Incidental Mutation 'IGL00391:Fam47e'
| ID |
5587 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam47e
|
| Ensembl Gene |
ENSMUSG00000057068 |
| Gene Name |
family with sequence similarity 47, member E |
| Synonyms |
LOC384198, Gm1381 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92702928-92739138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 92727522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 143
(E143D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082382]
[ENSMUST00000131166]
[ENSMUST00000146417]
[ENSMUST00000175974]
[ENSMUST00000176448]
[ENSMUST00000176621]
|
| AlphaFold |
D3YWC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082382
|
| SMART Domains |
Protein: ENSMUSP00000080987
Gene: ENSMUSG00000057068
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
136 |
150 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131166
AA Change: E143D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118033
Gene: ENSMUSG00000057068
AA Change: E143D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
197 |
211 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146417
AA Change: E285D
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115229
Gene: ENSMUSG00000057068
AA Change: E285D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM47
|
17 |
191 |
1.7e-31 |
PFAM |
|
low complexity region
|
339 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175974
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176448
AA Change: E109D
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176621
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,078,666 (GRCm39) |
F519L |
probably damaging |
Het |
| Adgrl3 |
G |
A |
5: 81,872,071 (GRCm39) |
V990M |
probably damaging |
Het |
| Ap4b1 |
A |
G |
3: 103,728,858 (GRCm39) |
T499A |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,314,894 (GRCm39) |
|
probably benign |
Het |
| Ccr5 |
T |
A |
9: 123,924,443 (GRCm39) |
D15E |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,621,322 (GRCm39) |
V584A |
possibly damaging |
Het |
| Cmtr1 |
T |
C |
17: 29,893,236 (GRCm39) |
M85T |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,755,977 (GRCm39) |
H104L |
probably damaging |
Het |
| Coq9 |
A |
T |
8: 95,577,145 (GRCm39) |
K170M |
probably damaging |
Het |
| Elmod1 |
A |
G |
9: 53,831,682 (GRCm39) |
|
probably null |
Het |
| Faxc |
A |
G |
4: 21,948,725 (GRCm39) |
K146E |
probably damaging |
Het |
| Myo7b |
A |
C |
18: 32,154,609 (GRCm39) |
|
probably benign |
Het |
| Nmur1 |
G |
A |
1: 86,314,193 (GRCm39) |
R381C |
probably damaging |
Het |
| Nsd2 |
T |
G |
5: 34,013,077 (GRCm39) |
D469E |
probably damaging |
Het |
| Osbpl6 |
G |
A |
2: 76,420,783 (GRCm39) |
C786Y |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 16,006,439 (GRCm39) |
Y85C |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,532,967 (GRCm39) |
C1587R |
probably damaging |
Het |
| Plaat5 |
A |
T |
19: 7,596,631 (GRCm39) |
|
probably benign |
Het |
| Plekha2 |
A |
G |
8: 25,547,343 (GRCm39) |
V247A |
probably damaging |
Het |
| Plppr5 |
A |
T |
3: 117,465,592 (GRCm39) |
N281I |
possibly damaging |
Het |
| Popdc3 |
A |
G |
10: 45,193,922 (GRCm39) |
|
probably null |
Het |
| Ppp1r12a |
A |
G |
10: 108,034,709 (GRCm39) |
N85D |
probably damaging |
Het |
| Serpinb8 |
A |
G |
1: 107,534,714 (GRCm39) |
S262G |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,474,320 (GRCm39) |
G4780R |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,648,258 (GRCm39) |
E4621G |
probably damaging |
Het |
|
| Other mutations in Fam47e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0646:Fam47e
|
UTSW |
5 |
92,726,317 (GRCm39) |
intron |
probably benign |
|
|
R1170:Fam47e
|
UTSW |
5 |
92,713,781 (GRCm39) |
splice site |
probably benign |
|
|
R1216:Fam47e
|
UTSW |
5 |
92,710,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1926:Fam47e
|
UTSW |
5 |
92,733,244 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3434:Fam47e
|
UTSW |
5 |
92,733,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3435:Fam47e
|
UTSW |
5 |
92,733,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4899:Fam47e
|
UTSW |
5 |
92,722,528 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4925:Fam47e
|
UTSW |
5 |
92,733,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5885:Fam47e
|
UTSW |
5 |
92,713,827 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6060:Fam47e
|
UTSW |
5 |
92,727,472 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6278:Fam47e
|
UTSW |
5 |
92,710,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6964:Fam47e
|
UTSW |
5 |
92,713,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7661:Fam47e
|
UTSW |
5 |
92,735,384 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7992:Fam47e
|
UTSW |
5 |
92,722,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8349:Fam47e
|
UTSW |
5 |
92,702,990 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8449:Fam47e
|
UTSW |
5 |
92,702,990 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9058:Fam47e
|
UTSW |
5 |
92,719,367 (GRCm39) |
start gained |
probably benign |
|
|
R9260:Fam47e
|
UTSW |
5 |
92,735,384 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9595:Fam47e
|
UTSW |
5 |
92,726,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9596:Fam47e
|
UTSW |
5 |
92,726,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9624:Fam47e
|
UTSW |
5 |
92,726,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Fam47e
|
UTSW |
5 |
92,727,527 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Posted On |
2012-04-20 |
Incidental Mutation