Incidental Mutation 'R4557:Slc44a2'
ID |
341907 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc44a2
|
Ensembl Gene |
ENSMUSG00000057193 |
Gene Name |
solute carrier family 44, member 2 |
Synonyms |
CTL2, 1110028E10Rik |
MMRRC Submission |
041784-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4557 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
21232015-21266324 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 21258079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 443
(L443R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034697
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034697]
[ENSMUST00000215574]
[ENSMUST00000217461]
|
AlphaFold |
Q8BY89 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034697
AA Change: L443R
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034697 Gene: ENSMUSG00000057193 AA Change: L443R
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 |
possibly damaging
Transcript: ENSMUST00000215574
AA Change: L441R
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217461
AA Change: L441R
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217453
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216266
|
Meta Mutation Damage Score |
0.0658 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (49/50) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
Acad11 |
T |
C |
9: 103,960,038 (GRCm39) |
F219L |
probably benign |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
Adamts3 |
A |
G |
5: 89,848,346 (GRCm39) |
Y659H |
probably benign |
Het |
Adgrb3 |
T |
C |
1: 25,123,360 (GRCm39) |
R1414G |
probably damaging |
Het |
Apba1 |
T |
A |
19: 23,894,956 (GRCm39) |
I464N |
probably damaging |
Het |
Bahcc1 |
A |
G |
11: 120,165,914 (GRCm39) |
T1057A |
probably damaging |
Het |
Bcl11a |
A |
G |
11: 24,114,004 (GRCm39) |
E449G |
probably damaging |
Het |
Ccdc162 |
T |
A |
10: 41,463,384 (GRCm39) |
I1453L |
probably benign |
Het |
Ccdc175 |
T |
A |
12: 72,175,080 (GRCm39) |
E531V |
probably benign |
Het |
Cep68 |
A |
T |
11: 20,189,113 (GRCm39) |
|
probably benign |
Het |
Dlgap1 |
C |
A |
17: 70,823,684 (GRCm39) |
T223K |
probably benign |
Het |
Exoc1 |
G |
A |
5: 76,709,290 (GRCm39) |
V24M |
probably damaging |
Het |
Fbxo4 |
A |
G |
15: 3,995,187 (GRCm39) |
*386R |
probably null |
Het |
Gm10100 |
G |
A |
10: 77,562,365 (GRCm39) |
|
probably benign |
Het |
Gpr149 |
A |
G |
3: 62,438,291 (GRCm39) |
V622A |
probably damaging |
Het |
Gpr149 |
A |
C |
3: 62,511,918 (GRCm39) |
M27R |
probably benign |
Het |
Ighv3-6 |
T |
C |
12: 114,251,818 (GRCm39) |
N101D |
probably benign |
Het |
Igkv4-78 |
A |
G |
6: 69,036,755 (GRCm39) |
S93P |
possibly damaging |
Het |
Kmt2c |
A |
T |
5: 25,505,313 (GRCm39) |
W3332R |
probably damaging |
Het |
Marf1 |
T |
C |
16: 13,971,841 (GRCm39) |
|
probably benign |
Het |
Mcrs1 |
A |
G |
15: 99,141,028 (GRCm39) |
I459T |
probably benign |
Het |
Mdn1 |
G |
T |
4: 32,754,437 (GRCm39) |
C4646F |
probably damaging |
Het |
Med17 |
T |
C |
9: 15,182,993 (GRCm39) |
K351E |
possibly damaging |
Het |
Nalcn |
T |
C |
14: 123,558,647 (GRCm39) |
|
probably benign |
Het |
Or14j8 |
C |
A |
17: 38,263,142 (GRCm39) |
A258S |
probably benign |
Het |
Or1e29 |
G |
A |
11: 73,667,307 (GRCm39) |
T282I |
possibly damaging |
Het |
Or1r1 |
A |
T |
11: 73,875,425 (GRCm39) |
V3E |
probably benign |
Het |
Or6c69 |
A |
G |
10: 129,747,398 (GRCm39) |
Y250H |
probably damaging |
Het |
Phrf1 |
C |
T |
7: 140,838,842 (GRCm39) |
|
probably benign |
Het |
Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
Prdm16 |
T |
A |
4: 154,613,284 (GRCm39) |
M48L |
probably benign |
Het |
Ptpn13 |
A |
G |
5: 103,688,976 (GRCm39) |
E923G |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,414,886 (GRCm39) |
S2075R |
possibly damaging |
Het |
Sft2d2 |
A |
G |
1: 165,011,553 (GRCm39) |
C114R |
probably damaging |
Het |
Sipa1l2 |
T |
G |
8: 126,191,154 (GRCm39) |
R945S |
probably damaging |
Het |
Slc12a1 |
A |
G |
2: 125,028,561 (GRCm39) |
N517S |
probably damaging |
Het |
Smok4a |
T |
C |
17: 13,746,643 (GRCm39) |
|
noncoding transcript |
Het |
Snx18 |
A |
G |
13: 113,754,364 (GRCm39) |
S190P |
probably damaging |
Het |
Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
Ttc27 |
T |
G |
17: 75,136,544 (GRCm39) |
S584A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,779,359 (GRCm39) |
Y1174N |
probably damaging |
Het |
Zbtb44 |
T |
G |
9: 30,975,544 (GRCm39) |
S391R |
probably 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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATACTTTTGCTTCTAGGACCTGTC -3'
(R):5'- AAAATCTTGGATCAGTGGCCCG -3'
Sequencing Primer
(F):5'- GTCCTTGGTCTAGCCTCAGC -3'
(R):5'- AGAAGAGGTCCCTGCATCC -3'
|
Posted On |
2015-09-24 |