Incidental Mutation 'IGL02338:Slc44a2'
ID |
288928 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc44a2
|
Ensembl Gene |
ENSMUSG00000057193 |
Gene Name |
solute carrier family 44, member 2 |
Synonyms |
CTL2, 1110028E10Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02338
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
21232015-21266324 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21258338 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 500
(T500A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034697]
[ENSMUST00000215574]
[ENSMUST00000217461]
|
AlphaFold |
Q8BY89 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034697
AA Change: T502A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000034697 Gene: ENSMUSG00000057193 AA Change: T502A
Domain | Start | End | E-Value | Type |
Blast:CLECT
|
4 |
37 |
8e-8 |
BLAST |
transmembrane domain
|
231 |
253 |
N/A |
INTRINSIC |
transmembrane domain
|
255 |
277 |
N/A |
INTRINSIC |
Pfam:Choline_transpo
|
319 |
678 |
3.9e-119 |
PFAM |
low complexity region
|
691 |
702 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213499
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213535
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213758
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214268
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215528
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215574
AA Change: T500A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217453
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217461
AA Change: T500A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216266
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahdc1 |
G |
A |
4: 132,789,860 (GRCm39) |
C367Y |
possibly damaging |
Het |
AI182371 |
T |
A |
2: 34,975,728 (GRCm39) |
I279L |
probably benign |
Het |
Ambp |
A |
T |
4: 63,061,934 (GRCm39) |
C332S |
probably damaging |
Het |
App |
T |
C |
16: 84,970,407 (GRCm39) |
T14A |
probably benign |
Het |
Asap1 |
A |
T |
15: 63,995,519 (GRCm39) |
|
probably null |
Het |
Aurka |
T |
C |
2: 172,201,778 (GRCm39) |
R242G |
probably benign |
Het |
BC034090 |
G |
A |
1: 155,093,217 (GRCm39) |
P747L |
probably damaging |
Het |
Bcl6b |
T |
C |
11: 70,119,918 (GRCm39) |
D23G |
probably damaging |
Het |
Cabp2 |
A |
C |
19: 4,134,154 (GRCm39) |
E42A |
possibly damaging |
Het |
Ccdc14 |
G |
A |
16: 34,542,173 (GRCm39) |
S557N |
probably benign |
Het |
Ccdc146 |
G |
T |
5: 21,524,604 (GRCm39) |
|
probably benign |
Het |
Cenpf |
T |
A |
1: 189,412,615 (GRCm39) |
Q216L |
probably damaging |
Het |
Ces1b |
G |
A |
8: 93,783,675 (GRCm39) |
P515L |
possibly damaging |
Het |
Col6a5 |
A |
T |
9: 105,755,829 (GRCm39) |
N2198K |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,288,859 (GRCm39) |
S1133G |
possibly damaging |
Het |
Cspg5 |
G |
A |
9: 110,085,335 (GRCm39) |
R502H |
probably benign |
Het |
Cyp2g1 |
A |
G |
7: 26,514,229 (GRCm39) |
|
probably benign |
Het |
Dnajc27 |
A |
G |
12: 4,146,229 (GRCm39) |
Y86C |
probably damaging |
Het |
Dnm1 |
T |
C |
2: 32,202,783 (GRCm39) |
D715G |
probably damaging |
Het |
Dock1 |
G |
T |
7: 134,734,804 (GRCm39) |
L1317F |
possibly damaging |
Het |
Fanci |
T |
A |
7: 79,083,279 (GRCm39) |
Y727* |
probably null |
Het |
Fbxw20 |
T |
A |
9: 109,055,046 (GRCm39) |
T168S |
probably benign |
Het |
Folh1 |
A |
T |
7: 86,385,723 (GRCm39) |
|
probably benign |
Het |
Gas7 |
A |
T |
11: 67,573,557 (GRCm39) |
S379C |
probably damaging |
Het |
Gbp2b |
A |
G |
3: 142,309,987 (GRCm39) |
E259G |
probably benign |
Het |
Gm8325 |
T |
C |
3: 60,784,805 (GRCm39) |
|
noncoding transcript |
Het |
Gpr75 |
A |
T |
11: 30,841,730 (GRCm39) |
T212S |
probably benign |
Het |
Itgb4 |
A |
G |
11: 115,898,795 (GRCm39) |
T1711A |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,184,796 (GRCm39) |
S453G |
probably benign |
Het |
Maneal |
A |
G |
4: 124,754,276 (GRCm39) |
|
probably benign |
Het |
Marco |
A |
T |
1: 120,422,508 (GRCm39) |
I58N |
possibly damaging |
Het |
Mtcl1 |
A |
G |
17: 66,686,965 (GRCm39) |
I647T |
probably damaging |
Het |
Mtfr1l |
A |
T |
4: 134,258,054 (GRCm39) |
V56D |
probably damaging |
Het |
Npy1r |
G |
A |
8: 67,156,954 (GRCm39) |
V125I |
probably damaging |
Het |
Or1j19 |
C |
T |
2: 36,676,557 (GRCm39) |
Q7* |
probably null |
Het |
Or52n20 |
T |
C |
7: 104,320,888 (GRCm39) |
|
probably benign |
Het |
Or7g25 |
A |
G |
9: 19,159,960 (GRCm39) |
L245P |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,867,210 (GRCm39) |
L362* |
probably null |
Het |
Pdlim2 |
T |
C |
14: 70,411,906 (GRCm39) |
D42G |
probably damaging |
Het |
Plcb4 |
T |
A |
2: 135,842,100 (GRCm39) |
I89N |
possibly damaging |
Het |
Prrc2b |
T |
A |
2: 32,104,047 (GRCm39) |
M1175K |
probably benign |
Het |
Pzp |
T |
A |
6: 128,463,133 (GRCm39) |
N1423I |
probably benign |
Het |
Retnla |
G |
A |
16: 48,664,561 (GRCm39) |
C105Y |
probably damaging |
Het |
Samd8 |
T |
A |
14: 21,825,544 (GRCm39) |
S167T |
possibly damaging |
Het |
Scg2 |
A |
G |
1: 79,414,210 (GRCm39) |
M171T |
possibly damaging |
Het |
Slc30a5 |
A |
G |
13: 100,939,941 (GRCm39) |
V658A |
probably damaging |
Het |
Slc41a2 |
T |
C |
10: 83,152,455 (GRCm39) |
R7G |
possibly damaging |
Het |
Slc44a4 |
G |
T |
17: 35,142,786 (GRCm39) |
G396V |
possibly damaging |
Het |
Smarca5 |
A |
G |
8: 81,446,199 (GRCm39) |
|
probably benign |
Het |
St8sia6 |
T |
A |
2: 13,798,156 (GRCm39) |
R34W |
probably damaging |
Het |
Stk-ps2 |
T |
A |
1: 46,069,337 (GRCm39) |
|
noncoding transcript |
Het |
Stn1 |
T |
C |
19: 47,502,329 (GRCm39) |
Y235C |
probably damaging |
Het |
Tbx15 |
A |
G |
3: 99,259,800 (GRCm39) |
Y557C |
probably damaging |
Het |
Tgfbr1 |
G |
A |
4: 47,393,490 (GRCm39) |
|
probably null |
Het |
Thsd7b |
G |
T |
1: 129,523,508 (GRCm39) |
V181L |
probably damaging |
Het |
Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
Trpm4 |
T |
G |
7: 44,976,422 (GRCm39) |
R51S |
probably damaging |
Het |
Vmn1r91 |
A |
T |
7: 19,835,671 (GRCm39) |
T197S |
probably damaging |
Het |
Vmn2r-ps158 |
T |
C |
7: 42,697,160 (GRCm39) |
I739T |
probably damaging |
Het |
Xrn1 |
A |
G |
9: 95,859,880 (GRCm39) |
D424G |
probably benign |
Het |
Yap1 |
A |
G |
9: 7,962,282 (GRCm39) |
|
probably null |
Het |
Zer1 |
T |
C |
2: 30,003,405 (GRCm39) |
D4G |
probably damaging |
Het |
Zfp462 |
A |
T |
4: 55,010,292 (GRCm39) |
I753F |
possibly damaging |
Het |
|
Other mutations in Slc44a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00786:Slc44a2
|
APN |
9 |
21,257,231 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01506:Slc44a2
|
APN |
9 |
21,249,246 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01687:Slc44a2
|
APN |
9 |
21,257,243 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01786:Slc44a2
|
APN |
9 |
21,263,782 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01795:Slc44a2
|
APN |
9 |
21,256,645 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02701:Slc44a2
|
APN |
9 |
21,259,247 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02820:Slc44a2
|
APN |
9 |
21,254,273 (GRCm39) |
missense |
probably benign |
|
IGL03087:Slc44a2
|
APN |
9 |
21,258,061 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03153:Slc44a2
|
APN |
9 |
21,254,496 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03233:Slc44a2
|
APN |
9 |
21,259,918 (GRCm39) |
missense |
possibly damaging |
0.95 |
freighted
|
UTSW |
9 |
21,253,265 (GRCm39) |
missense |
probably null |
0.08 |
Loaded
|
UTSW |
9 |
21,259,445 (GRCm39) |
critical splice donor site |
probably null |
|
R1177:Slc44a2
|
UTSW |
9 |
21,259,879 (GRCm39) |
missense |
probably benign |
0.00 |
R1367:Slc44a2
|
UTSW |
9 |
21,254,322 (GRCm39) |
missense |
probably benign |
0.00 |
R1474:Slc44a2
|
UTSW |
9 |
21,264,990 (GRCm39) |
missense |
probably damaging |
0.99 |
R2077:Slc44a2
|
UTSW |
9 |
21,265,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R2432:Slc44a2
|
UTSW |
9 |
21,256,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R3722:Slc44a2
|
UTSW |
9 |
21,254,273 (GRCm39) |
missense |
possibly damaging |
0.78 |
R3958:Slc44a2
|
UTSW |
9 |
21,259,837 (GRCm39) |
missense |
probably damaging |
0.96 |
R4557:Slc44a2
|
UTSW |
9 |
21,258,079 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4641:Slc44a2
|
UTSW |
9 |
21,258,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R4725:Slc44a2
|
UTSW |
9 |
21,259,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R4859:Slc44a2
|
UTSW |
9 |
21,259,441 (GRCm39) |
missense |
probably damaging |
0.98 |
R6701:Slc44a2
|
UTSW |
9 |
21,232,149 (GRCm39) |
critical splice donor site |
probably null |
|
R7068:Slc44a2
|
UTSW |
9 |
21,232,144 (GRCm39) |
missense |
probably benign |
0.00 |
R7206:Slc44a2
|
UTSW |
9 |
21,258,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R7233:Slc44a2
|
UTSW |
9 |
21,259,445 (GRCm39) |
critical splice donor site |
probably null |
|
R7287:Slc44a2
|
UTSW |
9 |
21,253,752 (GRCm39) |
missense |
probably benign |
|
R7329:Slc44a2
|
UTSW |
9 |
21,254,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R7432:Slc44a2
|
UTSW |
9 |
21,254,511 (GRCm39) |
missense |
probably benign |
0.00 |
R7442:Slc44a2
|
UTSW |
9 |
21,256,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Slc44a2
|
UTSW |
9 |
21,259,642 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7514:Slc44a2
|
UTSW |
9 |
21,253,768 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7523:Slc44a2
|
UTSW |
9 |
21,257,288 (GRCm39) |
missense |
probably null |
0.81 |
R8167:Slc44a2
|
UTSW |
9 |
21,258,068 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8211:Slc44a2
|
UTSW |
9 |
21,259,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R8240:Slc44a2
|
UTSW |
9 |
21,253,481 (GRCm39) |
missense |
probably benign |
|
R8293:Slc44a2
|
UTSW |
9 |
21,264,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R8294:Slc44a2
|
UTSW |
9 |
21,259,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R8341:Slc44a2
|
UTSW |
9 |
21,253,495 (GRCm39) |
missense |
probably benign |
0.00 |
R8471:Slc44a2
|
UTSW |
9 |
21,253,265 (GRCm39) |
missense |
probably null |
0.08 |
R8732:Slc44a2
|
UTSW |
9 |
21,259,882 (GRCm39) |
missense |
probably benign |
0.01 |
R8892:Slc44a2
|
UTSW |
9 |
21,253,153 (GRCm39) |
splice site |
probably benign |
|
R9019:Slc44a2
|
UTSW |
9 |
21,265,077 (GRCm39) |
missense |
probably damaging |
0.99 |
R9149:Slc44a2
|
UTSW |
9 |
21,253,305 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9318:Slc44a2
|
UTSW |
9 |
21,253,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R9322:Slc44a2
|
UTSW |
9 |
21,258,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R9449:Slc44a2
|
UTSW |
9 |
21,258,333 (GRCm39) |
missense |
|
|
R9731:Slc44a2
|
UTSW |
9 |
21,263,770 (GRCm39) |
missense |
possibly damaging |
0.90 |
X0018:Slc44a2
|
UTSW |
9 |
21,254,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |