Incidental Mutation 'R8240:Slc44a2'
| ID |
640913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a2
|
| Ensembl Gene |
ENSMUSG00000057193 |
| Gene Name |
solute carrier family 44, member 2 |
| Synonyms |
CTL2, 1110028E10Rik |
| MMRRC Submission |
067671-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8240 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21232015-21266324 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21253481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 83
(D83G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034697]
|
| AlphaFold |
Q8BY89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034697
AA Change: D83G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: D83G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610524H06Rik |
A |
T |
5: 114,961,472 (GRCm39) |
V12E |
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,741,082 (GRCm39) |
F997L |
probably benign |
Het |
| Baiap3 |
A |
T |
17: 25,464,288 (GRCm39) |
|
probably null |
Het |
| Cct6b |
A |
G |
11: 82,614,650 (GRCm39) |
I446T |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,728,902 (GRCm39) |
M1T |
probably null |
Het |
| Clca4a |
T |
C |
3: 144,676,488 (GRCm39) |
Y64C |
probably damaging |
Het |
| Col24a1 |
A |
T |
3: 145,213,457 (GRCm39) |
Q1354L |
probably benign |
Het |
| Coro7 |
A |
G |
16: 4,486,660 (GRCm39) |
V171A |
probably damaging |
Het |
| Cyp3a44 |
G |
A |
5: 145,725,257 (GRCm39) |
L315F |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,874,485 (GRCm39) |
D1379V |
probably benign |
Het |
| Gstm6 |
T |
A |
3: 107,849,453 (GRCm39) |
D119V |
probably damaging |
Het |
| Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
| Hibch |
T |
A |
1: 52,940,494 (GRCm39) |
|
probably null |
Het |
| Il1rap |
G |
A |
16: 26,520,001 (GRCm39) |
E356K |
probably benign |
Het |
| Itm2c |
G |
T |
1: 85,822,457 (GRCm39) |
G25C |
probably benign |
Het |
| Klhl8 |
C |
T |
5: 104,015,392 (GRCm39) |
V511I |
probably damaging |
Het |
| Mcee |
A |
G |
7: 64,061,665 (GRCm39) |
H156R |
possibly damaging |
Het |
| Myh3 |
C |
A |
11: 66,983,196 (GRCm39) |
Q908K |
probably benign |
Het |
| Ncoa7 |
A |
G |
10: 30,567,725 (GRCm39) |
S318P |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,402,487 (GRCm39) |
N1208D |
probably benign |
Het |
| Or10p21 |
T |
A |
10: 128,847,766 (GRCm39) |
I204K |
possibly damaging |
Het |
| Or4a15 |
C |
T |
2: 89,192,896 (GRCm39) |
M292I |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,793,096 (GRCm39) |
P140S |
probably damaging |
Het |
| Plcd4 |
C |
G |
1: 74,593,660 (GRCm39) |
H262D |
probably benign |
Het |
| Prps1l1 |
T |
C |
12: 35,035,140 (GRCm39) |
V85A |
probably damaging |
Het |
| Prss27 |
G |
A |
17: 24,263,919 (GRCm39) |
V202I |
probably benign |
Het |
| Rtn4r |
A |
T |
16: 17,969,258 (GRCm39) |
M229L |
probably benign |
Het |
| Slc43a1 |
A |
G |
2: 84,690,167 (GRCm39) |
H491R |
possibly damaging |
Het |
| Spag6l |
A |
G |
16: 16,580,889 (GRCm39) |
V486A |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,460,436 (GRCm39) |
Q3408L |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,624,388 (GRCm39) |
D1854G |
probably benign |
Het |
| Tjp3 |
G |
A |
10: 81,109,641 (GRCm39) |
T854I |
probably benign |
Het |
| Tmsb10b |
A |
C |
7: 24,561,805 (GRCm39) |
I35L |
probably benign |
Het |
| Trim30a |
C |
T |
7: 104,070,663 (GRCm39) |
G250D |
probably benign |
Het |
| Ttll1 |
G |
T |
15: 83,376,783 (GRCm39) |
D313E |
probably damaging |
Het |
| Zfp160 |
A |
T |
17: 21,246,350 (GRCm39) |
N300I |
probably damaging |
Het |
| Zfp458 |
C |
T |
13: 67,406,190 (GRCm39) |
C83Y |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,798,188 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATCTACCCCACTGATAGCC -3'
(R):5'- GAATCAGGACAGAGACGCCATC -3'
Sequencing Primer
(F):5'- CCGGGGCGAATTCTGTG -3'
(R):5'- AGAGACGCCATCCGGGAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation