Incidental Mutation 'R8333:Slc45a3'
| ID |
644458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc45a3
|
| Ensembl Gene |
ENSMUSG00000026435 |
| Gene Name |
solute carrier family 45, member 3 |
| Synonyms |
Pcanap6, 2210413P12Rik, IPCA-6 |
| MMRRC Submission |
067861-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8333 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
131890705-131910707 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 131905928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 317
(Y317C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027695]
[ENSMUST00000177943]
[ENSMUST00000190322]
|
| AlphaFold |
Q8K0H7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027695
AA Change: Y317C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027695
Gene: ENSMUSG00000026435
AA Change: Y317C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
18 |
306 |
1.2e-12 |
PFAM |
|
Pfam:MFS_2
|
21 |
408 |
5.4e-11 |
PFAM |
|
transmembrane domain
|
520 |
542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177943
AA Change: Y317C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136190
Gene: ENSMUSG00000026435
AA Change: Y317C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
18 |
306 |
1.5e-12 |
PFAM |
|
Pfam:MFS_2
|
19 |
239 |
2.4e-13 |
PFAM |
|
transmembrane domain
|
320 |
342 |
N/A |
INTRINSIC |
|
transmembrane domain
|
355 |
377 |
N/A |
INTRINSIC |
|
transmembrane domain
|
382 |
404 |
N/A |
INTRINSIC |
|
transmembrane domain
|
520 |
542 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190322
|
| SMART Domains |
Protein: ENSMUSP00000140767
Gene: ENSMUSG00000026435
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_2
|
20 |
218 |
3.3e-9 |
PFAM |
|
Pfam:MFS_1
|
51 |
219 |
1.7e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo2 |
T |
C |
15: 97,143,166 (GRCm39) |
T419A |
probably damaging |
Het |
| Baiap2l1 |
A |
C |
5: 144,217,691 (GRCm39) |
I298M |
possibly damaging |
Het |
| BC005624 |
G |
T |
2: 30,863,748 (GRCm39) |
A245D |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,150,390 (GRCm39) |
I2527F |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,915,615 (GRCm39) |
H786R |
possibly damaging |
Het |
| Cerkl |
A |
G |
2: 79,168,922 (GRCm39) |
V427A |
possibly damaging |
Het |
| Cfap43 |
G |
T |
19: 47,885,765 (GRCm39) |
C283* |
probably null |
Het |
| Chfr |
G |
A |
5: 110,302,803 (GRCm39) |
A455T |
probably benign |
Het |
| Cldn13 |
T |
A |
5: 134,943,850 (GRCm39) |
I112F |
possibly damaging |
Het |
| Cyb5rl |
T |
A |
4: 106,925,875 (GRCm39) |
V19E |
probably benign |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,828,295 (GRCm39) |
C568S |
probably benign |
Het |
| Ecm2 |
T |
C |
13: 49,671,859 (GRCm39) |
L120P |
probably damaging |
Het |
| Gpr156 |
T |
C |
16: 37,812,416 (GRCm39) |
S251P |
probably damaging |
Het |
| Gpr182 |
T |
C |
10: 127,585,790 (GRCm39) |
N387S |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,291,595 (GRCm39) |
V834A |
possibly damaging |
Het |
| Igkv8-34 |
T |
C |
6: 70,021,337 (GRCm39) |
S42G |
probably benign |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,527,587 (GRCm39) |
D208V |
probably benign |
Het |
| Lrrc9 |
C |
T |
12: 72,528,317 (GRCm39) |
T872I |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,279,245 (GRCm39) |
|
probably null |
Het |
| Mrpl13 |
A |
G |
15: 55,420,679 (GRCm39) |
M1T |
probably null |
Het |
| Ncapg |
C |
T |
5: 45,831,805 (GRCm39) |
T217I |
probably damaging |
Het |
| Nim1k |
G |
A |
13: 120,174,022 (GRCm39) |
P291S |
probably damaging |
Het |
| Or8c11 |
G |
A |
9: 38,289,912 (GRCm39) |
G239D |
probably damaging |
Het |
| Or8k31-ps1 |
A |
T |
2: 86,356,415 (GRCm39) |
Y35* |
probably null |
Het |
| Padi6 |
T |
C |
4: 140,464,687 (GRCm39) |
M181V |
probably damaging |
Het |
| Pax7 |
T |
A |
4: 139,557,514 (GRCm39) |
I86F |
probably damaging |
Het |
| Pbk |
T |
A |
14: 66,054,680 (GRCm39) |
Y271N |
probably benign |
Het |
| Rabgap1 |
C |
T |
2: 37,385,710 (GRCm39) |
P492L |
probably benign |
Het |
| Rhno1 |
G |
T |
6: 128,334,728 (GRCm39) |
D198E |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,514,191 (GRCm39) |
I292L |
probably benign |
Het |
| Slc40a1 |
T |
C |
1: 45,950,439 (GRCm39) |
S338G |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,532,270 (GRCm39) |
S2842R |
probably benign |
Het |
| Tle2 |
C |
T |
10: 81,413,518 (GRCm39) |
T119I |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,553,938 (GRCm39) |
V30922I |
possibly damaging |
Het |
| Usp33 |
C |
T |
3: 152,080,297 (GRCm39) |
P476L |
probably damaging |
Het |
| Wdr38 |
T |
C |
2: 38,889,361 (GRCm39) |
Y51H |
probably damaging |
Het |
|
| Other mutations in Slc45a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00962:Slc45a3
|
APN |
1 |
131,905,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01626:Slc45a3
|
APN |
1 |
131,906,725 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01677:Slc45a3
|
APN |
1 |
131,906,708 (GRCm39) |
missense |
probably damaging |
0.99 |
|
F6893:Slc45a3
|
UTSW |
1 |
131,909,075 (GRCm39) |
missense |
probably benign |
|
|
R0122:Slc45a3
|
UTSW |
1 |
131,905,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:Slc45a3
|
UTSW |
1 |
131,905,265 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1596:Slc45a3
|
UTSW |
1 |
131,909,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1647:Slc45a3
|
UTSW |
1 |
131,905,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1752:Slc45a3
|
UTSW |
1 |
131,905,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Slc45a3
|
UTSW |
1 |
131,904,694 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1776:Slc45a3
|
UTSW |
1 |
131,904,694 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2071:Slc45a3
|
UTSW |
1 |
131,905,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Slc45a3
|
UTSW |
1 |
131,905,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4230:Slc45a3
|
UTSW |
1 |
131,909,399 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4876:Slc45a3
|
UTSW |
1 |
131,909,285 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4906:Slc45a3
|
UTSW |
1 |
131,909,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5265:Slc45a3
|
UTSW |
1 |
131,905,932 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5964:Slc45a3
|
UTSW |
1 |
131,905,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6849:Slc45a3
|
UTSW |
1 |
131,905,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7483:Slc45a3
|
UTSW |
1 |
131,904,549 (GRCm39) |
start gained |
probably benign |
|
|
R8104:Slc45a3
|
UTSW |
1 |
131,904,754 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8322:Slc45a3
|
UTSW |
1 |
131,905,523 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9011:Slc45a3
|
UTSW |
1 |
131,905,714 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9035:Slc45a3
|
UTSW |
1 |
131,909,187 (GRCm39) |
frame shift |
probably null |
|
|
R9101:Slc45a3
|
UTSW |
1 |
131,905,175 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTCCGGAATCTGGGTAC -3'
(R):5'- AGCCCTACTGAGTCACCAAG -3'
Sequencing Primer
(F):5'- TGTTTCCCCGGCTGCAG -3'
(R):5'- CAGCAGCAGTGTTCATGAGCTAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation