Incidental Mutation 'R6634:Fer1l5'
| ID |
525362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer1l5
|
| Ensembl Gene |
ENSMUSG00000037432 |
| Gene Name |
fer-1 like family member 5 |
| Synonyms |
4930533C12Rik |
| MMRRC Submission |
044756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6634 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
36411372-36461191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36450466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1212
(T1212A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179162]
|
| AlphaFold |
P0DM40 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179162
AA Change: T1212A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142130
Gene: ENSMUSG00000037432
AA Change: T1212A
| 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 |
|
| Meta Mutation Damage Score |
0.1527 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,094,127 (GRCm39) |
|
probably null |
Het |
| Alox12b |
C |
A |
11: 69,059,647 (GRCm39) |
Y566* |
probably null |
Het |
| Chl1 |
T |
A |
6: 103,667,220 (GRCm39) |
S403R |
probably damaging |
Het |
| Cpa5 |
T |
A |
6: 30,626,363 (GRCm39) |
D241E |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Cyp2t4 |
C |
A |
7: 26,855,213 (GRCm39) |
C121* |
probably null |
Het |
| Dkkl1 |
C |
A |
7: 44,859,882 (GRCm39) |
R56L |
possibly damaging |
Het |
| Ebf3 |
A |
G |
7: 136,802,889 (GRCm39) |
V387A |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,784,609 (GRCm39) |
M2797T |
probably benign |
Het |
| Galnt16 |
T |
A |
12: 80,565,944 (GRCm39) |
M1K |
probably null |
Het |
| Gm5800 |
A |
G |
14: 51,953,595 (GRCm39) |
S7P |
possibly damaging |
Het |
| Gstp1 |
T |
A |
19: 4,085,510 (GRCm39) |
H199L |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,345,026 (GRCm39) |
S1940P |
probably benign |
Het |
| Igkv8-24 |
C |
T |
6: 70,194,365 (GRCm39) |
W14* |
probably null |
Het |
| Iqcd |
C |
A |
5: 120,738,556 (GRCm39) |
Q125K |
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,553,413 (GRCm39) |
D812E |
probably damaging |
Het |
| Ltb4r2 |
T |
A |
14: 55,999,962 (GRCm39) |
|
probably null |
Het |
| Morc2a |
T |
C |
11: 3,622,376 (GRCm39) |
|
probably null |
Het |
| Myh1 |
A |
T |
11: 67,099,890 (GRCm39) |
N600I |
possibly damaging |
Het |
| Nedd9 |
T |
A |
13: 41,465,584 (GRCm39) |
K685N |
probably damaging |
Het |
| Or10aa3 |
A |
G |
1: 173,878,535 (GRCm39) |
I199V |
probably benign |
Het |
| Otogl |
A |
C |
10: 107,698,165 (GRCm39) |
V735G |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 81,964,656 (GRCm39) |
Y274* |
probably null |
Het |
| Pias1 |
A |
T |
9: 62,826,706 (GRCm39) |
I252N |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 71,942,755 (GRCm39) |
D844G |
probably null |
Het |
| Satb2 |
G |
T |
1: 56,884,880 (GRCm39) |
S348* |
probably null |
Het |
| Sfxn1 |
T |
A |
13: 54,247,048 (GRCm39) |
V180D |
probably damaging |
Het |
| Slc35g3 |
A |
T |
11: 69,651,109 (GRCm39) |
V314D |
probably damaging |
Het |
| Tmem200c |
C |
A |
17: 69,149,101 (GRCm39) |
D561E |
probably benign |
Het |
| Usp53 |
T |
A |
3: 122,757,935 (GRCm39) |
Q69L |
probably benign |
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 |
|
|
R5848:Fer1l5
|
UTSW |
1 |
36,428,016 (GRCm39) |
missense |
probably benign |
0.39 |
|
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 |
|
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'- AGAAGTCCATGCTGGTAGCC -3'
(R):5'- TTTCAGCTTCTGGAGGGCAG -3'
Sequencing Primer
(F):5'- GTTGGTTGCCTACATTCTATGAAC -3'
(R):5'- CAGCTTCTGGAGGGCAGAAGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation