Incidental Mutation 'R5835:Slc44a3'
| ID |
449526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a3
|
| Ensembl Gene |
ENSMUSG00000039865 |
| Gene Name |
solute carrier family 44, member 3 |
| Synonyms |
|
| MMRRC Submission |
044056-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5835 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
121253177-121325993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 121320849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 51
(I51L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039197]
|
| AlphaFold |
Q921V7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039197
AA Change: I51L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: I51L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
transmembrane domain
|
217 |
239 |
N/A |
INTRINSIC |
|
transmembrane domain
|
244 |
266 |
N/A |
INTRINSIC |
|
Pfam:Choline_transpo
|
291 |
607 |
2.3e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199889
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| A2m |
A |
G |
6: 121,616,295 (GRCm39) |
K141R |
probably damaging |
Het |
| Ablim3 |
T |
C |
18: 61,956,993 (GRCm39) |
E278G |
probably damaging |
Het |
| Adam28 |
A |
G |
14: 68,893,130 (GRCm39) |
W4R |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,742,230 (GRCm39) |
N614S |
possibly damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,230,964 (GRCm39) |
S1182P |
probably damaging |
Het |
| Asb8 |
A |
T |
15: 98,034,263 (GRCm39) |
D97E |
probably damaging |
Het |
| AU041133 |
T |
A |
10: 81,987,046 (GRCm39) |
L232H |
probably damaging |
Het |
| Bmp2k |
T |
G |
5: 97,204,841 (GRCm39) |
V392G |
possibly damaging |
Het |
| Capn12 |
C |
A |
7: 28,581,383 (GRCm39) |
H79N |
probably benign |
Het |
| Casp2 |
C |
A |
6: 42,244,520 (GRCm39) |
S54R |
possibly damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,288,740 (GRCm39) |
S163P |
possibly damaging |
Het |
| Ccdc92b |
A |
G |
11: 74,528,838 (GRCm39) |
E114G |
probably benign |
Het |
| Cd209c |
C |
A |
8: 3,995,699 (GRCm39) |
M34I |
probably benign |
Het |
| Ceacam18 |
A |
T |
7: 43,286,382 (GRCm39) |
H85L |
probably benign |
Het |
| Cndp1 |
C |
A |
18: 84,630,958 (GRCm39) |
A434S |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,851,129 (GRCm39) |
T1581S |
probably benign |
Het |
| Cyb5d2 |
A |
T |
11: 72,680,036 (GRCm39) |
D86E |
probably damaging |
Het |
| Duox1 |
T |
G |
2: 122,158,341 (GRCm39) |
V608G |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,649,844 (GRCm39) |
R425G |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,287,129 (GRCm39) |
I798N |
probably damaging |
Het |
| Habp2 |
T |
A |
19: 56,295,218 (GRCm39) |
D36E |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 95,118,867 (GRCm39) |
V207A |
probably damaging |
Het |
| Htt |
A |
G |
5: 34,970,534 (GRCm39) |
I561V |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Igkv18-36 |
A |
G |
6: 69,969,512 (GRCm39) |
I93T |
probably damaging |
Het |
| Kalrn |
T |
G |
16: 33,807,461 (GRCm39) |
E2636A |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,460,960 (GRCm39) |
|
probably null |
Het |
| Mep1a |
G |
A |
17: 43,789,055 (GRCm39) |
H574Y |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,187,864 (GRCm39) |
K1197E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,892,907 (GRCm39) |
T6780A |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,932,953 (GRCm39) |
V4808M |
probably damaging |
Het |
| Or6c210 |
A |
G |
10: 129,495,803 (GRCm39) |
I43V |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,307 (GRCm39) |
D3082G |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,604,943 (GRCm39) |
M1645V |
probably benign |
Het |
| Ppip5k1 |
A |
G |
2: 121,168,380 (GRCm39) |
V674A |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,096,485 (GRCm39) |
S619T |
probably benign |
Het |
| Rab44 |
A |
T |
17: 29,367,212 (GRCm39) |
H714L |
probably benign |
Het |
| Rybp |
A |
G |
6: 100,210,151 (GRCm39) |
Y70H |
possibly damaging |
Het |
| Sfrp1 |
A |
G |
8: 23,936,260 (GRCm39) |
K234R |
possibly damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,607,795 (GRCm39) |
N481S |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,149,004 (GRCm39) |
F569S |
possibly damaging |
Het |
| Smurf2 |
A |
T |
11: 106,726,974 (GRCm39) |
N451K |
probably damaging |
Het |
| Sptbn2 |
T |
A |
19: 4,788,247 (GRCm39) |
D1075E |
probably damaging |
Het |
| Syngap1 |
A |
T |
17: 27,177,192 (GRCm39) |
H65L |
probably benign |
Het |
| Tdrd12 |
T |
C |
7: 35,228,689 (GRCm39) |
D11G |
probably damaging |
Het |
| Tex2 |
C |
T |
11: 106,410,739 (GRCm39) |
A926T |
unknown |
Het |
| Tm7sf2 |
A |
G |
19: 6,113,914 (GRCm39) |
F209S |
probably damaging |
Het |
| Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
| Virma |
T |
A |
4: 11,514,036 (GRCm39) |
L630H |
probably damaging |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,747 (GRCm39) |
I117T |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,454,917 (GRCm39) |
R1373L |
unknown |
Het |
|
| Other mutations in Slc44a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:Slc44a3
|
APN |
3 |
121,320,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01527:Slc44a3
|
APN |
3 |
121,320,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02304:Slc44a3
|
APN |
3 |
121,320,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02419:Slc44a3
|
APN |
3 |
121,283,906 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02836:Slc44a3
|
APN |
3 |
121,325,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Slc44a3
|
APN |
3 |
121,303,970 (GRCm39) |
splice site |
probably benign |
|
|
IGL03219:Slc44a3
|
APN |
3 |
121,257,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Slc44a3
|
UTSW |
3 |
121,306,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
BB019:Slc44a3
|
UTSW |
3 |
121,306,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0597:Slc44a3
|
UTSW |
3 |
121,253,719 (GRCm39) |
missense |
probably benign |
|
|
R0668:Slc44a3
|
UTSW |
3 |
121,303,852 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1355:Slc44a3
|
UTSW |
3 |
121,325,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:Slc44a3
|
UTSW |
3 |
121,291,496 (GRCm39) |
nonsense |
probably null |
|
|
R1617:Slc44a3
|
UTSW |
3 |
121,254,914 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1912:Slc44a3
|
UTSW |
3 |
121,325,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2027:Slc44a3
|
UTSW |
3 |
121,257,059 (GRCm39) |
splice site |
probably benign |
|
|
R2087:Slc44a3
|
UTSW |
3 |
121,319,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2199:Slc44a3
|
UTSW |
3 |
121,307,393 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4707:Slc44a3
|
UTSW |
3 |
121,320,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4736:Slc44a3
|
UTSW |
3 |
121,303,855 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4784:Slc44a3
|
UTSW |
3 |
121,320,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4785:Slc44a3
|
UTSW |
3 |
121,320,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5302:Slc44a3
|
UTSW |
3 |
121,303,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6252:Slc44a3
|
UTSW |
3 |
121,307,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6991:Slc44a3
|
UTSW |
3 |
121,325,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7197:Slc44a3
|
UTSW |
3 |
121,319,411 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7227:Slc44a3
|
UTSW |
3 |
121,303,879 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7272:Slc44a3
|
UTSW |
3 |
121,254,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7932:Slc44a3
|
UTSW |
3 |
121,306,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8104:Slc44a3
|
UTSW |
3 |
121,291,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8529:Slc44a3
|
UTSW |
3 |
121,319,334 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8679:Slc44a3
|
UTSW |
3 |
121,283,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Slc44a3
|
UTSW |
3 |
121,307,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9053:Slc44a3
|
UTSW |
3 |
121,320,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9121:Slc44a3
|
UTSW |
3 |
121,254,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9360:Slc44a3
|
UTSW |
3 |
121,325,908 (GRCm39) |
start gained |
probably benign |
|
|
Z1176:Slc44a3
|
UTSW |
3 |
121,325,900 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Slc44a3
|
UTSW |
3 |
121,291,399 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAAGTCGGAGCCCTAACC -3'
(R):5'- AAGGTGACAGCCTCTTGAAG -3'
Sequencing Primer
(F):5'- GGAGTTCTTCTTGCCACA -3'
(R):5'- TGACAGCCTCTTGAAGAAGAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation