Incidental Mutation 'IGL03219:Slc44a3'
| ID |
413573 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc44a3
|
| Ensembl Gene |
ENSMUSG00000039865 |
| Gene Name |
solute carrier family 44, member 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03219
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
121253177-121325993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121257169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 508
(T508I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039197]
|
| AlphaFold |
Q921V7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039197
AA Change: T508I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: T508I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198335
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clasp2 |
T |
C |
9: 113,677,545 (GRCm39) |
|
probably benign |
Het |
| Ctss |
C |
T |
3: 95,450,411 (GRCm39) |
R121W |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,631,738 (GRCm39) |
M153K |
possibly damaging |
Het |
| Cyp2d34 |
T |
C |
15: 82,502,740 (GRCm39) |
H162R |
probably benign |
Het |
| Dynlrb2 |
A |
T |
8: 117,241,635 (GRCm39) |
I60F |
probably benign |
Het |
| E4f1 |
C |
T |
17: 24,664,419 (GRCm39) |
|
probably null |
Het |
| Fzd6 |
T |
A |
15: 38,894,971 (GRCm39) |
V379E |
probably damaging |
Het |
| Galnt13 |
T |
C |
2: 54,823,447 (GRCm39) |
V341A |
possibly damaging |
Het |
| Hip1 |
T |
C |
5: 135,485,904 (GRCm39) |
S100G |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,975,169 (GRCm39) |
|
probably benign |
Het |
| Obox3 |
G |
A |
7: 15,359,803 (GRCm39) |
L289F |
probably damaging |
Het |
| Or52s6 |
C |
T |
7: 103,091,745 (GRCm39) |
G195E |
possibly damaging |
Het |
| Or8b50 |
G |
T |
9: 38,518,247 (GRCm39) |
C162F |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,460,291 (GRCm39) |
E4167K |
possibly damaging |
Het |
| Pphln1 |
T |
C |
15: 93,363,136 (GRCm39) |
|
probably benign |
Het |
| Ranbp6 |
A |
T |
19: 29,787,680 (GRCm39) |
W891R |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,107,194 (GRCm39) |
L64Q |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,907,702 (GRCm39) |
Y991F |
probably damaging |
Het |
| Senp2 |
T |
A |
16: 21,833,014 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,938,855 (GRCm39) |
D731G |
probably benign |
Het |
| Thnsl1 |
T |
A |
2: 21,217,217 (GRCm39) |
C324S |
probably benign |
Het |
| Tnfrsf11b |
A |
T |
15: 54,117,574 (GRCm39) |
L227* |
probably null |
Het |
| Tulp4 |
T |
C |
17: 6,189,285 (GRCm39) |
C36R |
probably damaging |
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 |
|
|
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 |
|
R6252:Slc44a3
|
UTSW |
3 |
121,307,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation