Incidental Mutation 'R6065:Slc35e2'
ID |
483998 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35e2
|
Ensembl Gene |
ENSMUSG00000042202 |
Gene Name |
solute carrier family 35, member E2 |
Synonyms |
A530082C11Rik |
MMRRC Submission |
044229-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6065 (G1)
|
Quality Score |
214.009 |
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: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff1 |
T |
C |
5: 103,990,118 (GRCm39) |
S871P |
probably damaging |
Het |
Ccdc150 |
T |
C |
1: 54,302,758 (GRCm39) |
I126T |
possibly damaging |
Het |
Ccdc87 |
A |
T |
19: 4,891,268 (GRCm39) |
M587L |
probably benign |
Het |
Cd300ld2 |
G |
A |
11: 114,903,428 (GRCm39) |
|
probably benign |
Het |
Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
Dchs1 |
T |
C |
7: 105,404,628 (GRCm39) |
D2638G |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,230,614 (GRCm39) |
I171F |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,746,164 (GRCm39) |
D3983G |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,036,223 (GRCm39) |
S396P |
possibly damaging |
Het |
Fbxw15 |
T |
A |
9: 109,397,246 (GRCm39) |
D18V |
probably damaging |
Het |
Fcnb |
A |
C |
2: 27,969,922 (GRCm39) |
C106G |
probably damaging |
Het |
Firrm |
A |
T |
1: 163,786,957 (GRCm39) |
L704Q |
probably benign |
Het |
Firrm |
A |
G |
1: 163,815,257 (GRCm39) |
M88T |
probably damaging |
Het |
Gm3453 |
T |
C |
14: 5,978,233 (GRCm38) |
T57A |
probably damaging |
Het |
Grin2a |
T |
C |
16: 9,579,771 (GRCm39) |
D164G |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,646,081 (GRCm39) |
V706I |
probably benign |
Het |
Kcnj12 |
C |
T |
11: 60,960,703 (GRCm39) |
L334F |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,602,985 (GRCm39) |
Y1057H |
possibly damaging |
Het |
Mycbpap |
T |
C |
11: 94,399,013 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
G |
5: 112,840,647 (GRCm39) |
L2382P |
probably benign |
Het |
Ngef |
T |
A |
1: 87,405,370 (GRCm39) |
N680I |
probably damaging |
Het |
Nop2 |
A |
G |
6: 125,121,528 (GRCm39) |
H770R |
probably benign |
Het |
Pcdhgc3 |
A |
G |
18: 37,940,729 (GRCm39) |
T377A |
possibly damaging |
Het |
Prl7b1 |
T |
C |
13: 27,788,529 (GRCm39) |
K109E |
probably benign |
Het |
Ptprk |
C |
T |
10: 28,351,166 (GRCm39) |
T553I |
probably damaging |
Het |
Rab3d |
T |
C |
9: 21,821,815 (GRCm39) |
T209A |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,804,709 (GRCm39) |
|
probably null |
Het |
Rspry1 |
T |
C |
8: 95,349,615 (GRCm39) |
M1T |
probably null |
Het |
Sec13 |
G |
T |
6: 113,707,793 (GRCm39) |
P176T |
probably benign |
Het |
Slc4a7 |
C |
A |
14: 14,739,836 (GRCm38) |
T236K |
probably benign |
Het |
Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,675,295 (GRCm39) |
N382S |
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,113,416 (GRCm39) |
M345T |
possibly damaging |
Het |
Ubr4 |
T |
G |
4: 139,148,549 (GRCm39) |
C1678G |
probably damaging |
Het |
Urb1 |
A |
G |
16: 90,600,220 (GRCm39) |
S188P |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,221,210 (GRCm39) |
S524G |
probably damaging |
Het |
Wdr19 |
A |
G |
5: 65,379,056 (GRCm39) |
N233S |
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 |
R5440:Slc35e2
|
UTSW |
4 |
155,694,483 (GRCm39) |
missense |
probably benign |
|
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 |
|
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'- TGGCCTCCACATATGTCTGC -3'
(R):5'- GACTCAATGACAGTGGTCTCTG -3'
|
Posted On |
2017-07-14 |