Incidental Mutation 'R2865:Slc2a4'
| ID |
253176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc2a4
|
| Ensembl Gene |
ENSMUSG00000018566 |
| Gene Name |
solute carrier family 2 (facilitated glucose transporter), member 4 |
| Synonyms |
Glut4, Glut-4, twgy |
| MMRRC Submission |
040454-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.646)
|
| Stock # |
R2865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69833365-69839014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 69836942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 134
(S134F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018698]
[ENSMUST00000018710]
[ENSMUST00000108601]
[ENSMUST00000135437]
[ENSMUST00000141837]
[ENSMUST00000142500]
[ENSMUST00000179298]
[ENSMUST00000178363]
[ENSMUST00000149194]
|
| AlphaFold |
P14142 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018698
|
| SMART Domains |
Protein: ENSMUSP00000018698
Gene: ENSMUSG00000018554
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
82 |
N/A |
INTRINSIC |
|
CSP
|
96 |
164 |
2.54e-21 |
SMART |
|
low complexity region
|
173 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
220 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
274 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
317 |
339 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018710
AA Change: S134F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018710
Gene: ENSMUSG00000018566
AA Change: S134F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
24 |
436 |
3.9e-16 |
PFAM |
|
Pfam:Sugar_tr
|
27 |
483 |
1.7e-155 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108601
|
| SMART Domains |
Protein: ENSMUSP00000104242
Gene: ENSMUSG00000018554
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
19 |
87 |
2.54e-21 |
SMART |
|
low complexity region
|
96 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118013
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135437
AA Change: S42F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137092
Gene: ENSMUSG00000018566
AA Change: S42F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
1 |
57 |
5.3e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141837
AA Change: S134F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136806
Gene: ENSMUSG00000018566
AA Change: S134F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
24 |
438 |
4.7e-17 |
PFAM |
|
Pfam:Sugar_tr
|
26 |
453 |
6e-140 |
PFAM |
|
low complexity region
|
462 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142500
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178809
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179298
AA Change: S134F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136726
Gene: ENSMUSG00000018566
AA Change: S134F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
26 |
242 |
6.9e-65 |
PFAM |
|
Pfam:MFS_1
|
27 |
239 |
2e-10 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000152487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148395
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178363
|
| SMART Domains |
Protein: ENSMUSP00000136455
Gene: ENSMUSG00000018566
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4PYP|A
|
14 |
50 |
3e-10 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149194
|
| SMART Domains |
Protein: ENSMUSP00000136684
Gene: ENSMUSG00000018554
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
144 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6812 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (30/30) |
| 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 solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes impaired glucose metabolism in skeletal muscle and adipose tissue. Mice homozygous for a knock-out allele show premature death associated with cardiac hypertrophy, growth retardation, insulin resistance, reduced adipose tissue deposits, and muscle fatigue. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
G |
8: 12,329,635 (GRCm39) |
Q30R |
unknown |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Cic |
T |
A |
7: 24,972,646 (GRCm39) |
D792E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,537,343 (GRCm39) |
C192Y |
probably benign |
Het |
| Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,059,543 (GRCm39) |
K714R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,531,431 (GRCm39) |
Q844R |
possibly damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,170,117 (GRCm39) |
K495E |
probably benign |
Het |
| Gria2 |
C |
T |
3: 80,639,392 (GRCm39) |
V207I |
probably benign |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,905,611 (GRCm39) |
H2240R |
probably damaging |
Het |
| Ighv8-9 |
G |
A |
12: 115,432,066 (GRCm39) |
P82S |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,310,525 (GRCm39) |
V436A |
probably benign |
Het |
| Ldb3 |
T |
G |
14: 34,251,460 (GRCm39) |
D609A |
probably damaging |
Het |
| Lgalsl2 |
G |
T |
7: 5,362,668 (GRCm39) |
D100Y |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,335 (GRCm39) |
Q112K |
probably damaging |
Het |
| Marchf4 |
C |
T |
1: 72,491,734 (GRCm39) |
R179H |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,960,788 (GRCm39) |
T75A |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,198 (GRCm39) |
D34V |
probably benign |
Het |
| Or8h10 |
A |
T |
2: 86,808,805 (GRCm39) |
C112S |
possibly damaging |
Het |
| Parp4 |
C |
T |
14: 56,851,181 (GRCm39) |
T728M |
probably damaging |
Het |
| Ppp1r10 |
A |
G |
17: 36,239,384 (GRCm39) |
T398A |
possibly damaging |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,085,990 (GRCm39) |
G482D |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,991,765 (GRCm39) |
F388I |
probably benign |
Het |
| Slc12a6 |
G |
A |
2: 112,177,662 (GRCm39) |
V594I |
probably benign |
Het |
| Tead4 |
A |
T |
6: 128,225,062 (GRCm39) |
|
probably null |
Het |
| Usp40 |
G |
A |
1: 87,877,701 (GRCm39) |
Q1152* |
probably null |
Het |
|
| Other mutations in Slc2a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:Slc2a4
|
APN |
11 |
69,836,782 (GRCm39) |
splice site |
probably benign |
|
|
IGL01448:Slc2a4
|
APN |
11 |
69,835,902 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01593:Slc2a4
|
APN |
11 |
69,835,654 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02188:Slc2a4
|
APN |
11 |
69,837,156 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
IGL02738:Slc2a4
|
APN |
11 |
69,836,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0282:Slc2a4
|
UTSW |
11 |
69,837,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0317:Slc2a4
|
UTSW |
11 |
69,837,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0709:Slc2a4
|
UTSW |
11 |
69,836,985 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1598:Slc2a4
|
UTSW |
11 |
69,835,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1800:Slc2a4
|
UTSW |
11 |
69,837,133 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1885:Slc2a4
|
UTSW |
11 |
69,835,833 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1893:Slc2a4
|
UTSW |
11 |
69,837,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2439:Slc2a4
|
UTSW |
11 |
69,836,451 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2847:Slc2a4
|
UTSW |
11 |
69,836,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2849:Slc2a4
|
UTSW |
11 |
69,836,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3001:Slc2a4
|
UTSW |
11 |
69,836,751 (GRCm39) |
nonsense |
probably null |
|
|
R3002:Slc2a4
|
UTSW |
11 |
69,836,751 (GRCm39) |
nonsense |
probably null |
|
|
R4455:Slc2a4
|
UTSW |
11 |
69,834,148 (GRCm39) |
unclassified |
probably benign |
|
|
R4456:Slc2a4
|
UTSW |
11 |
69,834,148 (GRCm39) |
unclassified |
probably benign |
|
|
R4463:Slc2a4
|
UTSW |
11 |
69,834,148 (GRCm39) |
unclassified |
probably benign |
|
|
R4622:Slc2a4
|
UTSW |
11 |
69,835,600 (GRCm39) |
unclassified |
probably benign |
|
|
R4822:Slc2a4
|
UTSW |
11 |
69,837,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Slc2a4
|
UTSW |
11 |
69,837,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6348:Slc2a4
|
UTSW |
11 |
69,835,848 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7294:Slc2a4
|
UTSW |
11 |
69,836,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7315:Slc2a4
|
UTSW |
11 |
69,837,259 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7492:Slc2a4
|
UTSW |
11 |
69,837,202 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8060:Slc2a4
|
UTSW |
11 |
69,835,836 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9103:Slc2a4
|
UTSW |
11 |
69,836,218 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9416:Slc2a4
|
UTSW |
11 |
69,836,728 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9565:Slc2a4
|
UTSW |
11 |
69,837,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9582:Slc2a4
|
UTSW |
11 |
69,837,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0067:Slc2a4
|
UTSW |
11 |
69,835,082 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1186:Slc2a4
|
UTSW |
11 |
69,834,819 (GRCm39) |
frame shift |
probably null |
|
|
Z1186:Slc2a4
|
UTSW |
11 |
69,834,818 (GRCm39) |
unclassified |
probably benign |
|
|
Z1186:Slc2a4
|
UTSW |
11 |
69,834,817 (GRCm39) |
frame shift |
probably null |
|
|
Z1187:Slc2a4
|
UTSW |
11 |
69,834,819 (GRCm39) |
frame shift |
probably null |
|
|
Z1187:Slc2a4
|
UTSW |
11 |
69,834,818 (GRCm39) |
unclassified |
probably benign |
|
|
Z1188:Slc2a4
|
UTSW |
11 |
69,834,819 (GRCm39) |
frame shift |
probably null |
|
|
Z1188:Slc2a4
|
UTSW |
11 |
69,834,818 (GRCm39) |
unclassified |
probably benign |
|
|
Z1189:Slc2a4
|
UTSW |
11 |
69,834,819 (GRCm39) |
frame shift |
probably null |
|
|
Z1189:Slc2a4
|
UTSW |
11 |
69,834,818 (GRCm39) |
unclassified |
probably benign |
|
|
Z1190:Slc2a4
|
UTSW |
11 |
69,834,819 (GRCm39) |
frame shift |
probably null |
|
|
Z1191:Slc2a4
|
UTSW |
11 |
69,834,819 (GRCm39) |
frame shift |
probably null |
|
|
Z1191:Slc2a4
|
UTSW |
11 |
69,834,818 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCGATTTCTCCCACATAC -3'
(R):5'- GGCATCATTTCTCAATGGTTGG -3'
Sequencing Primer
(F):5'- ACCAGCCCTGATGTTAGCC -3'
(R):5'- CTCAATGGTTGGGAAGGTATGGAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation