Incidental Mutation 'IGL03117:Slc44a5'
| ID |
419459 |
| 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 # |
IGL03117
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
153679073-153977359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 153956714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 322
(M322K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089948]
|
| AlphaFold |
Q5RJI2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089948
AA Change: M322K
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360
AA Change: M322K
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d3 |
A |
G |
14: 29,189,909 (GRCm39) |
L109P |
probably damaging |
Het |
| Caprin2 |
A |
T |
6: 148,763,964 (GRCm39) |
S568T |
possibly damaging |
Het |
| Catip |
A |
G |
1: 74,403,744 (GRCm39) |
T154A |
probably null |
Het |
| Ccdc187 |
A |
G |
2: 26,177,980 (GRCm39) |
S270P |
possibly damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,324,559 (GRCm39) |
Y39C |
probably damaging |
Het |
| Chrdl2 |
A |
T |
7: 99,676,787 (GRCm39) |
H203L |
possibly damaging |
Het |
| Chrnb2 |
A |
G |
3: 89,670,552 (GRCm39) |
V62A |
probably damaging |
Het |
| Cklf |
T |
A |
8: 104,984,055 (GRCm39) |
S73T |
possibly damaging |
Het |
| Clk1 |
A |
G |
1: 58,456,166 (GRCm39) |
|
probably null |
Het |
| Ctdp1 |
T |
C |
18: 80,492,716 (GRCm39) |
D593G |
probably damaging |
Het |
| Ctsc |
A |
T |
7: 87,958,988 (GRCm39) |
I423F |
probably damaging |
Het |
| D130043K22Rik |
T |
A |
13: 25,073,825 (GRCm39) |
V968E |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,696,140 (GRCm39) |
S166G |
possibly damaging |
Het |
| Dnah2 |
G |
T |
11: 69,327,117 (GRCm39) |
|
probably benign |
Het |
| Dnajb11 |
G |
T |
16: 22,687,888 (GRCm39) |
R206L |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,786,908 (GRCm39) |
|
probably benign |
Het |
| Ehd2 |
T |
C |
7: 15,684,396 (GRCm39) |
S468G |
possibly damaging |
Het |
| Ehmt2 |
T |
A |
17: 35,125,787 (GRCm39) |
V640E |
possibly damaging |
Het |
| Elmo2 |
T |
A |
2: 165,140,573 (GRCm39) |
E299D |
probably benign |
Het |
| Eps8l1 |
T |
C |
7: 4,473,886 (GRCm39) |
L231P |
probably damaging |
Het |
| Esd |
A |
G |
14: 74,978,686 (GRCm39) |
T83A |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,293,020 (GRCm39) |
F529L |
probably benign |
Het |
| Hnrnpu |
G |
A |
1: 178,158,339 (GRCm39) |
|
probably benign |
Het |
| Hpx |
G |
T |
7: 105,249,278 (GRCm39) |
A7E |
possibly damaging |
Het |
| Ighv6-5 |
C |
T |
12: 114,380,320 (GRCm39) |
V85M |
possibly damaging |
Het |
| Itpr3 |
G |
A |
17: 27,338,240 (GRCm39) |
V2503I |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,875,114 (GRCm39) |
T355A |
probably benign |
Het |
| Matr3 |
G |
T |
18: 35,705,710 (GRCm39) |
G212C |
probably damaging |
Het |
| Mrpl35 |
A |
T |
6: 71,793,263 (GRCm39) |
Y129* |
probably null |
Het |
| Myh2 |
T |
C |
11: 67,071,710 (GRCm39) |
I509T |
possibly damaging |
Het |
| Nat8l |
G |
T |
5: 34,158,288 (GRCm39) |
A233S |
probably damaging |
Het |
| Nipbl |
A |
C |
15: 8,361,936 (GRCm39) |
L1447W |
probably damaging |
Het |
| Paf1 |
T |
A |
7: 28,094,481 (GRCm39) |
C31S |
possibly damaging |
Het |
| Parp4 |
A |
C |
14: 56,840,313 (GRCm39) |
T573P |
probably benign |
Het |
| Phf12 |
A |
T |
11: 77,913,846 (GRCm39) |
|
probably benign |
Het |
| Pi4k2b |
A |
G |
5: 52,905,765 (GRCm39) |
E102G |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,762,382 (GRCm39) |
C7R |
probably benign |
Het |
| Prpsap2 |
T |
C |
11: 61,631,815 (GRCm39) |
R181G |
probably benign |
Het |
| Psd |
A |
G |
19: 46,311,561 (GRCm39) |
|
probably benign |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rab21 |
A |
T |
10: 115,151,097 (GRCm39) |
|
probably null |
Het |
| Relb |
T |
C |
7: 19,346,582 (GRCm39) |
D330G |
probably damaging |
Het |
| Rhoc |
A |
T |
3: 104,700,236 (GRCm39) |
T100S |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,802,389 (GRCm39) |
H744N |
probably damaging |
Het |
| Sardh |
C |
T |
2: 27,129,458 (GRCm39) |
G280D |
probably damaging |
Het |
| Scyl2 |
A |
C |
10: 89,493,729 (GRCm39) |
N346K |
possibly damaging |
Het |
| Sec16b |
T |
C |
1: 157,362,970 (GRCm39) |
F267S |
probably damaging |
Het |
| St8sia4 |
T |
A |
1: 95,519,508 (GRCm39) |
N327Y |
probably benign |
Het |
| Tbl1xr1 |
T |
A |
3: 22,257,323 (GRCm39) |
Y395* |
probably null |
Het |
| Unc13c |
A |
T |
9: 73,441,307 (GRCm39) |
S1897R |
probably benign |
Het |
| Vangl2 |
A |
G |
1: 171,840,415 (GRCm39) |
S58P |
probably damaging |
Het |
| Vmn1r17 |
A |
G |
6: 57,337,501 (GRCm39) |
I288T |
probably benign |
Het |
| Vmn1r236 |
A |
G |
17: 21,507,508 (GRCm39) |
I209V |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,149,950 (GRCm39) |
Y149C |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation