Incidental Mutation 'R5678:Slc66a2'
ID |
442914 |
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 |
043317-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R5678 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
80298458-80335940 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80300249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 40
(I40T)
|
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 damaging
Transcript: ENSMUST00000070135
AA Change: I40T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000069986 Gene: ENSMUSG00000034006 AA Change: I40T
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 damaging
Transcript: ENSMUST00000091798
AA Change: I40T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089402 Gene: ENSMUSG00000034006 AA Change: I40T
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 damaging
Transcript: ENSMUST00000123750
AA Change: I40T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121890 Gene: ENSMUSG00000034006 AA Change: I40T
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 damaging
Transcript: ENSMUST00000129043
AA Change: I40T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118670 Gene: ENSMUSG00000034006 AA Change: I40T
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 damaging
Transcript: ENSMUST00000131780
AA Change: I40T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117166 Gene: ENSMUSG00000034006 AA Change: I40T
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 |
noncoding transcript
Transcript: ENSMUST00000134545
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140594
AA Change: I40T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119083 Gene: ENSMUSG00000034006 AA Change: I40T
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 damaging
Transcript: ENSMUST00000144468
AA Change: I40T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000121684 Gene: ENSMUSG00000034006 AA Change: I40T
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 |
noncoding transcript
Transcript: ENSMUST00000151677
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000157056
AA Change: I40T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115819 Gene: ENSMUSG00000034006 AA Change: I40T
Domain | Start | End | E-Value | Type |
Pfam:PQ-loop
|
17 |
77 |
3.2e-14 |
PFAM |
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.8692 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
C |
11: 23,466,529 (GRCm39) |
T168A |
probably damaging |
Het |
3425401B19Rik |
T |
A |
14: 32,384,010 (GRCm39) |
R652W |
probably damaging |
Het |
A530016L24Rik |
T |
G |
12: 112,463,306 (GRCm39) |
C43W |
probably damaging |
Het |
Aatk |
T |
C |
11: 119,900,980 (GRCm39) |
T1082A |
probably benign |
Het |
Acsl1 |
T |
A |
8: 46,945,887 (GRCm39) |
F7I |
probably benign |
Het |
Adgb |
T |
G |
10: 10,307,070 (GRCm39) |
S299R |
possibly damaging |
Het |
Apob |
T |
C |
12: 8,041,494 (GRCm39) |
F738L |
possibly damaging |
Het |
Art3 |
T |
C |
5: 92,540,409 (GRCm39) |
Y51H |
probably damaging |
Het |
Atr |
C |
T |
9: 95,833,540 (GRCm39) |
Q2597* |
probably null |
Het |
Atrn |
T |
C |
2: 130,811,936 (GRCm39) |
V627A |
probably damaging |
Het |
Baz1a |
T |
C |
12: 54,947,317 (GRCm39) |
K1111E |
probably damaging |
Het |
Ccdc40 |
T |
C |
11: 119,122,398 (GRCm39) |
S67P |
possibly damaging |
Het |
Cd164 |
T |
C |
10: 41,395,948 (GRCm39) |
|
probably null |
Het |
Cep295 |
T |
C |
9: 15,234,154 (GRCm39) |
D2214G |
probably damaging |
Het |
Clcn1 |
A |
G |
6: 42,284,199 (GRCm39) |
Y589C |
probably damaging |
Het |
Col1a2 |
C |
T |
6: 4,536,239 (GRCm39) |
A998V |
unknown |
Het |
Csrnp2 |
T |
C |
15: 100,379,685 (GRCm39) |
*535W |
probably null |
Het |
Dhrs7 |
C |
T |
12: 72,704,106 (GRCm39) |
G130D |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,677,074 (GRCm39) |
T477A |
probably benign |
Het |
Dscam |
A |
G |
16: 96,592,100 (GRCm39) |
F725S |
probably benign |
Het |
Dstyk |
T |
C |
1: 132,381,029 (GRCm39) |
V508A |
probably benign |
Het |
Eif4g3 |
A |
G |
4: 137,879,053 (GRCm39) |
E595G |
probably damaging |
Het |
Epha6 |
A |
T |
16: 59,639,342 (GRCm39) |
V844E |
probably damaging |
Het |
Esrp2 |
G |
A |
8: 106,858,750 (GRCm39) |
A629V |
probably damaging |
Het |
Fndc3b |
A |
G |
3: 27,483,172 (GRCm39) |
S1009P |
probably benign |
Het |
Gm8257 |
A |
T |
14: 44,894,706 (GRCm39) |
I28N |
probably damaging |
Het |
Ighv5-9-1 |
T |
C |
12: 113,700,207 (GRCm39) |
E4G |
possibly damaging |
Het |
Ints3 |
A |
G |
3: 90,310,855 (GRCm39) |
V455A |
probably damaging |
Het |
Lamtor2 |
A |
G |
3: 88,458,101 (GRCm39) |
|
probably benign |
Het |
Npy1r |
T |
C |
8: 67,156,855 (GRCm39) |
C92R |
probably damaging |
Het |
Nup210l |
T |
C |
3: 90,098,266 (GRCm39) |
V1406A |
probably damaging |
Het |
Or10g7 |
T |
C |
9: 39,905,199 (GRCm39) |
V31A |
probably benign |
Het |
Or4a75 |
A |
G |
2: 89,447,625 (GRCm39) |
F304L |
probably benign |
Het |
Or4c108 |
A |
T |
2: 88,803,317 (GRCm39) |
L306* |
probably null |
Het |
Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
Qdpr |
T |
C |
5: 45,604,979 (GRCm39) |
E43G |
possibly damaging |
Het |
Rps6ka5 |
T |
C |
12: 100,691,135 (GRCm39) |
E2G |
unknown |
Het |
Setd2 |
A |
G |
9: 110,431,254 (GRCm39) |
T5A |
probably damaging |
Het |
Srpk2 |
TCA |
T |
5: 23,729,604 (GRCm39) |
|
probably null |
Het |
Sympk |
T |
C |
7: 18,783,397 (GRCm39) |
|
probably null |
Het |
Tasor |
CGCGGCGGCGGCGGCGG |
CGCGGCGGCGGCGGCGGCGGCGG |
14: 27,151,080 (GRCm39) |
|
probably benign |
Het |
Tchh |
A |
T |
3: 93,352,933 (GRCm39) |
Q791L |
unknown |
Het |
Tmed11 |
T |
C |
5: 108,934,031 (GRCm39) |
D55G |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,719,319 (GRCm39) |
D1989G |
unknown |
Het |
Utp20 |
A |
T |
10: 88,644,979 (GRCm39) |
H582Q |
probably benign |
Het |
Utrn |
A |
G |
10: 12,317,762 (GRCm39) |
I554T |
probably damaging |
Het |
Zfp1005 |
A |
T |
2: 150,110,425 (GRCm39) |
R372* |
probably null |
Het |
Zfp119a |
T |
C |
17: 56,175,336 (GRCm39) |
E53G |
probably benign |
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 |
|
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'- CATGTGGAGGTGACAGTCAG -3'
(R):5'- CGTTGAAGAATAAGAGCCTGC -3'
Sequencing Primer
(F):5'- TCAGCTTGCGGACTCAGAGAG -3'
(R):5'- CTTCCAGAGATCTTTCGGGGGAAG -3'
|
Posted On |
2016-11-09 |