Incidental Mutation 'R2082:Fmnl1'
ID |
230099 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl1
|
Ensembl Gene |
ENSMUSG00000055805 |
Gene Name |
formin-like 1 |
Synonyms |
formin-related gene in leukocytes, 8030453N10Rik |
MMRRC Submission |
040087-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R2082 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
103061933-103089727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103082851 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 363
(L363P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042286]
[ENSMUST00000107027]
[ENSMUST00000129726]
[ENSMUST00000218163]
|
AlphaFold |
Q9JL26 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000021322
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042286
AA Change: L363P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805 AA Change: L363P
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: L363P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805 AA Change: L363P
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 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 |
noncoding transcript
Transcript: ENSMUST00000154871
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174079
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218163
AA Change: L369P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
T |
A |
2: 30,686,391 (GRCm39) |
|
probably null |
Het |
4933427I04Rik |
A |
G |
4: 123,754,769 (GRCm39) |
I228V |
probably benign |
Het |
Aco2 |
T |
C |
15: 81,797,896 (GRCm39) |
W657R |
possibly damaging |
Het |
Acsm2 |
T |
A |
7: 119,179,857 (GRCm39) |
H333Q |
probably benign |
Het |
Adamts18 |
C |
T |
8: 114,501,965 (GRCm39) |
V299I |
probably damaging |
Het |
Adat2 |
G |
A |
10: 13,435,907 (GRCm39) |
C84Y |
probably damaging |
Het |
Arhgef11 |
C |
T |
3: 87,633,303 (GRCm39) |
T690I |
possibly damaging |
Het |
Cachd1 |
A |
G |
4: 100,860,155 (GRCm39) |
D1242G |
probably damaging |
Het |
Casp14 |
A |
G |
10: 78,550,867 (GRCm39) |
M106T |
probably benign |
Het |
Ccdc69 |
T |
A |
11: 54,943,215 (GRCm39) |
I130F |
probably damaging |
Het |
Cdk9 |
A |
G |
2: 32,599,513 (GRCm39) |
L189P |
probably damaging |
Het |
Cfhr1 |
C |
T |
1: 139,478,624 (GRCm39) |
V249I |
possibly damaging |
Het |
Chst1 |
T |
C |
2: 92,444,335 (GRCm39) |
V269A |
possibly damaging |
Het |
Col18a1 |
G |
T |
10: 76,895,127 (GRCm39) |
P1178Q |
probably damaging |
Het |
Col6a1 |
A |
G |
10: 76,545,430 (GRCm39) |
L1014P |
probably damaging |
Het |
Crisp3 |
T |
C |
17: 40,536,751 (GRCm39) |
Y188C |
probably damaging |
Het |
Dse |
G |
A |
10: 34,031,936 (GRCm39) |
R363C |
probably damaging |
Het |
Exoc5 |
T |
C |
14: 49,253,044 (GRCm39) |
I525V |
probably benign |
Het |
Fech |
A |
T |
18: 64,591,260 (GRCm39) |
I388N |
probably damaging |
Het |
Gm10842 |
T |
A |
11: 105,037,909 (GRCm39) |
L64Q |
unknown |
Het |
Gm8225 |
C |
A |
17: 26,762,670 (GRCm39) |
P287Q |
possibly damaging |
Het |
Hsp90aa1 |
A |
T |
12: 110,659,261 (GRCm39) |
L512H |
probably damaging |
Het |
Ifi30 |
T |
C |
8: 71,216,373 (GRCm39) |
|
probably benign |
Het |
Iqsec1 |
A |
T |
6: 90,671,556 (GRCm39) |
D115E |
probably damaging |
Het |
Kcnu1 |
T |
A |
8: 26,411,577 (GRCm39) |
L174H |
probably damaging |
Het |
Krt10 |
A |
G |
11: 99,279,701 (GRCm39) |
V153A |
probably damaging |
Het |
Krt18 |
G |
A |
15: 101,939,455 (GRCm39) |
|
probably null |
Het |
Micu1 |
A |
G |
10: 59,699,129 (GRCm39) |
T469A |
probably benign |
Het |
Mtss2 |
T |
C |
8: 111,452,889 (GRCm39) |
|
probably null |
Het |
Myo10 |
T |
A |
15: 25,786,079 (GRCm39) |
F1253L |
probably damaging |
Het |
N4bp2 |
A |
T |
5: 65,964,908 (GRCm39) |
T986S |
probably damaging |
Het |
Naip6 |
C |
A |
13: 100,440,852 (GRCm39) |
|
probably null |
Het |
Nphp4 |
G |
A |
4: 152,643,821 (GRCm39) |
V1117M |
probably benign |
Het |
Oca2 |
C |
A |
7: 55,946,885 (GRCm39) |
Q305K |
probably benign |
Het |
Or56b34 |
C |
T |
7: 104,937,710 (GRCm39) |
Q137* |
probably null |
Het |
Or5k3 |
T |
A |
16: 58,969,248 (GRCm39) |
F12I |
probably damaging |
Het |
Or7g27 |
G |
A |
9: 19,250,574 (GRCm39) |
V273I |
probably benign |
Het |
P2rx7 |
A |
T |
5: 122,782,158 (GRCm39) |
N8Y |
possibly damaging |
Het |
Pag1 |
A |
T |
3: 9,764,545 (GRCm39) |
S203T |
probably damaging |
Het |
Pfn4 |
T |
A |
12: 4,825,439 (GRCm39) |
|
probably null |
Het |
Pip4k2c |
T |
C |
10: 127,034,958 (GRCm39) |
D414G |
probably damaging |
Het |
Pkp1 |
T |
G |
1: 135,812,714 (GRCm39) |
Q329P |
possibly damaging |
Het |
Polrmt |
A |
T |
10: 79,579,346 (GRCm39) |
I135N |
probably benign |
Het |
Ppa2 |
G |
A |
3: 133,076,178 (GRCm39) |
R269H |
probably benign |
Het |
Ppp3cb |
T |
C |
14: 20,558,746 (GRCm39) |
T439A |
possibly damaging |
Het |
Prkdc |
A |
G |
16: 15,533,827 (GRCm39) |
Y1555C |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,553,774 (GRCm39) |
D859G |
probably damaging |
Het |
Sema5a |
T |
A |
15: 32,619,002 (GRCm39) |
M510K |
probably benign |
Het |
Slc22a16 |
A |
G |
10: 40,461,335 (GRCm39) |
E379G |
probably benign |
Het |
Slc30a5 |
C |
A |
13: 100,943,041 (GRCm39) |
|
probably null |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tbc1d9 |
A |
T |
8: 83,997,616 (GRCm39) |
S1058C |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,191,488 (GRCm39) |
L982P |
possibly damaging |
Het |
Tmem101 |
G |
T |
11: 102,044,203 (GRCm39) |
T228K |
probably benign |
Het |
Tshz2 |
G |
T |
2: 169,728,135 (GRCm39) |
K441N |
probably damaging |
Het |
Upf1 |
A |
T |
8: 70,794,222 (GRCm39) |
I228N |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,921,338 (GRCm39) |
I692N |
probably damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,679,230 (GRCm39) |
S665P |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,910,892 (GRCm39) |
V3552A |
possibly damaging |
Het |
Vps35 |
A |
T |
8: 85,990,094 (GRCm39) |
M638K |
possibly damaging |
Het |
Vps41 |
T |
G |
13: 19,036,521 (GRCm39) |
I645S |
probably benign |
Het |
Zfp703 |
T |
C |
8: 27,469,016 (GRCm39) |
S227P |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTACCGAGCTTCTGAGAAAG -3'
(R):5'- CCATTCAGTACTTGCTACACAC -3'
Sequencing Primer
(F):5'- CTAGAGTCCTAGTACCTTCCT -3'
(R):5'- TAGAGCAGCCTTCCTGTGG -3'
|
Posted On |
2014-09-18 |