Incidental Mutation 'R1389:Fmnl1'
| ID |
162549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmnl1
|
| Ensembl Gene |
ENSMUSG00000055805 |
| Gene Name |
formin-like 1 |
| Synonyms |
formin-related gene in leukocytes, 8030453N10Rik |
| MMRRC Submission |
039451-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R1389 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
103171107-103198901 bp(+) (GRCm38) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 103186709 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042286]
[ENSMUST00000042286]
[ENSMUST00000107027]
[ENSMUST00000107027]
[ENSMUST00000218163]
[ENSMUST00000218163]
|
| AlphaFold |
Q9JL26 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042286
|
| SMART Domains |
Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
| 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 null
Transcript: ENSMUST00000042286
|
| SMART Domains |
Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
| 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 null
Transcript: ENSMUST00000107027
|
| SMART Domains |
Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
| 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: ENSMUST00000107027
|
| SMART Domains |
Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
| 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 |
noncoding transcript
Transcript: ENSMUST00000154871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174079
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218163
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218163
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.6%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
C |
1: 78,688,282 (GRCm38) |
I142L |
probably benign |
Het |
| Adgra2 |
C |
T |
8: 27,111,088 (GRCm38) |
P252L |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,139,520 (GRCm38) |
E1239G |
probably benign |
Het |
| Arhgef17 |
TGGAGGAGGAGGAGGAGG |
TGGAGGAGGAGGAGG |
7: 100,931,037 (GRCm38) |
|
probably benign |
Het |
| Btbd11 |
A |
G |
10: 85,640,596 (GRCm38) |
T914A |
possibly damaging |
Het |
| Calml4 |
A |
T |
9: 62,871,266 (GRCm38) |
D12V |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm38) |
|
probably null |
Het |
| Ccar2 |
C |
A |
14: 70,140,109 (GRCm38) |
V699L |
possibly damaging |
Het |
| Ccdc27 |
T |
C |
4: 154,041,769 (GRCm38) |
M88V |
unknown |
Het |
| Ceacam15 |
T |
C |
7: 16,672,063 (GRCm38) |
R188G |
probably damaging |
Het |
| Dcaf8 |
G |
A |
1: 172,174,052 (GRCm38) |
R272H |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,755,571 (GRCm38) |
V2588A |
probably benign |
Het |
| Dst |
G |
A |
1: 34,211,232 (GRCm38) |
R1749H |
probably damaging |
Het |
| Exog |
A |
G |
9: 119,462,506 (GRCm38) |
Q283R |
probably benign |
Het |
| Gramd1c |
T |
C |
16: 43,990,722 (GRCm38) |
D213G |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,759,756 (GRCm38) |
|
probably null |
Het |
| Itgae |
A |
G |
11: 73,125,362 (GRCm38) |
Y799C |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,988,803 (GRCm38) |
I903V |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 192,505,763 (GRCm38) |
E844G |
probably benign |
Het |
| Khdc1a |
A |
T |
1: 21,350,027 (GRCm38) |
D3V |
probably damaging |
Het |
| Ly6g |
T |
C |
15: 75,156,766 (GRCm38) |
F25S |
probably benign |
Het |
| Mapk1ip1 |
G |
A |
7: 138,836,727 (GRCm38) |
|
probably benign |
Het |
| Mfsd3 |
A |
G |
15: 76,702,689 (GRCm38) |
H243R |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,591,076 (GRCm38) |
Y1016N |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 48,168,330 (GRCm38) |
V219E |
probably damaging |
Het |
| Nars2 |
G |
A |
7: 97,002,829 (GRCm38) |
S209N |
probably benign |
Het |
| Nckap5 |
T |
C |
1: 126,026,710 (GRCm38) |
T702A |
probably damaging |
Het |
| Olfr385 |
T |
C |
11: 73,589,543 (GRCm38) |
N65S |
possibly damaging |
Het |
| Paf1 |
A |
G |
7: 28,398,832 (GRCm38) |
|
probably benign |
Het |
| Prl3d1 |
A |
T |
13: 27,098,710 (GRCm38) |
R145* |
probably null |
Het |
| Rasl10b |
G |
A |
11: 83,417,839 (GRCm38) |
|
probably null |
Het |
| Rnf13 |
T |
A |
3: 57,779,496 (GRCm38) |
N103K |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 98,075,853 (GRCm38) |
S170G |
probably benign |
Het |
| Slc46a2 |
A |
G |
4: 59,914,620 (GRCm38) |
L101P |
probably damaging |
Het |
| Tmem123 |
C |
T |
9: 7,791,106 (GRCm38) |
T136M |
probably damaging |
Het |
| Tpo |
T |
A |
12: 30,103,110 (GRCm38) |
H415L |
probably damaging |
Het |
| Vipr2 |
A |
G |
12: 116,137,330 (GRCm38) |
I255V |
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,633,803 (GRCm38) |
V310E |
probably damaging |
Het |
| Zfp3 |
T |
A |
11: 70,772,636 (GRCm38) |
C474S |
probably damaging |
Het |
| Zfp707 |
T |
A |
15: 75,974,616 (GRCm38) |
C99S |
probably damaging |
Het |
| Zranb1 |
C |
T |
7: 132,971,333 (GRCm38) |
P410S |
probably damaging |
Het |
| Zswim8 |
G |
T |
14: 20,710,748 (GRCm38) |
R30L |
probably damaging |
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 |
|
IGL02151:Fmnl1
|
APN |
11 |
103,192,772 (GRCm38) |
missense |
probably benign |
0.38 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTGTTATGAACCACCCAGCC -3'
(R):5'- ACCATGTCACTATGCAGGAACCTCC -3'
Sequencing Primer
(F):5'- TGTCAATGAGATCGCTCTAAGCC -3'
(R):5'- ttatggtgggggggggg -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation