Incidental Mutation 'IGL02324:Fmnl1'
ID |
288370 |
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: 0.144)
|
Stock # |
IGL02324
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
103061933-103089727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103070364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 51
(D51G)
|
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: D51G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805 AA Change: D51G
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: D51G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805 AA Change: D51G
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 |
probably damaging
Transcript: ENSMUST00000218163
AA Change: D51G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
A |
3: 151,203,511 (GRCm39) |
C124S |
probably damaging |
Het |
Aldh1a7 |
T |
C |
19: 20,704,368 (GRCm39) |
N42S |
probably damaging |
Het |
Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
C1qb |
C |
A |
4: 136,607,811 (GRCm39) |
R184L |
possibly damaging |
Het |
Cacna1s |
A |
G |
1: 136,002,914 (GRCm39) |
|
probably benign |
Het |
Cdk20 |
A |
G |
13: 64,585,734 (GRCm39) |
E244G |
probably benign |
Het |
Copg2 |
C |
A |
6: 30,840,469 (GRCm39) |
|
probably null |
Het |
Cyp2d40 |
A |
T |
15: 82,645,149 (GRCm39) |
|
probably benign |
Het |
Cyp2j6 |
A |
G |
4: 96,414,170 (GRCm39) |
I365T |
probably damaging |
Het |
Dhx29 |
A |
G |
13: 113,064,342 (GRCm39) |
K6E |
probably damaging |
Het |
Dpp10 |
T |
A |
1: 123,295,531 (GRCm39) |
T539S |
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,046,048 (GRCm39) |
I542K |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,493,593 (GRCm39) |
Y3913C |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,536,822 (GRCm39) |
T1264I |
probably benign |
Het |
Gm17093 |
A |
G |
14: 44,755,807 (GRCm39) |
T25A |
unknown |
Het |
Gpatch2 |
A |
G |
1: 186,957,936 (GRCm39) |
E97G |
probably damaging |
Het |
Hcn1 |
T |
C |
13: 118,039,422 (GRCm39) |
L446P |
unknown |
Het |
Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
Krtap16-1 |
C |
T |
11: 99,877,129 (GRCm39) |
V92M |
probably damaging |
Het |
Med23 |
A |
T |
10: 24,773,239 (GRCm39) |
Q281L |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,039,873 (GRCm39) |
S963P |
probably benign |
Het |
Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,479,643 (GRCm39) |
S1217P |
probably damaging |
Het |
Myocd |
C |
A |
11: 65,069,484 (GRCm39) |
L785F |
probably benign |
Het |
Nell2 |
T |
C |
15: 95,126,982 (GRCm39) |
T798A |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,092,808 (GRCm39) |
|
probably benign |
Het |
Olfm5 |
T |
C |
7: 103,803,302 (GRCm39) |
|
probably null |
Het |
Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
P2ry1 |
A |
T |
3: 60,911,199 (GRCm39) |
N113Y |
possibly damaging |
Het |
Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
Pappa |
A |
G |
4: 65,115,045 (GRCm39) |
R714G |
probably damaging |
Het |
Plcd1 |
A |
G |
9: 118,901,710 (GRCm39) |
F579L |
probably damaging |
Het |
Ptprb |
T |
C |
10: 116,155,238 (GRCm39) |
V664A |
probably benign |
Het |
Slc27a5 |
T |
A |
7: 12,731,487 (GRCm39) |
Q168L |
probably benign |
Het |
Spag8 |
T |
C |
4: 43,651,781 (GRCm39) |
E395G |
probably damaging |
Het |
Stfa2l1 |
T |
C |
16: 35,982,138 (GRCm39) |
Y70H |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
Tnfrsf25 |
C |
A |
4: 152,203,779 (GRCm39) |
Q296K |
probably damaging |
Het |
Trpm3 |
T |
A |
19: 22,676,143 (GRCm39) |
I103N |
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 |
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 |
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 |
2015-04-16 |