Incidental Mutation 'R5848:Fer1l5'
| ID |
453704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer1l5
|
| Ensembl Gene |
ENSMUSG00000037432 |
| Gene Name |
fer-1 like family member 5 |
| Synonyms |
4930533C12Rik |
| MMRRC Submission |
043225-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5848 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36411372-36461191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36428016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 437
(T437A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179162]
|
| AlphaFold |
P0DM40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179162
AA Change: T437A
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142130
Gene: ENSMUSG00000037432
AA Change: T437A
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
98 |
2.74e-4 |
SMART |
|
C2
|
168 |
264 |
4.29e-6 |
SMART |
|
FerI
|
250 |
323 |
1.59e-19 |
SMART |
|
C2
|
325 |
422 |
1.06e-5 |
SMART |
|
FerA
|
602 |
669 |
6.26e-18 |
SMART |
|
FerB
|
691 |
764 |
1.38e-37 |
SMART |
|
internal_repeat_1
|
781 |
836 |
1.77e-5 |
PROSPERO |
|
internal_repeat_1
|
852 |
904 |
1.77e-5 |
PROSPERO |
|
DysFC
|
913 |
951 |
1.61e-3 |
SMART |
|
DysFC
|
981 |
1013 |
4.81e-2 |
SMART |
|
C2
|
1078 |
1222 |
1.56e0 |
SMART |
|
Pfam:C2
|
1248 |
1329 |
1e-1 |
PFAM |
|
low complexity region
|
1376 |
1387 |
N/A |
INTRINSIC |
|
low complexity region
|
1459 |
1470 |
N/A |
INTRINSIC |
|
C2
|
1487 |
1586 |
2.21e-8 |
SMART |
|
C2
|
1659 |
1851 |
5.32e-2 |
SMART |
|
transmembrane domain
|
1964 |
1986 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000202030
AA Change: T130A
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Aadacl4 |
T |
A |
4: 144,344,428 (GRCm39) |
M68K |
probably benign |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Cdcp1 |
T |
A |
9: 123,012,770 (GRCm39) |
H259L |
possibly damaging |
Het |
| Ckap4 |
T |
C |
10: 84,369,354 (GRCm39) |
Q126R |
probably benign |
Het |
| Clec18a |
C |
T |
8: 111,802,093 (GRCm39) |
V299I |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,951,451 (GRCm39) |
I27T |
possibly damaging |
Het |
| Dlg2 |
T |
G |
7: 92,093,735 (GRCm39) |
D726E |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,947,165 (GRCm39) |
I1856T |
possibly damaging |
Het |
| Espl1 |
G |
A |
15: 102,231,011 (GRCm39) |
V1837I |
probably benign |
Het |
| Fanca |
G |
T |
8: 124,021,792 (GRCm39) |
|
probably benign |
Het |
| Gm10644 |
C |
A |
8: 84,660,668 (GRCm39) |
|
probably benign |
Het |
| Katnb1 |
A |
G |
8: 95,825,340 (GRCm39) |
S635G |
probably benign |
Het |
| Map3k12 |
A |
G |
15: 102,412,670 (GRCm39) |
V234A |
possibly damaging |
Het |
| Mks1 |
A |
G |
11: 87,747,696 (GRCm39) |
N193S |
probably benign |
Het |
| Mmp11 |
T |
C |
10: 75,763,223 (GRCm39) |
E151G |
probably damaging |
Het |
| Napg |
A |
G |
18: 63,127,440 (GRCm39) |
R265G |
possibly damaging |
Het |
| Odad2 |
T |
A |
18: 7,268,507 (GRCm39) |
|
probably null |
Het |
| Or5e1 |
T |
A |
7: 108,354,781 (GRCm39) |
C239* |
probably null |
Het |
| Or6e1 |
A |
G |
14: 54,520,022 (GRCm39) |
F110S |
possibly damaging |
Het |
| P3r3urf |
T |
C |
4: 116,030,812 (GRCm39) |
I72T |
probably damaging |
Het |
| Pcdha7 |
G |
T |
18: 37,108,136 (GRCm39) |
C387F |
probably damaging |
Het |
| Pcdhb3 |
G |
T |
18: 37,434,700 (GRCm39) |
R222L |
probably benign |
Het |
| Phf2 |
A |
G |
13: 48,973,546 (GRCm39) |
M373T |
unknown |
Het |
| Plekha7 |
T |
C |
7: 115,739,634 (GRCm39) |
T636A |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rnf6 |
G |
A |
5: 146,147,959 (GRCm39) |
P353L |
probably benign |
Het |
| Sel1l3 |
A |
C |
5: 53,342,150 (GRCm39) |
L357V |
possibly damaging |
Het |
| Sh3rf3 |
T |
A |
10: 58,819,975 (GRCm39) |
M262K |
possibly damaging |
Het |
| Sorcs3 |
A |
T |
19: 48,776,950 (GRCm39) |
H994L |
probably damaging |
Het |
| Thsd7a |
A |
T |
6: 12,503,922 (GRCm39) |
C411S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,593,682 (GRCm39) |
K20653E |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,708,908 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,611,264 (GRCm39) |
W15677R |
probably damaging |
Het |
| Ubr2 |
T |
C |
17: 47,267,581 (GRCm39) |
M1049V |
possibly damaging |
Het |
|
| Other mutations in Fer1l5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4151001:Fer1l5
|
UTSW |
1 |
36,450,728 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5580:Fer1l5
|
UTSW |
1 |
36,424,539 (GRCm39) |
nonsense |
probably null |
|
|
R5930:Fer1l5
|
UTSW |
1 |
36,424,254 (GRCm39) |
nonsense |
probably null |
|
|
R6193:Fer1l5
|
UTSW |
1 |
36,448,517 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6195:Fer1l5
|
UTSW |
1 |
36,414,367 (GRCm39) |
splice site |
probably null |
|
|
R6207:Fer1l5
|
UTSW |
1 |
36,424,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6233:Fer1l5
|
UTSW |
1 |
36,414,367 (GRCm39) |
splice site |
probably null |
|
|
R6349:Fer1l5
|
UTSW |
1 |
36,450,355 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6478:Fer1l5
|
UTSW |
1 |
36,441,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6514:Fer1l5
|
UTSW |
1 |
36,442,697 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6611:Fer1l5
|
UTSW |
1 |
36,445,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6634:Fer1l5
|
UTSW |
1 |
36,450,466 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6733:Fer1l5
|
UTSW |
1 |
36,447,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6816:Fer1l5
|
UTSW |
1 |
36,445,591 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7225:Fer1l5
|
UTSW |
1 |
36,460,033 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7316:Fer1l5
|
UTSW |
1 |
36,457,197 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7455:Fer1l5
|
UTSW |
1 |
36,428,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7473:Fer1l5
|
UTSW |
1 |
36,460,689 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7702:Fer1l5
|
UTSW |
1 |
36,459,775 (GRCm39) |
nonsense |
probably null |
|
|
R7714:Fer1l5
|
UTSW |
1 |
36,440,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7872:Fer1l5
|
UTSW |
1 |
36,460,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7881:Fer1l5
|
UTSW |
1 |
36,446,117 (GRCm39) |
missense |
not run |
|
|
R7984:Fer1l5
|
UTSW |
1 |
36,447,702 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8326:Fer1l5
|
UTSW |
1 |
36,415,841 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8523:Fer1l5
|
UTSW |
1 |
36,426,271 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8528:Fer1l5
|
UTSW |
1 |
36,456,855 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8975:Fer1l5
|
UTSW |
1 |
36,456,897 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9011:Fer1l5
|
UTSW |
1 |
36,441,601 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9084:Fer1l5
|
UTSW |
1 |
36,429,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9140:Fer1l5
|
UTSW |
1 |
36,460,047 (GRCm39) |
intron |
probably benign |
|
|
R9180:Fer1l5
|
UTSW |
1 |
36,449,999 (GRCm39) |
missense |
probably null |
1.00 |
|
R9312:Fer1l5
|
UTSW |
1 |
36,460,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Fer1l5
|
UTSW |
1 |
36,442,662 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9655:Fer1l5
|
UTSW |
1 |
36,460,696 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1176:Fer1l5
|
UTSW |
1 |
36,429,644 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Fer1l5
|
UTSW |
1 |
36,448,275 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTGGGTCAGCCAGCTTG -3'
(R):5'- ATGGCTATTTATATACCCATACCCACC -3'
Sequencing Primer
(F):5'- AGCTTGTGCCTCAGCCAGATC -3'
(R):5'- CCTCTTCTGGAAGGAGGAAGTC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation