Incidental Mutation 'R3883:Fmnl1'
ID |
308833 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl1
|
Ensembl Gene |
ENSMUSG00000055805 |
Gene Name |
formin-like 1 |
Synonyms |
formin-related gene in leukocytes, 8030453N10Rik |
MMRRC Submission |
040796-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R3883 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
103061933-103089727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103072940 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 144
(N144D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042286]
[ENSMUST00000107027]
[ENSMUST00000218163]
|
AlphaFold |
Q9JL26 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042286
AA Change: N144D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805 AA Change: N144D
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: N144D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805 AA Change: N144D
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 |
probably damaging
Transcript: ENSMUST00000218163
AA Change: N144D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.2475 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
98% (45/46) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
C |
T |
8: 46,980,228 (GRCm39) |
S423L |
probably benign |
Het |
Ankmy1 |
T |
G |
1: 92,813,874 (GRCm39) |
E435A |
probably damaging |
Het |
Ano5 |
T |
A |
7: 51,216,052 (GRCm39) |
M343K |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
C3 |
T |
C |
17: 57,524,173 (GRCm39) |
|
probably null |
Het |
Cdk17 |
T |
C |
10: 93,047,939 (GRCm39) |
|
probably null |
Het |
Cntn2 |
A |
G |
1: 132,456,677 (GRCm39) |
V123A |
probably damaging |
Het |
Cracd |
T |
A |
5: 77,004,421 (GRCm39) |
W261R |
unknown |
Het |
Dchs1 |
A |
G |
7: 105,411,770 (GRCm39) |
Y1449H |
probably damaging |
Het |
Ddx42 |
T |
A |
11: 106,138,518 (GRCm39) |
N772K |
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,942,188 (GRCm39) |
|
probably benign |
Het |
Edn1 |
T |
A |
13: 42,455,382 (GRCm39) |
F4L |
probably benign |
Het |
Epb41l3 |
C |
T |
17: 69,581,111 (GRCm39) |
R552* |
probably null |
Het |
Epc1 |
T |
C |
18: 6,452,258 (GRCm39) |
D267G |
possibly damaging |
Het |
Fbxo22 |
A |
T |
9: 55,130,546 (GRCm39) |
T169S |
probably benign |
Het |
Folh1 |
A |
G |
7: 86,424,864 (GRCm39) |
L35P |
possibly damaging |
Het |
Gm10220 |
A |
C |
5: 26,321,908 (GRCm39) |
S255A |
possibly damaging |
Het |
Gm15446 |
G |
T |
5: 110,088,313 (GRCm39) |
V9L |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,676,200 (GRCm39) |
L1011P |
probably damaging |
Het |
Kif4-ps |
G |
T |
12: 101,112,473 (GRCm39) |
V201L |
probably damaging |
Het |
Klk1b16 |
T |
C |
7: 43,788,887 (GRCm39) |
V40A |
possibly damaging |
Het |
Lgsn |
C |
A |
1: 31,215,540 (GRCm39) |
D3E |
probably benign |
Het |
Mavs |
T |
C |
2: 131,087,218 (GRCm39) |
S239P |
probably benign |
Het |
Mrtfb |
T |
A |
16: 13,219,322 (GRCm39) |
V667D |
probably damaging |
Het |
Mtrf1 |
A |
G |
14: 79,656,707 (GRCm39) |
Y403C |
probably damaging |
Het |
Mycbp2 |
A |
C |
14: 103,532,686 (GRCm39) |
L390V |
probably damaging |
Het |
Neto2 |
A |
G |
8: 86,389,894 (GRCm39) |
S190P |
probably damaging |
Het |
Ngly1 |
A |
G |
14: 16,270,574 (GRCm38) |
I195V |
probably damaging |
Het |
Or10d4c |
A |
G |
9: 39,558,420 (GRCm39) |
I133V |
probably benign |
Het |
Or13p5 |
T |
C |
4: 118,591,882 (GRCm39) |
I52T |
probably benign |
Het |
Pde4dip |
T |
C |
3: 97,620,504 (GRCm39) |
K1632E |
probably damaging |
Het |
Pigk |
T |
C |
3: 152,419,832 (GRCm39) |
S21P |
probably benign |
Het |
Rabggtb |
A |
G |
3: 153,616,417 (GRCm39) |
F82L |
probably damaging |
Het |
Reep6 |
G |
A |
10: 80,171,369 (GRCm39) |
R415Q |
probably benign |
Het |
Serpinb13 |
T |
C |
1: 106,926,302 (GRCm39) |
V159A |
probably benign |
Het |
Slc5a8 |
T |
A |
10: 88,738,325 (GRCm39) |
M196K |
possibly damaging |
Het |
Sprr1a |
G |
A |
3: 92,391,827 (GRCm39) |
P58L |
probably damaging |
Het |
Taf1a |
A |
T |
1: 183,172,288 (GRCm39) |
T10S |
possibly damaging |
Het |
Tap1 |
T |
A |
17: 34,412,232 (GRCm39) |
V479E |
probably damaging |
Het |
Trpm4 |
C |
T |
7: 44,971,422 (GRCm39) |
|
probably null |
Het |
Ush2a |
T |
C |
1: 187,995,579 (GRCm39) |
Y117H |
probably benign |
Het |
Vmn2r58 |
A |
T |
7: 41,513,914 (GRCm39) |
L243* |
probably null |
Het |
Zbtb32 |
A |
G |
7: 30,290,569 (GRCm39) |
I242T |
probably benign |
Het |
Zbtb7a |
T |
C |
10: 80,983,859 (GRCm39) |
C434R |
probably damaging |
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 |
|
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 |
R7463:Fmnl1
|
UTSW |
11 |
103,083,954 (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'- TGGATTTCCATACACAGCTGG -3'
(R):5'- AGAGCCAAGTCCAGCTTTCC -3'
Sequencing Primer
(F):5'- TGCTCAGGCCCTCAGCATC -3'
(R):5'- CAGCTTTCCTGGGATGGG -3'
|
Posted On |
2015-04-17 |