Incidental Mutation 'IGL01599:Fmnl1'
ID |
92034 |
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 # |
IGL01599
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
103061933-103089727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 103077482 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 287
(V287M)
|
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: V281M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805 AA Change: V281M
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: V281M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805 AA Change: V281M
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 |
noncoding transcript
Transcript: ENSMUST00000174079
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218163
AA Change: V287M
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr3 |
T |
C |
1: 90,141,856 (GRCm39) |
V105A |
probably benign |
Het |
Acr |
T |
C |
15: 89,452,617 (GRCm39) |
V18A |
probably benign |
Het |
Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
Aldh16a1 |
A |
G |
7: 44,791,517 (GRCm39) |
F753L |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,629,191 (GRCm39) |
Y338N |
probably benign |
Het |
Aox3 |
C |
T |
1: 58,208,953 (GRCm39) |
R829C |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,644,353 (GRCm39) |
S1535P |
probably benign |
Het |
C4b |
A |
G |
17: 34,961,993 (GRCm39) |
|
probably benign |
Het |
Ccdc157 |
A |
G |
11: 4,098,781 (GRCm39) |
C242R |
probably damaging |
Het |
Cep135 |
T |
A |
5: 76,741,194 (GRCm39) |
M90K |
possibly damaging |
Het |
Cfap36 |
A |
T |
11: 29,194,057 (GRCm39) |
|
probably null |
Het |
Chl1 |
A |
G |
6: 103,685,445 (GRCm39) |
T829A |
probably benign |
Het |
Copb2 |
T |
C |
9: 98,463,203 (GRCm39) |
S473P |
probably damaging |
Het |
Cpb1 |
C |
T |
3: 20,306,118 (GRCm39) |
|
probably null |
Het |
Cpsf1 |
A |
G |
15: 76,480,741 (GRCm39) |
L1295P |
probably damaging |
Het |
Dmp1 |
C |
T |
5: 104,360,328 (GRCm39) |
Q335* |
probably null |
Het |
Dyrk1a |
T |
A |
16: 94,492,743 (GRCm39) |
S621T |
possibly damaging |
Het |
Exoc5 |
T |
A |
14: 49,272,421 (GRCm39) |
Q331L |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,857,750 (GRCm39) |
S2015P |
possibly damaging |
Het |
Gm7052 |
T |
C |
17: 22,258,985 (GRCm39) |
|
probably benign |
Het |
Gprc5c |
A |
G |
11: 114,755,078 (GRCm39) |
I252V |
probably benign |
Het |
Ints3 |
C |
T |
3: 90,301,629 (GRCm39) |
|
probably null |
Het |
L1td1 |
A |
G |
4: 98,625,581 (GRCm39) |
D592G |
probably damaging |
Het |
Lamb3 |
A |
G |
1: 193,025,720 (GRCm39) |
M1137V |
probably benign |
Het |
Leng8 |
C |
A |
7: 4,148,481 (GRCm39) |
A751E |
probably benign |
Het |
Lfng |
T |
C |
5: 140,598,290 (GRCm39) |
V204A |
probably damaging |
Het |
Lsm14b |
A |
G |
2: 179,674,396 (GRCm39) |
D233G |
probably damaging |
Het |
Map4 |
C |
T |
9: 109,863,836 (GRCm39) |
P354S |
probably benign |
Het |
Mapt |
G |
A |
11: 104,185,741 (GRCm39) |
V53M |
probably damaging |
Het |
Mier1 |
T |
G |
4: 103,012,738 (GRCm39) |
S377A |
possibly damaging |
Het |
Neurog1 |
T |
C |
13: 56,399,660 (GRCm39) |
D29G |
probably damaging |
Het |
Npr3 |
G |
A |
15: 11,895,875 (GRCm39) |
A257V |
probably damaging |
Het |
Nup188 |
T |
C |
2: 30,217,537 (GRCm39) |
V824A |
possibly damaging |
Het |
Olfm4 |
T |
C |
14: 80,258,750 (GRCm39) |
S333P |
probably damaging |
Het |
Or7g30 |
T |
G |
9: 19,353,111 (GRCm39) |
F301V |
probably benign |
Het |
Or9a4 |
A |
C |
6: 40,549,186 (GRCm39) |
I289L |
probably damaging |
Het |
Pbxip1 |
C |
A |
3: 89,350,897 (GRCm39) |
|
probably benign |
Het |
Pde9a |
G |
T |
17: 31,633,124 (GRCm39) |
C38F |
probably damaging |
Het |
Plb1 |
A |
T |
5: 32,499,888 (GRCm39) |
|
probably benign |
Het |
Plcz1 |
T |
C |
6: 139,947,982 (GRCm39) |
|
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,939,672 (GRCm39) |
V1447A |
probably damaging |
Het |
Pnldc1 |
A |
T |
17: 13,125,415 (GRCm39) |
M73K |
probably benign |
Het |
Psg20 |
C |
T |
7: 18,414,963 (GRCm39) |
V311M |
possibly damaging |
Het |
Psmd2 |
G |
T |
16: 20,478,155 (GRCm39) |
|
probably null |
Het |
Rabgap1 |
T |
C |
2: 37,446,281 (GRCm39) |
V859A |
probably damaging |
Het |
Rad51b |
T |
A |
12: 79,374,002 (GRCm39) |
S194T |
probably benign |
Het |
Rb1cc1 |
C |
T |
1: 6,318,995 (GRCm39) |
Q788* |
probably null |
Het |
Ror2 |
C |
T |
13: 53,265,653 (GRCm39) |
G468R |
probably damaging |
Het |
Slamf7 |
A |
G |
1: 171,468,754 (GRCm39) |
I46T |
possibly damaging |
Het |
Stab2 |
A |
G |
10: 86,758,759 (GRCm39) |
S1060P |
probably damaging |
Het |
Syndig1 |
T |
A |
2: 149,845,203 (GRCm39) |
V242E |
probably damaging |
Het |
Tgfbr3 |
G |
A |
5: 107,266,317 (GRCm39) |
T801M |
probably damaging |
Het |
Tmem132c |
T |
C |
5: 127,436,616 (GRCm39) |
|
probably benign |
Het |
Trav21-dv12 |
T |
C |
14: 54,114,188 (GRCm39) |
Y103H |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,370,596 (GRCm39) |
S871P |
possibly damaging |
Het |
Ubr3 |
T |
C |
2: 69,768,522 (GRCm39) |
V443A |
probably damaging |
Het |
Uhrf2 |
G |
T |
19: 30,069,520 (GRCm39) |
C749F |
probably damaging |
Het |
Ulk2 |
G |
T |
11: 61,682,262 (GRCm39) |
S751* |
probably null |
Het |
Wrn |
G |
A |
8: 33,731,039 (GRCm39) |
P1098S |
possibly damaging |
Het |
Xrcc5 |
T |
C |
1: 72,385,508 (GRCm39) |
V533A |
possibly damaging |
Het |
Zc3h13 |
T |
C |
14: 75,547,163 (GRCm39) |
S223P |
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 |
|
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 |
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 |
2013-12-09 |