Incidental Mutation 'R9111:Slc5a4b'
ID |
723516 |
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 |
068971-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R9111 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
75894452-75946852 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 75925827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120757]
|
AlphaFold |
Q91ZP4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000120757
|
SMART Domains |
Protein: ENSMUSP00000113582 Gene: ENSMUSG00000020226
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
T |
C |
8: 124,696,646 (GRCm39) |
N210S |
|
Het |
Adamts17 |
A |
G |
7: 66,489,648 (GRCm39) |
D22G |
probably damaging |
Het |
Aldh3b1 |
T |
C |
19: 3,971,797 (GRCm39) |
E58G |
probably damaging |
Het |
Atg2a |
G |
A |
19: 6,311,534 (GRCm39) |
A1830T |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,966,340 (GRCm39) |
V4118A |
probably damaging |
Het |
Ccdc28a |
G |
A |
10: 18,100,750 (GRCm39) |
P73S |
possibly damaging |
Het |
Cdc42bpb |
A |
T |
12: 111,284,903 (GRCm39) |
D771E |
probably benign |
Het |
Cdk14 |
G |
A |
5: 5,315,985 (GRCm39) |
P13S |
possibly damaging |
Het |
Cdr2 |
G |
A |
7: 120,559,345 (GRCm39) |
S158F |
possibly damaging |
Het |
Cfap44 |
A |
T |
16: 44,252,326 (GRCm39) |
T812S |
probably benign |
Het |
Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
Cp |
A |
T |
3: 20,027,949 (GRCm39) |
I452F |
probably damaging |
Het |
Dcdc2c |
T |
A |
12: 28,585,488 (GRCm39) |
I2F |
probably damaging |
Het |
Dlat |
G |
A |
9: 50,570,906 (GRCm39) |
|
probably benign |
Het |
Dock1 |
A |
G |
7: 134,601,017 (GRCm39) |
D984G |
possibly damaging |
Het |
Dsc2 |
T |
C |
18: 20,167,764 (GRCm39) |
I710V |
probably benign |
Het |
Eif4e |
A |
G |
3: 138,252,122 (GRCm39) |
E20G |
probably benign |
Het |
Fbxw16 |
T |
C |
9: 109,265,679 (GRCm39) |
Y380C |
probably damaging |
Het |
Fscn3 |
A |
G |
6: 28,430,310 (GRCm39) |
D160G |
probably damaging |
Het |
Gm9195 |
G |
A |
14: 72,694,123 (GRCm39) |
Q1531* |
probably null |
Het |
Hps3 |
T |
C |
3: 20,084,575 (GRCm39) |
|
probably null |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Igsf1 |
C |
T |
X: 48,875,736 (GRCm39) |
E755K |
probably null |
Het |
Kalrn |
A |
G |
16: 34,181,371 (GRCm39) |
V89A |
probably damaging |
Het |
Kcng1 |
C |
A |
2: 168,104,535 (GRCm39) |
G437V |
probably damaging |
Het |
Krt82 |
C |
T |
15: 101,451,786 (GRCm39) |
R343Q |
probably benign |
Het |
Lbr |
T |
C |
1: 181,645,068 (GRCm39) |
D528G |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,406,819 (GRCm39) |
E256G |
probably damaging |
Het |
Mier2 |
T |
C |
10: 79,381,285 (GRCm39) |
|
probably benign |
Het |
Mmp9 |
T |
A |
2: 164,792,726 (GRCm39) |
|
probably null |
Het |
Myrf |
A |
G |
19: 10,191,421 (GRCm39) |
|
probably null |
Het |
Ncor1 |
T |
A |
11: 62,280,585 (GRCm39) |
T82S |
possibly damaging |
Het |
Or4c107 |
G |
A |
2: 88,789,055 (GRCm39) |
V82I |
probably benign |
Het |
P2rx6 |
G |
T |
16: 17,385,627 (GRCm39) |
W176L |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,454,657 (GRCm39) |
E108G |
probably damaging |
Het |
Pik3c2a |
A |
G |
7: 115,993,531 (GRCm39) |
V412A |
probably damaging |
Het |
Prkd2 |
A |
G |
7: 16,584,131 (GRCm39) |
E328G |
probably benign |
Het |
Prmt1 |
A |
C |
7: 44,631,169 (GRCm39) |
V114G |
probably damaging |
Het |
Rnf133 |
G |
A |
6: 23,648,928 (GRCm39) |
H334Y |
probably benign |
Het |
Rps18-ps5 |
T |
A |
13: 28,441,626 (GRCm39) |
L3Q |
probably damaging |
Het |
Secisbp2l |
A |
G |
2: 125,602,206 (GRCm39) |
S385P |
probably benign |
Het |
Sel1l3 |
A |
T |
5: 53,279,213 (GRCm39) |
|
probably benign |
Het |
Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
Sfpq |
CCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGC |
4: 126,915,401 (GRCm39) |
|
probably benign |
Het |
Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
Slc9a3 |
A |
G |
13: 74,298,920 (GRCm39) |
Y113C |
probably damaging |
Het |
Ugt3a1 |
T |
C |
15: 9,306,333 (GRCm39) |
F161L |
possibly damaging |
Het |
Zhx2 |
T |
C |
15: 57,685,984 (GRCm39) |
I451T |
probably damaging |
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 |
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 |
R9699:Slc5a4b
|
UTSW |
10 |
75,946,674 (GRCm39) |
missense |
probably damaging |
0.99 |
X0019:Slc5a4b
|
UTSW |
10 |
75,946,685 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTAAAACCAGGAGGCAACATTAC -3'
(R):5'- TCCACCAGTAATTCACAGAACTTTG -3'
Sequencing Primer
(F):5'- CCAGGAGGCAACATTACAGAAC -3'
(R):5'- CACAGAACTTTGTATCTCAGTGAGAC -3'
|
Posted On |
2022-08-15 |