Incidental Mutation 'R1252:Slc66a2'
| ID |
151824 |
| 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 |
039319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
80298458-80335940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80334813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 211
(T211A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119083
(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: T193A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000069986
Gene: ENSMUSG00000034006
AA Change: T193A
| 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 |
possibly damaging
Transcript: ENSMUST00000091798
AA Change: T211A
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000089402
Gene: ENSMUSG00000034006
AA Change: T211A
| 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: T193A
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121890
Gene: ENSMUSG00000034006
AA Change: T193A
| 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: T193A
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118670
Gene: ENSMUSG00000034006
AA Change: T193A
| 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 |
possibly damaging
Transcript: ENSMUST00000131780
AA Change: T211A
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117166
Gene: ENSMUSG00000034006
AA Change: T211A
| 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 |
possibly damaging
Transcript: ENSMUST00000140594
AA Change: T211A
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119083
Gene: ENSMUSG00000034006
AA Change: T211A
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acsm2 |
C |
T |
7: 119,172,468 (GRCm39) |
H104Y |
probably benign |
Het |
| Adgrb3 |
G |
A |
1: 25,167,909 (GRCm39) |
T1009M |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,701,877 (GRCm39) |
K755E |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,367,140 (GRCm39) |
D2491E |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,964,077 (GRCm39) |
S1706P |
probably benign |
Het |
| Capn13 |
C |
T |
17: 73,674,222 (GRCm39) |
G77D |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,862,444 (GRCm38) |
D370G |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,741,962 (GRCm39) |
K133E |
possibly damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,614,585 (GRCm39) |
M314T |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,945,985 (GRCm39) |
D542G |
probably damaging |
Het |
| Dpys |
A |
T |
15: 39,687,636 (GRCm39) |
N387K |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,720,353 (GRCm39) |
D749E |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,126,485 (GRCm39) |
F298L |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,239,269 (GRCm39) |
V304A |
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,279,912 (GRCm39) |
C1363S |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,711 (GRCm39) |
Y295H |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,138,019 (GRCm39) |
V396A |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,345,311 (GRCm39) |
D105G |
probably benign |
Het |
| Lrrc45 |
C |
A |
11: 120,606,297 (GRCm39) |
T135N |
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,212,918 (GRCm39) |
A548T |
probably benign |
Het |
| Nectin2 |
T |
G |
7: 19,451,523 (GRCm39) |
I504L |
probably benign |
Het |
| Nmbr |
T |
C |
10: 14,636,187 (GRCm39) |
I52T |
probably benign |
Het |
| Nop14 |
A |
T |
5: 34,807,899 (GRCm39) |
N354K |
probably benign |
Het |
| Olfm1 |
A |
G |
2: 28,119,447 (GRCm39) |
I361V |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Ovol1 |
T |
C |
19: 5,603,629 (GRCm39) |
T91A |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,760,808 (GRCm39) |
V3E |
possibly damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,420 (GRCm39) |
N4S |
probably benign |
Het |
| Slc23a2 |
A |
T |
2: 131,904,117 (GRCm39) |
|
probably null |
Het |
| Speg |
A |
T |
1: 75,403,739 (GRCm39) |
D2640V |
probably damaging |
Het |
| Trip12 |
G |
A |
1: 84,754,071 (GRCm39) |
Q111* |
probably null |
Het |
| Trub2 |
A |
G |
2: 29,672,170 (GRCm39) |
F141S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,693,729 (GRCm39) |
|
probably null |
Het |
| Zfp935 |
A |
G |
13: 62,602,355 (GRCm39) |
F282L |
probably damaging |
Het |
| Zfp946 |
G |
T |
17: 22,672,560 (GRCm39) |
|
probably null |
Het |
| Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
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 |
|
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 |
|
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'- ACCTACTAGGCCAGGCTGAAGAAC -3'
(R):5'- GGACGCGGCACTCAACTTAATCTC -3'
Sequencing Primer
(F):5'- GGCTGTAATCAGACCATTCTCG -3'
(R):5'- CTAGATTCCTCAGAGAGCCTTGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation