Incidental Mutation 'R7463:Fmnl1'
ID |
578576 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl1
|
Ensembl Gene |
ENSMUSG00000055805 |
Gene Name |
formin-like 1 |
Synonyms |
formin-related gene in leukocytes, 8030453N10Rik |
MMRRC Submission |
045537-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R7463 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
103061933-103089727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103083954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 503
(L503P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042286]
[ENSMUST00000107027]
[ENSMUST00000129726]
[ENSMUST00000218163]
|
AlphaFold |
Q9JL26 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042286
AA Change: L503P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805 AA Change: L503P
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 damaging
Transcript: ENSMUST00000107027
AA Change: L503P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805 AA Change: L503P
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 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 |
probably damaging
Transcript: ENSMUST00000218163
AA Change: L509P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.0793 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.7%
|
Validation Efficiency |
100% (62/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
T |
17: 46,634,698 (GRCm39) |
V435E |
probably damaging |
Het |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
Adcy2 |
T |
C |
13: 68,878,399 (GRCm39) |
D413G |
probably damaging |
Het |
Adgrg6 |
T |
A |
10: 14,310,140 (GRCm39) |
D727V |
possibly damaging |
Het |
Aebp2 |
C |
T |
6: 140,583,452 (GRCm39) |
Q309* |
probably null |
Het |
Amy1 |
A |
T |
3: 113,363,533 (GRCm39) |
C43* |
probably null |
Het |
Bpifc |
T |
C |
10: 85,815,198 (GRCm39) |
E256G |
probably benign |
Het |
Bysl |
A |
T |
17: 47,913,396 (GRCm39) |
S296T |
probably benign |
Het |
Carmil3 |
C |
T |
14: 55,739,853 (GRCm39) |
P980L |
probably damaging |
Het |
Coch |
T |
A |
12: 51,640,408 (GRCm39) |
M1K |
probably null |
Het |
Cpt2 |
A |
T |
4: 107,765,354 (GRCm39) |
F137I |
probably damaging |
Het |
Crem |
T |
C |
18: 3,295,094 (GRCm39) |
I112V |
probably benign |
Het |
Cul9 |
A |
G |
17: 46,831,402 (GRCm39) |
|
probably null |
Het |
Cyp3a41a |
T |
A |
5: 145,650,374 (GRCm39) |
I90F |
probably damaging |
Het |
Cyp4f16 |
C |
T |
17: 32,769,761 (GRCm39) |
A457V |
possibly damaging |
Het |
Ddx6 |
A |
G |
9: 44,540,026 (GRCm39) |
E318G |
probably damaging |
Het |
Dip2b |
A |
G |
15: 100,052,038 (GRCm39) |
E213G |
probably benign |
Het |
Dlx5 |
T |
C |
6: 6,878,316 (GRCm39) |
H238R |
probably damaging |
Het |
Dnai2 |
A |
C |
11: 114,645,232 (GRCm39) |
I556L |
probably benign |
Het |
Dnmt1 |
C |
T |
9: 20,823,521 (GRCm39) |
V1147M |
possibly damaging |
Het |
Egf |
G |
T |
3: 129,533,664 (GRCm39) |
Q59K |
probably benign |
Het |
Ermp1 |
A |
T |
19: 29,623,662 (GRCm39) |
Y109* |
probably null |
Het |
Fer1l6 |
T |
A |
15: 58,445,450 (GRCm39) |
Y573* |
probably null |
Het |
Gnptab |
T |
G |
10: 88,267,251 (GRCm39) |
I447M |
probably damaging |
Het |
Hgf |
G |
A |
5: 16,783,448 (GRCm39) |
D253N |
probably benign |
Het |
Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
Igf2r |
T |
C |
17: 12,929,532 (GRCm39) |
T958A |
probably benign |
Het |
Kcnd2 |
T |
A |
6: 21,216,497 (GRCm39) |
L67Q |
probably damaging |
Het |
Kif5a |
A |
G |
10: 127,079,593 (GRCm39) |
V248A |
probably damaging |
Het |
Krt33b |
A |
G |
11: 99,920,389 (GRCm39) |
I88T |
probably damaging |
Het |
Lhx2 |
G |
A |
2: 38,241,858 (GRCm39) |
E25K |
possibly damaging |
Het |
Mex3d |
C |
T |
10: 80,217,532 (GRCm39) |
G562R |
|
Het |
Myom2 |
A |
T |
8: 15,167,679 (GRCm39) |
Y1088F |
probably null |
Het |
Ncapg |
T |
A |
5: 45,851,434 (GRCm39) |
|
probably null |
Het |
Nudc |
A |
C |
4: 133,261,714 (GRCm39) |
V190G |
possibly damaging |
Het |
Obscn |
G |
T |
11: 59,013,686 (GRCm39) |
R1054S |
probably benign |
Het |
Or10g1 |
A |
G |
14: 52,648,168 (GRCm39) |
W54R |
probably benign |
Het |
Or10g9 |
A |
G |
9: 39,911,860 (GRCm39) |
V221A |
probably benign |
Het |
Or2d4 |
A |
T |
7: 106,543,380 (GRCm39) |
V276E |
probably damaging |
Het |
Or52h9 |
T |
C |
7: 104,202,689 (GRCm39) |
S188P |
possibly damaging |
Het |
Or56a5 |
T |
A |
7: 104,793,144 (GRCm39) |
M119L |
probably benign |
Het |
Or8j3 |
T |
C |
2: 86,028,182 (GRCm39) |
M305V |
probably benign |
Het |
Pcdh10 |
A |
T |
3: 45,338,007 (GRCm39) |
R891S |
possibly damaging |
Het |
Pcdh15 |
C |
T |
10: 74,467,602 (GRCm39) |
S1873L |
possibly damaging |
Het |
Pcdh7 |
A |
G |
5: 57,878,340 (GRCm39) |
K632E |
probably benign |
Het |
Pcdhgb8 |
G |
A |
18: 37,896,480 (GRCm39) |
A517T |
probably damaging |
Het |
Ptgr2 |
A |
T |
12: 84,339,072 (GRCm39) |
|
probably benign |
Het |
Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
Racgap1 |
T |
A |
15: 99,540,839 (GRCm39) |
T4S |
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,319,404 (GRCm39) |
H941R |
probably benign |
Het |
Reln |
T |
C |
5: 22,308,433 (GRCm39) |
H312R |
probably damaging |
Het |
Rnf166 |
T |
A |
8: 123,194,726 (GRCm39) |
H208L |
probably damaging |
Het |
Spmap2 |
T |
C |
10: 79,412,549 (GRCm39) |
E314G |
probably damaging |
Het |
Timeless |
T |
C |
10: 128,086,295 (GRCm39) |
S999P |
probably benign |
Het |
Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
Tor1aip1 |
A |
T |
1: 155,883,355 (GRCm39) |
H349Q |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,750,804 (GRCm39) |
E3415V |
probably benign |
Het |
Vmn2r102 |
A |
T |
17: 19,896,886 (GRCm39) |
N78Y |
probably damaging |
Het |
Wdr11 |
A |
T |
7: 129,208,810 (GRCm39) |
D427V |
probably damaging |
Het |
Zer1 |
A |
T |
2: 30,003,449 (GRCm39) |
|
probably benign |
Het |
Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
Het |
|
Other mutations in Fmnl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00424:Fmnl1
|
APN |
11 |
103,088,166 (GRCm39) |
nonsense |
probably null |
|
IGL00972:Fmnl1
|
APN |
11 |
103,071,781 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01406:Fmnl1
|
APN |
11 |
103,085,516 (GRCm39) |
unclassified |
probably benign |
|
IGL01417:Fmnl1
|
APN |
11 |
103,087,520 (GRCm39) |
unclassified |
probably benign |
|
IGL01599:Fmnl1
|
APN |
11 |
103,077,482 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02151:Fmnl1
|
APN |
11 |
103,083,598 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02324:Fmnl1
|
APN |
11 |
103,070,364 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Fmnl1
|
APN |
11 |
103,087,592 (GRCm39) |
unclassified |
probably benign |
|
IGL03369:Fmnl1
|
APN |
11 |
103,088,008 (GRCm39) |
splice site |
probably null |
|
archetypal
|
UTSW |
11 |
103,077,453 (GRCm39) |
missense |
probably damaging |
1.00 |
contractual
|
UTSW |
11 |
103,071,741 (GRCm39) |
missense |
probably damaging |
1.00 |
stylistic
|
UTSW |
11 |
103,084,562 (GRCm39) |
critical splice donor site |
probably null |
|
R0077:Fmnl1
|
UTSW |
11 |
103,080,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R0241:Fmnl1
|
UTSW |
11 |
103,072,996 (GRCm39) |
critical splice donor site |
probably null |
|
R0241:Fmnl1
|
UTSW |
11 |
103,072,996 (GRCm39) |
critical splice donor site |
probably null |
|
R0413:Fmnl1
|
UTSW |
11 |
103,084,889 (GRCm39) |
splice site |
probably benign |
|
R1170:Fmnl1
|
UTSW |
11 |
103,088,196 (GRCm39) |
missense |
probably benign |
0.02 |
R1389:Fmnl1
|
UTSW |
11 |
103,077,535 (GRCm39) |
splice site |
probably null |
|
R1794:Fmnl1
|
UTSW |
11 |
103,087,973 (GRCm39) |
missense |
probably benign |
0.00 |
R2082:Fmnl1
|
UTSW |
11 |
103,082,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R2105:Fmnl1
|
UTSW |
11 |
103,085,518 (GRCm39) |
missense |
probably benign |
0.39 |
R3611:Fmnl1
|
UTSW |
11 |
103,085,591 (GRCm39) |
unclassified |
probably benign |
|
R3883:Fmnl1
|
UTSW |
11 |
103,072,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R3893:Fmnl1
|
UTSW |
11 |
103,087,583 (GRCm39) |
unclassified |
probably benign |
|
R4658:Fmnl1
|
UTSW |
11 |
103,088,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R4689:Fmnl1
|
UTSW |
11 |
103,084,562 (GRCm39) |
critical splice donor site |
probably null |
|
R4812:Fmnl1
|
UTSW |
11 |
103,089,390 (GRCm39) |
unclassified |
probably benign |
|
R4996:Fmnl1
|
UTSW |
11 |
103,073,482 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5646:Fmnl1
|
UTSW |
11 |
103,087,338 (GRCm39) |
unclassified |
probably benign |
|
R5702:Fmnl1
|
UTSW |
11 |
103,076,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R5850:Fmnl1
|
UTSW |
11 |
103,086,111 (GRCm39) |
unclassified |
probably benign |
|
R5903:Fmnl1
|
UTSW |
11 |
103,062,270 (GRCm39) |
splice site |
probably null |
|
R6254:Fmnl1
|
UTSW |
11 |
103,087,141 (GRCm39) |
unclassified |
probably benign |
|
R6958:Fmnl1
|
UTSW |
11 |
103,062,140 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R7030:Fmnl1
|
UTSW |
11 |
103,085,600 (GRCm39) |
unclassified |
probably benign |
|
R7133:Fmnl1
|
UTSW |
11 |
103,072,610 (GRCm39) |
critical splice donor site |
probably null |
|
R7171:Fmnl1
|
UTSW |
11 |
103,081,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R7224:Fmnl1
|
UTSW |
11 |
103,073,595 (GRCm39) |
critical splice donor site |
probably null |
|
R7282:Fmnl1
|
UTSW |
11 |
103,087,091 (GRCm39) |
missense |
unknown |
|
R7448:Fmnl1
|
UTSW |
11 |
103,077,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R7831:Fmnl1
|
UTSW |
11 |
103,088,999 (GRCm39) |
missense |
unknown |
|
R7862:Fmnl1
|
UTSW |
11 |
103,071,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R7973:Fmnl1
|
UTSW |
11 |
103,061,984 (GRCm39) |
start gained |
probably benign |
|
R8177:Fmnl1
|
UTSW |
11 |
103,080,785 (GRCm39) |
missense |
probably damaging |
0.98 |
R8273:Fmnl1
|
UTSW |
11 |
103,077,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R8345:Fmnl1
|
UTSW |
11 |
103,077,440 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8507:Fmnl1
|
UTSW |
11 |
103,084,859 (GRCm39) |
missense |
unknown |
|
R8921:Fmnl1
|
UTSW |
11 |
103,087,967 (GRCm39) |
missense |
unknown |
|
R8946:Fmnl1
|
UTSW |
11 |
103,071,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R8968:Fmnl1
|
UTSW |
11 |
103,077,444 (GRCm39) |
small deletion |
probably benign |
|
R9114:Fmnl1
|
UTSW |
11 |
103,087,327 (GRCm39) |
missense |
unknown |
|
R9696:Fmnl1
|
UTSW |
11 |
103,086,297 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGAGCTTTCAAGTGGGCAC -3'
(R):5'- ACAGCTAGGTCTATCCCCAG -3'
Sequencing Primer
(F):5'- GAGCTTTCAAGTGGGCACTAATCC -3'
(R):5'- GCTAGGTCTATCCCCAGGATAC -3'
|
Posted On |
2019-10-07 |