Incidental Mutation 'R6252:Slc44a3'
| ID |
506270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a3
|
| Ensembl Gene |
ENSMUSG00000039865 |
| Gene Name |
solute carrier family 44, member 3 |
| Synonyms |
|
| MMRRC Submission |
044369-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6252 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
121253177-121325993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 121307386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 200
(D200V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039197]
|
| AlphaFold |
Q921V7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039197
AA Change: D200V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: D200V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
217 |
239 |
N/A |
INTRINSIC |
|
transmembrane domain
|
244 |
266 |
N/A |
INTRINSIC |
|
Pfam:Choline_transpo
|
291 |
607 |
2.3e-80 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,122,305 (GRCm39) |
I393V |
probably benign |
Het |
| Agl |
C |
T |
3: 116,580,878 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,620,561 (GRCm39) |
E1097G |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,015 (GRCm39) |
H297R |
probably benign |
Het |
| AW146154 |
G |
A |
7: 41,130,811 (GRCm39) |
P102S |
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,766,193 (GRCm39) |
V15A |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,828 (GRCm39) |
N95S |
probably benign |
Het |
| Col11a2 |
T |
A |
17: 34,261,186 (GRCm39) |
D45E |
probably null |
Het |
| Col8a1 |
A |
G |
16: 57,447,368 (GRCm39) |
V714A |
unknown |
Het |
| Crispld1 |
A |
G |
1: 17,819,731 (GRCm39) |
E243G |
probably benign |
Het |
| Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,460,693 (GRCm39) |
Y205H |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,028,382 (GRCm39) |
F1308L |
probably damaging |
Het |
| Eqtn |
A |
T |
4: 94,796,006 (GRCm39) |
S232T |
probably damaging |
Het |
| Esyt1 |
T |
C |
10: 128,347,771 (GRCm39) |
E973G |
probably benign |
Het |
| Fbxl13 |
T |
A |
5: 21,826,499 (GRCm39) |
M96L |
possibly damaging |
Het |
| Frem2 |
A |
T |
3: 53,479,869 (GRCm39) |
F1941L |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,259,995 (GRCm39) |
V1050A |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,446,664 (GRCm39) |
H721R |
probably damaging |
Het |
| Idh1 |
T |
G |
1: 65,207,690 (GRCm39) |
Q163P |
probably benign |
Het |
| Kctd15 |
A |
G |
7: 34,341,348 (GRCm39) |
V193A |
probably benign |
Het |
| Npas3 |
A |
G |
12: 54,115,673 (GRCm39) |
Y834C |
probably damaging |
Het |
| Opn4 |
C |
T |
14: 34,316,788 (GRCm39) |
V334I |
probably benign |
Het |
| Or10w3 |
A |
T |
19: 13,704,419 (GRCm39) |
S265C |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,107,649 (GRCm39) |
M687V |
probably benign |
Het |
| Pcdhgc5 |
T |
C |
18: 37,954,583 (GRCm39) |
F619S |
probably damaging |
Het |
| Pdlim2 |
G |
T |
14: 70,405,137 (GRCm39) |
Q243K |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,800,200 (GRCm39) |
L2987P |
probably damaging |
Het |
| Plcz1 |
A |
G |
6: 139,953,329 (GRCm39) |
|
probably null |
Het |
| Prpf6 |
C |
T |
2: 181,289,156 (GRCm39) |
A615V |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,710,373 (GRCm39) |
V5A |
probably benign |
Het |
| Rsph10b |
T |
A |
5: 143,873,939 (GRCm39) |
D13E |
possibly damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,588 (GRCm39) |
Q4474R |
probably benign |
Het |
| St7l |
T |
C |
3: 104,826,819 (GRCm39) |
|
probably null |
Het |
| Stc2 |
T |
A |
11: 31,310,346 (GRCm39) |
D230V |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,016,210 (GRCm39) |
T3264K |
probably benign |
Het |
| Trp73 |
C |
A |
4: 154,148,854 (GRCm39) |
D252Y |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,737,376 (GRCm39) |
D1056G |
probably benign |
Het |
| Vcan |
C |
T |
13: 89,839,339 (GRCm39) |
W1108* |
probably null |
Het |
| Zfp772 |
G |
T |
7: 7,207,018 (GRCm39) |
S224R |
possibly damaging |
Het |
| Zfp804b |
A |
T |
5: 6,819,478 (GRCm39) |
V1159E |
probably damaging |
Het |
| Zfp981 |
T |
G |
4: 146,621,970 (GRCm39) |
S298R |
probably benign |
Het |
| Zmat3 |
A |
G |
3: 32,395,770 (GRCm39) |
F246L |
possibly damaging |
Het |
| Zranb1 |
A |
G |
7: 132,585,633 (GRCm39) |
T720A |
probably benign |
Het |
|
| Other mutations in Slc44a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:Slc44a3
|
APN |
3 |
121,320,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01527:Slc44a3
|
APN |
3 |
121,320,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02304:Slc44a3
|
APN |
3 |
121,320,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02419:Slc44a3
|
APN |
3 |
121,283,906 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02836:Slc44a3
|
APN |
3 |
121,325,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Slc44a3
|
APN |
3 |
121,303,970 (GRCm39) |
splice site |
probably benign |
|
|
IGL03219:Slc44a3
|
APN |
3 |
121,257,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Slc44a3
|
UTSW |
3 |
121,306,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
BB019:Slc44a3
|
UTSW |
3 |
121,306,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0597:Slc44a3
|
UTSW |
3 |
121,253,719 (GRCm39) |
missense |
probably benign |
|
|
R0668:Slc44a3
|
UTSW |
3 |
121,303,852 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1355:Slc44a3
|
UTSW |
3 |
121,325,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:Slc44a3
|
UTSW |
3 |
121,291,496 (GRCm39) |
nonsense |
probably null |
|
|
R1617:Slc44a3
|
UTSW |
3 |
121,254,914 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1912:Slc44a3
|
UTSW |
3 |
121,325,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2027:Slc44a3
|
UTSW |
3 |
121,257,059 (GRCm39) |
splice site |
probably benign |
|
|
R2087:Slc44a3
|
UTSW |
3 |
121,319,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2199:Slc44a3
|
UTSW |
3 |
121,307,393 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4707:Slc44a3
|
UTSW |
3 |
121,320,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4736:Slc44a3
|
UTSW |
3 |
121,303,855 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4784:Slc44a3
|
UTSW |
3 |
121,320,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4785:Slc44a3
|
UTSW |
3 |
121,320,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5302:Slc44a3
|
UTSW |
3 |
121,303,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5835:Slc44a3
|
UTSW |
3 |
121,320,849 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6991:Slc44a3
|
UTSW |
3 |
121,325,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7197:Slc44a3
|
UTSW |
3 |
121,319,411 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7227:Slc44a3
|
UTSW |
3 |
121,303,879 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7272:Slc44a3
|
UTSW |
3 |
121,254,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7932:Slc44a3
|
UTSW |
3 |
121,306,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8104:Slc44a3
|
UTSW |
3 |
121,291,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8529:Slc44a3
|
UTSW |
3 |
121,319,334 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8679:Slc44a3
|
UTSW |
3 |
121,283,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Slc44a3
|
UTSW |
3 |
121,307,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9053:Slc44a3
|
UTSW |
3 |
121,320,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9121:Slc44a3
|
UTSW |
3 |
121,254,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9360:Slc44a3
|
UTSW |
3 |
121,325,908 (GRCm39) |
start gained |
probably benign |
|
|
Z1176:Slc44a3
|
UTSW |
3 |
121,325,900 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Slc44a3
|
UTSW |
3 |
121,291,399 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGACAGGCTCTGTATTTAAGTC -3'
(R):5'- CTGCTGAACCATGTCATTGG -3'
Sequencing Primer
(F):5'- GACAGGCTCTGTATTTAAGTCAAAGC -3'
(R):5'- AATACTGAGCTTATGGTTTGAGGATG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation