Incidental Mutation 'IGL02314:Slc44a5'
| ID |
287922 |
| 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 # |
IGL02314
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
153679073-153977359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 153962156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 363
(S363N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089948]
|
| AlphaFold |
Q5RJI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089948
AA Change: S363N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000087394
Gene: ENSMUSG00000028360
AA Change: S363N
| 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: ENSMUST00000144677
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg2 |
T |
A |
4: 47,472,143 (GRCm39) |
K94* |
probably null |
Het |
| Axl |
A |
G |
7: 25,486,345 (GRCm39) |
F120L |
possibly damaging |
Het |
| Baz2b |
A |
G |
2: 59,792,571 (GRCm39) |
V519A |
probably benign |
Het |
| Cdk2 |
A |
T |
10: 128,539,595 (GRCm39) |
I99N |
probably damaging |
Het |
| Ces1b |
C |
A |
8: 93,791,524 (GRCm39) |
W358C |
possibly damaging |
Het |
| Cimap1b |
T |
G |
15: 89,262,372 (GRCm39) |
K82N |
probably damaging |
Het |
| Clca3b |
A |
G |
3: 144,533,903 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
T |
G |
9: 105,874,355 (GRCm39) |
T2211P |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,125,265 (GRCm39) |
E438K |
probably benign |
Het |
| Dpy19l4 |
T |
A |
4: 11,267,720 (GRCm39) |
T407S |
possibly damaging |
Het |
| Dtx3 |
G |
A |
10: 127,026,828 (GRCm39) |
|
probably benign |
Het |
| Eif1ad14 |
T |
A |
12: 87,886,377 (GRCm39) |
Y84F |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,881,134 (GRCm39) |
L3246H |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,779 (GRCm39) |
D224V |
probably damaging |
Het |
| Fndc9 |
A |
T |
11: 46,129,122 (GRCm39) |
I214F |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,117,264 (GRCm39) |
I22N |
probably damaging |
Het |
| Gkn1 |
T |
C |
6: 87,326,103 (GRCm39) |
D29G |
probably benign |
Het |
| Gng11 |
T |
A |
6: 4,004,317 (GRCm39) |
M1K |
probably null |
Het |
| Hdac7 |
T |
C |
15: 97,706,885 (GRCm39) |
D237G |
probably damaging |
Het |
| Hgf |
A |
G |
5: 16,777,600 (GRCm39) |
Y199C |
probably damaging |
Het |
| Hgfac |
A |
T |
5: 35,198,941 (GRCm39) |
M1L |
probably benign |
Het |
| Hsd17b6 |
T |
C |
10: 127,833,777 (GRCm39) |
T35A |
probably damaging |
Het |
| Htr3a |
G |
A |
9: 48,815,927 (GRCm39) |
P170L |
probably damaging |
Het |
| Ighv12-3 |
A |
G |
12: 114,330,421 (GRCm39) |
S25P |
probably damaging |
Het |
| Jph2 |
A |
T |
2: 163,239,273 (GRCm39) |
N58K |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,836,275 (GRCm39) |
|
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,740,638 (GRCm39) |
Y394* |
probably null |
Het |
| Macf1 |
G |
T |
4: 123,338,630 (GRCm39) |
T2248K |
probably damaging |
Het |
| Map3k2 |
A |
G |
18: 32,351,553 (GRCm39) |
|
probably benign |
Het |
| Map4k5 |
G |
A |
12: 69,865,213 (GRCm39) |
P524S |
probably benign |
Het |
| Mcf2l |
C |
T |
8: 13,051,851 (GRCm39) |
S359L |
probably damaging |
Het |
| Mdh1b |
C |
T |
1: 63,750,273 (GRCm39) |
|
probably null |
Het |
| Mfhas1 |
G |
A |
8: 36,055,927 (GRCm39) |
R134H |
probably damaging |
Het |
| Mogs |
A |
G |
6: 83,095,036 (GRCm39) |
T618A |
probably benign |
Het |
| Mybpc2 |
T |
A |
7: 44,171,812 (GRCm39) |
Q39H |
possibly damaging |
Het |
| Myoc |
C |
T |
1: 162,466,917 (GRCm39) |
R29W |
probably damaging |
Het |
| Nae1 |
A |
G |
8: 105,252,938 (GRCm39) |
M162T |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,805,532 (GRCm39) |
I126V |
probably benign |
Het |
| Nxnl2 |
C |
A |
13: 51,325,565 (GRCm39) |
F69L |
probably benign |
Het |
| Oca2 |
T |
A |
7: 56,006,899 (GRCm39) |
I662N |
probably benign |
Het |
| Or52b3 |
A |
T |
7: 102,204,318 (GRCm39) |
I276F |
probably damaging |
Het |
| Or5w8 |
A |
G |
2: 87,688,400 (GRCm39) |
N294D |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,099 (GRCm39) |
S217T |
probably damaging |
Het |
| Or7e176 |
A |
T |
9: 20,171,774 (GRCm39) |
I213L |
probably benign |
Het |
| Pcdhb14 |
G |
A |
18: 37,583,248 (GRCm39) |
E785K |
probably benign |
Het |
| Plb1 |
A |
C |
5: 32,438,492 (GRCm39) |
Y209S |
possibly damaging |
Het |
| Pramel24 |
T |
C |
4: 143,455,012 (GRCm39) |
S437P |
probably benign |
Het |
| Rab44 |
C |
A |
17: 29,358,327 (GRCm39) |
Q172K |
probably benign |
Het |
| Rnf214 |
A |
T |
9: 45,811,105 (GRCm39) |
V186E |
probably benign |
Het |
| Rps6ka1 |
C |
A |
4: 133,578,065 (GRCm39) |
G522W |
probably damaging |
Het |
| Samhd1 |
G |
T |
2: 156,976,948 (GRCm39) |
T21K |
probably damaging |
Het |
| Scly |
A |
G |
1: 91,246,763 (GRCm39) |
Y358C |
probably benign |
Het |
| Sfxn2 |
A |
G |
19: 46,571,026 (GRCm39) |
N29D |
possibly damaging |
Het |
| Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,753,932 (GRCm39) |
|
probably benign |
Het |
| Tas1r3 |
A |
T |
4: 155,945,119 (GRCm39) |
C701S |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,234,502 (GRCm39) |
S14P |
possibly damaging |
Het |
| Trmt6 |
G |
A |
2: 132,647,378 (GRCm39) |
A486V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,727,091 (GRCm39) |
R1602* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,365,826 (GRCm39) |
M2227V |
probably benign |
Het |
| Vmn2r96 |
A |
T |
17: 18,804,221 (GRCm39) |
Q490H |
probably benign |
Het |
| Wdr19 |
G |
T |
5: 65,414,463 (GRCm39) |
A1279S |
probably benign |
Het |
| Zbtb7c |
G |
A |
18: 76,278,937 (GRCm39) |
R465H |
probably damaging |
Het |
| Zfp473 |
T |
C |
7: 44,383,353 (GRCm39) |
S326G |
probably benign |
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 |
|
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