Incidental Mutation 'R7105:Slc5a9'
| ID |
551094 |
| 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 |
045197-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R7105 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
111732571-111759993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111755892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 2
(N2S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102719]
[ENSMUST00000102720]
[ENSMUST00000102721]
[ENSMUST00000128340]
|
| AlphaFold |
Q8VDT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102719
AA Change: N2S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099780
Gene: ENSMUSG00000028544
AA Change: N2S
| 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 benign
Transcript: ENSMUST00000102720
AA Change: N2S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099781
Gene: ENSMUSG00000028544
AA Change: N2S
| 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 benign
Transcript: ENSMUST00000102721
AA Change: N2S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099782
Gene: ENSMUSG00000028544
AA Change: N2S
| 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 benign
Transcript: ENSMUST00000128340
|
| SMART Domains |
Protein: ENSMUSP00000120546
Gene: ENSMUSG00000028544
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SSF
|
23 |
255 |
9.3e-70 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
96% (65/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,347,842 (GRCm39) |
I3565N |
probably damaging |
Het |
| Adam8 |
T |
C |
7: 139,569,968 (GRCm39) |
E99G |
probably benign |
Het |
| Adnp2 |
A |
C |
18: 80,171,366 (GRCm39) |
H1014Q |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 111,423,920 (GRCm39) |
N315K |
probably benign |
Het |
| Ankrd33b |
G |
T |
15: 31,305,214 (GRCm39) |
N183K |
probably damaging |
Het |
| Arhgef39 |
A |
G |
4: 43,498,913 (GRCm39) |
S113P |
possibly damaging |
Het |
| Bdp1 |
G |
A |
13: 100,206,689 (GRCm39) |
P618S |
probably damaging |
Het |
| Bhlhe40 |
C |
T |
6: 108,641,997 (GRCm39) |
P314S |
possibly damaging |
Het |
| Birc2 |
A |
C |
9: 7,819,442 (GRCm39) |
I490S |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,149,516 (GRCm39) |
I698V |
probably benign |
Het |
| C4b |
G |
A |
17: 34,949,885 (GRCm39) |
T1433M |
possibly damaging |
Het |
| Car12 |
A |
G |
9: 66,659,688 (GRCm39) |
T238A |
probably damaging |
Het |
| Cend1 |
G |
A |
7: 141,007,565 (GRCm39) |
P85L |
probably benign |
Het |
| Cftr |
A |
T |
6: 18,318,971 (GRCm39) |
D1337V |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,309,491 (GRCm39) |
M248K |
probably damaging |
Het |
| Chtf8 |
A |
G |
8: 107,611,883 (GRCm39) |
F352S |
probably damaging |
Het |
| Cimip4 |
T |
A |
15: 78,270,318 (GRCm39) |
D150V |
possibly damaging |
Het |
| Csf2ra |
T |
C |
19: 61,213,458 (GRCm39) |
D384G |
possibly damaging |
Het |
| Ctnnbip1 |
T |
C |
4: 149,630,937 (GRCm39) |
S59P |
probably benign |
Het |
| Cyth3 |
A |
G |
5: 143,693,027 (GRCm39) |
N312D |
probably benign |
Het |
| Dtnb |
T |
C |
12: 3,698,391 (GRCm39) |
|
probably null |
Het |
| Duox2 |
A |
G |
2: 122,120,033 (GRCm39) |
S826P |
possibly damaging |
Het |
| Enthd1 |
C |
T |
15: 80,393,410 (GRCm39) |
A273T |
probably benign |
Het |
| Gm3138 |
T |
C |
14: 15,632,304 (GRCm39) |
V159A |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,701,638 (GRCm39) |
D632G |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,911,956 (GRCm39) |
C114S |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,105,097 (GRCm39) |
D765G |
probably damaging |
Het |
| Klf14 |
TCCCC |
TCCC |
6: 30,935,476 (GRCm39) |
|
probably null |
Het |
| Mapk12 |
G |
A |
15: 89,015,361 (GRCm39) |
P362L |
probably benign |
Het |
| Msi1 |
T |
G |
5: 115,571,929 (GRCm39) |
F96V |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 4,053,261 (GRCm39) |
V870A |
probably benign |
Het |
| Nfat5 |
T |
C |
8: 108,095,823 (GRCm39) |
S1355P |
possibly damaging |
Het |
| Oplah |
T |
C |
15: 76,181,887 (GRCm39) |
N1079D |
probably damaging |
Het |
| Or2ah1 |
G |
T |
2: 85,654,224 (GRCm39) |
R303M |
probably benign |
Het |
| Osbpl1a |
T |
A |
18: 12,900,020 (GRCm39) |
I645F |
probably benign |
Het |
| Pank4 |
T |
C |
4: 155,064,624 (GRCm39) |
S728P |
probably benign |
Het |
| Parp2 |
TTGCCATAAGTGCTAAATGAAGCC |
T |
14: 51,047,521 (GRCm39) |
|
probably null |
Het |
| Piezo1 |
A |
G |
8: 123,208,857 (GRCm39) |
I2503T |
unknown |
Het |
| Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
| Plekhs1 |
T |
A |
19: 56,465,647 (GRCm39) |
F204Y |
probably damaging |
Het |
| Pramel26 |
T |
C |
4: 143,537,341 (GRCm39) |
N330S |
probably benign |
Het |
| Pramel32 |
G |
A |
4: 88,548,339 (GRCm39) |
S22F |
probably damaging |
Het |
| Prep |
T |
A |
10: 45,002,159 (GRCm39) |
I438N |
probably benign |
Het |
| Prss58 |
T |
C |
6: 40,874,700 (GRCm39) |
H47R |
probably damaging |
Het |
| Rad51ap2 |
T |
G |
12: 11,508,278 (GRCm39) |
D733E |
possibly damaging |
Het |
| Robo1 |
A |
T |
16: 72,539,049 (GRCm39) |
I31F |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,377,328 (GRCm39) |
Y381C |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,233,269 (GRCm39) |
V87A |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,991,319 (GRCm39) |
D1024G |
probably damaging |
Het |
| Stat1 |
T |
G |
1: 52,190,408 (GRCm39) |
N554K |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,572,635 (GRCm39) |
D110G |
possibly damaging |
Het |
| Sult1c2 |
T |
A |
17: 54,280,917 (GRCm39) |
|
probably null |
Het |
| Taf5l |
A |
G |
8: 124,729,951 (GRCm39) |
I246T |
probably damaging |
Het |
| Tcof1 |
A |
T |
18: 60,976,368 (GRCm39) |
D80E |
probably damaging |
Het |
| Tmem233 |
T |
C |
5: 116,221,057 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,181 (GRCm39) |
E390G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,560,610 (GRCm39) |
T29264A |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,009,019 (GRCm39) |
T1065A |
|
Het |
| Vcp |
A |
G |
4: 42,985,991 (GRCm39) |
V341A |
probably damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,748 (GRCm39) |
L135* |
probably null |
Het |
| Vmn1r57 |
T |
A |
7: 5,223,499 (GRCm39) |
I8N |
probably damaging |
Het |
| Ythdc2 |
C |
T |
18: 44,967,630 (GRCm39) |
P209S |
probably damaging |
Het |
| Zfp213 |
A |
T |
17: 23,777,178 (GRCm39) |
V288D |
probably benign |
Het |
| Zfp362 |
T |
C |
4: 128,668,319 (GRCm39) |
I418V |
probably damaging |
Het |
| Zfp707 |
C |
A |
15: 75,846,595 (GRCm39) |
T215K |
|
Het |
| Zfp957 |
G |
C |
14: 79,450,402 (GRCm39) |
R466G |
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 |
|
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 |
|
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 |
|
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'- TGCCAGGCTTCAGCATTAC -3'
(R):5'- GGTCTATATAATGGCAGCAGGC -3'
Sequencing Primer
(F):5'- GCCAGGCTTCAGCATTACTTAATTC -3'
(R):5'- CAAGGTATGCAGGGGAAGGC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation