Incidental Mutation 'IGL02220:Slc44a5'
| ID |
285103 |
| 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: 0.078)
|
| Stock # |
IGL02220
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
153679073-153977359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 153956608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 287
(Y287H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089948]
|
| AlphaFold |
Q5RJI2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089948
AA Change: Y287H
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360
AA Change: Y287H
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,310,395 (GRCm39) |
D460G |
probably damaging |
Het |
| Ankrd9 |
T |
C |
12: 110,943,933 (GRCm39) |
M1V |
probably null |
Het |
| Anks1 |
T |
C |
17: 28,273,681 (GRCm39) |
I977T |
probably damaging |
Het |
| Bcar1 |
T |
C |
8: 112,437,839 (GRCm39) |
D767G |
possibly damaging |
Het |
| Bcl6 |
A |
T |
16: 23,793,641 (GRCm39) |
I102N |
probably damaging |
Het |
| Cacna2d2 |
G |
A |
9: 107,392,078 (GRCm39) |
G473D |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,140,903 (GRCm39) |
H3148Q |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,940,141 (GRCm39) |
V1263A |
possibly damaging |
Het |
| Crtc2 |
T |
C |
3: 90,166,455 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
G |
A |
13: 25,067,738 (GRCm39) |
G825S |
possibly damaging |
Het |
| Dera |
T |
A |
6: 137,757,815 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
G |
T |
11: 117,963,793 (GRCm39) |
Y2506* |
probably null |
Het |
| Enam |
T |
A |
5: 88,652,418 (GRCm39) |
L1309* |
probably null |
Het |
| Fbxo15 |
G |
A |
18: 84,982,317 (GRCm39) |
|
probably null |
Het |
| Fgfbp1 |
T |
C |
5: 44,136,828 (GRCm39) |
K155E |
probably damaging |
Het |
| Foxj2 |
C |
T |
6: 122,815,540 (GRCm39) |
|
probably benign |
Het |
| Fuca1 |
A |
G |
4: 135,666,530 (GRCm39) |
|
probably benign |
Het |
| Gad1-ps |
T |
A |
10: 99,281,184 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Eb2 |
C |
T |
17: 34,544,661 (GRCm39) |
|
probably benign |
Het |
| Insr |
A |
T |
8: 3,209,578 (GRCm39) |
F1168L |
probably damaging |
Het |
| Isx |
T |
A |
8: 75,619,333 (GRCm39) |
V175E |
possibly damaging |
Het |
| Kansl3 |
T |
C |
1: 36,407,070 (GRCm39) |
|
probably benign |
Het |
| Lin9 |
T |
C |
1: 180,494,932 (GRCm39) |
I218T |
probably damaging |
Het |
| Llgl2 |
C |
A |
11: 115,736,205 (GRCm39) |
A126D |
possibly damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,876,083 (GRCm39) |
E488G |
possibly damaging |
Het |
| Maml3 |
A |
G |
3: 51,597,639 (GRCm39) |
V369A |
possibly damaging |
Het |
| Mthfsl |
A |
G |
9: 88,597,708 (GRCm39) |
I14T |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,119,923 (GRCm39) |
|
probably benign |
Het |
| Nfkbil1 |
T |
C |
17: 35,439,722 (GRCm39) |
R264G |
possibly damaging |
Het |
| Or4c3d |
A |
G |
2: 89,882,038 (GRCm39) |
L210P |
probably damaging |
Het |
| Pde5a |
G |
T |
3: 122,542,031 (GRCm39) |
A174S |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,606,382 (GRCm39) |
I1173N |
probably damaging |
Het |
| Ppfia1 |
C |
A |
7: 144,035,512 (GRCm39) |
R1171L |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,172,131 (GRCm39) |
D595G |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,042,742 (GRCm39) |
|
probably benign |
Het |
| Samsn1 |
A |
G |
16: 75,680,763 (GRCm39) |
|
probably null |
Het |
| Sbno2 |
T |
A |
10: 79,908,202 (GRCm39) |
T66S |
probably benign |
Het |
| Serpina1c |
T |
A |
12: 103,862,338 (GRCm39) |
I326F |
probably damaging |
Het |
| Slc12a1 |
T |
C |
2: 125,030,190 (GRCm39) |
|
probably null |
Het |
| Slc18a2 |
A |
G |
19: 59,264,988 (GRCm39) |
E324G |
probably benign |
Het |
| Slc40a1 |
A |
T |
1: 45,950,495 (GRCm39) |
M319K |
probably damaging |
Het |
| Stx4a |
A |
G |
7: 127,441,672 (GRCm39) |
E63G |
possibly damaging |
Het |
| Sv2a |
T |
C |
3: 96,098,032 (GRCm39) |
F545S |
probably benign |
Het |
| Svop |
T |
C |
5: 114,203,589 (GRCm39) |
D65G |
probably benign |
Het |
| Tex30 |
A |
T |
1: 44,126,182 (GRCm39) |
S182R |
probably benign |
Het |
| Tmem121b |
T |
C |
6: 120,469,298 (GRCm39) |
D473G |
probably damaging |
Het |
| Tnfrsf19 |
C |
A |
14: 61,210,941 (GRCm39) |
|
probably benign |
Het |
| Tnrc6a |
T |
C |
7: 122,769,679 (GRCm39) |
S490P |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,115,746 (GRCm39) |
T82A |
probably benign |
Het |
| Vps16 |
A |
G |
2: 130,283,573 (GRCm39) |
D589G |
possibly damaging |
Het |
| Zscan29 |
A |
C |
2: 120,997,170 (GRCm39) |
S184A |
probably 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 |
|
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 |
|
IGL03144:Slc44a5
|
APN |
3 |
153,949,177 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
2015-04-16 |
Incidental Mutation