Incidental Mutation 'R1123:Slc35g2'
| ID |
95865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35g2
|
| Ensembl Gene |
ENSMUSG00000070287 |
| Gene Name |
solute carrier family 35, member G2 |
| Synonyms |
LOC245020, Tmem22 |
| MMRRC Submission |
039196-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R1123 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
100434241-100453143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100435047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 208
(I208N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093792]
|
| AlphaFold |
D3YVE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093792
AA Change: I208N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091308
Gene: ENSMUSG00000070287
AA Change: I208N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EamA
|
102 |
238 |
3.8e-12 |
PFAM |
|
Pfam:EamA
|
255 |
390 |
5e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189478
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,154,906 (GRCm39) |
M987K |
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,842,929 (GRCm39) |
D516G |
probably benign |
Het |
| Arhgap12 |
A |
C |
18: 6,031,822 (GRCm39) |
V573G |
probably damaging |
Het |
| Ccdc122 |
T |
C |
14: 77,305,351 (GRCm39) |
S2P |
probably damaging |
Het |
| Cel |
T |
C |
2: 28,446,752 (GRCm39) |
Y473C |
probably damaging |
Het |
| Cfap157 |
C |
T |
2: 32,667,935 (GRCm39) |
V469M |
possibly damaging |
Het |
| Cyp2c40 |
C |
G |
19: 39,801,121 (GRCm39) |
V45L |
probably benign |
Het |
| Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,821,762 (GRCm39) |
T706A |
probably benign |
Het |
| Esyt1 |
A |
T |
10: 128,352,427 (GRCm39) |
V728E |
probably benign |
Het |
| Etnk2 |
A |
G |
1: 133,301,010 (GRCm39) |
D259G |
probably benign |
Het |
| Evi5 |
T |
G |
5: 107,968,444 (GRCm39) |
I184L |
probably benign |
Het |
| Fem1a |
G |
C |
17: 56,564,791 (GRCm39) |
D295H |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,424,799 (GRCm39) |
F83S |
probably damaging |
Het |
| Hephl1 |
T |
C |
9: 14,991,436 (GRCm39) |
T601A |
probably benign |
Het |
| Isoc1 |
T |
C |
18: 58,804,695 (GRCm39) |
V201A |
probably benign |
Het |
| Kcnt2 |
A |
T |
1: 140,501,346 (GRCm39) |
D830V |
probably damaging |
Het |
| Lrfn1 |
G |
T |
7: 28,166,544 (GRCm39) |
C646F |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,299,428 (GRCm39) |
Y1255H |
probably benign |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,001,212 (GRCm39) |
S115P |
possibly damaging |
Het |
| Or5k16 |
A |
T |
16: 58,736,697 (GRCm39) |
Y102* |
probably null |
Het |
| Or9m1 |
A |
C |
2: 87,733,248 (GRCm39) |
I257M |
probably damaging |
Het |
| Pik3r4 |
G |
A |
9: 105,540,328 (GRCm39) |
A739T |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,386,111 (GRCm39) |
V920A |
probably damaging |
Het |
| Slc16a7 |
A |
C |
10: 125,067,016 (GRCm39) |
S208A |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Suclg1 |
A |
G |
6: 73,233,210 (GRCm39) |
I51V |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,666,336 (GRCm39) |
L286P |
probably damaging |
Het |
|
| Other mutations in Slc35g2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00953:Slc35g2
|
APN |
9 |
100,434,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03264:Slc35g2
|
APN |
9 |
100,434,699 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0127:Slc35g2
|
UTSW |
9 |
100,435,170 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0626:Slc35g2
|
UTSW |
9 |
100,435,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2012:Slc35g2
|
UTSW |
9 |
100,435,120 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2057:Slc35g2
|
UTSW |
9 |
100,435,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3922:Slc35g2
|
UTSW |
9 |
100,434,780 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3924:Slc35g2
|
UTSW |
9 |
100,434,780 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4561:Slc35g2
|
UTSW |
9 |
100,435,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Slc35g2
|
UTSW |
9 |
100,434,555 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4732:Slc35g2
|
UTSW |
9 |
100,434,555 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4733:Slc35g2
|
UTSW |
9 |
100,434,555 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4760:Slc35g2
|
UTSW |
9 |
100,435,549 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8310:Slc35g2
|
UTSW |
9 |
100,434,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8420:Slc35g2
|
UTSW |
9 |
100,435,224 (GRCm39) |
missense |
probably benign |
|
|
X0020:Slc35g2
|
UTSW |
9 |
100,435,069 (GRCm39) |
missense |
probably benign |
0.30 |
|
Z1176:Slc35g2
|
UTSW |
9 |
100,434,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTATACCCGAAGGCTTCCTTCCAG -3'
(R):5'- CTCATCACGAGGCTCATTTCCGAC -3'
Sequencing Primer
(F):5'- CCTTCCAGGCGTTTAACAGAG -3'
(R):5'- AGAACTGATTTTTATCCGGTCTGTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation