Incidental Mutation 'R8368:Slc66a2'
ID |
646274 |
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 |
067738-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R8368 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
80298458-80335940 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80334873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 231
(S231P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070135]
[ENSMUST00000077962]
[ENSMUST00000091798]
[ENSMUST00000123750]
[ENSMUST00000129043]
[ENSMUST00000131780]
[ENSMUST00000140594]
|
AlphaFold |
Q80XM9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070135
AA Change: S213P
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000069986 Gene: ENSMUSG00000034006 AA Change: S213P
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: ENSMUST00000077962
|
SMART Domains |
Protein: ENSMUSP00000077112 Gene: ENSMUSG00000059852
Domain | Start | End | E-Value | Type |
BTB
|
31 |
139 |
9.55e-4 |
SMART |
transmembrane domain
|
187 |
209 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
233 |
417 |
7.1e-27 |
PFAM |
Pfam:Ion_trans_2
|
336 |
423 |
3.5e-15 |
PFAM |
low complexity region
|
445 |
458 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091798
AA Change: S231P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000089402 Gene: ENSMUSG00000034006 AA Change: S231P
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
AA Change: S213P
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000121890 Gene: ENSMUSG00000034006 AA Change: S213P
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
AA Change: S213P
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000118670 Gene: ENSMUSG00000034006 AA Change: S213P
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
AA Change: S231P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000117166 Gene: ENSMUSG00000034006 AA Change: S231P
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
AA Change: S231P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000119083 Gene: ENSMUSG00000034006 AA Change: S231P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap39 |
A |
T |
15: 76,619,455 (GRCm39) |
S710T |
probably damaging |
Het |
Asb10 |
A |
C |
5: 24,744,615 (GRCm39) |
I193S |
probably benign |
Het |
C2cd6 |
A |
G |
1: 59,133,820 (GRCm39) |
L67P |
probably benign |
Het |
Ccdc14 |
T |
C |
16: 34,543,742 (GRCm39) |
L748P |
probably benign |
Het |
Cers4 |
T |
G |
8: 4,565,698 (GRCm39) |
V48G |
probably benign |
Het |
Chrna10 |
T |
C |
7: 101,764,223 (GRCm39) |
T54A |
probably benign |
Het |
Dip2b |
T |
C |
15: 100,052,124 (GRCm39) |
S242P |
probably benign |
Het |
Fam151a |
A |
G |
4: 106,604,190 (GRCm39) |
T325A |
probably benign |
Het |
Gm21190 |
A |
T |
5: 15,729,848 (GRCm39) |
S257T |
possibly damaging |
Het |
Gm49368 |
T |
C |
7: 127,713,921 (GRCm39) |
S909P |
probably benign |
Het |
Gm5150 |
C |
A |
3: 16,044,902 (GRCm39) |
V108F |
probably damaging |
Het |
Gsdmc2 |
G |
A |
15: 63,696,902 (GRCm39) |
T423I |
probably damaging |
Het |
Hsf2 |
T |
A |
10: 57,388,241 (GRCm39) |
C501S |
probably damaging |
Het |
Igf1r |
A |
G |
7: 67,836,796 (GRCm39) |
N551D |
probably benign |
Het |
Kctd3 |
G |
A |
1: 188,704,404 (GRCm39) |
T789I |
probably benign |
Het |
Lad1 |
A |
G |
1: 135,759,264 (GRCm39) |
E474G |
probably damaging |
Het |
Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
Magi3 |
A |
T |
3: 104,002,379 (GRCm39) |
|
probably null |
Het |
Nrdc |
A |
G |
4: 108,870,895 (GRCm39) |
D174G |
probably benign |
Het |
Nrxn3 |
T |
A |
12: 90,298,815 (GRCm39) |
Y445* |
probably null |
Het |
Otol1 |
A |
G |
3: 69,935,199 (GRCm39) |
Y397C |
probably damaging |
Het |
Pkd2 |
G |
T |
5: 104,607,653 (GRCm39) |
E51* |
probably null |
Het |
Rad21l |
A |
G |
2: 151,495,390 (GRCm39) |
V431A |
probably benign |
Het |
Rad50 |
A |
G |
11: 53,574,155 (GRCm39) |
L694S |
possibly damaging |
Het |
Rasal1 |
A |
G |
5: 120,809,615 (GRCm39) |
S507G |
probably damaging |
Het |
Ros1 |
T |
A |
10: 51,940,833 (GRCm39) |
D2162V |
probably damaging |
Het |
Samd7 |
A |
T |
3: 30,819,574 (GRCm39) |
D441V |
probably damaging |
Het |
Senp1 |
T |
C |
15: 97,943,255 (GRCm39) |
S623G |
probably damaging |
Het |
Shld1 |
T |
C |
2: 132,592,433 (GRCm39) |
I160T |
probably benign |
Het |
Slc23a3 |
G |
T |
1: 75,106,281 (GRCm39) |
P313T |
probably damaging |
Het |
Stab1 |
T |
C |
14: 30,870,368 (GRCm39) |
D1320G |
possibly damaging |
Het |
Tdpoz7 |
A |
G |
3: 93,979,893 (GRCm39) |
F20S |
probably damaging |
Het |
Tinf2 |
T |
C |
14: 55,917,030 (GRCm39) |
T372A |
probably damaging |
Het |
Trim45 |
A |
G |
3: 100,830,672 (GRCm39) |
T149A |
possibly damaging |
Het |
Trim63 |
TGAGGAGGAGGAGGAGGAGGAG |
TGAGGAGGAGGAGGAGGAG |
4: 134,055,017 (GRCm39) |
|
probably benign |
Het |
Unc13c |
C |
T |
9: 73,838,070 (GRCm39) |
S927N |
probably benign |
Het |
Uqcrfs1 |
C |
A |
13: 30,724,799 (GRCm39) |
G247V |
probably damaging |
Het |
Zfp143 |
A |
T |
7: 109,682,455 (GRCm39) |
N342I |
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 |
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'- CGCTAATCCTTTGGGTCACAC -3'
(R):5'- GGCACTCAACTTAATCTCTGCCTAC -3'
Sequencing Primer
(F):5'- AATCCTTTGGGTCACACTACTGAC -3'
(R):5'- AGTCTCCCCAGTGCAGAAG -3'
|
Posted On |
2020-09-02 |