Incidental Mutation 'IGL02151:Fmnl1'
| ID |
282029 |
| 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 |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
IGL02151
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
103171107-103198901 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103192772 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 441
(T441A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042286]
[ENSMUST00000107027]
[ENSMUST00000129726]
[ENSMUST00000218163]
|
| AlphaFold |
Q9JL26 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000021322
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042286
AA Change: T441A
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: T441A
| 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: ENSMUST00000107027
AA Change: T441A
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: T441A
| 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 |
noncoding transcript
Transcript: ENSMUST00000126425
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129726
|
| SMART Domains |
Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805
| 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: ENSMUST00000154871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174079
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218163
AA Change: T447A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
G |
T |
5: 49,979,142 (GRCm38) |
T667N |
probably benign |
Het |
| Aff4 |
T |
C |
11: 53,399,806 (GRCm38) |
I531T |
probably benign |
Het |
| Akap9 |
C |
T |
5: 4,032,728 (GRCm38) |
Q1951* |
probably null |
Het |
| Arhgef10 |
C |
T |
8: 14,928,889 (GRCm38) |
T52M |
possibly damaging |
Het |
| Atg2a |
A |
G |
19: 6,255,757 (GRCm38) |
E1132G |
possibly damaging |
Het |
| AW551984 |
A |
C |
9: 39,592,945 (GRCm38) |
I575S |
probably benign |
Het |
| Cfap299 |
C |
T |
5: 98,329,442 (GRCm38) |
T24M |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,943,808 (GRCm38) |
E460G |
probably damaging |
Het |
| Ctse |
A |
G |
1: 131,672,535 (GRCm38) |
I341V |
probably benign |
Het |
| Dcpp1 |
A |
T |
17: 23,882,594 (GRCm38) |
I106L |
possibly damaging |
Het |
| Dcxr |
T |
A |
11: 120,725,983 (GRCm38) |
M158L |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,059,888 (GRCm38) |
|
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,472,864 (GRCm38) |
I3013F |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,648,417 (GRCm38) |
D281G |
possibly damaging |
Het |
| Dpysl3 |
G |
A |
18: 43,358,300 (GRCm38) |
H136Y |
probably damaging |
Het |
| Eaf1 |
C |
T |
14: 31,497,787 (GRCm38) |
T61M |
probably damaging |
Het |
| Hmgcll1 |
C |
T |
9: 76,081,438 (GRCm38) |
P197L |
probably benign |
Het |
| Kdm4b |
T |
C |
17: 56,396,234 (GRCm38) |
V643A |
probably benign |
Het |
| Lrch2 |
A |
G |
X: 147,553,720 (GRCm38) |
F111L |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,371,766 (GRCm38) |
|
probably benign |
Het |
| Mfsd4b2 |
T |
C |
10: 39,921,691 (GRCm38) |
N223D |
probably damaging |
Het |
| Mug1 |
G |
A |
6: 121,884,690 (GRCm38) |
|
probably null |
Het |
| Nek7 |
A |
T |
1: 138,487,100 (GRCm38) |
L270Q |
probably damaging |
Het |
| Nexn |
T |
A |
3: 152,248,244 (GRCm38) |
D127V |
probably damaging |
Het |
| Nxf3 |
A |
G |
X: 136,079,573 (GRCm38) |
F130S |
probably damaging |
Het |
| Or11a4 |
T |
A |
17: 37,225,166 (GRCm38) |
F14I |
probably damaging |
Het |
| Or52ac1 |
A |
G |
7: 104,596,534 (GRCm38) |
S216P |
probably damaging |
Het |
| Pcdhb16 |
G |
A |
18: 37,478,358 (GRCm38) |
V124I |
possibly damaging |
Het |
| Podxl |
T |
C |
6: 31,524,459 (GRCm38) |
D387G |
possibly damaging |
Het |
| Prp2rt |
T |
A |
13: 97,099,174 (GRCm38) |
T22S |
probably null |
Het |
| Rab3d |
C |
A |
9: 21,915,724 (GRCm38) |
R70M |
probably damaging |
Het |
| Ripk2 |
A |
T |
4: 16,139,240 (GRCm38) |
M219K |
possibly damaging |
Het |
| Rnf146 |
A |
G |
10: 29,347,353 (GRCm38) |
V179A |
probably damaging |
Het |
| Robo1 |
G |
T |
16: 72,989,616 (GRCm38) |
V839L |
probably benign |
Het |
| Rttn |
T |
A |
18: 89,020,205 (GRCm38) |
N808K |
probably damaging |
Het |
| Slc12a3 |
T |
G |
8: 94,348,592 (GRCm38) |
V738G |
probably benign |
Het |
| Slc26a3 |
T |
C |
12: 31,447,831 (GRCm38) |
V78A |
probably damaging |
Het |
| Slc26a9 |
G |
A |
1: 131,764,043 (GRCm38) |
V675M |
probably damaging |
Het |
| Sncb |
T |
A |
13: 54,762,696 (GRCm38) |
I76F |
probably benign |
Het |
| Stat4 |
G |
A |
1: 52,013,870 (GRCm38) |
R70H |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,598,640 (GRCm38) |
M42V |
probably benign |
Het |
| Tmem67 |
T |
C |
4: 12,068,882 (GRCm38) |
T439A |
probably benign |
Het |
| Ugt2b35 |
C |
A |
5: 87,003,282 (GRCm38) |
T249K |
possibly damaging |
Het |
| Vmn1r231 |
C |
T |
17: 20,889,735 (GRCm38) |
R306K |
probably benign |
Het |
| Vmn1r42 |
A |
T |
6: 89,845,041 (GRCm38) |
I182N |
possibly damaging |
Het |
| Zfhx3 |
T |
C |
8: 108,793,883 (GRCm38) |
S546P |
probably damaging |
Het |
| Zic3 |
G |
T |
X: 58,031,539 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Fmnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00424:Fmnl1
|
APN |
11 |
103,197,340 (GRCm38) |
nonsense |
probably null |
|
|
IGL00972:Fmnl1
|
APN |
11 |
103,180,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01406:Fmnl1
|
APN |
11 |
103,194,690 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01417:Fmnl1
|
APN |
11 |
103,196,694 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01599:Fmnl1
|
APN |
11 |
103,186,656 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02324:Fmnl1
|
APN |
11 |
103,179,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02812:Fmnl1
|
APN |
11 |
103,196,766 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03369:Fmnl1
|
APN |
11 |
103,197,182 (GRCm38) |
splice site |
probably null |
|
|
archetypal
|
UTSW |
11 |
103,186,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
contractual
|
UTSW |
11 |
103,180,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
stylistic
|
UTSW |
11 |
103,193,736 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0077:Fmnl1
|
UTSW |
11 |
103,189,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0241:Fmnl1
|
UTSW |
11 |
103,182,170 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0241:Fmnl1
|
UTSW |
11 |
103,182,170 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0413:Fmnl1
|
UTSW |
11 |
103,194,063 (GRCm38) |
splice site |
probably benign |
|
|
R1170:Fmnl1
|
UTSW |
11 |
103,197,370 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1389:Fmnl1
|
UTSW |
11 |
103,186,709 (GRCm38) |
splice site |
probably null |
|
|
R1794:Fmnl1
|
UTSW |
11 |
103,197,147 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2082:Fmnl1
|
UTSW |
11 |
103,192,025 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2105:Fmnl1
|
UTSW |
11 |
103,194,692 (GRCm38) |
missense |
probably benign |
0.39 |
|
R3611:Fmnl1
|
UTSW |
11 |
103,194,765 (GRCm38) |
unclassified |
probably benign |
|
|
R3883:Fmnl1
|
UTSW |
11 |
103,182,114 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3893:Fmnl1
|
UTSW |
11 |
103,196,757 (GRCm38) |
unclassified |
probably benign |
|
|
R4658:Fmnl1
|
UTSW |
11 |
103,197,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4689:Fmnl1
|
UTSW |
11 |
103,193,736 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4812:Fmnl1
|
UTSW |
11 |
103,198,564 (GRCm38) |
unclassified |
probably benign |
|
|
R4996:Fmnl1
|
UTSW |
11 |
103,182,656 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R5646:Fmnl1
|
UTSW |
11 |
103,196,512 (GRCm38) |
unclassified |
probably benign |
|
|
R5702:Fmnl1
|
UTSW |
11 |
103,185,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5850:Fmnl1
|
UTSW |
11 |
103,195,285 (GRCm38) |
unclassified |
probably benign |
|
|
R5903:Fmnl1
|
UTSW |
11 |
103,171,444 (GRCm38) |
splice site |
probably null |
|
|
R6254:Fmnl1
|
UTSW |
11 |
103,196,315 (GRCm38) |
unclassified |
probably benign |
|
|
R6958:Fmnl1
|
UTSW |
11 |
103,171,314 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R7030:Fmnl1
|
UTSW |
11 |
103,194,774 (GRCm38) |
unclassified |
probably benign |
|
|
R7133:Fmnl1
|
UTSW |
11 |
103,181,784 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7171:Fmnl1
|
UTSW |
11 |
103,190,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7224:Fmnl1
|
UTSW |
11 |
103,182,769 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7282:Fmnl1
|
UTSW |
11 |
103,196,265 (GRCm38) |
missense |
unknown |
|
|
R7448:Fmnl1
|
UTSW |
11 |
103,186,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7463:Fmnl1
|
UTSW |
11 |
103,193,128 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7831:Fmnl1
|
UTSW |
11 |
103,198,173 (GRCm38) |
missense |
unknown |
|
|
R7862:Fmnl1
|
UTSW |
11 |
103,180,930 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7973:Fmnl1
|
UTSW |
11 |
103,171,158 (GRCm38) |
start gained |
probably benign |
|
|
R8177:Fmnl1
|
UTSW |
11 |
103,189,959 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8273:Fmnl1
|
UTSW |
11 |
103,186,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8345:Fmnl1
|
UTSW |
11 |
103,186,614 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8507:Fmnl1
|
UTSW |
11 |
103,194,033 (GRCm38) |
missense |
unknown |
|
|
R8921:Fmnl1
|
UTSW |
11 |
103,197,141 (GRCm38) |
missense |
unknown |
|
|
R8946:Fmnl1
|
UTSW |
11 |
103,180,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8968:Fmnl1
|
UTSW |
11 |
103,186,618 (GRCm38) |
small deletion |
probably benign |
|
|
R9114:Fmnl1
|
UTSW |
11 |
103,196,501 (GRCm38) |
missense |
unknown |
|
|
R9696:Fmnl1
|
UTSW |
11 |
103,195,471 (GRCm38) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation