Incidental Mutation 'IGL03153:Slc44a2'
| ID |
411144 |
| 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 # |
IGL03153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21232015-21266324 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21254496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 257
(I257T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034697]
[ENSMUST00000215574]
[ENSMUST00000217461]
|
| AlphaFold |
Q8BY89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034697
AA Change: I259T
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: I259T
| 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 |
noncoding transcript
Transcript: ENSMUST00000213758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215528
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215574
AA Change: I257T
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216266
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217461
AA Change: I257T
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217453
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
G |
4: 62,465,563 (GRCm39) |
E419G |
possibly damaging |
Het |
| Abcg3 |
A |
G |
5: 105,122,631 (GRCm39) |
|
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,395,698 (GRCm39) |
D256G |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,570,978 (GRCm39) |
R500* |
probably null |
Het |
| Aldh3a2 |
A |
G |
11: 61,149,665 (GRCm39) |
Y234H |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,743,143 (GRCm39) |
T987A |
probably benign |
Het |
| Amtn |
A |
G |
5: 88,532,828 (GRCm39) |
K148E |
possibly damaging |
Het |
| Asap1 |
G |
A |
15: 64,032,123 (GRCm39) |
T237M |
probably damaging |
Het |
| Ccdc124 |
A |
T |
8: 71,321,573 (GRCm39) |
|
probably null |
Het |
| Cdon |
T |
C |
9: 35,389,255 (GRCm39) |
Y787H |
probably damaging |
Het |
| Cimip4 |
T |
C |
15: 78,269,516 (GRCm39) |
D188G |
probably damaging |
Het |
| Coro7 |
A |
G |
16: 4,453,246 (GRCm39) |
|
probably null |
Het |
| Dram2 |
T |
A |
3: 106,462,490 (GRCm39) |
|
probably benign |
Het |
| Drd5 |
T |
C |
5: 38,477,124 (GRCm39) |
V39A |
probably benign |
Het |
| Ern1 |
A |
G |
11: 106,300,924 (GRCm39) |
L490P |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,483,160 (GRCm39) |
T3083A |
possibly damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,094 (GRCm39) |
I239T |
probably damaging |
Het |
| Klhl10 |
A |
T |
11: 100,347,758 (GRCm39) |
T605S |
probably benign |
Het |
| Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
| Lgi4 |
G |
T |
7: 30,759,983 (GRCm39) |
V60F |
probably damaging |
Het |
| Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
| Lmf1 |
A |
G |
17: 25,804,624 (GRCm39) |
S97G |
possibly damaging |
Het |
| Oasl2 |
A |
G |
5: 115,039,393 (GRCm39) |
T194A |
probably benign |
Het |
| Or5ac17 |
A |
G |
16: 59,036,566 (GRCm39) |
S137P |
probably benign |
Het |
| Pnpo |
A |
T |
11: 96,834,661 (GRCm39) |
F12I |
probably damaging |
Het |
| Prdm4 |
T |
C |
10: 85,743,860 (GRCm39) |
T132A |
probably benign |
Het |
| Ptbp2 |
T |
C |
3: 119,545,593 (GRCm39) |
T118A |
probably benign |
Het |
| Ptf1a |
T |
A |
2: 19,451,456 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,682,874 (GRCm39) |
F331I |
probably damaging |
Het |
| Rfx6 |
C |
A |
10: 51,599,217 (GRCm39) |
S524* |
probably null |
Het |
| Scube3 |
A |
G |
17: 28,386,032 (GRCm39) |
S758G |
possibly damaging |
Het |
| Spon1 |
A |
T |
7: 113,629,579 (GRCm39) |
I408F |
probably damaging |
Het |
| Srpk1 |
C |
A |
17: 28,811,240 (GRCm39) |
D541Y |
possibly damaging |
Het |
| Tenm4 |
A |
T |
7: 96,522,969 (GRCm39) |
I1467F |
probably damaging |
Het |
| Uggt1 |
A |
C |
1: 36,241,899 (GRCm39) |
V345G |
possibly damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,902,917 (GRCm39) |
I287K |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,239,280 (GRCm39) |
|
probably benign |
Het |
| Zeb1 |
A |
G |
18: 5,770,511 (GRCm39) |
D888G |
probably damaging |
Het |
| Zfp263 |
A |
G |
16: 3,564,744 (GRCm39) |
N253S |
possibly damaging |
Het |
| Zfp446 |
C |
A |
7: 12,711,834 (GRCm39) |
A19E |
probably benign |
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 |
|
IGL02338:Slc44a2
|
APN |
9 |
21,258,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation