Incidental Mutation 'R9699:Slc5a4b'
ID |
729483 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc5a4b
|
Ensembl Gene |
ENSMUSG00000020226 |
Gene Name |
solute carrier family 5 (neutral amino acid transporters, system A), member 4b |
Synonyms |
SGLT3b, pSGLT2, 2010104G07Rik, SAAT1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R9699 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
75894452-75946852 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 75946674 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 33
(V33F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120757]
|
AlphaFold |
Q91ZP4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120757
AA Change: V33F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113582 Gene: ENSMUSG00000020226 AA Change: V33F
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
21 |
N/A |
INTRINSIC |
Pfam:SSF
|
58 |
492 |
1.4e-163 |
PFAM |
transmembrane domain
|
526 |
548 |
N/A |
INTRINSIC |
transmembrane domain
|
640 |
659 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700066M21Rik |
G |
T |
1: 57,416,927 (GRCm39) |
R33L |
probably benign |
Het |
Abhd16b |
A |
T |
2: 181,136,518 (GRCm39) |
R473S |
probably benign |
Het |
Adcyap1r1 |
A |
G |
6: 55,474,140 (GRCm39) |
D492G |
probably damaging |
Het |
Ano5 |
A |
T |
7: 51,229,309 (GRCm39) |
N617I |
probably damaging |
Het |
Cdh15 |
A |
G |
8: 123,588,769 (GRCm39) |
E281G |
probably benign |
Het |
Clasp2 |
T |
A |
9: 113,738,614 (GRCm39) |
|
probably null |
Het |
Dock8 |
G |
A |
19: 25,133,388 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
T |
C |
9: 45,654,315 (GRCm39) |
V1449A |
probably damaging |
Het |
Ercc6 |
A |
G |
14: 32,282,703 (GRCm39) |
D732G |
probably damaging |
Het |
Fam174c |
T |
A |
10: 80,010,161 (GRCm39) |
|
probably null |
Het |
Fhip2b |
A |
T |
14: 70,825,179 (GRCm39) |
S386T |
possibly damaging |
Het |
Gimap6 |
T |
C |
6: 48,684,951 (GRCm39) |
E45G |
probably benign |
Het |
Glt1d1 |
C |
A |
5: 127,771,364 (GRCm39) |
T285K |
probably damaging |
Het |
Gm14412 |
A |
T |
2: 177,007,636 (GRCm39) |
Y86* |
probably null |
Het |
Grip2 |
A |
G |
6: 91,742,318 (GRCm39) |
S912P |
probably benign |
Het |
Gucy2d |
T |
A |
7: 98,108,290 (GRCm39) |
I741N |
probably damaging |
Het |
Hrh2 |
A |
T |
13: 54,368,299 (GRCm39) |
N92Y |
probably damaging |
Het |
Klrc2 |
T |
A |
6: 129,637,452 (GRCm39) |
Q23L |
possibly damaging |
Het |
Patl2 |
T |
C |
2: 121,955,591 (GRCm39) |
D285G |
probably damaging |
Het |
Prpf40a |
A |
G |
2: 53,035,735 (GRCm39) |
V685A |
probably benign |
Het |
Rspry1 |
A |
G |
8: 95,380,857 (GRCm39) |
H511R |
probably benign |
Het |
Scarb1 |
G |
T |
5: 125,374,296 (GRCm39) |
A279E |
probably damaging |
Het |
Sell |
A |
G |
1: 163,893,114 (GRCm39) |
E110G |
probably damaging |
Het |
Sftpc |
A |
T |
14: 70,760,143 (GRCm39) |
I38N |
probably damaging |
Het |
Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
Smad7 |
A |
G |
18: 75,527,161 (GRCm39) |
S336G |
probably damaging |
Het |
Tnpo3 |
C |
T |
6: 29,565,768 (GRCm39) |
V529I |
probably benign |
Het |
Trafd1 |
A |
G |
5: 121,517,727 (GRCm39) |
V22A |
probably benign |
Het |
Tssk1 |
A |
G |
16: 17,712,545 (GRCm39) |
E110G |
probably damaging |
Het |
Vmn1r159 |
A |
T |
7: 22,542,675 (GRCm39) |
V119D |
probably damaging |
Het |
Vmn1r191 |
A |
G |
13: 22,363,355 (GRCm39) |
F133S |
probably benign |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
Zfp830 |
C |
T |
11: 82,655,805 (GRCm39) |
T203I |
possibly damaging |
Het |
Zw10 |
G |
T |
9: 48,966,942 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slc5a4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01348:Slc5a4b
|
APN |
10 |
75,906,422 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01433:Slc5a4b
|
APN |
10 |
75,906,329 (GRCm39) |
splice site |
probably benign |
|
IGL01754:Slc5a4b
|
APN |
10 |
75,906,449 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01904:Slc5a4b
|
APN |
10 |
75,896,260 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01990:Slc5a4b
|
APN |
10 |
75,896,188 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02211:Slc5a4b
|
APN |
10 |
75,896,297 (GRCm39) |
splice site |
probably benign |
|
IGL02254:Slc5a4b
|
APN |
10 |
75,896,264 (GRCm39) |
missense |
probably benign |
|
IGL02389:Slc5a4b
|
APN |
10 |
75,908,299 (GRCm39) |
nonsense |
probably null |
|
IGL02427:Slc5a4b
|
APN |
10 |
75,894,713 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02493:Slc5a4b
|
APN |
10 |
75,910,849 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02554:Slc5a4b
|
APN |
10 |
75,946,685 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02670:Slc5a4b
|
APN |
10 |
75,910,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R0254:Slc5a4b
|
UTSW |
10 |
75,906,462 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0285:Slc5a4b
|
UTSW |
10 |
75,898,117 (GRCm39) |
missense |
probably damaging |
0.99 |
R0294:Slc5a4b
|
UTSW |
10 |
75,917,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R0522:Slc5a4b
|
UTSW |
10 |
75,926,534 (GRCm39) |
missense |
probably damaging |
0.99 |
R0601:Slc5a4b
|
UTSW |
10 |
75,899,870 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0714:Slc5a4b
|
UTSW |
10 |
75,917,341 (GRCm39) |
missense |
probably benign |
0.09 |
R0975:Slc5a4b
|
UTSW |
10 |
75,917,241 (GRCm39) |
missense |
probably benign |
0.09 |
R1934:Slc5a4b
|
UTSW |
10 |
75,917,307 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2339:Slc5a4b
|
UTSW |
10 |
75,944,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R2886:Slc5a4b
|
UTSW |
10 |
75,910,907 (GRCm39) |
missense |
probably damaging |
0.98 |
R3552:Slc5a4b
|
UTSW |
10 |
75,917,358 (GRCm39) |
missense |
probably damaging |
0.99 |
R3890:Slc5a4b
|
UTSW |
10 |
75,898,094 (GRCm39) |
missense |
probably benign |
0.01 |
R4012:Slc5a4b
|
UTSW |
10 |
75,910,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R4259:Slc5a4b
|
UTSW |
10 |
75,939,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R4260:Slc5a4b
|
UTSW |
10 |
75,939,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R4471:Slc5a4b
|
UTSW |
10 |
75,894,725 (GRCm39) |
nonsense |
probably null |
|
R4667:Slc5a4b
|
UTSW |
10 |
75,910,879 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4846:Slc5a4b
|
UTSW |
10 |
75,898,073 (GRCm39) |
missense |
probably damaging |
0.99 |
R4939:Slc5a4b
|
UTSW |
10 |
75,917,301 (GRCm39) |
missense |
probably benign |
0.44 |
R5181:Slc5a4b
|
UTSW |
10 |
75,896,221 (GRCm39) |
nonsense |
probably null |
|
R5319:Slc5a4b
|
UTSW |
10 |
75,898,233 (GRCm39) |
missense |
probably benign |
0.08 |
R6306:Slc5a4b
|
UTSW |
10 |
75,917,185 (GRCm39) |
missense |
probably benign |
0.01 |
R6422:Slc5a4b
|
UTSW |
10 |
75,939,696 (GRCm39) |
missense |
probably damaging |
0.97 |
R6837:Slc5a4b
|
UTSW |
10 |
75,898,220 (GRCm39) |
missense |
possibly damaging |
0.49 |
R6997:Slc5a4b
|
UTSW |
10 |
75,925,812 (GRCm39) |
missense |
probably damaging |
0.97 |
R7140:Slc5a4b
|
UTSW |
10 |
75,910,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R7527:Slc5a4b
|
UTSW |
10 |
75,946,742 (GRCm39) |
missense |
probably benign |
0.01 |
R7683:Slc5a4b
|
UTSW |
10 |
75,899,906 (GRCm39) |
missense |
probably damaging |
0.96 |
R7718:Slc5a4b
|
UTSW |
10 |
75,906,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R7794:Slc5a4b
|
UTSW |
10 |
75,898,133 (GRCm39) |
missense |
probably benign |
0.19 |
R7877:Slc5a4b
|
UTSW |
10 |
75,910,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R8150:Slc5a4b
|
UTSW |
10 |
75,939,680 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8843:Slc5a4b
|
UTSW |
10 |
75,910,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R9111:Slc5a4b
|
UTSW |
10 |
75,925,827 (GRCm39) |
splice site |
probably benign |
|
R9163:Slc5a4b
|
UTSW |
10 |
75,917,165 (GRCm39) |
nonsense |
probably null |
|
R9195:Slc5a4b
|
UTSW |
10 |
75,898,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R9600:Slc5a4b
|
UTSW |
10 |
75,896,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R9643:Slc5a4b
|
UTSW |
10 |
75,945,896 (GRCm39) |
missense |
probably benign |
0.01 |
R9656:Slc5a4b
|
UTSW |
10 |
75,944,391 (GRCm39) |
missense |
probably damaging |
0.98 |
X0019:Slc5a4b
|
UTSW |
10 |
75,946,685 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTGCCTTAGGAATGAGCCC -3'
(R):5'- GCCTGAGGGTTGATCATTAATCC -3'
Sequencing Primer
(F):5'- TAGGAATGAGCCCACTGTGCATTAC -3'
(R):5'- GGGTTGATCATTAATCCAGTGCCTAC -3'
|
Posted On |
2022-10-06 |