Incidental Mutation 'R0668:Slc44a3'
| ID |
62089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a3
|
| Ensembl Gene |
ENSMUSG00000039865 |
| Gene Name |
solute carrier family 44, member 3 |
| Synonyms |
|
| MMRRC Submission |
038853-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0668 (G1)
|
| Quality Score |
105 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
121253177-121325993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121303852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 295
(T295A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039197]
|
| AlphaFold |
Q921V7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039197
AA Change: T295A
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: T295A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,302,773 (GRCm39) |
Q2149K |
probably damaging |
Het |
| Aifm1 |
T |
C |
X: 47,583,668 (GRCm39) |
Q210R |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,607,345 (GRCm39) |
N31D |
possibly damaging |
Het |
| Asic5 |
T |
A |
3: 81,928,308 (GRCm39) |
Y424N |
probably damaging |
Het |
| Bltp3a |
A |
T |
17: 28,114,913 (GRCm39) |
I1408F |
probably benign |
Het |
| Cfb |
G |
T |
17: 35,076,079 (GRCm39) |
Q1176K |
probably benign |
Het |
| Chdh |
A |
G |
14: 29,757,837 (GRCm39) |
H447R |
probably damaging |
Het |
| Cpd |
A |
C |
11: 76,675,224 (GRCm39) |
V1299G |
probably damaging |
Het |
| Dnase1l3 |
A |
G |
14: 7,968,086 (GRCm38) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,344,958 (GRCm39) |
T2101A |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,611,318 (GRCm39) |
I387F |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,846,127 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gm10549 |
A |
G |
18: 33,603,903 (GRCm39) |
T129A |
unknown |
Het |
| Jph1 |
T |
A |
1: 17,161,895 (GRCm39) |
T256S |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,417,563 (GRCm39) |
Y768H |
probably damaging |
Het |
| Lcmt1 |
G |
A |
7: 123,002,094 (GRCm39) |
D120N |
probably damaging |
Het |
| Ly6g6d |
G |
A |
17: 35,290,715 (GRCm39) |
H72Y |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
| Or10c1 |
T |
A |
17: 37,522,535 (GRCm39) |
I70F |
probably damaging |
Het |
| Pira13 |
G |
A |
7: 3,825,699 (GRCm39) |
T390I |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,434,284 (GRCm39) |
Y249C |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,130,948 (GRCm39) |
Y322H |
probably damaging |
Het |
| Slc4a5 |
T |
A |
6: 83,248,054 (GRCm39) |
L535Q |
probably damaging |
Het |
| Them5 |
A |
T |
3: 94,251,720 (GRCm39) |
K110N |
probably benign |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,644 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,667 (GRCm39) |
M42K |
probably benign |
Het |
| Zfp143 |
A |
T |
7: 109,660,481 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R5835:Slc44a3
|
UTSW |
3 |
121,320,849 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- GCCCTTCACCCACGAATTGCTTAG -3'
(R):5'- AACCTGGCTTGGCACAGATCAC -3'
Sequencing Primer
(F):5'- ACGAATTGCTTAGCCTTCTCTG -3'
(R):5'- ACAGTGGTTGTATTtgtgtgtg -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation