Incidental Mutation 'IGL03144:Slc44a5'
| ID |
410800 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc44a5
|
| Ensembl Gene |
ENSMUSG00000028360 |
| Gene Name |
solute carrier family 44, member 5 |
| Synonyms |
LOC242259 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL03144
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
153679073-153977359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 153949177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 217
(D217Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089948]
|
| AlphaFold |
Q5RJI2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089948
AA Change: D217Y
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360
AA Change: D217Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
transmembrane domain
|
263 |
285 |
N/A |
INTRINSIC |
|
Pfam:Choline_transpo
|
323 |
683 |
6.3e-114 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200319
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
C |
A |
17: 24,600,938 (GRCm39) |
Q451K |
probably benign |
Het |
| Acly |
A |
T |
11: 100,405,909 (GRCm39) |
D294E |
possibly damaging |
Het |
| Arid3a |
C |
T |
10: 79,782,316 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,643,539 (GRCm39) |
V1830A |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,735,333 (GRCm39) |
V467A |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,736,327 (GRCm39) |
I1233L |
probably damaging |
Het |
| Ccdc74a |
C |
A |
16: 17,466,730 (GRCm39) |
Q146K |
possibly damaging |
Het |
| Cdh26 |
A |
G |
2: 178,109,967 (GRCm39) |
D420G |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,705,444 (GRCm39) |
V145A |
possibly damaging |
Het |
| Cmya5 |
C |
A |
13: 93,227,376 (GRCm39) |
A2571S |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,267,763 (GRCm39) |
S360P |
probably damaging |
Het |
| Col26a1 |
G |
T |
5: 136,794,202 (GRCm39) |
T132N |
probably damaging |
Het |
| Col6a2 |
T |
A |
10: 76,450,259 (GRCm39) |
H224L |
probably benign |
Het |
| Cpm |
C |
T |
10: 117,519,319 (GRCm39) |
S409L |
probably benign |
Het |
| Dock4 |
G |
T |
12: 40,742,906 (GRCm39) |
|
probably benign |
Het |
| Dpy19l2 |
T |
A |
9: 24,557,603 (GRCm39) |
N391Y |
possibly damaging |
Het |
| Exosc9 |
G |
A |
3: 36,608,284 (GRCm39) |
G126D |
probably damaging |
Het |
| Eya3 |
T |
C |
4: 132,420,453 (GRCm39) |
S256P |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,286,541 (GRCm39) |
D994G |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,011,008 (GRCm39) |
Q2036R |
possibly damaging |
Het |
| Fryl |
T |
C |
5: 73,258,798 (GRCm39) |
Q662R |
probably null |
Het |
| Gm13271 |
A |
G |
4: 88,673,636 (GRCm39) |
R178G |
probably benign |
Het |
| Gpr165 |
T |
A |
X: 95,760,560 (GRCm39) |
L279Q |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,998 (GRCm39) |
L203P |
probably damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,780,112 (GRCm39) |
L328P |
probably damaging |
Het |
| Klhl26 |
C |
T |
8: 70,905,214 (GRCm39) |
R198H |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,123,115 (GRCm39) |
R973G |
possibly damaging |
Het |
| Nmi |
A |
T |
2: 51,842,546 (GRCm39) |
F182Y |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,475 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Ooep |
G |
T |
9: 78,285,289 (GRCm39) |
A109E |
possibly damaging |
Het |
| Or1j21 |
A |
G |
2: 36,684,093 (GRCm39) |
T282A |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,387,591 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,459 (GRCm39) |
N127D |
probably damaging |
Het |
| Rabgap1 |
G |
A |
2: 37,430,544 (GRCm39) |
R695H |
probably damaging |
Het |
| Rxrg |
G |
A |
1: 167,426,327 (GRCm39) |
G3R |
possibly damaging |
Het |
| Slc17a3 |
T |
C |
13: 24,030,423 (GRCm39) |
M178T |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,589,971 (GRCm39) |
E287G |
probably benign |
Het |
| Slc4a10 |
G |
T |
2: 62,080,810 (GRCm39) |
V346L |
probably benign |
Het |
| Slc9a4 |
T |
C |
1: 40,651,362 (GRCm39) |
Y547H |
probably damaging |
Het |
| St6galnac3 |
A |
C |
3: 152,911,164 (GRCm39) |
Y266D |
probably damaging |
Het |
| Stard6 |
A |
T |
18: 70,609,182 (GRCm39) |
Y3F |
possibly damaging |
Het |
| Stk25 |
C |
A |
1: 93,556,858 (GRCm39) |
L53F |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,081,474 (GRCm39) |
|
probably benign |
Het |
| Tmem151a |
T |
A |
19: 5,135,400 (GRCm39) |
M1L |
probably benign |
Het |
| Trim10 |
T |
C |
17: 37,187,740 (GRCm39) |
S319P |
probably damaging |
Het |
| Trmt44 |
G |
T |
5: 35,721,766 (GRCm39) |
P466T |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,008,401 (GRCm39) |
I256T |
probably damaging |
Het |
| Vmn2r125 |
G |
T |
4: 156,702,314 (GRCm39) |
L33F |
possibly damaging |
Het |
|
| Other mutations in Slc44a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Slc44a5
|
APN |
3 |
153,968,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02187:Slc44a5
|
APN |
3 |
153,968,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02219:Slc44a5
|
APN |
3 |
153,944,796 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02220:Slc44a5
|
APN |
3 |
153,956,608 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02314:Slc44a5
|
APN |
3 |
153,962,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02471:Slc44a5
|
APN |
3 |
153,962,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Slc44a5
|
APN |
3 |
153,956,651 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03117:Slc44a5
|
APN |
3 |
153,956,714 (GRCm39) |
missense |
probably benign |
0.15 |
|
PIT4486001:Slc44a5
|
UTSW |
3 |
153,964,659 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0026:Slc44a5
|
UTSW |
3 |
153,945,907 (GRCm39) |
splice site |
probably benign |
|
|
R0190:Slc44a5
|
UTSW |
3 |
153,944,755 (GRCm39) |
missense |
probably null |
0.00 |
|
R0306:Slc44a5
|
UTSW |
3 |
153,975,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Slc44a5
|
UTSW |
3 |
153,939,782 (GRCm39) |
splice site |
probably benign |
|
|
R0744:Slc44a5
|
UTSW |
3 |
153,971,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0833:Slc44a5
|
UTSW |
3 |
153,971,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0919:Slc44a5
|
UTSW |
3 |
153,949,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Slc44a5
|
UTSW |
3 |
153,963,357 (GRCm39) |
splice site |
probably null |
|
|
R1370:Slc44a5
|
UTSW |
3 |
153,948,796 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1613:Slc44a5
|
UTSW |
3 |
153,963,351 (GRCm39) |
splice site |
probably null |
|
|
R1713:Slc44a5
|
UTSW |
3 |
153,944,743 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1999:Slc44a5
|
UTSW |
3 |
153,964,130 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2143:Slc44a5
|
UTSW |
3 |
153,964,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2293:Slc44a5
|
UTSW |
3 |
153,945,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2367:Slc44a5
|
UTSW |
3 |
153,953,446 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3842:Slc44a5
|
UTSW |
3 |
153,967,031 (GRCm39) |
splice site |
probably benign |
|
|
R3953:Slc44a5
|
UTSW |
3 |
153,877,209 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4163:Slc44a5
|
UTSW |
3 |
153,967,010 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4509:Slc44a5
|
UTSW |
3 |
153,939,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Slc44a5
|
UTSW |
3 |
153,962,221 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4936:Slc44a5
|
UTSW |
3 |
153,959,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4937:Slc44a5
|
UTSW |
3 |
153,949,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5083:Slc44a5
|
UTSW |
3 |
153,953,424 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5257:Slc44a5
|
UTSW |
3 |
153,948,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Slc44a5
|
UTSW |
3 |
153,966,922 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5586:Slc44a5
|
UTSW |
3 |
153,975,802 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5856:Slc44a5
|
UTSW |
3 |
153,964,029 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5894:Slc44a5
|
UTSW |
3 |
153,962,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Slc44a5
|
UTSW |
3 |
153,944,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6248:Slc44a5
|
UTSW |
3 |
153,969,678 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6413:Slc44a5
|
UTSW |
3 |
153,963,387 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6454:Slc44a5
|
UTSW |
3 |
153,948,796 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6594:Slc44a5
|
UTSW |
3 |
153,964,660 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6761:Slc44a5
|
UTSW |
3 |
153,945,714 (GRCm39) |
splice site |
probably null |
|
|
R6931:Slc44a5
|
UTSW |
3 |
153,964,143 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7027:Slc44a5
|
UTSW |
3 |
153,959,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7566:Slc44a5
|
UTSW |
3 |
153,975,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Slc44a5
|
UTSW |
3 |
153,679,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8011:Slc44a5
|
UTSW |
3 |
153,953,447 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8085:Slc44a5
|
UTSW |
3 |
153,928,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8460:Slc44a5
|
UTSW |
3 |
153,975,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8765:Slc44a5
|
UTSW |
3 |
153,968,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9154:Slc44a5
|
UTSW |
3 |
153,953,373 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9291:Slc44a5
|
UTSW |
3 |
153,962,218 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9328:Slc44a5
|
UTSW |
3 |
153,964,678 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9647:Slc44a5
|
UTSW |
3 |
153,953,370 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9666:Slc44a5
|
UTSW |
3 |
153,945,926 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9695:Slc44a5
|
UTSW |
3 |
153,956,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9758:Slc44a5
|
UTSW |
3 |
153,959,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation