Incidental Mutation 'R8507:Fmnl1'
ID |
655655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl1
|
Ensembl Gene |
ENSMUSG00000055805 |
Gene Name |
formin-like 1 |
Synonyms |
formin-related gene in leukocytes, 8030453N10Rik |
MMRRC Submission |
067843-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R8507 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
103061933-103089727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103084859 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 659
(N659I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021323]
[ENSMUST00000042286]
[ENSMUST00000107026]
[ENSMUST00000107027]
[ENSMUST00000129726]
[ENSMUST00000218163]
|
AlphaFold |
Q9JL26 |
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 |
unknown
Transcript: ENSMUST00000042286
AA Change: N659I
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805 AA Change: N659I
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 |
unknown
Transcript: ENSMUST00000107027
AA Change: N659I
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805 AA Change: N659I
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 |
unknown
Transcript: ENSMUST00000218163
AA Change: N665I
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam7 |
A |
G |
14: 68,763,773 (GRCm39) |
C126R |
probably damaging |
Het |
Agpat5 |
G |
A |
8: 18,928,043 (GRCm39) |
V203I |
possibly damaging |
Het |
Ankrd12 |
T |
A |
17: 66,293,904 (GRCm39) |
R510* |
probably null |
Het |
Anxa6 |
C |
T |
11: 54,904,696 (GRCm39) |
A22T |
probably benign |
Het |
Barx2 |
A |
T |
9: 31,770,309 (GRCm39) |
L73Q |
probably damaging |
Het |
BC024139 |
T |
C |
15: 76,004,333 (GRCm39) |
K702R |
possibly damaging |
Het |
Cc2d1a |
T |
C |
8: 84,861,605 (GRCm39) |
K739R |
probably benign |
Het |
Cdk12 |
A |
G |
11: 98,141,111 (GRCm39) |
T1451A |
unknown |
Het |
Chd7 |
A |
G |
4: 8,858,675 (GRCm39) |
E2367G |
probably damaging |
Het |
Cp |
A |
G |
3: 20,025,193 (GRCm39) |
Y384C |
probably damaging |
Het |
Dnah14 |
T |
A |
1: 181,468,979 (GRCm39) |
W1270R |
probably benign |
Het |
Dyrk2 |
G |
T |
10: 118,696,567 (GRCm39) |
S230R |
probably damaging |
Het |
Epn3 |
A |
T |
11: 94,384,602 (GRCm39) |
S290R |
probably damaging |
Het |
Fas |
C |
T |
19: 34,304,626 (GRCm39) |
R296C |
probably benign |
Het |
Gas8 |
T |
C |
8: 124,257,777 (GRCm39) |
|
probably null |
Het |
Gpr156 |
A |
G |
16: 37,768,598 (GRCm39) |
T40A |
probably benign |
Het |
Hey1 |
G |
C |
3: 8,729,836 (GRCm39) |
A207G |
probably benign |
Het |
Htr3b |
C |
A |
9: 48,876,177 (GRCm39) |
|
probably benign |
Het |
Itgal |
C |
T |
7: 126,928,607 (GRCm39) |
T1044I |
probably benign |
Het |
Itprid2 |
A |
G |
2: 79,475,208 (GRCm39) |
Q389R |
probably benign |
Het |
Kcnip4 |
T |
G |
5: 48,639,997 (GRCm39) |
D38A |
possibly damaging |
Het |
Kcnma1 |
G |
T |
14: 23,641,706 (GRCm39) |
Q216K |
probably benign |
Het |
Kdsr |
T |
A |
1: 106,671,400 (GRCm39) |
E203V |
probably null |
Het |
Lrp1b |
T |
C |
2: 41,298,387 (GRCm39) |
E999G |
|
Het |
Malt1 |
T |
A |
18: 65,603,594 (GRCm39) |
W577R |
probably damaging |
Het |
Mroh2b |
A |
C |
15: 4,978,572 (GRCm39) |
T1373P |
probably damaging |
Het |
Mymk |
A |
G |
2: 26,952,712 (GRCm39) |
|
probably null |
Het |
Myo1f |
T |
A |
17: 33,816,992 (GRCm39) |
H707Q |
probably benign |
Het |
Ncam2 |
C |
A |
16: 81,309,867 (GRCm39) |
H452Q |
possibly damaging |
Het |
Ndrg4 |
A |
G |
8: 96,404,975 (GRCm39) |
M1V |
probably null |
Het |
Nps |
C |
T |
7: 134,874,079 (GRCm39) |
S83L |
probably damaging |
Het |
Nup155 |
T |
A |
15: 8,177,044 (GRCm39) |
Y1040* |
probably null |
Het |
Or1j15 |
T |
C |
2: 36,459,443 (GRCm39) |
Y278H |
probably damaging |
Het |
Or2ak4 |
C |
T |
11: 58,648,985 (GRCm39) |
Q165* |
probably null |
Het |
Or4f7 |
T |
C |
2: 111,645,051 (GRCm39) |
T7A |
probably benign |
Het |
Or5h22 |
C |
T |
16: 58,895,243 (GRCm39) |
V67M |
possibly damaging |
Het |
Pak1ip1 |
G |
A |
13: 41,162,770 (GRCm39) |
R191Q |
probably benign |
Het |
Pcdh17 |
G |
A |
14: 84,683,384 (GRCm39) |
|
probably benign |
Het |
Pcdhgc5 |
G |
T |
18: 37,952,945 (GRCm39) |
R73L |
probably benign |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
Plxnd1 |
A |
T |
6: 115,943,866 (GRCm39) |
N1144K |
probably damaging |
Het |
Ppp1r1b |
G |
T |
11: 98,246,310 (GRCm39) |
E133D |
probably damaging |
Het |
Ptpn13 |
A |
G |
5: 103,705,815 (GRCm39) |
E1396G |
probably damaging |
Het |
Reps1 |
T |
C |
10: 17,970,218 (GRCm39) |
S272P |
probably damaging |
Het |
Ric8b |
T |
C |
10: 84,816,039 (GRCm39) |
V430A |
probably damaging |
Het |
Septin10 |
A |
T |
10: 59,012,825 (GRCm39) |
N264K |
possibly damaging |
Het |
Sgms1 |
A |
T |
19: 32,137,109 (GRCm39) |
F152L |
probably benign |
Het |
Snapc1 |
C |
A |
12: 74,011,506 (GRCm39) |
F57L |
probably damaging |
Het |
Spidr |
A |
G |
16: 15,786,540 (GRCm39) |
L401P |
probably damaging |
Het |
Spn |
C |
T |
7: 126,735,728 (GRCm39) |
V260M |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,916,596 (GRCm39) |
A2095T |
probably damaging |
Het |
Tbc1d15 |
A |
G |
10: 115,038,407 (GRCm39) |
|
probably null |
Het |
Thsd7b |
T |
A |
1: 129,605,790 (GRCm39) |
F510L |
probably benign |
Het |
Trpm5 |
T |
A |
7: 142,632,050 (GRCm39) |
I920F |
probably damaging |
Het |
Tspear |
C |
A |
10: 77,710,898 (GRCm39) |
H507N |
probably benign |
Het |
Vmn2r108 |
T |
A |
17: 20,683,195 (GRCm39) |
K670* |
probably null |
Het |
Vmn2r75 |
A |
T |
7: 85,797,685 (GRCm39) |
C709* |
probably null |
Het |
Wdfy3 |
G |
T |
5: 102,020,767 (GRCm39) |
S2494R |
probably benign |
Het |
Zfp456 |
A |
T |
13: 67,515,108 (GRCm39) |
F199L |
probably damaging |
Het |
Zfp830 |
A |
G |
11: 82,655,529 (GRCm39) |
Q111R |
probably benign |
Het |
Znrf1 |
G |
A |
8: 112,263,842 (GRCm39) |
A24T |
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 |
|
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 |
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 |
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'- ACCCTCTCCACTGAAGAGTC -3'
(R):5'- GATACTGCCTTCTCCTGTCAAG -3'
Sequencing Primer
(F):5'- CCACTGAAGAGTCTCTATTGCC -3'
(R):5'- TCAAGGCTTGGAGTCTAGCTAAC -3'
|
Posted On |
2020-10-20 |