Incidental Mutation 'R9121:Slc44a3'
| ID |
692768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc44a3
|
| Ensembl Gene |
ENSMUSG00000039865 |
| Gene Name |
solute carrier family 44, member 3 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9121 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
121253177-121325993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121254786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 611
(S611P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029773]
[ENSMUST00000039197]
[ENSMUST00000197135]
[ENSMUST00000198393]
|
| AlphaFold |
Q921V7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029773
|
| SMART Domains |
Protein: ENSMUSP00000029773
Gene: ENSMUSG00000053931
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
28 |
125 |
3.92e-27 |
SMART |
|
Pfam:Calponin
|
164 |
188 |
1.1e-19 |
PFAM |
|
Pfam:Calponin
|
204 |
228 |
7.4e-17 |
PFAM |
|
Pfam:Calponin
|
243 |
267 |
1.8e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039197
AA Change: S611P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: S611P
| 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 |
probably benign
Transcript: ENSMUST00000197135
|
| SMART Domains |
Protein: ENSMUSP00000142526
Gene: ENSMUSG00000053931
| Domain | Start | End | E-Value | Type |
|---|
|
CH
|
28 |
120 |
8.6e-10 |
SMART |
|
Pfam:Calponin
|
158 |
183 |
1e-10 |
PFAM |
|
Pfam:Calponin
|
197 |
222 |
9.6e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198393
|
| SMART Domains |
Protein: ENSMUSP00000143186
Gene: ENSMUSG00000053931
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CH
|
1 |
28 |
7e-12 |
BLAST |
|
SCOP:d1h67a_
|
1 |
35 |
9e-9 |
SMART |
|
PDB:1WYN|A
|
1 |
53 |
3e-21 |
PDB |
|
Pfam:Calponin
|
67 |
92 |
1.2e-14 |
PFAM |
|
Pfam:Calponin
|
107 |
132 |
3.8e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199499
|
| Meta Mutation Damage Score |
0.0826 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
T |
13: 68,820,078 (GRCm39) |
N720K |
probably benign |
Het |
| Ampd1 |
C |
T |
3: 103,005,998 (GRCm39) |
Q603* |
probably null |
Het |
| Arap2 |
G |
A |
5: 62,906,326 (GRCm39) |
T231M |
possibly damaging |
Het |
| Atp2b4 |
TCT |
TCTGCT |
1: 133,629,463 (GRCm39) |
|
probably benign |
Het |
| Cap1 |
C |
T |
4: 122,761,516 (GRCm39) |
R122Q |
probably damaging |
Het |
| Cdh10 |
G |
A |
15: 19,011,074 (GRCm39) |
V586M |
probably damaging |
Het |
| Clvs2 |
A |
T |
10: 33,389,331 (GRCm39) |
V303E |
possibly damaging |
Het |
| Cnnm3 |
C |
A |
1: 36,563,158 (GRCm39) |
C707* |
probably null |
Het |
| Crtc3 |
A |
G |
7: 80,242,323 (GRCm39) |
F497L |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,683,774 (GRCm39) |
Y949C |
|
Het |
| D5Ertd579e |
A |
T |
5: 36,772,778 (GRCm39) |
I539N |
probably damaging |
Het |
| Dctpp1 |
T |
C |
7: 126,856,456 (GRCm39) |
R89G |
probably damaging |
Het |
| Dnah7c |
T |
A |
1: 46,704,650 (GRCm39) |
V2221E |
probably damaging |
Het |
| Dnah7c |
C |
A |
1: 46,816,896 (GRCm39) |
L3628I |
probably benign |
Het |
| E030025P04Rik |
A |
G |
11: 109,034,738 (GRCm39) |
F50S |
unknown |
Het |
| Edrf1 |
CGG |
CG |
7: 133,258,770 (GRCm39) |
|
probably null |
Het |
| Epb41l1 |
T |
G |
2: 156,364,487 (GRCm39) |
S999A |
probably benign |
Het |
| Fbxw10 |
T |
A |
11: 62,738,153 (GRCm39) |
C16S |
possibly damaging |
Het |
| Fbxw19 |
G |
A |
9: 109,324,890 (GRCm39) |
P9L |
probably damaging |
Het |
| Gpi1 |
A |
T |
7: 33,907,114 (GRCm39) |
Y327N |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,525,195 (GRCm39) |
L637P |
probably damaging |
Het |
| Idh3a |
T |
C |
9: 54,493,829 (GRCm39) |
|
probably null |
Het |
| Ighv1-56 |
T |
A |
12: 115,206,634 (GRCm39) |
T47S |
probably benign |
Het |
| Iglc2 |
A |
C |
16: 19,017,294 (GRCm39) |
C103G |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,148,102 (GRCm39) |
T771A |
possibly damaging |
Het |
| Mcm2 |
C |
A |
6: 88,861,019 (GRCm39) |
R893L |
probably benign |
Het |
| Mettl15 |
A |
T |
2: 109,104,948 (GRCm39) |
V19E |
|
Het |
| Mier2 |
G |
A |
10: 79,377,594 (GRCm39) |
A453V |
|
Het |
| Mlf1 |
T |
C |
3: 67,307,054 (GRCm39) |
S255P |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,482,636 (GRCm39) |
D78G |
possibly damaging |
Het |
| Or5w14 |
T |
A |
2: 87,541,975 (GRCm39) |
I92F |
probably damaging |
Het |
| Or8b55 |
T |
A |
9: 38,726,976 (GRCm39) |
M59K |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,536,462 (GRCm39) |
K1340E |
probably benign |
Het |
| Pla2g4c |
A |
G |
7: 13,091,010 (GRCm39) |
D589G |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,235,156 (GRCm39) |
V278A |
probably damaging |
Het |
| Qrich2 |
T |
A |
11: 116,347,272 (GRCm39) |
H1184L |
unknown |
Het |
| Rnaset2a |
A |
G |
17: 8,347,549 (GRCm39) |
F250S |
possibly damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,190,356 (GRCm39) |
Y32C |
probably damaging |
Het |
| Slco1a1 |
C |
A |
6: 141,892,542 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,040,599 (GRCm39) |
D225V |
probably damaging |
Het |
| Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
| Trim7 |
T |
A |
11: 48,740,674 (GRCm39) |
L257Q |
probably damaging |
Het |
| Trpm8 |
T |
A |
1: 88,312,423 (GRCm39) |
N1101K |
probably benign |
Het |
| Unc79 |
C |
T |
12: 102,968,095 (GRCm39) |
T107M |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,631,523 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,756,946 (GRCm39) |
Y1150* |
probably null |
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 |
|
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 |
|
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'- ATTCTCACCTCTGGACTGGG -3'
(R):5'- TGATGGCGTTTAACTACAGCC -3'
Sequencing Primer
(F):5'- GAAATGGTTCCTCGTCTGACAGC -3'
(R):5'- GTTTAACTACAGCCGTGCG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation