Incidental Mutation 'R3948:Slc35e4'
| ID |
307793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc35e4
|
| Ensembl Gene |
ENSMUSG00000048807 |
| Gene Name |
solute carrier family 35, member E4 |
| Synonyms |
A330108F03Rik |
| MMRRC Submission |
040928-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R3948 (G1)
|
| Quality Score |
206 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
3857022-3864664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3862970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 73
(V73E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020710]
[ENSMUST00000051207]
[ENSMUST00000109988]
[ENSMUST00000109989]
[ENSMUST00000109990]
[ENSMUST00000109991]
[ENSMUST00000109992]
[ENSMUST00000109995]
[ENSMUST00000109993]
|
| AlphaFold |
Q8K3D6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020710
|
| SMART Domains |
Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cobalamin_bind
|
1 |
333 |
3.1e-138 |
PFAM |
|
Pfam:SLBB
|
332 |
387 |
4.3e-7 |
PFAM |
|
Pfam:DUF4430
|
355 |
426 |
7.9e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051207
AA Change: V73E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000050978
Gene: ENSMUSG00000048807
AA Change: V73E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EamA
|
50 |
179 |
1.9e-9 |
PFAM |
|
Pfam:UAA
|
68 |
332 |
2.1e-15 |
PFAM |
|
Pfam:TPT
|
188 |
327 |
2.5e-19 |
PFAM |
|
Pfam:EamA
|
200 |
326 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109988
|
| SMART Domains |
Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cobalamin_bind
|
1 |
333 |
3.1e-138 |
PFAM |
|
Pfam:SLBB
|
332 |
387 |
4.3e-7 |
PFAM |
|
Pfam:DUF4430
|
355 |
426 |
7.9e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109989
|
| SMART Domains |
Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cobalamin_bind
|
1 |
333 |
3.1e-138 |
PFAM |
|
Pfam:SLBB
|
332 |
387 |
4.3e-7 |
PFAM |
|
Pfam:DUF4430
|
355 |
426 |
7.9e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109990
|
| SMART Domains |
Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cobalamin_bind
|
1 |
333 |
3.1e-138 |
PFAM |
|
Pfam:SLBB
|
332 |
387 |
4.3e-7 |
PFAM |
|
Pfam:DUF4430
|
355 |
426 |
7.9e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109991
|
| SMART Domains |
Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cobalamin_bind
|
3 |
331 |
1.2e-118 |
PFAM |
|
Pfam:SLBB
|
332 |
387 |
4.3e-7 |
PFAM |
|
Pfam:DUF4430
|
355 |
429 |
9.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109992
|
| SMART Domains |
Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cobalamin_bind
|
1 |
333 |
3.1e-138 |
PFAM |
|
Pfam:SLBB
|
332 |
387 |
4.3e-7 |
PFAM |
|
Pfam:DUF4430
|
355 |
426 |
7.9e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109995
AA Change: V73E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105622
Gene: ENSMUSG00000048807
AA Change: V73E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EamA
|
47 |
179 |
9.7e-7 |
PFAM |
|
Pfam:TPT
|
47 |
327 |
6.1e-21 |
PFAM |
|
Pfam:UAA
|
56 |
330 |
1.3e-7 |
PFAM |
|
Pfam:EamA
|
187 |
327 |
2.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109993
|
| SMART Domains |
Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cobalamin_bind
|
1 |
333 |
3.1e-138 |
PFAM |
|
Pfam:SLBB
|
332 |
387 |
4.3e-7 |
PFAM |
|
Pfam:DUF4430
|
355 |
426 |
7.9e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.4388 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,447,477 (GRCm39) |
L368P |
possibly damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
| Ankrd50 |
A |
G |
3: 38,536,990 (GRCm39) |
L121S |
possibly damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
| Avil |
A |
G |
10: 126,850,074 (GRCm39) |
S642G |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| Dhx15 |
T |
C |
5: 52,318,922 (GRCm39) |
|
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,662,615 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,328,264 (GRCm39) |
Y73C |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,325,769 (GRCm39) |
I94T |
possibly damaging |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
| Kcnj2 |
A |
G |
11: 110,963,481 (GRCm39) |
D291G |
possibly damaging |
Het |
| Krtap13 |
A |
G |
16: 88,547,957 (GRCm39) |
L177P |
possibly damaging |
Het |
| Mios |
A |
G |
6: 8,215,496 (GRCm39) |
T231A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
| Or4c122 |
A |
G |
2: 89,079,336 (GRCm39) |
F234S |
possibly damaging |
Het |
| Pramel30 |
A |
C |
4: 144,057,876 (GRCm39) |
Q161P |
probably benign |
Het |
| Ralgapa1 |
C |
A |
12: 55,745,552 (GRCm39) |
V1268F |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,414 (GRCm39) |
M551K |
possibly damaging |
Het |
| Serpinb9c |
A |
C |
13: 33,334,077 (GRCm39) |
C322G |
probably benign |
Het |
| Slc28a3 |
C |
T |
13: 58,710,824 (GRCm39) |
|
probably null |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Trim5 |
G |
A |
7: 103,915,727 (GRCm39) |
Q273* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,867,910 (GRCm39) |
T1974M |
probably damaging |
Het |
| Wdr25 |
T |
A |
12: 108,993,208 (GRCm39) |
C475S |
probably benign |
Het |
| Zfp202 |
C |
A |
9: 40,119,721 (GRCm39) |
H175N |
probably benign |
Het |
| Zfp248 |
TTAAATTCAT |
TT |
6: 118,407,155 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Slc35e4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02350:Slc35e4
|
APN |
11 |
3,862,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02357:Slc35e4
|
APN |
11 |
3,862,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02631:Slc35e4
|
APN |
11 |
3,857,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2213:Slc35e4
|
UTSW |
11 |
3,863,159 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2862:Slc35e4
|
UTSW |
11 |
3,862,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3730:Slc35e4
|
UTSW |
11 |
3,862,577 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4650:Slc35e4
|
UTSW |
11 |
3,862,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4818:Slc35e4
|
UTSW |
11 |
3,862,889 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5195:Slc35e4
|
UTSW |
11 |
3,862,872 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6488:Slc35e4
|
UTSW |
11 |
3,862,602 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7094:Slc35e4
|
UTSW |
11 |
3,863,118 (GRCm39) |
missense |
probably benign |
|
|
R7259:Slc35e4
|
UTSW |
11 |
3,862,530 (GRCm39) |
splice site |
probably null |
|
|
R7316:Slc35e4
|
UTSW |
11 |
3,862,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:Slc35e4
|
UTSW |
11 |
3,863,087 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
RF005:Slc35e4
|
UTSW |
11 |
3,857,960 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
RF024:Slc35e4
|
UTSW |
11 |
3,857,960 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Slc35e4
|
UTSW |
11 |
3,863,156 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTGTGAACAGTGGTGTG -3'
(R):5'- TGAAGGCATGATGACCTCAGC -3'
Sequencing Primer
(F):5'- AGCTGTGCTAGGTCCAAGG -3'
(R):5'- GCATGATGACCTCAGCCGAAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation