Incidental Mutation 'R8528:Fer1l5'
| ID |
658878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer1l5
|
| Ensembl Gene |
ENSMUSG00000037432 |
| Gene Name |
fer-1 like family member 5 |
| Synonyms |
4930533C12Rik |
| MMRRC Submission |
068498-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R8528 (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 36456855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1611
(Y1611C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000125304]
[ENSMUST00000140452]
[ENSMUST00000179162]
|
| AlphaFold |
P0DM40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125304
|
| SMART Domains |
Protein: ENSMUSP00000117200
Gene: ENSMUSG00000001143
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Lectin_leg-like
|
48 |
275 |
3.2e-88 |
PFAM |
|
transmembrane domain
|
313 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140452
AA Change: Y100C
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144430
Gene: ENSMUSG00000037432
AA Change: Y100C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:C2
|
1 |
78 |
1.4e-5 |
PFAM |
|
Blast:C2
|
148 |
209 |
3e-37 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179162
AA Change: Y1611C
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142130
Gene: ENSMUSG00000037432
AA Change: Y1611C
| 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 |
probably benign
Transcript: ENSMUST00000192969
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
A |
C |
15: 74,447,700 (GRCm39) |
I169L |
possibly damaging |
Het |
| Ahnak |
A |
T |
19: 8,985,092 (GRCm39) |
K2125N |
probably damaging |
Het |
| Arl5b |
T |
A |
2: 15,078,138 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
T |
C |
5: 93,417,164 (GRCm39) |
V60A |
possibly damaging |
Het |
| Cfap65 |
A |
G |
1: 74,945,096 (GRCm39) |
V1442A |
possibly damaging |
Het |
| Cyp1b1 |
T |
A |
17: 80,017,993 (GRCm39) |
E387D |
probably damaging |
Het |
| Dchs2 |
T |
C |
3: 83,261,918 (GRCm39) |
S2729P |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,972,538 (GRCm39) |
F2882S |
probably damaging |
Het |
| Dpy30 |
T |
C |
17: 74,606,757 (GRCm39) |
D97G |
probably benign |
Het |
| Enam |
T |
A |
5: 88,650,078 (GRCm39) |
V454E |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,614,757 (GRCm39) |
C240* |
probably null |
Het |
| Exog |
A |
G |
9: 119,291,686 (GRCm39) |
D297G |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Firrm |
T |
C |
1: 163,813,652 (GRCm39) |
K191E |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,285,034 (GRCm39) |
V1285A |
probably benign |
Het |
| Gfpt1 |
G |
C |
6: 87,043,770 (GRCm39) |
|
probably null |
Het |
| Gm15446 |
T |
C |
5: 110,090,896 (GRCm39) |
Y383H |
possibly damaging |
Het |
| Gsdmc |
A |
T |
15: 63,649,189 (GRCm39) |
|
probably null |
Het |
| Hao1 |
A |
G |
2: 134,364,913 (GRCm39) |
I238T |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,300,387 (GRCm39) |
D79E |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,145,557 (GRCm39) |
Y124H |
probably damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,352 (GRCm39) |
M254K |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,451,821 (GRCm39) |
N1489S |
probably damaging |
Het |
| Mapk8ip2 |
A |
G |
15: 89,339,422 (GRCm39) |
D34G |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,767,423 (GRCm39) |
T876A |
probably damaging |
Het |
| Pabpc2 |
C |
T |
18: 39,908,439 (GRCm39) |
T568I |
probably benign |
Het |
| Pcdhga2 |
G |
T |
18: 37,802,221 (GRCm39) |
A22S |
probably benign |
Het |
| Rc3h2 |
G |
A |
2: 37,272,811 (GRCm39) |
T755I |
probably benign |
Het |
| Sertad4 |
A |
G |
1: 192,533,391 (GRCm39) |
V15A |
probably benign |
Het |
| Slc28a2 |
A |
G |
2: 122,286,223 (GRCm39) |
K520E |
probably damaging |
Het |
| Slc4a10 |
T |
C |
2: 62,127,140 (GRCm39) |
V831A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,031,501 (GRCm39) |
I2255F |
possibly damaging |
Het |
| Sprn |
C |
T |
7: 139,733,423 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
T |
C |
7: 102,080,289 (GRCm39) |
|
probably benign |
Het |
| Stk24 |
C |
A |
14: 121,529,447 (GRCm39) |
A402S |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,016,326 (GRCm39) |
L712P |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,795,668 (GRCm39) |
G269S |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,342,545 (GRCm39) |
E308G |
possibly damaging |
Het |
| Zfp442 |
A |
C |
2: 150,250,962 (GRCm39) |
H312Q |
probably 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 |
|
|
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 |
|
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 |
|
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'- TTCCGGAGACATAGCTGGGAAC -3'
(R):5'- ATTGGAAAGACGCTACCCAAGG -3'
Sequencing Primer
(F):5'- AACTGGGCTAGACCTGCCTC -3'
(R):5'- AGGGCAAATTCTCCTCACCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation