Incidental Mutation 'R3552:Slc5a4b'
| ID |
269003 |
| 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 |
040669-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R3552 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75894452-75946852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75917358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 226
(V226A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120757]
|
| AlphaFold |
Q91ZP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120757
AA Change: V226A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113582
Gene: ENSMUSG00000020226
AA Change: V226A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124320
|
| Meta Mutation Damage Score |
0.5090 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,152,450 (GRCm39) |
Y866N |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,371,615 (GRCm39) |
T371A |
probably benign |
Het |
| Akna |
T |
C |
4: 63,316,361 (GRCm39) |
M1V |
probably null |
Het |
| Aldh7a1 |
T |
C |
18: 56,683,364 (GRCm39) |
|
probably null |
Het |
| Ankrd26 |
A |
T |
6: 118,484,737 (GRCm39) |
L1500H |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,129,584 (GRCm39) |
D452V |
probably damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,167,598 (GRCm39) |
T1333M |
possibly damaging |
Het |
| Carmil3 |
G |
T |
14: 55,744,859 (GRCm39) |
R1276L |
possibly damaging |
Het |
| Ccni |
T |
C |
5: 93,335,620 (GRCm39) |
S173G |
probably benign |
Het |
| Chrm2 |
A |
T |
6: 36,500,745 (GRCm39) |
I201F |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,970,834 (GRCm39) |
T618A |
probably benign |
Het |
| Dele1 |
A |
G |
18: 38,391,418 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,611,787 (GRCm39) |
Y192C |
probably benign |
Het |
| Ep400 |
T |
A |
5: 110,877,153 (GRCm39) |
E821V |
unknown |
Het |
| Esrrg |
G |
A |
1: 187,882,387 (GRCm39) |
V215I |
probably benign |
Het |
| Evx1 |
A |
T |
6: 52,293,908 (GRCm39) |
S359C |
probably damaging |
Het |
| Fcrl2 |
A |
G |
3: 87,166,717 (GRCm39) |
I92T |
possibly damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,110 (GRCm39) |
F106I |
possibly damaging |
Het |
| Gm9944 |
T |
C |
4: 144,179,613 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hrc |
G |
C |
7: 44,985,757 (GRCm39) |
E303Q |
possibly damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,921,074 (GRCm39) |
N118D |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,614,584 (GRCm39) |
I323T |
possibly damaging |
Het |
| Klhdc7b |
T |
C |
15: 89,271,724 (GRCm39) |
Y869H |
probably benign |
Het |
| Lrrc4c |
T |
A |
2: 97,460,306 (GRCm39) |
W311R |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,602,745 (GRCm39) |
D862G |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,415,072 (GRCm39) |
T2673A |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,421,442 (GRCm39) |
S4311G |
probably benign |
Het |
| Myo15a |
C |
T |
11: 60,400,489 (GRCm39) |
A1767V |
possibly damaging |
Het |
| Neo1 |
T |
A |
9: 58,801,161 (GRCm39) |
K1140M |
probably damaging |
Het |
| Oc90 |
T |
C |
15: 65,750,650 (GRCm39) |
Q365R |
possibly damaging |
Het |
| Oplah |
C |
T |
15: 76,186,294 (GRCm39) |
D734N |
possibly damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,678 (GRCm39) |
I44V |
probably benign |
Het |
| Or4c58 |
A |
C |
2: 89,674,687 (GRCm39) |
M210R |
possibly damaging |
Het |
| Or9g3 |
T |
C |
2: 85,590,237 (GRCm39) |
N161S |
possibly damaging |
Het |
| Pbx1 |
G |
A |
1: 167,986,362 (GRCm39) |
P411L |
possibly damaging |
Het |
| Pcdhga6 |
G |
T |
18: 37,841,270 (GRCm39) |
R330L |
probably benign |
Het |
| Phox2b |
C |
A |
5: 67,254,999 (GRCm39) |
R150L |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,172,848 (GRCm39) |
E169G |
probably damaging |
Het |
| Ptprn2 |
A |
T |
12: 116,852,497 (GRCm39) |
Q518L |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,037,505 (GRCm39) |
I214K |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,756,422 (GRCm39) |
Q3464L |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,582,132 (GRCm39) |
I2854F |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 58,963,470 (GRCm39) |
Y615C |
probably benign |
Het |
| Sirt5 |
A |
T |
13: 43,536,643 (GRCm39) |
N226Y |
probably damaging |
Het |
| Slc30a3 |
G |
A |
5: 31,252,422 (GRCm39) |
|
probably benign |
Het |
| Slf2 |
C |
A |
19: 44,923,390 (GRCm39) |
S68* |
probably null |
Het |
| Smyd5 |
G |
A |
6: 85,419,193 (GRCm39) |
E292K |
probably damaging |
Het |
| Spns1 |
A |
G |
7: 125,969,543 (GRCm39) |
V512A |
possibly damaging |
Het |
| Sry |
T |
A |
Y: 2,663,141 (GRCm39) |
Q173L |
unknown |
Het |
| Ssrp1 |
C |
A |
2: 84,874,736 (GRCm39) |
Q519K |
probably benign |
Het |
| Tgfbr3 |
T |
C |
5: 107,287,705 (GRCm39) |
E498G |
probably damaging |
Het |
| Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,937,695 (GRCm39) |
E3861D |
probably damaging |
Het |
| Trbc1 |
G |
T |
6: 41,516,579 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
T |
A |
2: 126,668,630 (GRCm39) |
|
probably benign |
Het |
| Usp39 |
G |
A |
6: 72,314,815 (GRCm39) |
T197I |
possibly damaging |
Het |
| Vmn1r38 |
T |
C |
6: 66,753,477 (GRCm39) |
H213R |
possibly damaging |
Het |
| Washc2 |
A |
G |
6: 116,197,529 (GRCm39) |
D168G |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,382,720 (GRCm39) |
I45V |
probably benign |
Het |
| Zfp352 |
A |
G |
4: 90,113,339 (GRCm39) |
E493G |
probably benign |
Het |
| Zfp692 |
C |
T |
11: 58,200,254 (GRCm39) |
T170I |
possibly damaging |
Het |
| Zfp735 |
C |
A |
11: 73,602,067 (GRCm39) |
S337* |
probably null |
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 |
|
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 |
|
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'- TGTGCAAATGTCGATGCTCAC -3'
(R):5'- AATCTATCATGGACAATCCCAAAGG -3'
Sequencing Primer
(F):5'- AAATGTCGATGCTCACCTGATCG -3'
(R):5'- AGGCATACTCGGACCATTGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation