Incidental Mutation 'R0030:Slc66a1'
| ID |
15363 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc66a1
|
| Ensembl Gene |
ENSMUSG00000028744 |
| Gene Name |
solute carrier family 66 member 1 |
| Synonyms |
Pqlc2 |
| MMRRC Submission |
038324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R0030 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
139021340-139038019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139033764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 52
(S52P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053862]
[ENSMUST00000073787]
[ENSMUST00000105801]
[ENSMUST00000139840]
[ENSMUST00000141007]
[ENSMUST00000172747]
|
| AlphaFold |
Q8C4N4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053862
AA Change: S52P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059772
Gene: ENSMUSG00000028744
AA Change: S52P
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
51 |
83 |
8.63e-4 |
SMART |
|
transmembrane domain
|
132 |
149 |
N/A |
INTRINSIC |
|
CTNS
|
197 |
228 |
1.15e-8 |
SMART |
|
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073787
|
| SMART Domains |
Protein: ENSMUSP00000073459
Gene: ENSMUSG00000028743
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
47 |
N/A |
INTRINSIC |
|
Pfam:Aldo_ket_red
|
48 |
356 |
4.4e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105801
AA Change: S52P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101427
Gene: ENSMUSG00000028744
AA Change: S52P
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
51 |
83 |
8.63e-4 |
SMART |
|
transmembrane domain
|
132 |
149 |
N/A |
INTRINSIC |
|
CTNS
|
197 |
228 |
1.15e-8 |
SMART |
|
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139840
AA Change: S52P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121362
Gene: ENSMUSG00000028744
AA Change: S52P
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
51 |
83 |
8.63e-4 |
SMART |
|
transmembrane domain
|
132 |
149 |
N/A |
INTRINSIC |
|
CTNS
|
197 |
228 |
1.15e-8 |
SMART |
|
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141007
AA Change: S52P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172747
AA Change: S52P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134464
Gene: ENSMUSG00000028744
AA Change: S52P
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
51 |
83 |
8.63e-4 |
SMART |
|
transmembrane domain
|
132 |
149 |
N/A |
INTRINSIC |
|
CTNS
|
197 |
228 |
1.15e-8 |
SMART |
|
transmembrane domain
|
251 |
273 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2186 |
| Coding Region Coverage |
- 1x: 78.5%
- 3x: 68.6%
- 10x: 42.5%
- 20x: 22.6%
|
| Validation Efficiency |
97% (72/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
A |
C |
6: 140,583,473 (GRCm39) |
S316R |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,822,456 (GRCm39) |
S1250P |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,022,727 (GRCm39) |
|
probably null |
Het |
| Cass4 |
G |
T |
2: 172,269,762 (GRCm39) |
E617* |
probably null |
Het |
| Cct4 |
T |
C |
11: 22,951,357 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
C |
T |
1: 110,065,798 (GRCm39) |
Q691* |
probably null |
Het |
| Crip1 |
G |
A |
12: 113,116,996 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,451,663 (GRCm39) |
D4367V |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,789,512 (GRCm39) |
V1514A |
possibly damaging |
Het |
| Eps15l1 |
A |
G |
8: 73,126,894 (GRCm39) |
S646P |
probably benign |
Het |
| Faap24 |
A |
T |
7: 35,092,285 (GRCm39) |
F211I |
probably damaging |
Het |
| Flrt3 |
A |
T |
2: 140,502,237 (GRCm39) |
Y464N |
probably damaging |
Het |
| Foxi2 |
A |
G |
7: 135,013,345 (GRCm39) |
T192A |
probably damaging |
Het |
| Gm7298 |
T |
A |
6: 121,751,009 (GRCm39) |
F695L |
probably benign |
Het |
| Ifnk |
T |
G |
4: 35,152,489 (GRCm39) |
V139G |
probably benign |
Het |
| Kif18a |
A |
T |
2: 109,163,663 (GRCm39) |
I671L |
probably benign |
Het |
| Lcn10 |
T |
C |
2: 25,575,093 (GRCm39) |
F154L |
probably damaging |
Het |
| Med12l |
T |
G |
3: 59,156,076 (GRCm39) |
L1198R |
probably damaging |
Het |
| Mmp23 |
G |
A |
4: 155,735,768 (GRCm39) |
R268* |
probably null |
Het |
| Mrps30 |
T |
C |
13: 118,519,531 (GRCm39) |
D298G |
possibly damaging |
Het |
| Myh7 |
T |
A |
14: 55,229,427 (GRCm39) |
T124S |
probably benign |
Het |
| Odf4 |
T |
A |
11: 68,817,767 (GRCm39) |
E9D |
probably benign |
Het |
| Ptchd4 |
T |
A |
17: 42,627,999 (GRCm39) |
C153* |
probably null |
Het |
| Scp2 |
T |
A |
4: 107,964,887 (GRCm39) |
|
probably null |
Het |
| Slc16a10 |
A |
G |
10: 39,952,819 (GRCm39) |
V225A |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,397,529 (GRCm39) |
V381A |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,937,482 (GRCm39) |
K1189E |
possibly damaging |
Het |
| Ttc39a |
C |
A |
4: 109,280,170 (GRCm39) |
H151N |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,554,854 (GRCm39) |
T3544M |
possibly damaging |
Het |
| Vnn1 |
A |
G |
10: 23,776,744 (GRCm39) |
H365R |
probably benign |
Het |
|
| Other mutations in Slc66a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01911:Slc66a1
|
APN |
4 |
139,028,384 (GRCm39) |
missense |
probably benign |
0.01 |
|
palanquin
|
UTSW |
4 |
139,033,752 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0332:Slc66a1
|
UTSW |
4 |
139,027,610 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1558:Slc66a1
|
UTSW |
4 |
139,027,391 (GRCm39) |
intron |
probably benign |
|
|
R2157:Slc66a1
|
UTSW |
4 |
139,029,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2518:Slc66a1
|
UTSW |
4 |
139,029,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3079:Slc66a1
|
UTSW |
4 |
139,033,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3778:Slc66a1
|
UTSW |
4 |
139,026,293 (GRCm39) |
splice site |
probably null |
|
|
R4401:Slc66a1
|
UTSW |
4 |
139,033,854 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4783:Slc66a1
|
UTSW |
4 |
139,027,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4784:Slc66a1
|
UTSW |
4 |
139,027,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4785:Slc66a1
|
UTSW |
4 |
139,027,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4879:Slc66a1
|
UTSW |
4 |
139,029,095 (GRCm39) |
splice site |
probably null |
|
|
R5126:Slc66a1
|
UTSW |
4 |
139,029,843 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5540:Slc66a1
|
UTSW |
4 |
139,027,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5700:Slc66a1
|
UTSW |
4 |
139,027,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6141:Slc66a1
|
UTSW |
4 |
139,027,556 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6379:Slc66a1
|
UTSW |
4 |
139,027,296 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6905:Slc66a1
|
UTSW |
4 |
139,033,752 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7315:Slc66a1
|
UTSW |
4 |
139,029,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7499:Slc66a1
|
UTSW |
4 |
139,033,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8500:Slc66a1
|
UTSW |
4 |
139,027,440 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2012-12-17 |
Incidental Mutation