Incidental Mutation 'R8341:Slc44a2'
| ID |
644900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a2
|
| Ensembl Gene |
ENSMUSG00000057193 |
| Gene Name |
solute carrier family 44, member 2 |
| Synonyms |
CTL2, 1110028E10Rik |
| MMRRC Submission |
067865-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8341 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21232015-21266324 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21253495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 88
(F88L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034697]
[ENSMUST00000215574]
[ENSMUST00000217461]
|
| AlphaFold |
Q8BY89 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034697
AA Change: F88L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: F88L
| 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 |
possibly damaging
Transcript: ENSMUST00000215574
AA Change: F86L
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217461
AA Change: F86L
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (57/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,845,876 (GRCm39) |
I915F |
probably damaging |
Het |
| Adam11 |
C |
A |
11: 102,667,362 (GRCm39) |
H641N |
probably damaging |
Het |
| Amfr |
A |
G |
8: 94,725,806 (GRCm39) |
S192P |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,682,247 (GRCm39) |
N676I |
possibly damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,224,553 (GRCm39) |
V1428I |
probably benign |
Het |
| B3gnt9 |
C |
T |
8: 105,980,497 (GRCm39) |
R297H |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,108 (GRCm39) |
A36V |
possibly damaging |
Het |
| C1s1 |
C |
T |
6: 124,508,115 (GRCm39) |
A625T |
probably damaging |
Het |
| Camkmt |
T |
C |
17: 85,747,008 (GRCm39) |
L251P |
probably damaging |
Het |
| Ceacam15 |
C |
A |
7: 16,405,928 (GRCm39) |
V208F |
probably benign |
Het |
| Clp1 |
T |
C |
2: 84,554,117 (GRCm39) |
K351E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,561,547 (GRCm39) |
Y1343C |
|
Het |
| Cubn |
C |
A |
2: 13,433,535 (GRCm39) |
G1125V |
probably damaging |
Het |
| Dpp4 |
C |
T |
2: 62,178,234 (GRCm39) |
V633I |
probably benign |
Het |
| Eif2ak1 |
A |
T |
5: 143,821,755 (GRCm39) |
D357V |
probably benign |
Het |
| Fez1 |
T |
C |
9: 36,787,605 (GRCm39) |
M370T |
possibly damaging |
Het |
| Frk |
G |
A |
10: 34,462,279 (GRCm39) |
E257K |
probably damaging |
Het |
| Gm7579 |
T |
A |
7: 141,765,856 (GRCm39) |
C87* |
probably null |
Het |
| Henmt1 |
T |
C |
3: 108,865,908 (GRCm39) |
V211A |
probably damaging |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Ints9 |
T |
A |
14: 65,273,863 (GRCm39) |
V556E |
probably benign |
Het |
| Itprid2 |
A |
T |
2: 79,488,062 (GRCm39) |
K715I |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,500,868 (GRCm39) |
S110P |
probably benign |
Het |
| Klrk1 |
T |
C |
6: 129,599,663 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,704,451 (GRCm39) |
S1215C |
probably damaging |
Het |
| Lyn |
T |
C |
4: 3,743,304 (GRCm39) |
|
probably null |
Het |
| Map2k5 |
T |
A |
9: 63,246,380 (GRCm39) |
N116Y |
probably damaging |
Het |
| Map3k13 |
G |
T |
16: 21,740,334 (GRCm39) |
E554* |
probably null |
Het |
| Map6 |
A |
G |
7: 98,917,647 (GRCm39) |
E140G |
possibly damaging |
Het |
| Mpv17 |
A |
C |
5: 31,311,447 (GRCm39) |
|
probably null |
Het |
| Myo1c |
C |
T |
11: 75,562,253 (GRCm39) |
P883S |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,116,979 (GRCm39) |
M914V |
probably benign |
Het |
| Olfm2 |
C |
T |
9: 20,583,918 (GRCm39) |
|
probably null |
Het |
| Or2b4 |
G |
A |
17: 38,116,543 (GRCm39) |
C169Y |
probably damaging |
Het |
| Osbpl7 |
T |
G |
11: 96,950,989 (GRCm39) |
L612R |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,892,133 (GRCm39) |
M2012L |
possibly damaging |
Het |
| Ppp1r7 |
G |
A |
1: 93,274,000 (GRCm39) |
D59N |
probably benign |
Het |
| Ppp4r3c2 |
A |
T |
X: 88,798,322 (GRCm39) |
K718M |
probably damaging |
Het |
| Ptbp1 |
A |
C |
10: 79,699,045 (GRCm39) |
E534D |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,619,820 (GRCm39) |
Y241H |
probably damaging |
Het |
| Rbx1 |
T |
C |
15: 81,358,078 (GRCm39) |
L88P |
probably damaging |
Het |
| Rft1 |
T |
C |
14: 30,411,838 (GRCm39) |
L462P |
probably damaging |
Het |
| Serpinb9f |
T |
A |
13: 33,511,290 (GRCm39) |
L77* |
probably null |
Het |
| Shisa9 |
T |
C |
16: 11,815,015 (GRCm39) |
M221T |
possibly damaging |
Het |
| Slc12a2 |
T |
G |
18: 58,012,281 (GRCm39) |
F135V |
possibly damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Snx21 |
A |
G |
2: 164,633,805 (GRCm39) |
E197G |
probably damaging |
Het |
| Srarp |
T |
C |
4: 141,160,707 (GRCm39) |
D42G |
possibly damaging |
Het |
| St6galnac1 |
T |
A |
11: 116,659,714 (GRCm39) |
M200L |
probably benign |
Het |
| Stambpl1 |
A |
T |
19: 34,211,401 (GRCm39) |
Q154L |
probably benign |
Het |
| Szt2 |
G |
T |
4: 118,250,033 (GRCm39) |
R492S |
possibly damaging |
Het |
| Thbs3 |
G |
A |
3: 89,132,698 (GRCm39) |
R880Q |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,340,199 (GRCm39) |
L473H |
probably damaging |
Het |
| Ttc4 |
A |
G |
4: 106,522,893 (GRCm39) |
S342P |
probably benign |
Het |
| Uckl1 |
T |
A |
2: 181,211,512 (GRCm39) |
M463L |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,688,192 (GRCm39) |
S2397P |
possibly damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,128 (GRCm39) |
H728L |
probably benign |
Het |
| Vsig10l |
T |
C |
7: 43,113,378 (GRCm39) |
V110A |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,354,564 (GRCm39) |
L61* |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,843,989 (GRCm39) |
Y1009C |
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 |
|
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 |
|
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'- ATCAGGACAGAGACGCCATC -3'
Sequencing Primer
(F):5'- CCGGGGCGAATTCTGTG -3'
(R):5'- AGAGACGCCATCCGGGAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation