Incidental Mutation 'R6733:Fer1l5'
ID |
530132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l5
|
Ensembl Gene |
ENSMUSG00000037432 |
Gene Name |
fer-1 like family member 5 |
Synonyms |
4930533C12Rik |
MMRRC Submission |
044851-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R6733 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
36411372-36461191 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 36447753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142130
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179162]
[ENSMUST00000179162]
|
AlphaFold |
P0DM40 |
Predicted Effect |
probably null
Transcript: ENSMUST00000179162
|
SMART Domains |
Protein: ENSMUSP00000142130 Gene: ENSMUSG00000037432
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 null
Transcript: ENSMUST00000179162
|
SMART Domains |
Protein: ENSMUSP00000142130 Gene: ENSMUSG00000037432
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: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afdn |
C |
T |
17: 14,043,615 (GRCm39) |
H358Y |
probably benign |
Het |
Aoc1l2 |
T |
C |
6: 48,907,464 (GRCm39) |
S155P |
probably damaging |
Het |
Ccdc125 |
T |
A |
13: 100,830,995 (GRCm39) |
M394K |
probably benign |
Het |
Cfd |
C |
A |
10: 79,727,636 (GRCm39) |
H103Q |
probably damaging |
Het |
Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
Dedd2 |
T |
C |
7: 24,903,332 (GRCm39) |
E209G |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,522,197 (GRCm39) |
S3999P |
probably benign |
Het |
H6pd |
A |
T |
4: 150,069,578 (GRCm39) |
|
probably null |
Het |
Il25 |
T |
C |
14: 55,170,490 (GRCm39) |
I21T |
probably benign |
Het |
Kmt2c |
C |
T |
5: 25,614,291 (GRCm39) |
S143N |
probably damaging |
Het |
Marveld3 |
T |
C |
8: 110,688,681 (GRCm39) |
D20G |
possibly damaging |
Het |
Msl1 |
A |
G |
11: 98,690,882 (GRCm39) |
E122G |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,919,421 (GRCm39) |
V6861E |
probably damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,605 (GRCm39) |
C180S |
probably damaging |
Het |
Phc1 |
A |
T |
6: 122,313,845 (GRCm39) |
M29K |
possibly damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,375,126 (GRCm39) |
|
probably null |
Het |
Prl5a1 |
G |
T |
13: 28,333,919 (GRCm39) |
V141F |
possibly damaging |
Het |
Psg20 |
A |
T |
7: 18,408,547 (GRCm39) |
V391D |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,606,043 (GRCm39) |
|
probably null |
Het |
Rasa3 |
T |
C |
8: 13,630,037 (GRCm39) |
E580G |
possibly damaging |
Het |
Ror1 |
T |
C |
4: 100,283,252 (GRCm39) |
V439A |
probably benign |
Het |
Rsl1 |
A |
G |
13: 67,325,206 (GRCm39) |
T81A |
probably benign |
Het |
Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
Slc22a8 |
T |
C |
19: 8,586,656 (GRCm39) |
L389P |
probably benign |
Het |
Slc6a11 |
A |
G |
6: 114,111,859 (GRCm39) |
Y142C |
probably damaging |
Het |
Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
Thop1 |
T |
A |
10: 80,917,246 (GRCm39) |
I583N |
probably damaging |
Het |
Tom1l1 |
A |
G |
11: 90,575,886 (GRCm39) |
|
probably null |
Het |
Unk |
A |
G |
11: 115,941,581 (GRCm39) |
D276G |
probably damaging |
Het |
Zfp942 |
C |
A |
17: 22,147,733 (GRCm39) |
E299* |
probably null |
Het |
Zkscan6 |
A |
G |
11: 65,719,461 (GRCm39) |
T494A |
probably damaging |
Het |
Zscan25 |
T |
A |
5: 145,227,723 (GRCm39) |
|
probably null |
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 |
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'- AAGTCACGATGCTGCTCCTG -3'
(R):5'- ATATGGAAGCTACACCCCTGTC -3'
Sequencing Primer
(F):5'- CTCCTGCAGGCTGGGAGTATG -3'
(R):5'- TCCTTGTTGGGCGCCAG -3'
|
Posted On |
2018-08-01 |