Incidental Mutation 'R1430:Slc35e1'
| ID |
161483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35e1
|
| Ensembl Gene |
ENSMUSG00000019731 |
| Gene Name |
solute carrier family 35, member E1 |
| Synonyms |
|
| MMRRC Submission |
039486-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R1430 (G1)
|
| Quality Score |
116 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73234485-73246458 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 73246415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058534]
[ENSMUST00000152080]
|
| AlphaFold |
Q8CD26 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058534
|
| SMART Domains |
Protein: ENSMUSP00000058697
Gene: ENSMUSG00000045248
| Domain | Start | End | E-Value | Type |
|---|
|
TFS2N
|
12 |
86 |
6.67e-21 |
SMART |
|
low complexity region
|
93 |
108 |
N/A |
INTRINSIC |
|
Pfam:Med26_M
|
177 |
405 |
3e-80 |
PFAM |
|
Pfam:Med26_C
|
407 |
586 |
5.1e-91 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141352
|
| SMART Domains |
Protein: ENSMUSP00000122215
Gene: ENSMUSG00000019731
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EamA
|
5 |
58 |
1.5e-6 |
PFAM |
|
Pfam:UAA
|
6 |
214 |
4e-8 |
PFAM |
|
Pfam:TPT
|
67 |
211 |
1.7e-38 |
PFAM |
|
Pfam:EamA
|
76 |
211 |
1.4e-6 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152080
AA Change: T6A
|
| SMART Domains |
Protein: ENSMUSP00000115754
Gene: ENSMUSG00000019731
AA Change: T6A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPT
|
28 |
333 |
8.3e-95 |
PFAM |
|
Pfam:EamA
|
188 |
334 |
7.1e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212699
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.9%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,204,287 (GRCm39) |
|
probably benign |
Het |
| Aoc2 |
A |
G |
11: 101,217,321 (GRCm39) |
Y468C |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,306,056 (GRCm39) |
|
probably benign |
Het |
| Cfh |
A |
G |
1: 140,030,436 (GRCm39) |
|
probably benign |
Het |
| Cyp2j9 |
G |
T |
4: 96,472,201 (GRCm39) |
|
probably benign |
Het |
| Dapk1 |
T |
G |
13: 60,901,957 (GRCm39) |
F929V |
probably benign |
Het |
| Dhx9 |
A |
T |
1: 153,359,493 (GRCm39) |
M35K |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,346,003 (GRCm39) |
E2448K |
probably benign |
Het |
| Doc2b |
A |
T |
11: 75,670,981 (GRCm39) |
C217S |
possibly damaging |
Het |
| Dock11 |
A |
G |
X: 35,333,565 (GRCm39) |
I2010V |
probably benign |
Het |
| Dram1 |
T |
C |
10: 88,160,641 (GRCm39) |
T227A |
possibly damaging |
Het |
| Eppin |
G |
A |
2: 164,431,323 (GRCm39) |
T101M |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,082,105 (GRCm39) |
D533G |
probably damaging |
Het |
| Fmo1 |
C |
A |
1: 162,667,293 (GRCm39) |
R174L |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,828,407 (GRCm39) |
L6735I |
possibly damaging |
Het |
| Gab1 |
G |
T |
8: 81,515,241 (GRCm39) |
T359K |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,298,029 (GRCm39) |
D118G |
possibly damaging |
Het |
| Gramd1a |
A |
G |
7: 30,832,211 (GRCm39) |
S609P |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,089,150 (GRCm39) |
Y1607C |
possibly damaging |
Het |
| Lrrc24 |
G |
T |
15: 76,607,992 (GRCm39) |
|
probably null |
Het |
| Mak |
C |
A |
13: 41,223,760 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,063,768 (GRCm39) |
R2708Q |
possibly damaging |
Het |
| Mettl24 |
T |
C |
10: 40,613,791 (GRCm39) |
C177R |
probably damaging |
Het |
| Mgam |
G |
C |
6: 40,733,305 (GRCm39) |
E812D |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,111,445 (GRCm39) |
R170G |
possibly damaging |
Het |
| Msn |
G |
A |
X: 95,196,325 (GRCm39) |
V130I |
probably benign |
Het |
| Ncoa4 |
G |
A |
14: 31,898,679 (GRCm39) |
V500I |
probably benign |
Het |
| Or2aj5 |
A |
G |
16: 19,424,752 (GRCm39) |
L222P |
probably damaging |
Het |
| Or2y1b |
A |
G |
11: 49,208,928 (GRCm39) |
|
probably null |
Het |
| Or5an6 |
C |
T |
19: 12,371,801 (GRCm39) |
T58I |
probably benign |
Het |
| Or8k3b |
T |
C |
2: 86,520,866 (GRCm39) |
Y151C |
possibly damaging |
Het |
| Ppm1h |
T |
C |
10: 122,693,004 (GRCm39) |
S302P |
probably damaging |
Het |
| Prkce |
T |
A |
17: 86,866,565 (GRCm39) |
|
probably benign |
Het |
| Psenen |
T |
C |
7: 30,261,815 (GRCm39) |
I34V |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 157,011,826 (GRCm39) |
T710A |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc1a5 |
A |
G |
7: 16,516,328 (GRCm39) |
D168G |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Syce1 |
A |
T |
7: 140,359,351 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
G |
T |
16: 57,034,573 (GRCm39) |
D75E |
probably damaging |
Het |
| Tbk1 |
A |
G |
10: 121,395,839 (GRCm39) |
V418A |
probably benign |
Het |
| Tmem132e |
T |
C |
11: 82,329,122 (GRCm39) |
V467A |
probably damaging |
Het |
| Tmem241 |
T |
C |
18: 12,126,651 (GRCm39) |
D144G |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,817,997 (GRCm39) |
|
probably null |
Het |
| Ubxn4 |
T |
A |
1: 128,202,617 (GRCm39) |
F420I |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,409,151 (GRCm39) |
T2645A |
probably damaging |
Het |
| Utp14b |
A |
G |
1: 78,644,111 (GRCm39) |
K670E |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,227,580 (GRCm39) |
V2010M |
probably benign |
Het |
| Zfp879 |
A |
G |
11: 50,724,784 (GRCm39) |
F91L |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,329,591 (GRCm39) |
S532P |
probably benign |
Het |
|
| Other mutations in Slc35e1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01325:Slc35e1
|
APN |
8 |
73,237,602 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01399:Slc35e1
|
APN |
8 |
73,238,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02663:Slc35e1
|
APN |
8 |
73,242,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03349:Slc35e1
|
APN |
8 |
73,237,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
flattened
|
UTSW |
8 |
73,241,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
wizened
|
UTSW |
8 |
73,246,030 (GRCm39) |
missense |
|
|
|
R0009:Slc35e1
|
UTSW |
8 |
73,238,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Slc35e1
|
UTSW |
8 |
73,238,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R0105:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R0401:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R0510:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R0511:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R0529:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R0566:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R0968:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R0969:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1029:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1051:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1123:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1245:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1247:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1314:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1343:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1357:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1401:Slc35e1
|
UTSW |
8 |
73,246,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1715:Slc35e1
|
UTSW |
8 |
73,237,821 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3031:Slc35e1
|
UTSW |
8 |
73,238,735 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3769:Slc35e1
|
UTSW |
8 |
73,245,714 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4745:Slc35e1
|
UTSW |
8 |
73,246,166 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6884:Slc35e1
|
UTSW |
8 |
73,238,726 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7309:Slc35e1
|
UTSW |
8 |
73,246,358 (GRCm39) |
missense |
unknown |
|
|
R7848:Slc35e1
|
UTSW |
8 |
73,246,280 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7913:Slc35e1
|
UTSW |
8 |
73,238,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Slc35e1
|
UTSW |
8 |
73,246,030 (GRCm39) |
missense |
|
|
|
R8806:Slc35e1
|
UTSW |
8 |
73,241,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Slc35e1
|
UTSW |
8 |
73,241,988 (GRCm39) |
missense |
probably benign |
|
|
R8948:Slc35e1
|
UTSW |
8 |
73,246,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9108:Slc35e1
|
UTSW |
8 |
73,246,030 (GRCm39) |
missense |
|
|
|
R9111:Slc35e1
|
UTSW |
8 |
73,246,030 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCGCTCAAAATCACCTTGTTGACC -3'
(R):5'- AGGGGAAATTGACACCTACCGCAC -3'
Sequencing Primer
(F):5'- AAATCACCTTGTTGACCACGTTAC -3'
(R):5'- GCGTAGTCCAGAGGATTTACC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation