Incidental Mutation 'IGL02820:Slc44a2'
ID |
360949 |
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 # |
IGL02820
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
21232015-21266324 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 21254273 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 212
(I212V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150147
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034697]
[ENSMUST00000215574]
[ENSMUST00000217461]
|
AlphaFold |
Q8BY89 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034697
AA Change: I214V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034697 Gene: ENSMUSG00000057193 AA Change: I214V
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: I212V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216266
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217461
AA Change: I212V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9030624G23Rik |
T |
C |
12: 24,124,417 (GRCm39) |
Y86C |
probably benign |
Het |
Adgra2 |
G |
A |
8: 27,607,535 (GRCm39) |
V47M |
probably damaging |
Het |
Anks1b |
T |
C |
10: 89,912,921 (GRCm39) |
C349R |
possibly damaging |
Het |
Anks4b |
A |
T |
7: 119,781,914 (GRCm39) |
|
probably benign |
Het |
Apobec2 |
A |
G |
17: 48,730,295 (GRCm39) |
S124P |
probably damaging |
Het |
Brd8 |
G |
A |
18: 34,740,354 (GRCm39) |
S493L |
probably benign |
Het |
Cbln3 |
A |
G |
14: 56,120,944 (GRCm39) |
Y126H |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,364,721 (GRCm39) |
|
probably benign |
Het |
Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
Ceacam2 |
T |
A |
7: 25,219,411 (GRCm39) |
H283L |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,392,699 (GRCm39) |
|
probably benign |
Het |
Clasp1 |
A |
G |
1: 118,478,834 (GRCm39) |
D718G |
possibly damaging |
Het |
Clmn |
A |
T |
12: 104,739,493 (GRCm39) |
Y979N |
probably damaging |
Het |
Ddias |
T |
C |
7: 92,508,551 (GRCm39) |
T455A |
probably benign |
Het |
Dennd5b |
T |
C |
6: 148,920,840 (GRCm39) |
R851G |
probably null |
Het |
Dock1 |
T |
C |
7: 134,768,944 (GRCm39) |
V1771A |
probably benign |
Het |
Dysf |
T |
A |
6: 84,077,187 (GRCm39) |
L694Q |
probably damaging |
Het |
Faim2 |
T |
C |
15: 99,419,138 (GRCm39) |
Y77C |
probably benign |
Het |
Fbxw22 |
A |
T |
9: 109,215,732 (GRCm39) |
I172N |
probably damaging |
Het |
Fhad1 |
C |
T |
4: 141,646,069 (GRCm39) |
D298N |
probably benign |
Het |
Fyb1 |
T |
G |
15: 6,688,040 (GRCm39) |
V800G |
possibly damaging |
Het |
Gcm1 |
T |
C |
9: 77,971,844 (GRCm39) |
F262L |
probably benign |
Het |
Gm21983 |
T |
C |
7: 26,879,605 (GRCm39) |
M121V |
probably benign |
Het |
Gm9996 |
A |
T |
10: 29,019,657 (GRCm39) |
|
probably benign |
Het |
Gstm3 |
A |
T |
3: 107,876,074 (GRCm39) |
|
probably benign |
Het |
Gsto2 |
G |
T |
19: 47,863,398 (GRCm39) |
E91D |
probably damaging |
Het |
Hs6st3 |
G |
T |
14: 119,376,492 (GRCm39) |
M222I |
possibly damaging |
Het |
Ighv3-6 |
T |
C |
12: 114,251,850 (GRCm39) |
D90G |
probably damaging |
Het |
Itgb1bp1 |
C |
T |
12: 21,326,854 (GRCm39) |
A40T |
possibly damaging |
Het |
Kcns3 |
C |
T |
12: 11,141,872 (GRCm39) |
E276K |
probably benign |
Het |
Lamc3 |
C |
T |
2: 31,813,034 (GRCm39) |
R1007C |
probably damaging |
Het |
Lnx2 |
A |
T |
5: 146,978,877 (GRCm39) |
M125K |
probably damaging |
Het |
Lyst |
T |
A |
13: 13,812,643 (GRCm39) |
N1018K |
probably benign |
Het |
Mctp2 |
T |
A |
7: 71,895,290 (GRCm39) |
S186C |
probably damaging |
Het |
Or1j20 |
A |
T |
2: 36,759,871 (GRCm39) |
T98S |
probably benign |
Het |
Polg |
T |
C |
7: 79,109,519 (GRCm39) |
T433A |
possibly damaging |
Het |
Rdh13 |
C |
T |
7: 4,438,059 (GRCm39) |
V127M |
probably damaging |
Het |
Rdh16 |
A |
G |
10: 127,649,470 (GRCm39) |
T309A |
probably benign |
Het |
Reep5 |
A |
T |
18: 34,506,312 (GRCm39) |
D21E |
probably benign |
Het |
Rptn |
A |
T |
3: 93,304,227 (GRCm39) |
N520I |
probably benign |
Het |
Rttn |
T |
C |
18: 89,047,122 (GRCm39) |
L928P |
probably damaging |
Het |
Snupn |
A |
G |
9: 56,870,332 (GRCm39) |
T71A |
probably benign |
Het |
Ssu2 |
T |
C |
6: 112,359,353 (GRCm39) |
N89S |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,321,071 (GRCm39) |
S1535P |
probably damaging |
Het |
Tmt1a |
C |
A |
15: 100,202,933 (GRCm39) |
S51* |
probably null |
Het |
Uba7 |
A |
T |
9: 107,858,715 (GRCm39) |
S849C |
probably benign |
Het |
Vmn2r80 |
A |
G |
10: 79,007,439 (GRCm39) |
T472A |
probably benign |
Het |
Wdr6 |
A |
G |
9: 108,455,743 (GRCm39) |
I17T |
probably benign |
Het |
Xkr9 |
G |
A |
1: 13,771,173 (GRCm39) |
V230I |
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 |
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 |
2015-12-18 |