Incidental Mutation 'IGL01911:Slc66a1'
| ID |
179812 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc66a1
|
| Ensembl Gene |
ENSMUSG00000028744 |
| Gene Name |
solute carrier family 66 member 1 |
| Synonyms |
Pqlc2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
IGL01911
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
139021340-139038019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139028384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 186
(V186A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053862]
[ENSMUST00000105801]
[ENSMUST00000139840]
[ENSMUST00000141007]
[ENSMUST00000172747]
|
| AlphaFold |
Q8C4N4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053862
AA Change: V186A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059772
Gene: ENSMUSG00000028744
AA Change: V186A
| 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: ENSMUST00000105801
AA Change: V186A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000101427
Gene: ENSMUSG00000028744
AA Change: V186A
| 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 benign
Transcript: ENSMUST00000139840
AA Change: V186A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121362
Gene: ENSMUSG00000028744
AA Change: V186A
| 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: ENSMUST00000141007
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172747
AA Change: V186A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134464
Gene: ENSMUSG00000028744
AA Change: V186A
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
T |
C |
1: 58,191,719 (GRCm39) |
F424L |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,671,077 (GRCm39) |
T301A |
probably damaging |
Het |
| Atp9a |
C |
A |
2: 168,495,481 (GRCm39) |
R575L |
probably damaging |
Het |
| Brca2 |
G |
A |
5: 150,491,078 (GRCm39) |
D3088N |
probably damaging |
Het |
| Brd3 |
G |
A |
2: 27,349,812 (GRCm39) |
T247I |
probably damaging |
Het |
| Btbd8 |
A |
G |
5: 107,656,446 (GRCm39) |
H903R |
probably damaging |
Het |
| Cacna1i |
A |
G |
15: 80,275,933 (GRCm39) |
N1908S |
probably benign |
Het |
| Ccdc40 |
A |
T |
11: 119,122,797 (GRCm39) |
|
probably null |
Het |
| Cdyl |
T |
C |
13: 36,047,226 (GRCm39) |
V389A |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 8,014,963 (GRCm39) |
F814S |
probably damaging |
Het |
| Cstf3 |
T |
C |
2: 104,476,976 (GRCm39) |
F149S |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,804,784 (GRCm39) |
Y122H |
probably damaging |
Het |
| Dram1 |
T |
C |
10: 88,161,203 (GRCm39) |
D222G |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,512,802 (GRCm39) |
R96H |
probably damaging |
Het |
| Gm11563 |
T |
A |
11: 99,549,527 (GRCm39) |
R76* |
probably null |
Het |
| Gm17093 |
A |
C |
14: 44,758,277 (GRCm39) |
|
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpi1 |
A |
T |
7: 33,920,347 (GRCm39) |
V136D |
probably damaging |
Het |
| Hfm1 |
G |
A |
5: 107,059,410 (GRCm39) |
T204M |
possibly damaging |
Het |
| Itgae |
T |
C |
11: 73,006,963 (GRCm39) |
I403T |
probably damaging |
Het |
| Krt75 |
A |
T |
15: 101,476,537 (GRCm39) |
D409E |
probably damaging |
Het |
| Limk2 |
T |
G |
11: 3,305,340 (GRCm39) |
T76P |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,015,030 (GRCm39) |
M608L |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,899,421 (GRCm39) |
E979* |
probably null |
Het |
| Or52ab7 |
T |
G |
7: 102,978,480 (GRCm39) |
F262L |
probably benign |
Het |
| P2rx7 |
C |
T |
5: 122,796,831 (GRCm39) |
A166V |
probably damaging |
Het |
| Pomgnt2 |
T |
C |
9: 121,811,854 (GRCm39) |
E309G |
probably benign |
Het |
| Sbno2 |
A |
T |
10: 79,905,458 (GRCm39) |
Y199* |
probably null |
Het |
| Setd2 |
C |
A |
9: 110,446,499 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
T |
A |
10: 130,222,277 (GRCm39) |
I648F |
probably damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,980 (GRCm39) |
R577W |
probably benign |
Het |
| Znhit6 |
A |
G |
3: 145,283,853 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc66a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
palanquin
|
UTSW |
4 |
139,033,752 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0030:Slc66a1
|
UTSW |
4 |
139,033,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation