Incidental Mutation 'R5692:Slc35e2'
ID |
443726 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slc35e2
|
Ensembl Gene |
ENSMUSG00000042202 |
Gene Name |
solute carrier family 35, member E2 |
Synonyms |
A530082C11Rik |
MMRRC Submission |
043179-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5692 (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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700128F08Rik |
G |
A |
9: 8,221,991 (GRCm39) |
|
noncoding transcript |
Het |
Adcy10 |
A |
G |
1: 165,342,875 (GRCm39) |
N247S |
probably benign |
Het |
Ago3 |
T |
C |
4: 126,248,862 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
A |
G |
7: 44,797,223 (GRCm39) |
V168A |
probably damaging |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Arhgap26 |
T |
A |
18: 39,254,945 (GRCm39) |
V274E |
probably damaging |
Het |
Clec4d |
T |
C |
6: 123,245,104 (GRCm39) |
|
probably null |
Het |
Dennd4b |
T |
C |
3: 90,185,090 (GRCm39) |
Y1166H |
probably damaging |
Het |
Egln3 |
T |
C |
12: 54,227,447 (GRCm39) |
|
probably null |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Fhad1 |
T |
A |
4: 141,690,768 (GRCm39) |
M434L |
probably benign |
Het |
Gfm1 |
T |
G |
3: 67,342,955 (GRCm39) |
M163R |
probably damaging |
Het |
Isg15 |
A |
T |
4: 156,284,279 (GRCm39) |
L83Q |
probably damaging |
Het |
Ly9 |
GCCTTTGGGGGACAATTCC |
GCC |
1: 171,432,755 (GRCm39) |
|
probably null |
Het |
Med1 |
G |
T |
11: 98,047,206 (GRCm39) |
|
probably benign |
Het |
Mrc2 |
T |
A |
11: 105,227,468 (GRCm39) |
V567D |
probably damaging |
Het |
Nnmt |
G |
T |
9: 48,514,780 (GRCm39) |
T79K |
probably benign |
Het |
Opn1sw |
G |
A |
6: 29,379,840 (GRCm39) |
|
probably benign |
Het |
Optc |
G |
T |
1: 133,828,714 (GRCm39) |
|
probably benign |
Het |
Pcdh17 |
C |
T |
14: 84,685,980 (GRCm39) |
P816S |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,607,502 (GRCm39) |
S245P |
probably benign |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Sacs |
T |
C |
14: 61,445,288 (GRCm39) |
F2445L |
probably benign |
Het |
Sel1l |
T |
C |
12: 91,778,652 (GRCm39) |
N721S |
probably benign |
Het |
Slc7a11 |
C |
G |
3: 50,326,780 (GRCm39) |
V494L |
probably benign |
Het |
Sulf2 |
C |
A |
2: 165,923,426 (GRCm39) |
A598S |
probably benign |
Het |
Tph2 |
A |
T |
10: 115,020,732 (GRCm39) |
D21E |
probably damaging |
Het |
Trf |
T |
C |
9: 103,103,324 (GRCm39) |
Y110C |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,628,202 (GRCm39) |
E14653K |
possibly damaging |
Het |
Vmn2r18 |
A |
G |
5: 151,485,724 (GRCm39) |
I590T |
possibly damaging |
Het |
Zfp607b |
G |
T |
7: 27,402,889 (GRCm39) |
K448N |
probably benign |
Het |
Zfp689 |
T |
C |
7: 127,048,071 (GRCm39) |
|
probably benign |
Het |
Zfp709 |
C |
T |
8: 72,643,999 (GRCm39) |
P476L |
probably damaging |
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 |
|
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'- GGTGTCAAATGCATCTTACACAGG -3'
(R):5'- TCCGACTCAATGACAGTGGTC -3'
Sequencing Primer
(F):5'- GCTTCCTTACTTTGCTGGAGAC -3'
(R):5'- ACTCAATGACAGTGGTCTCTGTG -3'
|
Posted On |
2016-11-09 |