Incidental Mutation 'R4641:Slc44a2'
| ID |
351642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a2
|
| Ensembl Gene |
ENSMUSG00000057193 |
| Gene Name |
solute carrier family 44, member 2 |
| Synonyms |
CTL2, 1110028E10Rik |
| MMRRC Submission |
041903-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4641 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21232015-21266324 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21258178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 474
(Y474C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034697]
[ENSMUST00000215574]
[ENSMUST00000217461]
|
| AlphaFold |
Q8BY89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034697
AA Change: Y476C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: Y476C
| 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: Y474C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217461
AA Change: Y474C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216266
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
A |
10: 79,841,615 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,653,615 (GRCm39) |
F54I |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,045,892 (GRCm39) |
S619L |
probably benign |
Het |
| Eif1ad3 |
A |
G |
12: 87,843,446 (GRCm39) |
Y31C |
probably damaging |
Het |
| Eif1ad5 |
A |
G |
12: 87,946,852 (GRCm39) |
D98G |
probably benign |
Het |
| Erlec1 |
G |
A |
11: 30,898,442 (GRCm39) |
Q10* |
probably null |
Het |
| Fbxw14 |
A |
G |
9: 109,107,750 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
C |
T |
8: 106,056,224 (GRCm39) |
R1163H |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
G |
A |
1: 166,311,462 (GRCm39) |
P466S |
probably damaging |
Het |
| Ift122 |
A |
T |
6: 115,865,726 (GRCm39) |
K339* |
probably null |
Het |
| Il6st |
T |
C |
13: 112,625,064 (GRCm39) |
S227P |
probably damaging |
Het |
| Letmd1 |
A |
G |
15: 100,375,708 (GRCm39) |
Y198C |
probably damaging |
Het |
| Map3k4 |
A |
T |
17: 12,482,932 (GRCm39) |
L595Q |
probably damaging |
Het |
| Mdc1 |
C |
G |
17: 36,168,361 (GRCm39) |
R1656G |
probably benign |
Het |
| Megf11 |
C |
T |
9: 64,597,407 (GRCm39) |
S662L |
possibly damaging |
Het |
| Mrps25 |
T |
C |
6: 92,160,881 (GRCm39) |
E25G |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,085,520 (GRCm39) |
G1815C |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,393,867 (GRCm39) |
D2353G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| P2rx5 |
A |
T |
11: 73,058,390 (GRCm39) |
H275L |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Rnf123 |
T |
C |
9: 107,935,786 (GRCm39) |
D920G |
probably damaging |
Het |
| Slc9a4 |
T |
A |
1: 40,646,285 (GRCm39) |
F439I |
probably damaging |
Het |
| Snap91 |
A |
G |
9: 86,761,528 (GRCm39) |
V26A |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,182,862 (GRCm39) |
Q135K |
probably benign |
Het |
| Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 98,110,114 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,166,809 (GRCm39) |
I669T |
probably benign |
Het |
| Tmem273 |
A |
G |
14: 32,528,839 (GRCm39) |
D68G |
probably damaging |
Het |
| Ttc38 |
T |
C |
15: 85,728,659 (GRCm39) |
S204P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,617,155 (GRCm39) |
Y16403F |
probably damaging |
Het |
| Ttyh2 |
G |
T |
11: 114,592,609 (GRCm39) |
W213L |
probably damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,610,755 (GRCm39) |
D360E |
probably damaging |
Het |
| Vwa5b2 |
A |
T |
16: 20,423,393 (GRCm39) |
H1102L |
probably damaging |
Het |
| Zbtb41 |
A |
T |
1: 139,370,557 (GRCm39) |
T665S |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,828 (GRCm39) |
I1739V |
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 |
|
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'- TTCCCCTTGCGGAATGAGAG -3'
(R):5'- TCACTCGGATGATCTGCACG -3'
Sequencing Primer
(F):5'- AATGAGAGCCTCCAGTGTCC -3'
(R):5'- TGATCTGCACGATGGCTAAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation