Incidental Mutation 'IGL03369:Fmnl1'
ID |
420245 |
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: 0.139)
|
Stock # |
IGL03369
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
103061933-103089727 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to G
at 103088008 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021323]
[ENSMUST00000042286]
[ENSMUST00000107026]
[ENSMUST00000107027]
[ENSMUST00000129726]
[ENSMUST00000218163]
[ENSMUST00000172850]
[ENSMUST00000174567]
|
AlphaFold |
Q9JL26 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000021322
|
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 |
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 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 |
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: 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: ENSMUST00000140559
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174079
|
Predicted Effect |
probably null
Transcript: ENSMUST00000218163
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172850
|
SMART Domains |
Protein: ENSMUSP00000139837 Gene: ENSMUSG00000020940
Domain | Start | End | E-Value | Type |
EFh
|
109 |
137 |
3.5e-1 |
SMART |
EFh
|
145 |
173 |
3.2e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174567
|
SMART Domains |
Protein: ENSMUSP00000134292 Gene: ENSMUSG00000020940
Domain | Start | End | E-Value | Type |
SCOP:d1mr8a_
|
153 |
209 |
5e-8 |
SMART |
Blast:EFh
|
159 |
187 |
4e-12 |
BLAST |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
T |
C |
6: 124,333,380 (GRCm39) |
N72S |
possibly damaging |
Het |
A2m |
G |
A |
6: 121,653,862 (GRCm39) |
|
probably null |
Het |
Angptl3 |
A |
T |
4: 98,923,057 (GRCm39) |
|
probably benign |
Het |
Aox4 |
A |
G |
1: 58,301,746 (GRCm39) |
D1106G |
probably benign |
Het |
Capn13 |
G |
A |
17: 73,648,149 (GRCm39) |
|
probably benign |
Het |
Cep250 |
A |
G |
2: 155,832,191 (GRCm39) |
H1371R |
probably benign |
Het |
Chrna1 |
A |
T |
2: 73,400,789 (GRCm39) |
F247Y |
probably benign |
Het |
Col2a1 |
T |
C |
15: 97,879,923 (GRCm39) |
T813A |
unknown |
Het |
Dab2 |
T |
C |
15: 6,464,790 (GRCm39) |
V414A |
possibly damaging |
Het |
Dach2 |
T |
C |
X: 112,465,937 (GRCm39) |
|
probably benign |
Het |
Fap |
A |
G |
2: 62,333,699 (GRCm39) |
|
probably benign |
Het |
Fgd5 |
T |
A |
6: 91,965,396 (GRCm39) |
V385D |
probably damaging |
Het |
Gorasp2 |
G |
A |
2: 70,513,336 (GRCm39) |
G201D |
probably damaging |
Het |
Gp2 |
T |
A |
7: 119,050,783 (GRCm39) |
Q316L |
probably damaging |
Het |
Gpx8 |
T |
C |
13: 113,179,696 (GRCm39) |
I202V |
probably damaging |
Het |
Gsta3 |
A |
G |
1: 21,335,173 (GRCm39) |
K218R |
probably benign |
Het |
Lama3 |
C |
T |
18: 12,686,340 (GRCm39) |
T1195I |
probably benign |
Het |
Map3k12 |
T |
C |
15: 102,410,514 (GRCm39) |
R488G |
possibly damaging |
Het |
Mapt |
A |
T |
11: 104,173,259 (GRCm39) |
Y18F |
probably damaging |
Het |
Med21 |
T |
C |
6: 146,544,143 (GRCm39) |
V12A |
probably benign |
Het |
Mgat4b |
A |
G |
11: 50,124,936 (GRCm39) |
E457G |
possibly damaging |
Het |
Mybl1 |
T |
A |
1: 9,742,780 (GRCm39) |
K609N |
probably damaging |
Het |
Ncaph2 |
T |
G |
15: 89,247,858 (GRCm39) |
V75G |
probably benign |
Het |
Neb |
A |
G |
2: 52,068,049 (GRCm39) |
Y5795H |
probably benign |
Het |
Nup153 |
A |
G |
13: 46,854,459 (GRCm39) |
|
probably null |
Het |
Or6c215 |
T |
C |
10: 129,638,340 (GRCm39) |
D18G |
probably damaging |
Het |
Or6y1 |
T |
A |
1: 174,276,435 (GRCm39) |
I82N |
probably damaging |
Het |
Plekhf2 |
G |
T |
4: 10,990,703 (GRCm39) |
T213K |
probably benign |
Het |
Plekho2 |
C |
A |
9: 65,466,776 (GRCm39) |
G105W |
probably damaging |
Het |
Polr3b |
G |
A |
10: 84,512,816 (GRCm39) |
G566D |
probably damaging |
Het |
Rasgrf1 |
T |
C |
9: 89,892,504 (GRCm39) |
I1068T |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,312,294 (GRCm39) |
E907V |
probably benign |
Het |
Runx1t1 |
C |
T |
4: 13,881,107 (GRCm39) |
S469F |
probably damaging |
Het |
Spata31e4 |
G |
T |
13: 50,857,200 (GRCm39) |
C946F |
possibly damaging |
Het |
Top1 |
A |
T |
2: 160,535,647 (GRCm39) |
D182V |
unknown |
Het |
Uckl1 |
T |
C |
2: 181,211,982 (GRCm39) |
T375A |
probably benign |
Het |
Usp53 |
A |
T |
3: 122,727,370 (GRCm39) |
|
probably benign |
Het |
Vmn2r61 |
T |
A |
7: 41,909,517 (GRCm39) |
I14N |
probably benign |
Het |
Wbp4 |
A |
T |
14: 79,707,558 (GRCm39) |
N184K |
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 |
|
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 |
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 |
|
|
Posted On |
2016-08-02 |