Incidental Mutation 'R5440:Slc35e2'
| ID |
428575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35e2
|
| Ensembl Gene |
ENSMUSG00000042202 |
| Gene Name |
solute carrier family 35, member E2 |
| Synonyms |
A530082C11Rik |
| MMRRC Submission |
043005-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5440 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155685873-155707797 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155694483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 10
(P10L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043829]
[ENSMUST00000105608]
[ENSMUST00000115821]
[ENSMUST00000118607]
|
| AlphaFold |
Q8C811 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043829
AA Change: P10L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041449
Gene: ENSMUSG00000042202
AA Change: P10L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
Pfam:TPT
|
73 |
368 |
7.9e-93 |
PFAM |
|
Pfam:UAA
|
74 |
371 |
1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105608
AA Change: P10L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101233
Gene: ENSMUSG00000042202
AA Change: P10L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
Pfam:UAA
|
75 |
375 |
6.9e-10 |
PFAM |
|
Pfam:EamA
|
84 |
215 |
5.8e-8 |
PFAM |
|
Pfam:TPT
|
224 |
369 |
3.8e-34 |
PFAM |
|
Pfam:EamA
|
237 |
369 |
3.4e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115821
|
| SMART Domains |
Protein: ENSMUSP00000111488
Gene: ENSMUSG00000073682
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
17 |
52 |
2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118607
AA Change: P10L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113189
Gene: ENSMUSG00000042202
AA Change: P10L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
66 |
N/A |
INTRINSIC |
|
Pfam:UAA
|
75 |
375 |
6.9e-10 |
PFAM |
|
Pfam:EamA
|
84 |
215 |
5.8e-8 |
PFAM |
|
Pfam:TPT
|
224 |
369 |
3.8e-34 |
PFAM |
|
Pfam:EamA
|
237 |
369 |
3.4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137752
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151425
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc |
G |
T |
18: 34,354,213 (GRCm39) |
|
probably benign |
Het |
| Apol11b |
T |
A |
15: 77,519,793 (GRCm39) |
K96* |
probably null |
Het |
| Arhgap35 |
C |
T |
7: 16,296,849 (GRCm39) |
G739S |
probably damaging |
Het |
| Atp6v0a4 |
A |
C |
6: 38,069,752 (GRCm39) |
F47V |
probably damaging |
Het |
| Bcl9 |
G |
A |
3: 97,117,881 (GRCm39) |
P271L |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,587,446 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
T |
A |
9: 79,521,645 (GRCm39) |
I2771F |
probably benign |
Het |
| Col6a1 |
A |
G |
10: 76,559,288 (GRCm39) |
V116A |
probably damaging |
Het |
| Cpsf2 |
C |
G |
12: 101,963,138 (GRCm39) |
L401V |
probably benign |
Het |
| Cwf19l2 |
G |
A |
9: 3,475,549 (GRCm39) |
E829K |
probably damaging |
Het |
| D7Ertd443e |
G |
A |
7: 133,951,004 (GRCm39) |
T223I |
probably damaging |
Het |
| Dtx4 |
G |
A |
19: 12,469,681 (GRCm39) |
R149C |
probably damaging |
Het |
| Fam186b |
C |
T |
15: 99,171,734 (GRCm39) |
A838T |
possibly damaging |
Het |
| Fzd4 |
G |
T |
7: 89,057,326 (GRCm39) |
E458* |
probably null |
Het |
| Gm17669 |
C |
T |
18: 67,695,526 (GRCm39) |
P24S |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
| Gucy2e |
T |
C |
11: 69,114,472 (GRCm39) |
Y1019C |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,355,910 (GRCm39) |
N134I |
possibly damaging |
Het |
| Havcr1 |
A |
T |
11: 46,643,197 (GRCm39) |
Y39F |
probably damaging |
Het |
| Hint3 |
A |
T |
10: 30,494,347 (GRCm39) |
M1K |
probably null |
Het |
| Hspa4l |
A |
G |
3: 40,736,008 (GRCm39) |
K543R |
probably damaging |
Het |
| Ifna9 |
A |
G |
4: 88,510,048 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lipo2 |
A |
G |
19: 33,698,258 (GRCm39) |
I373T |
probably benign |
Het |
| Myo5c |
T |
A |
9: 75,165,407 (GRCm39) |
I405N |
possibly damaging |
Het |
| Or10a49 |
T |
C |
7: 108,467,833 (GRCm39) |
H176R |
probably damaging |
Het |
| P2rx1 |
A |
G |
11: 72,899,329 (GRCm39) |
M108V |
probably benign |
Het |
| Pcsk2 |
T |
A |
2: 143,388,463 (GRCm39) |
V18E |
probably benign |
Het |
| Pigr |
A |
T |
1: 130,777,359 (GRCm39) |
|
probably null |
Het |
| Pkp1 |
A |
T |
1: 135,810,230 (GRCm39) |
C447S |
probably benign |
Het |
| Prom1 |
T |
A |
5: 44,215,988 (GRCm39) |
I96F |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,068,076 (GRCm39) |
|
probably benign |
Het |
| Ropn1 |
C |
A |
16: 34,491,542 (GRCm39) |
D102E |
probably benign |
Het |
| Sphk1 |
T |
G |
11: 116,425,714 (GRCm39) |
V17G |
possibly damaging |
Het |
| Syngr1 |
A |
G |
15: 79,982,219 (GRCm39) |
N2S |
probably benign |
Het |
| Syt9 |
T |
G |
7: 107,101,330 (GRCm39) |
S359A |
possibly damaging |
Het |
| Terb1 |
T |
C |
8: 105,215,131 (GRCm39) |
I282V |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,739,600 (GRCm39) |
D3646E |
probably benign |
Het |
| Ube2d1 |
A |
G |
10: 71,091,682 (GRCm39) |
W141R |
probably damaging |
Het |
| Vmn2r41 |
T |
A |
7: 8,141,362 (GRCm39) |
I701F |
probably damaging |
Het |
| Zfp770 |
T |
C |
2: 114,026,596 (GRCm39) |
D491G |
probably benign |
Het |
|
| Other mutations in Slc35e2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01919:Slc35e2
|
APN |
4 |
155,697,187 (GRCm39) |
missense |
probably benign |
|
|
IGL02244:Slc35e2
|
APN |
4 |
155,703,019 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1774:Slc35e2
|
UTSW |
4 |
155,694,621 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1856:Slc35e2
|
UTSW |
4 |
155,696,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Slc35e2
|
UTSW |
4 |
155,702,106 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4601:Slc35e2
|
UTSW |
4 |
155,702,106 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4603:Slc35e2
|
UTSW |
4 |
155,702,106 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4610:Slc35e2
|
UTSW |
4 |
155,702,106 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4917:Slc35e2
|
UTSW |
4 |
155,700,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Slc35e2
|
UTSW |
4 |
155,700,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5468:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R5469:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R5470:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R5512:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R5513:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R5514:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R5689:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R5692:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R5711:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R5714:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R5799:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R5872:Slc35e2
|
UTSW |
4 |
155,697,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Slc35e2
|
UTSW |
4 |
155,696,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5947:Slc35e2
|
UTSW |
4 |
155,696,171 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6044:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R6063:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R6065:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R6066:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R6188:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R6243:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R6273:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
|
R6484:Slc35e2
|
UTSW |
4 |
155,697,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6867:Slc35e2
|
UTSW |
4 |
155,703,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7143:Slc35e2
|
UTSW |
4 |
155,703,051 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7384:Slc35e2
|
UTSW |
4 |
155,695,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8463:Slc35e2
|
UTSW |
4 |
155,694,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8737:Slc35e2
|
UTSW |
4 |
155,695,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8940:Slc35e2
|
UTSW |
4 |
155,694,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCCACATATGTCTGCAC -3'
(R):5'- CCGACTCAATGACAGTGGTC -3'
Sequencing Primer
(F):5'- CAGGTGTCAAATGCATCTTACACAGG -3'
(R):5'- ACTCAATGACAGTGGTCTCTGTG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation