,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4660:Slc5a11
|
UTSW |
7 |
122,864,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Slc5a11
|
UTSW |
7 |
122,851,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6641:Slc5a11
|
UTSW |
7 |
122,837,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6694:Slc5a11
|
UTSW |
7 |
122,867,012 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7078:Slc5a11
|
UTSW |
7 |
122,857,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7580:Slc5a11
|
UTSW |
7 |
122,864,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8088:Slc5a11
|
UTSW |
7 |
122,864,951 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8139:Slc5a11
|
UTSW |
7 |
122,869,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8302:Slc5a11
|
UTSW |
7 |
122,847,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Slc5a11
|
UTSW |
7 |
122,866,975 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9156:Slc5a11
|
UTSW |
7 |
122,864,492 (GRCm39) |
nonsense |
probably null |
|
|
R9358:Slc5a11
|
UTSW |
7 |
122,857,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9364:Slc5a11
|
UTSW |
7 |
122,868,324 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9370:Slc5a11
|
UTSW |
7 |
122,834,855 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Slc5a11
|
UTSW |
7 |
122,838,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCTTGCCATGGGGTTCTG -3'
(R):5'- CAGCTCTAGATCCACCATTAGC -3'
Sequencing Primer
(F):5'- GGCAGTCTTAGGCTTCCTCTG -3'
(R):5'- AGCTCTAGATCCACCATTAGCATTTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation