Incidental Mutation 'IGL00424:Fmnl1'
ID | 4486 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fmnl1
|
Ensembl Gene |
ENSMUSG00000055805 |
Gene Name | formin-like 1 |
Synonyms | formin-related gene in leukocytes, 8030453N10Rik |
Accession Numbers | |
Is this an essential gene? |
Probably non essential (E-score: 0.125)
|
Stock # | IGL00424
|
Quality Score | |
Status |
|
Chromosome | 11 |
Chromosomal Location | 103171107-103198901 bp(+) (GRCm38) |
Type of Mutation | nonsense |
DNA Base Change (assembly) |
G to A
at 103197340 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 1008
(W1008*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021323]
[ENSMUST00000042286]
[ENSMUST00000107026]
[ENSMUST00000107027]
[ENSMUST00000129726]
[ENSMUST00000172850]
[ENSMUST00000174567]
[ENSMUST00000218163]
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000021322
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000021323
|
SMART Domains |
Protein: ENSMUSP00000021323 Gene: ENSMUSG00000020940
Domain | Start | End | E-Value | Type |
EFh
|
109 |
137 |
7.23e1 |
SMART |
EFh
|
145 |
173 |
6.68e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000042286
AA Change: W1002*
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805 AA Change: W1002*
Domain | Start | End | E-Value | Type |
Drf_GBD
|
27 |
280 |
1.04e-87 |
SMART |
Drf_FH3
|
283 |
632 |
2.29e-75 |
SMART |
FH2
|
627 |
1057 |
4.35e-142 |
SMART |
low complexity region
|
1074 |
1087 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107026
|
SMART Domains |
Protein: ENSMUSP00000102641 Gene: ENSMUSG00000020940
Domain | Start | End | E-Value | Type |
EFh
|
40 |
68 |
7.23e1 |
SMART |
EFh
|
76 |
104 |
6.68e-1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107027
AA Change: W1002*
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805 AA Change: W1002*
Domain | Start | End | E-Value | Type |
Drf_GBD
|
27 |
280 |
1.04e-87 |
SMART |
Drf_FH3
|
283 |
632 |
2.29e-75 |
SMART |
FH2
|
627 |
1057 |
4.35e-142 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000129726
AA Change: W59*
|
SMART Domains |
Protein: ENSMUSP00000133299 Gene: ENSMUSG00000055805 AA Change: W59*
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
50 |
8.2e-10 |
PFAM |
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140559
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172850
|
SMART Domains |
Protein: ENSMUSP00000139837 Gene: ENSMUSG00000020940
Domain | Start | End | E-Value | Type |
EFh
|
109 |
137 |
3.5e-1 |
SMART |
EFh
|
145 |
173 |
3.2e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174079
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174567
|
SMART Domains |
Protein: ENSMUSP00000134292 Gene: ENSMUSG00000020940
Domain | Start | End | E-Value | Type |
SCOP:d1mr8a_
|
153 |
209 |
5e-8 |
SMART |
Blast:EFh
|
159 |
187 |
4e-12 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000218163
AA Change: W1008*
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Constitutive homozygous KO is embryonic lethal. Conditional homozygous KO in myeloid cells leads to reduced macrophage migration and podosome formation. [provided by MGI curators]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh1 |
A |
G |
3: 138,282,499 |
E108G |
probably benign |
Het |
Afap1l2 |
A |
G |
19: 57,002,308 |
|
probably benign |
Het |
Als2cl |
T |
C |
9: 110,886,539 |
|
probably null |
Het |
Bpifb1 |
A |
G |
2: 154,217,167 |
|
probably benign |
Het |
Cux2 |
G |
A |
5: 121,868,538 |
R890W |
possibly damaging |
Het |
Fancb |
A |
C |
X: 164,983,338 |
Q272P |
probably damaging |
Het |
Gfra2 |
T |
A |
14: 70,968,239 |
|
probably benign |
Het |
Gjd2 |
A |
G |
2: 114,011,777 |
I73T |
probably damaging |
Het |
Itgae |
T |
C |
11: 73,145,635 |
I1133T |
probably benign |
Het |
Kcnh1 |
T |
A |
1: 192,418,882 |
V594E |
probably damaging |
Het |
Maml2 |
T |
A |
9: 13,620,912 |
V474E |
probably damaging |
Het |
Mysm1 |
G |
A |
4: 94,972,909 |
|
probably benign |
Het |
Ntrk3 |
C |
T |
7: 78,250,873 |
A573T |
probably benign |
Het |
Pi4kb |
A |
G |
3: 95,004,263 |
D348G |
probably damaging |
Het |
Prol1 |
A |
G |
5: 88,327,859 |
Y36C |
probably benign |
Het |
Rfx6 |
T |
A |
10: 51,681,886 |
C152S |
probably damaging |
Het |
Rpp14 |
G |
A |
14: 8,083,934 |
G30E |
possibly damaging |
Het |
Tnxb |
T |
G |
17: 34,714,692 |
F2362C |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,398,595 |
|
probably benign |
Het |
Trf |
G |
A |
9: 103,226,936 |
A76V |
probably damaging |
Het |
Tubgcp3 |
C |
T |
8: 12,621,809 |
R811H |
probably benign |
Het |
Zfp820 |
A |
T |
17: 21,819,311 |
H345Q |
probably damaging |
Het |
|
Other mutations in Fmnl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00972:Fmnl1
|
APN |
11 |
103180955 |
missense |
probably damaging |
1.00 |
IGL01406:Fmnl1
|
APN |
11 |
103194690 |
unclassified |
probably benign |
|
IGL01417:Fmnl1
|
APN |
11 |
103196694 |
unclassified |
probably benign |
|
IGL01599:Fmnl1
|
APN |
11 |
103186656 |
missense |
probably damaging |
1.00 |
IGL02151:Fmnl1
|
APN |
11 |
103192772 |
missense |
probably benign |
0.38 |
IGL02324:Fmnl1
|
APN |
11 |
103179538 |
missense |
probably damaging |
1.00 |
IGL02812:Fmnl1
|
APN |
11 |
103196766 |
unclassified |
probably benign |
|
IGL03369:Fmnl1
|
APN |
11 |
103197182 |
splice site |
probably null |
|
R0077:Fmnl1
|
UTSW |
11 |
103189969 |
missense |
probably damaging |
1.00 |
R0241:Fmnl1
|
UTSW |
11 |
103182170 |
critical splice donor site |
probably null |
|
R0241:Fmnl1
|
UTSW |
11 |
103182170 |
critical splice donor site |
probably null |
|
R0413:Fmnl1
|
UTSW |
11 |
103194063 |
splice site |
probably benign |
|
R1170:Fmnl1
|
UTSW |
11 |
103197370 |
missense |
probably benign |
0.02 |
R1389:Fmnl1
|
UTSW |
11 |
103186709 |
splice site |
probably null |
|
R1794:Fmnl1
|
UTSW |
11 |
103197147 |
missense |
probably benign |
0.00 |
R2082:Fmnl1
|
UTSW |
11 |
103192025 |
missense |
probably damaging |
1.00 |
R2105:Fmnl1
|
UTSW |
11 |
103194692 |
missense |
probably benign |
0.39 |
R3611:Fmnl1
|
UTSW |
11 |
103194765 |
unclassified |
probably benign |
|
R3883:Fmnl1
|
UTSW |
11 |
103182114 |
missense |
probably damaging |
1.00 |
R3893:Fmnl1
|
UTSW |
11 |
103196757 |
unclassified |
probably benign |
|
R4658:Fmnl1
|
UTSW |
11 |
103197694 |
missense |
probably damaging |
1.00 |
R4689:Fmnl1
|
UTSW |
11 |
103193736 |
critical splice donor site |
probably null |
|
R4812:Fmnl1
|
UTSW |
11 |
103198564 |
unclassified |
probably benign |
|
R4996:Fmnl1
|
UTSW |
11 |
103182656 |
missense |
possibly damaging |
0.58 |
R5646:Fmnl1
|
UTSW |
11 |
103196512 |
unclassified |
probably benign |
|
R5702:Fmnl1
|
UTSW |
11 |
103185665 |
missense |
probably damaging |
1.00 |
R5850:Fmnl1
|
UTSW |
11 |
103195285 |
unclassified |
probably benign |
|
R5903:Fmnl1
|
UTSW |
11 |
103171444 |
splice site |
probably null |
|
R6254:Fmnl1
|
UTSW |
11 |
103196315 |
unclassified |
probably benign |
|
R6958:Fmnl1
|
UTSW |
11 |
103171314 |
start codon destroyed |
probably null |
1.00 |
R7030:Fmnl1
|
UTSW |
11 |
103194774 |
unclassified |
probably benign |
|
R7133:Fmnl1
|
UTSW |
11 |
103181784 |
critical splice donor site |
probably null |
|
R7171:Fmnl1
|
UTSW |
11 |
103190398 |
missense |
probably damaging |
1.00 |
R7224:Fmnl1
|
UTSW |
11 |
103182769 |
critical splice donor site |
probably null |
|
R7282:Fmnl1
|
UTSW |
11 |
103196265 |
missense |
unknown |
|
R7448:Fmnl1
|
UTSW |
11 |
103186627 |
missense |
probably damaging |
1.00 |
R7463:Fmnl1
|
UTSW |
11 |
103193128 |
missense |
probably damaging |
1.00 |
R7831:Fmnl1
|
UTSW |
11 |
103198173 |
missense |
unknown |
|
R7862:Fmnl1
|
UTSW |
11 |
103180930 |
missense |
probably damaging |
1.00 |
R7973:Fmnl1
|
UTSW |
11 |
103171158 |
start gained |
probably benign |
|
R8177:Fmnl1
|
UTSW |
11 |
103189959 |
missense |
probably damaging |
0.98 |
R8273:Fmnl1
|
UTSW |
11 |
103186699 |
missense |
probably damaging |
1.00 |
R8345:Fmnl1
|
UTSW |
11 |
103186614 |
missense |
possibly damaging |
0.88 |
R8507:Fmnl1
|
UTSW |
11 |
103194033 |
missense |
unknown |
|
|
Posted On | 2012-04-20 |