Incidental Mutation 'R6626:Slc16a4'
| ID |
524793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc16a4
|
| Ensembl Gene |
ENSMUSG00000027896 |
| Gene Name |
solute carrier family 16 (monocarboxylic acid transporters), member 4 |
| Synonyms |
|
| MMRRC Submission |
044748-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6626 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107198546-107219431 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107208512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 341
(A341T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029502]
[ENSMUST00000106723]
|
| AlphaFold |
Q8R0M8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029502
AA Change: A341T
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: A341T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
27 |
373 |
8.2e-26 |
PFAM |
|
Pfam:MFS_1
|
305 |
499 |
2e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106723
AA Change: A341T
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: A341T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
27 |
375 |
2.1e-28 |
PFAM |
|
Pfam:MFS_1
|
327 |
462 |
3.6e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153322
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
T |
C |
11: 3,888,056 (GRCm39) |
H110R |
unknown |
Het |
| Adgrv1 |
T |
A |
13: 81,666,245 (GRCm39) |
D1937V |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,465,207 (GRCm39) |
L19H |
probably damaging |
Het |
| Bcl9 |
C |
T |
3: 97,122,712 (GRCm39) |
R29H |
probably benign |
Het |
| Boc |
A |
T |
16: 44,340,803 (GRCm39) |
I49N |
possibly damaging |
Het |
| C8a |
T |
C |
4: 104,703,164 (GRCm39) |
I298V |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,022,703 (GRCm39) |
S879P |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,786,143 (GRCm39) |
|
probably benign |
Het |
| Dnm1 |
A |
G |
2: 32,230,892 (GRCm39) |
I63T |
probably damaging |
Het |
| Flnb |
C |
T |
14: 7,929,012 (GRCm38) |
R1914C |
probably damaging |
Het |
| Gm9493 |
A |
T |
19: 23,597,209 (GRCm39) |
K35M |
possibly damaging |
Het |
| Gpld1 |
T |
C |
13: 25,163,953 (GRCm39) |
S552P |
probably damaging |
Het |
| Hacd1 |
T |
A |
2: 14,031,755 (GRCm39) |
I243F |
probably benign |
Het |
| Klhdc4 |
A |
G |
8: 122,546,901 (GRCm39) |
V110A |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,220,528 (GRCm39) |
V441M |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,244,100 (GRCm39) |
Y2109C |
probably damaging |
Het |
| Ncbp3 |
T |
A |
11: 72,964,210 (GRCm39) |
S387T |
possibly damaging |
Het |
| Notch2 |
T |
G |
3: 98,008,921 (GRCm39) |
V513G |
probably damaging |
Het |
| Nt5c1b |
A |
T |
12: 10,424,837 (GRCm39) |
R128* |
probably null |
Het |
| Olig2 |
T |
C |
16: 91,024,044 (GRCm39) |
S253P |
unknown |
Het |
| Or6b1 |
A |
G |
6: 42,815,582 (GRCm39) |
M256V |
probably benign |
Het |
| Or8g17 |
A |
G |
9: 38,930,402 (GRCm39) |
V145A |
possibly damaging |
Het |
| Or8k53 |
C |
T |
2: 86,177,364 (GRCm39) |
V249I |
possibly damaging |
Het |
| Phkb |
T |
A |
8: 86,648,780 (GRCm39) |
F199I |
probably damaging |
Het |
| Rnf17 |
A |
G |
14: 56,665,381 (GRCm39) |
T178A |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Sfxn2 |
A |
T |
19: 46,570,967 (GRCm39) |
N9I |
possibly damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,128,667 (GRCm39) |
F1448L |
probably benign |
Het |
| Tank |
T |
A |
2: 61,480,640 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
T |
1: 159,677,822 (GRCm39) |
Y69F |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,038,284 (GRCm39) |
D1518G |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,398,792 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
A |
G |
11: 21,281,028 (GRCm39) |
Y227H |
probably damaging |
Het |
| Vps50 |
G |
A |
6: 3,551,101 (GRCm39) |
W388* |
probably null |
Het |
| Zfp516 |
T |
A |
18: 83,006,232 (GRCm39) |
D1045E |
probably damaging |
Het |
| Zscan10 |
C |
T |
17: 23,824,831 (GRCm39) |
P96S |
probably damaging |
Het |
|
| Other mutations in Slc16a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:Slc16a4
|
APN |
3 |
107,210,416 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01311:Slc16a4
|
APN |
3 |
107,199,821 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01509:Slc16a4
|
APN |
3 |
107,218,750 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01780:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02294:Slc16a4
|
APN |
3 |
107,208,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02350:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02357:Slc16a4
|
APN |
3 |
107,210,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02792:Slc16a4
|
APN |
3 |
107,206,193 (GRCm39) |
missense |
probably benign |
|
|
IGL02873:Slc16a4
|
APN |
3 |
107,208,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03001:Slc16a4
|
APN |
3 |
107,218,858 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03002:Slc16a4
|
APN |
3 |
107,208,102 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0370:Slc16a4
|
UTSW |
3 |
107,208,413 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0525:Slc16a4
|
UTSW |
3 |
107,205,255 (GRCm39) |
splice site |
probably benign |
|
|
R1192:Slc16a4
|
UTSW |
3 |
107,206,189 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1458:Slc16a4
|
UTSW |
3 |
107,208,248 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1939:Slc16a4
|
UTSW |
3 |
107,208,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2061:Slc16a4
|
UTSW |
3 |
107,208,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2098:Slc16a4
|
UTSW |
3 |
107,208,163 (GRCm39) |
nonsense |
probably null |
|
|
R2102:Slc16a4
|
UTSW |
3 |
107,211,819 (GRCm39) |
splice site |
probably null |
|
|
R3411:Slc16a4
|
UTSW |
3 |
107,208,188 (GRCm39) |
missense |
probably benign |
|
|
R4983:Slc16a4
|
UTSW |
3 |
107,208,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5394:Slc16a4
|
UTSW |
3 |
107,199,758 (GRCm39) |
missense |
probably benign |
|
|
R5804:Slc16a4
|
UTSW |
3 |
107,206,280 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6077:Slc16a4
|
UTSW |
3 |
107,208,381 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6693:Slc16a4
|
UTSW |
3 |
107,210,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6811:Slc16a4
|
UTSW |
3 |
107,206,233 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6823:Slc16a4
|
UTSW |
3 |
107,218,814 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6982:Slc16a4
|
UTSW |
3 |
107,206,589 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7050:Slc16a4
|
UTSW |
3 |
107,208,148 (GRCm39) |
missense |
probably benign |
|
|
R7103:Slc16a4
|
UTSW |
3 |
107,218,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7608:Slc16a4
|
UTSW |
3 |
107,210,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7623:Slc16a4
|
UTSW |
3 |
107,205,297 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8013:Slc16a4
|
UTSW |
3 |
107,218,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8014:Slc16a4
|
UTSW |
3 |
107,218,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8713:Slc16a4
|
UTSW |
3 |
107,218,901 (GRCm39) |
makesense |
probably null |
|
|
R8876:Slc16a4
|
UTSW |
3 |
107,208,101 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9266:Slc16a4
|
UTSW |
3 |
107,199,788 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9661:Slc16a4
|
UTSW |
3 |
107,213,359 (GRCm39) |
missense |
probably benign |
|
|
X0018:Slc16a4
|
UTSW |
3 |
107,208,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGGCCTCACAGGAACAGG -3'
(R):5'- ATAGCAGTTGCCAAATCTGCTG -3'
Sequencing Primer
(F):5'- ACAGGCCGTTACTTATGAGC -3'
(R):5'- TCTGCTGAGAAATACACACTACTCTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation