Incidental Mutation 'R6611:Fer1l5'
| ID |
523551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer1l5
|
| Ensembl Gene |
ENSMUSG00000037432 |
| Gene Name |
fer-1 like family member 5 |
| Synonyms |
4930533C12Rik |
| MMRRC Submission |
044734-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6611 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
36411372-36461191 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36445735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 834
(V834A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179162]
|
| AlphaFold |
P0DM40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179162
AA Change: V834A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000142130
Gene: ENSMUSG00000037432
AA Change: V834A
| 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: ENSMUST00000202030
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
A |
T |
6: 40,943,713 (GRCm39) |
T126S |
probably benign |
Het |
| Bex6 |
A |
G |
16: 32,005,483 (GRCm39) |
K97R |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,459,658 (GRCm39) |
L311P |
probably damaging |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cdc16 |
C |
A |
8: 13,831,512 (GRCm39) |
P582T |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,397,377 (GRCm39) |
I280T |
possibly damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,660,128 (GRCm39) |
Y666H |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,143,313 (GRCm39) |
F527L |
probably damaging |
Het |
| Drc3 |
G |
T |
11: 60,255,773 (GRCm39) |
R120L |
probably damaging |
Het |
| Efcab6 |
T |
A |
15: 83,777,036 (GRCm39) |
R1133S |
possibly damaging |
Het |
| Flnb |
A |
G |
14: 7,915,318 (GRCm38) |
Y1483C |
probably damaging |
Het |
| Fstl4 |
A |
T |
11: 53,077,552 (GRCm39) |
M770L |
probably benign |
Het |
| Gm10428 |
A |
T |
11: 62,644,115 (GRCm39) |
|
probably benign |
Het |
| Hmbs |
C |
A |
9: 44,252,988 (GRCm39) |
R15L |
probably damaging |
Het |
| Irx3 |
T |
C |
8: 92,526,631 (GRCm39) |
T358A |
probably damaging |
Het |
| Kmt2a |
T |
A |
9: 44,760,569 (GRCm39) |
I460L |
probably damaging |
Het |
| Mob2 |
G |
T |
7: 141,563,293 (GRCm39) |
F55L |
probably damaging |
Het |
| Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 59,202,228 (GRCm39) |
L612P |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,955,056 (GRCm39) |
|
probably null |
Het |
| Or4d5 |
T |
C |
9: 40,012,316 (GRCm39) |
I157V |
probably benign |
Het |
| Or5j1 |
A |
T |
2: 86,879,577 (GRCm39) |
M1K |
probably null |
Het |
| Or8b44 |
A |
T |
9: 38,410,534 (GRCm39) |
T190S |
probably damaging |
Het |
| Oxct2a |
T |
C |
4: 123,216,640 (GRCm39) |
E247G |
probably damaging |
Het |
| Phykpl |
G |
T |
11: 51,489,181 (GRCm39) |
A336S |
probably damaging |
Het |
| Pik3r4 |
T |
G |
9: 105,521,476 (GRCm39) |
L14R |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,320,393 (GRCm39) |
I300T |
probably damaging |
Het |
| Rictor |
T |
G |
15: 6,780,140 (GRCm39) |
C132G |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Slc9a9 |
G |
T |
9: 94,821,531 (GRCm39) |
R306L |
probably benign |
Het |
| Smc5 |
A |
G |
19: 23,206,283 (GRCm39) |
V681A |
probably benign |
Het |
| Snap91 |
C |
T |
9: 86,672,180 (GRCm39) |
S646N |
probably benign |
Het |
| Ssh3 |
T |
C |
19: 4,314,450 (GRCm39) |
N368S |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 4,995,273 (GRCm39) |
N8326K |
probably benign |
Het |
| Traf3 |
T |
G |
12: 111,204,074 (GRCm39) |
L21R |
possibly damaging |
Het |
| Ubxn11 |
C |
A |
4: 133,850,910 (GRCm39) |
T254K |
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 |
|
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'- GGTTGGGGATCAAGAGTCTC -3'
(R):5'- TTGAGCAAAGCCGAGCCTAG -3'
Sequencing Primer
(F):5'- TTGGGGATCAAGAGTCTCAACATCC -3'
(R):5'- CCTAGCATACAGACAGGGTATTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation