Incidental Mutation 'R3435:Fam47e'
| ID |
267155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam47e
|
| Ensembl Gene |
ENSMUSG00000057068 |
| Gene Name |
family with sequence similarity 47, member E |
| Synonyms |
LOC384198, Gm1381 |
| MMRRC Submission |
040653-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3435 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92702928-92739138 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92733221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 152
(V152D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082382]
[ENSMUST00000131166]
[ENSMUST00000146417]
[ENSMUST00000175974]
[ENSMUST00000176448]
[ENSMUST00000176621]
|
| AlphaFold |
D3YWC7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082382
AA Change: V125D
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000080987
Gene: ENSMUSG00000057068
AA Change: V125D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
136 |
150 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131166
AA Change: V186D
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118033
Gene: ENSMUSG00000057068
AA Change: V186D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
197 |
211 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146417
AA Change: V328D
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115229
Gene: ENSMUSG00000057068
AA Change: V328D
| 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 |
probably damaging
Transcript: ENSMUST00000176448
AA Change: V152D
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176621
|
| Meta Mutation Damage Score |
0.2573 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
C |
2: 68,432,189 (GRCm39) |
D91A |
unknown |
Het |
| Abca9 |
T |
C |
11: 110,045,256 (GRCm39) |
E359G |
probably benign |
Het |
| Atp7a |
G |
A |
X: 105,138,463 (GRCm39) |
R563K |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,038,631 (GRCm39) |
D150G |
probably damaging |
Het |
| Gm19965 |
C |
A |
1: 116,749,353 (GRCm39) |
H345N |
possibly damaging |
Het |
| Ift74 |
A |
G |
4: 94,510,089 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
A |
G |
3: 88,001,911 (GRCm39) |
I384V |
probably benign |
Het |
| Lrrc57 |
T |
A |
2: 120,439,862 (GRCm39) |
|
probably benign |
Het |
| Mafk |
C |
T |
5: 139,786,062 (GRCm39) |
Q87* |
probably null |
Het |
| Mast2 |
A |
T |
4: 116,165,292 (GRCm39) |
S1314T |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,923,887 (GRCm39) |
I508T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,733,726 (GRCm39) |
|
probably null |
Het |
| Mup6 |
G |
T |
4: 60,004,116 (GRCm39) |
|
probably null |
Het |
| Neurl1a |
T |
C |
19: 47,245,964 (GRCm39) |
V532A |
probably damaging |
Het |
| Nod2 |
A |
G |
8: 89,390,637 (GRCm39) |
R293G |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,377,592 (GRCm39) |
D161E |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,690 (GRCm39) |
Q138L |
probably benign |
Het |
| Osbpl3 |
A |
T |
6: 50,325,050 (GRCm39) |
N149K |
possibly damaging |
Het |
| P2rx4 |
T |
A |
5: 122,863,133 (GRCm39) |
I202K |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,354,543 (GRCm39) |
L354P |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,178,772 (GRCm39) |
M889L |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,874,174 (GRCm39) |
Q52L |
possibly damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,294 (GRCm39) |
E320G |
possibly damaging |
Het |
| Stard13 |
A |
T |
5: 150,965,644 (GRCm39) |
L937Q |
probably damaging |
Het |
| Strn4 |
T |
C |
7: 16,571,558 (GRCm39) |
S563P |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,298,565 (GRCm39) |
D1114G |
probably damaging |
Het |
| Tmem117 |
T |
C |
15: 94,992,573 (GRCm39) |
I411T |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,546,028 (GRCm39) |
V203E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,709,062 (GRCm39) |
|
probably benign |
Het |
| Vmn1r209 |
A |
T |
13: 22,990,267 (GRCm39) |
M141K |
probably benign |
Het |
|
| Other mutations in Fam47e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00391:Fam47e
|
APN |
5 |
92,727,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTTGATATTTGAAACGACCAAC -3'
(R):5'- CCGTGTTTACCATGAAGGCAG -3'
Sequencing Primer
(F):5'- TTTGAAACGACCAACCAACTACTAAG -3'
(R):5'- GGCAGAATTCAAGCCTTGC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation