Incidental Mutation 'R5469:Slc35e2'
| ID |
433399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35e2
|
| Ensembl Gene |
ENSMUSG00000042202 |
| Gene Name |
solute carrier family 35, member E2 |
| Synonyms |
A530082C11Rik |
| MMRRC Submission |
043030-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5469 (G1)
|
| Quality Score |
188 |
|
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: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Allc |
A |
T |
12: 28,605,305 (GRCm39) |
N331K |
probably benign |
Het |
| Anapc1 |
G |
T |
2: 128,517,621 (GRCm39) |
S341* |
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,319,683 (GRCm39) |
E1339G |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,557,676 (GRCm39) |
I702N |
probably damaging |
Het |
| Casp2 |
C |
A |
6: 42,246,268 (GRCm39) |
H209N |
probably benign |
Het |
| Casr |
A |
G |
16: 36,330,392 (GRCm39) |
V314A |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,201,353 (GRCm39) |
R294* |
probably null |
Het |
| Cd180 |
T |
A |
13: 102,841,342 (GRCm39) |
H129Q |
probably benign |
Het |
| Chst10 |
A |
T |
1: 38,904,608 (GRCm39) |
Y362N |
probably damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,372,573 (GRCm39) |
D509E |
probably benign |
Het |
| Ctsh |
G |
T |
9: 89,942,564 (GRCm39) |
|
probably null |
Het |
| Dhx29 |
C |
T |
13: 113,081,073 (GRCm39) |
A369V |
possibly damaging |
Het |
| Enox1 |
A |
G |
14: 77,830,414 (GRCm39) |
T340A |
probably benign |
Het |
| Fam135b |
T |
A |
15: 71,317,892 (GRCm39) |
T1357S |
probably benign |
Het |
| Flt3 |
A |
T |
5: 147,291,893 (GRCm39) |
S544T |
possibly damaging |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Gsap |
A |
T |
5: 21,495,542 (GRCm39) |
Y831F |
possibly damaging |
Het |
| Hnrnpr |
C |
T |
4: 136,046,745 (GRCm39) |
T142M |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 72,131,417 (GRCm39) |
D94G |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,928,377 (GRCm39) |
E579D |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 26,917,185 (GRCm39) |
P2247S |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,449,948 (GRCm39) |
S2089F |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,565,846 (GRCm39) |
V2292M |
unknown |
Het |
| Mphosph10 |
A |
T |
7: 64,039,193 (GRCm39) |
|
probably null |
Het |
| Pappa |
C |
T |
4: 65,123,389 (GRCm39) |
T908M |
probably benign |
Het |
| Pdcd10 |
T |
A |
3: 75,428,364 (GRCm39) |
K150* |
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,160,935 (GRCm39) |
I2275N |
probably damaging |
Het |
| Pmvk |
T |
C |
3: 89,374,989 (GRCm39) |
|
probably null |
Het |
| Pold2 |
G |
A |
11: 5,823,048 (GRCm39) |
P376S |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,799,247 (GRCm39) |
Q759L |
probably damaging |
Het |
| Rad51ap1 |
C |
T |
6: 126,905,190 (GRCm39) |
S107N |
probably damaging |
Het |
| Rfk |
T |
A |
19: 17,372,566 (GRCm39) |
N29K |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,271,375 (GRCm39) |
M315V |
probably benign |
Het |
| Rrn3 |
A |
G |
16: 13,630,964 (GRCm39) |
E600G |
probably benign |
Het |
| Ryk |
A |
G |
9: 102,784,153 (GRCm39) |
Y593C |
possibly damaging |
Het |
| Slc30a3 |
T |
A |
5: 31,246,004 (GRCm39) |
D193V |
probably damaging |
Het |
| Srbd1 |
C |
A |
17: 86,427,370 (GRCm39) |
C421F |
possibly damaging |
Het |
| Sstr5 |
A |
C |
17: 25,711,043 (GRCm39) |
V62G |
probably damaging |
Het |
| Tfip11 |
G |
A |
5: 112,482,191 (GRCm39) |
W483* |
probably null |
Het |
| Tlk1 |
T |
C |
2: 70,552,012 (GRCm39) |
H553R |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,932,162 (GRCm39) |
|
probably null |
Het |
| Trav12-1 |
A |
G |
14: 53,775,930 (GRCm39) |
T27A |
probably damaging |
Het |
| Usp9y |
G |
A |
Y: 1,364,714 (GRCm39) |
T1033I |
probably benign |
Het |
| V1ra8 |
C |
T |
6: 90,180,186 (GRCm39) |
H130Y |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,451,271 (GRCm39) |
M386L |
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 |
|
|
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'- CGACTCAATGACAGTGGTCTC -3'
Sequencing Primer
(F):5'- CAGGTGTCAAATGCATCTTACACAGG -3'
(R):5'- ACTCAATGACAGTGGTCTCTGTGATG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation