Incidental Mutation 'R9019:Slc44a2'
| ID |
686610 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a2
|
| Ensembl Gene |
ENSMUSG00000057193 |
| Gene Name |
solute carrier family 44, member 2 |
| Synonyms |
CTL2, 1110028E10Rik |
| MMRRC Submission |
068849-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21232015-21266324 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21265077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 705
(E705G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034697]
[ENSMUST00000215574]
[ENSMUST00000217461]
|
| AlphaFold |
Q8BY89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034697
AA Change: E705G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: E705G
| 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 |
probably benign
Transcript: ENSMUST00000213535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214268
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215574
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217461
AA Change: E703G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,011,522 (GRCm39) |
T1174S |
|
Het |
| Aoc2 |
C |
T |
11: 101,216,262 (GRCm39) |
P115L |
possibly damaging |
Het |
| Arhgef19 |
C |
T |
4: 140,973,738 (GRCm39) |
P75L |
probably benign |
Het |
| Atad3a |
A |
G |
4: 155,838,052 (GRCm39) |
V240A |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,508,973 (GRCm39) |
L317* |
probably null |
Het |
| Bdkrb1 |
T |
C |
12: 105,570,700 (GRCm39) |
S89P |
probably damaging |
Het |
| Bpifb4 |
T |
A |
2: 153,790,607 (GRCm39) |
L166* |
probably null |
Het |
| Ccdc27 |
A |
G |
4: 154,124,014 (GRCm39) |
V173A |
unknown |
Het |
| Ccl8 |
T |
C |
11: 82,006,877 (GRCm39) |
V30A |
probably benign |
Het |
| Cdc16 |
C |
T |
8: 13,831,501 (GRCm39) |
A578V |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,959,365 (GRCm39) |
Y423C |
probably damaging |
Het |
| Cyp3a44 |
T |
C |
5: 145,727,519 (GRCm39) |
D270G |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,532,730 (GRCm39) |
E1656G |
unknown |
Het |
| Eppk1 |
A |
G |
15: 75,992,472 (GRCm39) |
F1470L |
probably benign |
Het |
| Fbxw16 |
T |
A |
9: 109,270,135 (GRCm39) |
D202V |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,811,840 (GRCm39) |
T330I |
probably benign |
Het |
| Gm36864 |
A |
T |
7: 43,887,028 (GRCm39) |
Q307L |
probably benign |
Het |
| Gm37240 |
T |
C |
3: 84,426,946 (GRCm39) |
E38G |
probably damaging |
Het |
| Gm6871 |
A |
T |
7: 41,195,262 (GRCm39) |
C492S |
probably damaging |
Het |
| Gnaq |
T |
C |
19: 16,355,638 (GRCm39) |
Y285H |
probably benign |
Het |
| Htt |
T |
A |
5: 35,023,920 (GRCm39) |
F1723I |
probably damaging |
Het |
| Il21r |
G |
A |
7: 125,231,472 (GRCm39) |
S300N |
probably damaging |
Het |
| Itm2b |
G |
A |
14: 73,605,856 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,425,754 (GRCm39) |
S1100P |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,963,415 (GRCm39) |
I269T |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,488,208 (GRCm39) |
A4635V |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,847,546 (GRCm39) |
D38E |
probably damaging |
Het |
| Lgr5 |
A |
C |
10: 115,314,454 (GRCm39) |
L161R |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,368,914 (GRCm39) |
I923N |
probably benign |
Het |
| Mrgprh |
T |
C |
17: 13,096,200 (GRCm39) |
S147P |
probably damaging |
Het |
| Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
| Nsmaf |
A |
T |
4: 6,418,523 (GRCm39) |
S427R |
probably damaging |
Het |
| Or8g53 |
G |
T |
9: 39,684,038 (GRCm39) |
D19E |
probably benign |
Het |
| Pdcd11 |
G |
T |
19: 47,101,658 (GRCm39) |
G948C |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,375,612 (GRCm39) |
Y1508H |
probably damaging |
Het |
| Prmt5 |
G |
T |
14: 54,753,564 (GRCm39) |
A105E |
probably benign |
Het |
| Prr23a3 |
T |
C |
9: 98,747,213 (GRCm39) |
S56P |
probably damaging |
Het |
| Sostdc1 |
A |
T |
12: 36,364,431 (GRCm39) |
N47Y |
probably benign |
Het |
| Speg |
T |
C |
1: 75,405,882 (GRCm39) |
Y3029H |
probably damaging |
Het |
| Srd5a1 |
G |
A |
13: 69,748,413 (GRCm39) |
R129* |
probably null |
Het |
| Srrm4 |
A |
G |
5: 116,605,586 (GRCm39) |
S224P |
unknown |
Het |
| Syne2 |
A |
G |
12: 75,999,618 (GRCm39) |
E2337G |
possibly damaging |
Het |
| Tmem150c |
C |
A |
5: 100,240,958 (GRCm39) |
V32L |
probably benign |
Het |
| Topaz1 |
T |
C |
9: 122,619,192 (GRCm39) |
I1263T |
possibly damaging |
Het |
| Ttc39d |
C |
T |
17: 80,523,349 (GRCm39) |
R3W |
probably benign |
Het |
| Xylt1 |
T |
C |
7: 117,250,038 (GRCm39) |
|
probably null |
Het |
| Zfp933 |
A |
T |
4: 147,911,021 (GRCm39) |
C192S |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,761,119 (GRCm39) |
G129D |
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 |
|
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 |
|
|
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'- TTGTTGCTTTCTAACCCTGAGG -3'
(R):5'- GCATAGGAAAGAGATGCCCC -3'
Sequencing Primer
(F):5'- AACCCTGAGGCTTTTCTATAGC -3'
(R):5'- CAGTCCTCTAGGTTCCTGGAAATG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation