Incidental Mutation 'R4343:Slc66a2'
| ID |
324244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc66a2
|
| Ensembl Gene |
ENSMUSG00000034006 |
| Gene Name |
solute carrier family 66 member 2 |
| Synonyms |
4933425L21Rik, 2310009N05Rik, Pqlc1, 5730564E11Rik, C78974 |
| MMRRC Submission |
041665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4343 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
80298458-80335940 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 80327004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070135]
[ENSMUST00000091798]
[ENSMUST00000123750]
[ENSMUST00000129043]
[ENSMUST00000131780]
[ENSMUST00000140594]
[ENSMUST00000144468]
[ENSMUST00000157056]
|
| AlphaFold |
Q80XM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070135
|
| SMART Domains |
Protein: ENSMUSP00000069986
Gene: ENSMUSG00000034006
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
31 |
62 |
6.86e-1 |
SMART |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CTNS
|
166 |
197 |
7.56e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091798
|
| SMART Domains |
Protein: ENSMUSP00000089402
Gene: ENSMUSG00000034006
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
31 |
62 |
6.86e-1 |
SMART |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CTNS
|
184 |
215 |
7.56e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123750
|
| SMART Domains |
Protein: ENSMUSP00000121890
Gene: ENSMUSG00000034006
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
31 |
62 |
6.86e-1 |
SMART |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CTNS
|
166 |
197 |
7.56e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129043
|
| SMART Domains |
Protein: ENSMUSP00000118670
Gene: ENSMUSG00000034006
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
31 |
62 |
6.86e-1 |
SMART |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CTNS
|
166 |
197 |
7.56e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131780
|
| SMART Domains |
Protein: ENSMUSP00000117166
Gene: ENSMUSG00000034006
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
31 |
62 |
6.86e-1 |
SMART |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CTNS
|
184 |
215 |
7.56e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140594
|
| SMART Domains |
Protein: ENSMUSP00000119083
Gene: ENSMUSG00000034006
| Domain | Start | End | E-Value | Type |
|---|
|
CTNS
|
31 |
62 |
6.86e-1 |
SMART |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
CTNS
|
184 |
215 |
7.56e-9 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144468
AA Change: D199G
|
| SMART Domains |
Protein: ENSMUSP00000121684
Gene: ENSMUSG00000034006
AA Change: D199G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PQ-loop
|
17 |
77 |
2e-14 |
PFAM |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
Pfam:PQ-loop
|
152 |
187 |
2.2e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000157056
|
| SMART Domains |
Protein: ENSMUSP00000115819
Gene: ENSMUSG00000034006
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PQ-loop
|
17 |
77 |
3.2e-14 |
PFAM |
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd38 |
A |
C |
5: 44,026,431 (GRCm39) |
I72L |
probably benign |
Het |
| Diras1 |
T |
A |
10: 80,858,018 (GRCm39) |
K78* |
probably null |
Het |
| Gm5878 |
G |
A |
6: 85,102,633 (GRCm39) |
R31* |
probably null |
Het |
| Gm8674 |
T |
A |
13: 50,053,742 (GRCm39) |
|
noncoding transcript |
Het |
| Gnal |
T |
C |
18: 67,268,659 (GRCm39) |
S182P |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,693,140 (GRCm39) |
T932A |
probably benign |
Het |
| Igf2r |
C |
T |
17: 12,928,398 (GRCm39) |
E982K |
possibly damaging |
Het |
| Lepr |
G |
A |
4: 101,622,349 (GRCm39) |
|
probably null |
Het |
| Mical3 |
C |
A |
6: 120,911,799 (GRCm39) |
E1083* |
probably null |
Het |
| Mki67 |
A |
G |
7: 135,296,847 (GRCm39) |
V2729A |
probably benign |
Het |
| Mmp20 |
GA |
GAA |
9: 7,628,346 (GRCm39) |
|
probably null |
Het |
| Myo7b |
A |
G |
18: 32,116,680 (GRCm39) |
F976L |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,559,443 (GRCm39) |
F229S |
probably damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,167,773 (GRCm39) |
T1006I |
probably benign |
Het |
| Or5g9 |
T |
A |
2: 85,552,592 (GRCm39) |
V281E |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,501,780 (GRCm39) |
E656G |
probably damaging |
Het |
| Prep |
C |
A |
10: 44,996,866 (GRCm39) |
S381R |
probably damaging |
Het |
| Rab31 |
C |
T |
17: 65,961,414 (GRCm39) |
R192H |
probably benign |
Het |
| Rbm5 |
T |
C |
9: 107,629,395 (GRCm39) |
D319G |
probably damaging |
Het |
| Rexo2 |
T |
C |
9: 48,380,148 (GRCm39) |
E228G |
possibly damaging |
Het |
| Rrn3 |
A |
G |
16: 13,601,986 (GRCm39) |
D80G |
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,533,671 (GRCm39) |
V224A |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 178,022,740 (GRCm39) |
T464A |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,698,285 (GRCm39) |
L79H |
probably damaging |
Het |
| Trim30a |
T |
C |
7: 104,084,799 (GRCm39) |
Q137R |
probably benign |
Het |
| Tyrp1 |
A |
G |
4: 80,768,078 (GRCm39) |
D92G |
possibly damaging |
Het |
| Ugt1a6a |
T |
C |
1: 88,066,248 (GRCm39) |
L18P |
probably damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,582 (GRCm39) |
V195E |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,159,019 (GRCm39) |
M598K |
probably damaging |
Het |
|
| Other mutations in Slc66a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0255:Slc66a2
|
UTSW |
18 |
80,306,733 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1252:Slc66a2
|
UTSW |
18 |
80,334,813 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1381:Slc66a2
|
UTSW |
18 |
80,326,529 (GRCm39) |
missense |
probably benign |
|
|
R2061:Slc66a2
|
UTSW |
18 |
80,334,930 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5678:Slc66a2
|
UTSW |
18 |
80,300,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5701:Slc66a2
|
UTSW |
18 |
80,315,693 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5805:Slc66a2
|
UTSW |
18 |
80,306,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8368:Slc66a2
|
UTSW |
18 |
80,334,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9109:Slc66a2
|
UTSW |
18 |
80,300,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9298:Slc66a2
|
UTSW |
18 |
80,300,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9533:Slc66a2
|
UTSW |
18 |
80,327,034 (GRCm39) |
missense |
unknown |
|
|
X0065:Slc66a2
|
UTSW |
18 |
80,326,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGGGCCTTTGACTCTTGTC -3'
(R):5'- GGAGTCAAATGGCTTCCTTAAGG -3'
Sequencing Primer
(F):5'- GAGGGAGGCAGAAACCTTC -3'
(R):5'- TTCCTTAAGGATGGCGCCAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation