Incidental Mutation 'IGL03087:Slc44a2'
ID |
418169 |
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 # |
IGL03087
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
21232015-21266324 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 21258061 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 435
(T435I)
|
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: T437I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000034697 Gene: ENSMUSG00000057193 AA Change: T437I
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 benign
Transcript: ENSMUST00000215574
AA Change: T435I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217461
AA Change: T435I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216266
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500035N22Rik |
C |
T |
5: 25,202,630 (GRCm39) |
|
probably benign |
Het |
Acbd5 |
A |
G |
2: 22,979,722 (GRCm39) |
T261A |
probably benign |
Het |
Ap1g2 |
G |
A |
14: 55,340,493 (GRCm39) |
T331I |
probably damaging |
Het |
Ap4m1 |
A |
G |
5: 138,173,066 (GRCm39) |
T150A |
probably benign |
Het |
Arid4a |
G |
T |
12: 71,122,019 (GRCm39) |
R478L |
possibly damaging |
Het |
Bard1 |
T |
C |
1: 71,106,289 (GRCm39) |
D446G |
probably damaging |
Het |
Baz2a |
T |
C |
10: 127,958,182 (GRCm39) |
L1087P |
probably damaging |
Het |
Bnc1 |
A |
G |
7: 81,624,390 (GRCm39) |
L279P |
possibly damaging |
Het |
Bphl |
A |
T |
13: 34,257,694 (GRCm39) |
H275L |
probably damaging |
Het |
Ces1c |
T |
C |
8: 93,845,042 (GRCm39) |
I120V |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,840,429 (GRCm39) |
Y946F |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 31,003,118 (GRCm39) |
V3606I |
probably benign |
Het |
Eef2 |
A |
G |
10: 81,017,081 (GRCm39) |
N696S |
probably benign |
Het |
Eno4 |
A |
G |
19: 58,951,248 (GRCm39) |
H420R |
possibly damaging |
Het |
Enpp1 |
T |
A |
10: 24,531,779 (GRCm39) |
|
probably benign |
Het |
Fbxo25 |
T |
C |
8: 13,974,019 (GRCm39) |
|
probably null |
Het |
Glt8d1 |
T |
A |
14: 30,732,053 (GRCm39) |
F155I |
probably damaging |
Het |
Golim4 |
A |
T |
3: 75,785,980 (GRCm39) |
H598Q |
possibly damaging |
Het |
Hnrnpdl |
T |
A |
5: 100,185,460 (GRCm39) |
E149D |
probably damaging |
Het |
Ifngr2 |
G |
T |
16: 91,359,892 (GRCm39) |
*333L |
probably null |
Het |
Ift88 |
T |
C |
14: 57,715,414 (GRCm39) |
S486P |
probably benign |
Het |
Igsf9 |
T |
C |
1: 172,318,310 (GRCm39) |
I150T |
probably benign |
Het |
Jag2 |
G |
A |
12: 112,877,568 (GRCm39) |
L670F |
possibly damaging |
Het |
Kcnc2 |
T |
A |
10: 112,291,652 (GRCm39) |
I280N |
probably benign |
Het |
Kif18a |
A |
G |
2: 109,148,462 (GRCm39) |
|
probably benign |
Het |
Lct |
A |
G |
1: 128,228,112 (GRCm39) |
L1127P |
possibly damaging |
Het |
Lonrf1 |
A |
T |
8: 36,692,705 (GRCm39) |
|
probably null |
Het |
Lyst |
T |
A |
13: 13,809,641 (GRCm39) |
I437N |
probably damaging |
Het |
Map3k1 |
A |
G |
13: 111,885,559 (GRCm39) |
S1453P |
probably benign |
Het |
Mcmdc2 |
A |
G |
1: 10,001,170 (GRCm39) |
M482V |
possibly damaging |
Het |
Mical1 |
T |
C |
10: 41,358,686 (GRCm39) |
S535P |
probably damaging |
Het |
Myh3 |
T |
C |
11: 66,981,798 (GRCm39) |
F765L |
probably damaging |
Het |
Nat8f6 |
A |
T |
6: 85,785,499 (GRCm39) |
Y217N |
probably damaging |
Het |
Ndufaf1 |
A |
G |
2: 119,486,280 (GRCm39) |
|
probably benign |
Het |
Neurod6 |
A |
T |
6: 55,655,760 (GRCm39) |
C292* |
probably null |
Het |
Or12j3 |
T |
A |
7: 139,953,005 (GRCm39) |
I173F |
probably damaging |
Het |
Or4c12b |
A |
G |
2: 89,647,015 (GRCm39) |
E109G |
probably damaging |
Het |
Or5j1 |
A |
T |
2: 86,879,356 (GRCm39) |
S75T |
possibly damaging |
Het |
Or6c76 |
A |
T |
10: 129,612,130 (GRCm39) |
M116L |
probably damaging |
Het |
Or7g16 |
T |
C |
9: 18,727,380 (GRCm39) |
D70G |
probably damaging |
Het |
Pcdhac2 |
A |
G |
18: 37,278,735 (GRCm39) |
N572D |
probably damaging |
Het |
Pfpl |
A |
G |
19: 12,406,241 (GRCm39) |
N164S |
probably benign |
Het |
Pi4kb |
A |
G |
3: 94,892,075 (GRCm39) |
R264G |
probably benign |
Het |
Pla2g2c |
T |
A |
4: 138,458,923 (GRCm39) |
F10I |
probably benign |
Het |
Rag2 |
G |
A |
2: 101,460,559 (GRCm39) |
V290I |
probably benign |
Het |
Rhot2 |
G |
A |
17: 26,060,115 (GRCm39) |
|
probably benign |
Het |
Rps6kc1 |
T |
C |
1: 190,603,908 (GRCm39) |
Y238C |
probably damaging |
Het |
Scyl2 |
G |
T |
10: 89,488,830 (GRCm39) |
A495D |
possibly damaging |
Het |
Septin4 |
T |
A |
11: 87,476,071 (GRCm39) |
|
probably benign |
Het |
Serpina5 |
G |
T |
12: 104,067,992 (GRCm39) |
A18S |
probably benign |
Het |
Slc25a11 |
T |
C |
11: 70,536,033 (GRCm39) |
T234A |
probably benign |
Het |
Tekt2 |
T |
A |
4: 126,218,660 (GRCm39) |
Q31L |
possibly damaging |
Het |
Tfpi |
A |
G |
2: 84,274,389 (GRCm39) |
V199A |
possibly damaging |
Het |
Trap1 |
G |
T |
16: 3,862,565 (GRCm39) |
|
probably null |
Het |
Trmt1 |
A |
G |
8: 85,421,862 (GRCm39) |
Y213C |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,177,668 (GRCm39) |
R3184* |
probably null |
Het |
Uroc1 |
G |
T |
6: 90,340,085 (GRCm39) |
|
probably benign |
Het |
Vmn1r19 |
A |
G |
6: 57,381,476 (GRCm39) |
I10V |
probably benign |
Het |
Zfhx2 |
G |
A |
14: 55,310,302 (GRCm39) |
A748V |
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 |
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 |
|
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 |
2016-08-02 |