Incidental Mutation 'R3079:Slc66a1'
| ID |
265323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc66a1
|
| Ensembl Gene |
ENSMUSG00000028744 |
| Gene Name |
solute carrier family 66 member 1 |
| Synonyms |
Pqlc2 |
| MMRRC Submission |
040569-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R3079 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
139021340-139038019 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 139033829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 30
(A30D)
|
| 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: A30D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059772
Gene: ENSMUSG00000028744
AA Change: A30D
| 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: A30D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000101427
Gene: ENSMUSG00000028744
AA Change: A30D
| 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: A30D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121362
Gene: ENSMUSG00000028744
AA Change: A30D
| 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: A30D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172747
AA Change: A30D
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134464
Gene: ENSMUSG00000028744
AA Change: A30D
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
T |
15: 102,248,879 (GRCm39) |
L168H |
probably damaging |
Het |
| Abca15 |
T |
C |
7: 119,984,392 (GRCm39) |
W1158R |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,781,146 (GRCm39) |
D59V |
probably damaging |
Het |
| Aqp11 |
A |
T |
7: 97,386,795 (GRCm39) |
C134S |
probably benign |
Het |
| Arhgap35 |
A |
G |
7: 16,296,501 (GRCm39) |
Y855H |
probably damaging |
Het |
| Ces1c |
A |
C |
8: 93,846,975 (GRCm39) |
L93R |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,063,545 (GRCm39) |
D462G |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,631,422 (GRCm39) |
R1494G |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,611,750 (GRCm39) |
S109P |
possibly damaging |
Het |
| Elp4 |
T |
C |
2: 105,639,790 (GRCm39) |
K130E |
possibly damaging |
Het |
| Gemin5 |
A |
T |
11: 58,036,345 (GRCm39) |
V666E |
probably damaging |
Het |
| Hba-x |
A |
G |
11: 32,227,616 (GRCm39) |
D62G |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,432,540 (GRCm39) |
Y474* |
probably null |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,237 (GRCm39) |
D81V |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Mbtps1 |
A |
G |
8: 120,257,944 (GRCm39) |
V431A |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 120,265,602 (GRCm39) |
D315G |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,227,539 (GRCm39) |
S591P |
probably damaging |
Het |
| Msh5 |
T |
C |
17: 35,265,208 (GRCm39) |
E48G |
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,155,505 (GRCm39) |
D916G |
probably damaging |
Het |
| Nebl |
A |
G |
2: 17,381,462 (GRCm39) |
V738A |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,108,794 (GRCm39) |
R236G |
probably benign |
Het |
| Obsl1 |
G |
T |
1: 75,467,467 (GRCm39) |
R1436S |
probably damaging |
Het |
| Or14j4 |
T |
C |
17: 37,921,169 (GRCm39) |
T158A |
probably benign |
Het |
| Or51a7 |
C |
T |
7: 102,622,254 (GRCm39) |
|
probably null |
Het |
| Padi2 |
T |
C |
4: 140,677,189 (GRCm39) |
V659A |
probably damaging |
Het |
| Pnpla6 |
T |
G |
8: 3,591,512 (GRCm39) |
S1169A |
probably benign |
Het |
| Pramel30 |
T |
G |
4: 144,058,098 (GRCm39) |
L235R |
probably damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,502,983 (GRCm39) |
D193G |
possibly damaging |
Het |
| Rce1 |
G |
T |
19: 4,674,750 (GRCm39) |
C138* |
probably null |
Het |
| Shoc1 |
G |
T |
4: 59,047,848 (GRCm39) |
T1257N |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,496,870 (GRCm39) |
T259A |
probably benign |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Slfn1 |
T |
C |
11: 83,011,986 (GRCm39) |
V34A |
probably benign |
Het |
| Syt4 |
A |
G |
18: 31,574,738 (GRCm39) |
V293A |
probably benign |
Het |
| Trh |
T |
C |
6: 92,219,551 (GRCm39) |
E255G |
possibly damaging |
Het |
| Ube4a |
G |
T |
9: 44,871,371 (GRCm39) |
N9K |
probably damaging |
Het |
| Uck1 |
A |
T |
2: 32,148,089 (GRCm39) |
|
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,631 (GRCm39) |
M194T |
possibly damaging |
Het |
| Vmn2r91 |
T |
G |
17: 18,355,973 (GRCm39) |
|
probably null |
Het |
| Wbp2 |
C |
T |
11: 115,970,534 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
G |
1: 63,346,636 (GRCm39) |
I1672V |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGGCCTGGGATCTAGACAG -3'
(R):5'- AAACCTTTGCCAGCCTCTG -3'
Sequencing Primer
(F):5'- CCTGGGATCTAGACAGGCCAATG -3'
(R):5'- GACCCCTTGGCTGTGTTCATAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation