Incidental Mutation 'R9533:Slc66a2'
| ID |
719590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc66a2
|
| Ensembl Gene |
ENSMUSG00000034006 |
| Gene Name |
solute carrier family 66 member 2 |
| Synonyms |
4933425L21Rik, 2310009N05Rik, Pqlc1, 5730564E11Rik, C78974 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R9533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
80298458-80335940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80327034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 209
(V209A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121684
(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: V209A
|
| SMART Domains |
Protein: ENSMUSP00000121684
Gene: ENSMUSG00000034006
AA Change: V209A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
C |
T |
11: 110,102,582 (GRCm39) |
V881I |
probably benign |
Het |
| Acot1 |
C |
T |
12: 84,063,988 (GRCm39) |
S57F |
|
Het |
| Actr3 |
T |
C |
1: 125,339,048 (GRCm39) |
I97V |
probably benign |
Het |
| C4b |
A |
T |
17: 34,956,698 (GRCm39) |
C633* |
probably null |
Het |
| Cdh19 |
T |
A |
1: 110,817,589 (GRCm39) |
T718S |
probably damaging |
Het |
| Coasy |
T |
A |
11: 100,975,852 (GRCm39) |
S355T |
probably benign |
Het |
| Coch |
A |
G |
12: 51,650,132 (GRCm39) |
I374V |
possibly damaging |
Het |
| Dhrs7l |
C |
T |
12: 72,675,050 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,073,178 (GRCm39) |
M760K |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,957,566 (GRCm39) |
Y428H |
probably damaging |
Het |
| Fst |
G |
A |
13: 114,592,397 (GRCm39) |
R107* |
probably null |
Het |
| Gba1 |
A |
G |
3: 89,114,756 (GRCm39) |
T387A |
probably benign |
Het |
| Gid8 |
A |
T |
2: 180,358,713 (GRCm39) |
Q126L |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,383,929 (GRCm39) |
V1045A |
possibly damaging |
Het |
| Kif23 |
G |
A |
9: 61,832,924 (GRCm39) |
S535L |
probably benign |
Het |
| Krt79 |
G |
A |
15: 101,848,417 (GRCm39) |
A78V |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,862,871 (GRCm39) |
F2964S |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,519,808 (GRCm39) |
D125G |
probably benign |
Het |
| Lrrc15 |
C |
T |
16: 30,092,637 (GRCm39) |
G234D |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,108,297 (GRCm39) |
V1188A |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,473,729 (GRCm39) |
T37A |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,109,095 (GRCm39) |
I135M |
probably benign |
Het |
| Or2a51 |
A |
G |
6: 43,178,991 (GRCm39) |
R138G |
probably benign |
Het |
| Or6c69 |
T |
A |
10: 129,747,404 (GRCm39) |
I248F |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,789,725 (GRCm39) |
Y514C |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,093,986 (GRCm39) |
N165S |
probably damaging |
Het |
| Phf10 |
G |
C |
17: 15,175,366 (GRCm39) |
H157D |
probably damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,661,792 (GRCm39) |
R708H |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,698,692 (GRCm39) |
S408P |
unknown |
Het |
| Rab3a |
A |
T |
8: 71,209,804 (GRCm39) |
Y123F |
probably damaging |
Het |
| Rbak |
A |
T |
5: 143,160,172 (GRCm39) |
S294T |
probably damaging |
Het |
| Sarm1 |
T |
C |
11: 78,373,996 (GRCm39) |
D677G |
probably damaging |
Het |
| Scly |
A |
T |
1: 91,228,413 (GRCm39) |
|
probably benign |
Het |
| Slc26a6 |
T |
C |
9: 108,735,481 (GRCm39) |
V385A |
probably damaging |
Het |
| Srp72 |
T |
C |
5: 77,128,274 (GRCm39) |
V165A |
probably benign |
Het |
| Tars3 |
A |
C |
7: 65,333,808 (GRCm39) |
|
probably null |
Het |
| Tspan1 |
T |
A |
4: 116,020,211 (GRCm39) |
M233L |
probably benign |
Het |
| Zfp574 |
G |
A |
7: 24,780,379 (GRCm39) |
G467D |
probably damaging |
Het |
| Zfp85 |
A |
G |
13: 67,897,722 (GRCm39) |
S117P |
probably benign |
Het |
| Zfp932 |
C |
G |
5: 110,157,787 (GRCm39) |
P495R |
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 |
|
R4343:Slc66a2
|
UTSW |
18 |
80,327,004 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
X0065:Slc66a2
|
UTSW |
18 |
80,326,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGGCCTTTGACTCTTGTC -3'
(R):5'- TGCACGGGGTTTCTGAGAAG -3'
Sequencing Primer
(F):5'- AGAAACCTTCTGTGGAGGCC -3'
(R):5'- AGCTCTCAGTGTGGAGTCAAATG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation