Incidental Mutation 'IGL01795:Slc44a2'
| ID |
155322 |
| 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 # |
IGL01795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21232015-21266324 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 21256645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 336
(K336Q)
|
| 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: K338Q
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: K338Q
| 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 damaging
Transcript: ENSMUST00000215574
AA Change: K336Q
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217461
AA Change: K336Q
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,895,093 (GRCm39) |
R263* |
probably null |
Het |
| Arfgef1 |
A |
T |
1: 10,217,753 (GRCm39) |
I1562K |
probably benign |
Het |
| B4galt1 |
T |
A |
4: 40,807,760 (GRCm39) |
D347V |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,152,175 (GRCm39) |
R646S |
probably benign |
Het |
| Ccr1 |
A |
T |
9: 123,764,149 (GRCm39) |
L127* |
probably null |
Het |
| Cd109 |
A |
G |
9: 78,569,047 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,803,294 (GRCm39) |
V2128A |
probably benign |
Het |
| Chil6 |
T |
A |
3: 106,296,108 (GRCm39) |
I376F |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,076,167 (GRCm39) |
S275P |
probably damaging |
Het |
| Dnaaf8 |
T |
G |
16: 4,791,935 (GRCm39) |
|
noncoding transcript |
Het |
| Erap1 |
T |
A |
13: 74,814,209 (GRCm39) |
|
probably null |
Het |
| F5 |
T |
C |
1: 164,021,959 (GRCm39) |
V1478A |
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,925,904 (GRCm39) |
V3703F |
probably damaging |
Het |
| Hmmr |
C |
T |
11: 40,612,561 (GRCm39) |
M185I |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,403,733 (GRCm39) |
Y8C |
probably damaging |
Het |
| Krt16 |
A |
G |
11: 100,138,550 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,050,749 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
C |
T |
1: 127,396,968 (GRCm39) |
R572W |
probably damaging |
Het |
| Neil2 |
T |
C |
14: 63,426,199 (GRCm39) |
D57G |
probably benign |
Het |
| Nom1 |
A |
G |
5: 29,651,869 (GRCm39) |
T736A |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,584,731 (GRCm39) |
M46L |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,814,478 (GRCm39) |
I98N |
probably damaging |
Het |
| Or6p1 |
A |
T |
1: 174,258,215 (GRCm39) |
I74F |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,989,189 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,308 (GRCm39) |
S1224P |
probably benign |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,908,501 (GRCm39) |
T1754I |
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,520,390 (GRCm39) |
S596G |
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 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation