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 |