Incidental Mutation 'R4889:Slc5a9'
| ID |
377188 |
| 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 |
042494-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4889 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
111732571-111759993 bp(-) (GRCm39) |
| Type of Mutation |
splice site (43 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 111748941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102719]
[ENSMUST00000102720]
[ENSMUST00000102721]
[ENSMUST00000128340]
|
| AlphaFold |
Q8VDT1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000102719
|
| SMART Domains |
Protein: ENSMUSP00000099780
Gene: ENSMUSG00000028544
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099781
Gene: ENSMUSG00000028544
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099782
Gene: ENSMUSG00000028544
| 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
|
| SMART Domains |
Protein: ENSMUSP00000120546
Gene: ENSMUSG00000028544
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
23 |
255 |
9.3e-70 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131772
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149922
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
G |
C |
10: 67,384,135 (GRCm39) |
R157G |
probably benign |
Het |
| Akap12 |
C |
A |
10: 4,306,535 (GRCm39) |
A1115E |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,711,787 (GRCm39) |
M196V |
probably null |
Het |
| Appl2 |
G |
A |
10: 83,476,922 (GRCm39) |
T34I |
probably damaging |
Het |
| Arhgap21 |
T |
C |
2: 20,885,279 (GRCm39) |
S472G |
probably benign |
Het |
| Asmt |
G |
T |
X: 169,110,764 (GRCm39) |
R250L |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,767,070 (GRCm39) |
I870N |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,871,700 (GRCm39) |
Q667R |
possibly damaging |
Het |
| Cercam |
A |
G |
2: 29,771,845 (GRCm39) |
D555G |
probably damaging |
Het |
| Cop1 |
A |
T |
1: 159,112,159 (GRCm39) |
R284S |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,858,893 (GRCm39) |
V9A |
possibly damaging |
Het |
| Ctsm |
A |
G |
13: 61,686,215 (GRCm39) |
F106S |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,356,895 (GRCm39) |
L118Q |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,235,938 (GRCm39) |
C355F |
probably benign |
Het |
| Dock1 |
C |
A |
7: 134,346,705 (GRCm39) |
N212K |
probably benign |
Het |
| Efemp2 |
T |
A |
19: 5,525,148 (GRCm39) |
L18Q |
probably null |
Het |
| Flvcr1 |
A |
G |
1: 190,757,764 (GRCm39) |
L176P |
probably damaging |
Het |
| Gm16505 |
A |
T |
13: 3,411,125 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6457 |
A |
T |
18: 14,703,501 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
A |
G |
10: 88,269,775 (GRCm39) |
N826S |
probably benign |
Het |
| Hdc |
T |
G |
2: 126,436,053 (GRCm39) |
N606T |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,127 (GRCm39) |
D113G |
probably benign |
Het |
| Maml3 |
C |
T |
3: 51,601,931 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
A |
T |
6: 39,396,939 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,723,238 (GRCm39) |
V720A |
probably damaging |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,447 (GRCm39) |
|
probably null |
Het |
| Npat |
T |
C |
9: 53,473,507 (GRCm39) |
I433T |
probably benign |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Or10ag53 |
A |
T |
2: 87,082,991 (GRCm39) |
I237F |
probably damaging |
Het |
| Or1l4 |
A |
G |
2: 37,092,057 (GRCm39) |
Y268C |
probably damaging |
Het |
| Or5m12 |
C |
T |
2: 85,735,092 (GRCm39) |
C102Y |
possibly damaging |
Het |
| Pde6c |
T |
A |
19: 38,121,599 (GRCm39) |
M69K |
probably benign |
Het |
| Pde7b |
T |
C |
10: 20,423,823 (GRCm39) |
T18A |
probably benign |
Het |
| Plcz1 |
T |
C |
6: 139,953,474 (GRCm39) |
K381R |
probably benign |
Het |
| Ppfia4 |
A |
C |
1: 134,228,252 (GRCm39) |
F1095V |
probably damaging |
Het |
| Sfxn3 |
T |
C |
19: 45,038,254 (GRCm39) |
F78S |
probably damaging |
Het |
| Sim1 |
A |
T |
10: 50,857,420 (GRCm39) |
Y390F |
probably benign |
Het |
| Slc25a31 |
A |
G |
3: 40,675,975 (GRCm39) |
I174V |
probably benign |
Het |
| Slco1b2 |
T |
G |
6: 141,602,469 (GRCm39) |
|
probably benign |
Het |
| Smarca5 |
C |
A |
8: 81,431,326 (GRCm39) |
D964Y |
possibly damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,779,458 (GRCm39) |
S338R |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,137,719 (GRCm39) |
V1023A |
possibly damaging |
Het |
| Syt16 |
A |
G |
12: 74,176,269 (GRCm39) |
E46G |
probably damaging |
Het |
| Tas2r114 |
A |
T |
6: 131,666,758 (GRCm39) |
I90K |
probably damaging |
Het |
| Tlx1 |
G |
T |
19: 45,139,418 (GRCm39) |
D22Y |
probably damaging |
Het |
| Vamp8 |
G |
A |
6: 72,362,522 (GRCm39) |
L93F |
possibly damaging |
Het |
| Vill |
T |
C |
9: 118,892,409 (GRCm39) |
S347P |
possibly damaging |
Het |
| Zfp974 |
A |
G |
7: 27,610,244 (GRCm39) |
Y494H |
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 |
|
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'- TGTACAACTCATCCTCAGCAGG -3'
(R):5'- GGGTGCTGACTTTCTACAGAC -3'
Sequencing Primer
(F):5'- AGCAGGACCCCATGTCTCTC -3'
(R):5'- ACAGACTGATATCTTCTCTGGAGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation