Incidental Mutation 'R6837:Slc5a4b'
| ID |
537902 |
| 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 |
044945-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6837 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75894452-75946852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75898220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 498
(I498N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120757]
|
| AlphaFold |
Q91ZP4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120757
AA Change: I498N
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: I498N
| 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 |
0.1988 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
G |
A |
12: 53,188,045 (GRCm39) |
E1820K |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,814,511 (GRCm39) |
I116F |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,122,289 (GRCm39) |
D890G |
probably benign |
Het |
| Aup1 |
C |
T |
6: 83,034,279 (GRCm39) |
T396I |
possibly damaging |
Het |
| C2cd3 |
G |
C |
7: 100,097,953 (GRCm39) |
E594Q |
probably damaging |
Het |
| Colgalt2 |
C |
T |
1: 152,382,579 (GRCm39) |
P477L |
probably damaging |
Het |
| Dennd3 |
G |
A |
15: 73,429,542 (GRCm39) |
D20N |
probably damaging |
Het |
| Dpysl3 |
A |
G |
18: 43,570,947 (GRCm39) |
I109T |
probably benign |
Het |
| Fas |
A |
T |
19: 34,284,564 (GRCm39) |
T24S |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,874,832 (GRCm39) |
I2332F |
probably damaging |
Het |
| Gm10267 |
T |
C |
18: 44,291,375 (GRCm39) |
H32R |
probably benign |
Het |
| Gm57859 |
A |
G |
11: 113,579,439 (GRCm39) |
H278R |
possibly damaging |
Het |
| Hcfc2 |
A |
T |
10: 82,575,030 (GRCm39) |
I230F |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,337,463 (GRCm39) |
T673A |
probably benign |
Het |
| Herc2 |
T |
G |
7: 55,839,589 (GRCm39) |
N3366K |
possibly damaging |
Het |
| Hhla1 |
T |
C |
15: 65,820,334 (GRCm39) |
N139D |
probably damaging |
Het |
| Hip1r |
A |
G |
5: 124,136,928 (GRCm39) |
E632G |
possibly damaging |
Het |
| Kcnc2 |
A |
G |
10: 112,294,407 (GRCm39) |
D98G |
probably damaging |
Het |
| Maip1 |
T |
A |
1: 57,454,891 (GRCm39) |
*292K |
probably null |
Het |
| Map2 |
T |
C |
1: 66,453,731 (GRCm39) |
F874L |
probably damaging |
Het |
| Myof |
A |
T |
19: 37,911,404 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 97,978,170 (GRCm39) |
|
probably null |
Het |
| Npy5r |
T |
A |
8: 67,134,392 (GRCm39) |
M134L |
probably benign |
Het |
| Ntsr2 |
T |
A |
12: 16,709,710 (GRCm39) |
M225K |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,847,527 (GRCm39) |
T634I |
probably damaging |
Het |
| Or51f1d |
T |
A |
7: 102,700,929 (GRCm39) |
Y141* |
probably null |
Het |
| Pcsk5 |
T |
C |
19: 17,416,448 (GRCm39) |
S1667G |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,599,527 (GRCm39) |
I328T |
possibly damaging |
Het |
| Pkd2 |
T |
G |
5: 104,624,909 (GRCm39) |
L235W |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,156,292 (GRCm39) |
D66V |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,622,044 (GRCm39) |
N105S |
probably benign |
Het |
| Sla |
A |
T |
15: 66,658,939 (GRCm39) |
I144N |
probably damaging |
Het |
| Snx14 |
C |
T |
9: 88,262,276 (GRCm39) |
E872K |
probably benign |
Het |
| Stx16 |
G |
A |
2: 173,935,795 (GRCm39) |
R242H |
probably benign |
Het |
| Tg |
T |
C |
15: 66,567,984 (GRCm39) |
F1296S |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
G |
A |
6: 97,153,542 (GRCm39) |
T177M |
possibly damaging |
Het |
| Tuba4a |
T |
C |
1: 75,194,038 (GRCm39) |
Q14R |
probably damaging |
Het |
| Vmn2r114 |
T |
C |
17: 23,529,176 (GRCm39) |
M309V |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,817,504 (GRCm39) |
P1059S |
probably benign |
Het |
| Yars1 |
T |
A |
4: 129,103,544 (GRCm39) |
S298T |
possibly 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 |
|
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 |
|
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'- AACATCAGGAATCGGCTCC -3'
(R):5'- CAGAGTTCTGGGGTTCAAAAC -3'
Sequencing Primer
(F):5'- ACATCAGGAATCGGCTCCGTTAG -3'
(R):5'- AAGTTACGGGCACTTACTGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation