Incidental Mutation 'R4658:Fmnl1'
ID |
352617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl1
|
Ensembl Gene |
ENSMUSG00000055805 |
Gene Name |
formin-like 1 |
Synonyms |
formin-related gene in leukocytes, 8030453N10Rik |
MMRRC Submission |
041918-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R4658 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
103061933-103089727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103088520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 90
(I90F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133299
(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 |
unknown
Transcript: ENSMUST00000042286
AA Change: I1033F
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805 AA Change: I1033F
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: I1033F
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805 AA Change: I1033F
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 damaging
Transcript: ENSMUST00000129726
AA Change: I90F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133299 Gene: ENSMUSG00000055805 AA Change: I90F
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 |
unknown
Transcript: ENSMUST00000218163
AA Change: I1039F
|
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 |
|
Meta Mutation Damage Score |
0.2481 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
99% (88/89) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
T |
5: 114,338,625 (GRCm39) |
R778S |
probably damaging |
Het |
Adam17 |
A |
G |
12: 21,382,161 (GRCm39) |
C567R |
probably damaging |
Het |
Ankrd28 |
G |
A |
14: 31,432,825 (GRCm39) |
A758V |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,775,349 (GRCm39) |
Y151H |
probably damaging |
Het |
B3gat3 |
A |
G |
19: 8,902,996 (GRCm39) |
T118A |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,228,367 (GRCm39) |
C822R |
probably damaging |
Het |
Capn15 |
G |
T |
17: 26,179,742 (GRCm39) |
Q807K |
probably benign |
Het |
Clec12a |
T |
C |
6: 129,331,493 (GRCm39) |
Y145H |
probably damaging |
Het |
Clk1 |
T |
C |
1: 58,452,146 (GRCm39) |
I393V |
probably benign |
Het |
Cpm |
A |
G |
10: 117,503,956 (GRCm39) |
I121V |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,279,448 (GRCm39) |
I405T |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,549,874 (GRCm39) |
S3471P |
probably damaging |
Het |
Dok6 |
A |
G |
18: 89,491,971 (GRCm39) |
|
probably benign |
Het |
Eif4g1 |
A |
T |
16: 20,504,684 (GRCm39) |
D1124V |
possibly damaging |
Het |
Eif4g3 |
A |
G |
4: 137,933,443 (GRCm39) |
E1756G |
probably damaging |
Het |
Exo5 |
A |
G |
4: 120,779,748 (GRCm39) |
V39A |
probably benign |
Het |
Fryl |
G |
T |
5: 73,238,396 (GRCm39) |
T1450K |
probably damaging |
Het |
Gde1 |
T |
C |
7: 118,293,751 (GRCm39) |
M91V |
probably benign |
Het |
Gimd1 |
T |
C |
3: 132,350,343 (GRCm39) |
I84T |
probably damaging |
Het |
Gm13889 |
C |
T |
2: 93,787,453 (GRCm39) |
|
probably benign |
Het |
Gm6445 |
T |
A |
19: 9,585,561 (GRCm39) |
|
noncoding transcript |
Het |
Gm8113 |
T |
C |
14: 44,169,867 (GRCm39) |
S483P |
probably damaging |
Het |
Grik2 |
T |
C |
10: 49,399,888 (GRCm39) |
I281V |
possibly damaging |
Het |
Grik5 |
T |
C |
7: 24,760,152 (GRCm39) |
|
probably benign |
Het |
Herc1 |
A |
T |
9: 66,386,773 (GRCm39) |
I3796F |
possibly damaging |
Het |
Hoxb13 |
A |
T |
11: 96,085,309 (GRCm39) |
D14V |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,261,041 (GRCm39) |
Y1645C |
probably damaging |
Het |
Igkv8-16 |
G |
T |
6: 70,363,762 (GRCm39) |
R87S |
probably damaging |
Het |
Ints1 |
A |
T |
5: 139,760,054 (GRCm39) |
V140E |
possibly damaging |
Het |
Kbtbd11 |
C |
A |
8: 15,078,917 (GRCm39) |
D505E |
possibly damaging |
Het |
Kcnu1 |
G |
A |
8: 26,427,583 (GRCm39) |
C300Y |
probably damaging |
Het |
Kmt2d |
G |
C |
15: 98,750,410 (GRCm39) |
|
probably benign |
Het |
Lats1 |
T |
C |
10: 7,578,493 (GRCm39) |
V539A |
probably benign |
Het |
Lipo5 |
C |
T |
19: 33,441,922 (GRCm39) |
G200D |
unknown |
Het |
Lmo7 |
C |
A |
14: 102,124,393 (GRCm39) |
A284D |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
Mcpt8 |
T |
C |
14: 56,321,285 (GRCm39) |
M60V |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,730,749 (GRCm39) |
|
probably null |
Het |
Mphosph10 |
A |
G |
7: 64,038,722 (GRCm39) |
|
probably null |
Het |
Muc5b |
G |
A |
7: 141,395,135 (GRCm39) |
S47N |
unknown |
Het |
Notch3 |
A |
T |
17: 32,373,737 (GRCm39) |
N490K |
probably damaging |
Het |
Nr1d1 |
G |
A |
11: 98,662,738 (GRCm39) |
S85L |
possibly damaging |
Het |
Obscn |
T |
A |
11: 58,945,114 (GRCm39) |
R4635* |
probably null |
Het |
Or10al5 |
G |
T |
17: 38,063,054 (GRCm39) |
C103F |
probably damaging |
Het |
Or13f5 |
T |
C |
4: 52,826,240 (GRCm39) |
L281P |
probably damaging |
Het |
Or9i16 |
T |
C |
19: 13,864,912 (GRCm39) |
I221V |
probably benign |
Het |
Pappa |
G |
A |
4: 65,233,033 (GRCm39) |
|
probably null |
Het |
Pcdhb17 |
G |
A |
18: 37,619,652 (GRCm39) |
G481S |
probably damaging |
Het |
Pde1a |
TCC |
TC |
2: 79,728,525 (GRCm39) |
|
probably benign |
Het |
Phf3 |
A |
T |
1: 30,902,169 (GRCm39) |
M48K |
probably damaging |
Het |
Pira2 |
A |
T |
7: 3,843,933 (GRCm39) |
V613E |
probably damaging |
Het |
Poc1a |
T |
C |
9: 106,226,887 (GRCm39) |
S327P |
possibly damaging |
Het |
Ptpn9 |
A |
G |
9: 56,927,321 (GRCm39) |
H66R |
probably benign |
Het |
Rabgap1 |
C |
T |
2: 37,377,561 (GRCm39) |
R353* |
probably null |
Het |
Rcc1l |
G |
T |
5: 134,200,729 (GRCm39) |
N134K |
probably damaging |
Het |
Rims1 |
G |
A |
1: 22,497,793 (GRCm39) |
T787I |
probably damaging |
Het |
Rreb1 |
T |
G |
13: 38,132,777 (GRCm39) |
S1651A |
probably damaging |
Het |
Rsl1d1 |
T |
C |
16: 11,019,238 (GRCm39) |
D100G |
probably damaging |
Het |
Samd4 |
C |
T |
14: 47,301,703 (GRCm39) |
R147C |
probably damaging |
Het |
Serpinb6e |
T |
C |
13: 34,025,299 (GRCm39) |
|
probably benign |
Het |
Ska1 |
T |
C |
18: 74,330,111 (GRCm39) |
I210V |
probably benign |
Het |
Slc17a1 |
A |
G |
13: 24,062,543 (GRCm39) |
I237V |
probably benign |
Het |
Slc22a4 |
A |
T |
11: 53,888,336 (GRCm39) |
S231T |
probably benign |
Het |
Slc7a4 |
T |
A |
16: 17,393,797 (GRCm39) |
M66L |
probably damaging |
Het |
Snapc1 |
A |
G |
12: 74,030,642 (GRCm39) |
T381A |
possibly damaging |
Het |
St6galnac2 |
C |
T |
11: 116,575,351 (GRCm39) |
|
probably benign |
Het |
Taar2 |
C |
T |
10: 23,817,401 (GRCm39) |
L314F |
probably benign |
Het |
Tmem74b |
A |
G |
2: 151,548,561 (GRCm39) |
D96G |
probably damaging |
Het |
Tnfrsf17 |
T |
C |
16: 11,131,833 (GRCm39) |
F6S |
probably benign |
Het |
Tpp2 |
G |
T |
1: 43,993,870 (GRCm39) |
G252W |
probably damaging |
Het |
Trf |
A |
G |
9: 103,100,807 (GRCm39) |
F209L |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,728,935 (GRCm39) |
|
probably benign |
Het |
Uhmk1 |
A |
T |
1: 170,034,774 (GRCm39) |
H311Q |
probably damaging |
Het |
Unc13c |
G |
T |
9: 73,840,108 (GRCm39) |
Q248K |
probably damaging |
Het |
Uqcrc2 |
A |
G |
7: 120,250,144 (GRCm39) |
Y253C |
probably damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,697,390 (GRCm39) |
F101L |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,258,070 (GRCm39) |
N381S |
probably benign |
Het |
Zfp879 |
T |
A |
11: 50,724,024 (GRCm39) |
Y271F |
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 |
|
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'- TTCTGCCCAGAGACAAGGAC -3'
(R):5'- TCAGCACTGAGGTTTTGAGGAATAG -3'
Sequencing Primer
(F):5'- GAGACAAGGACAGTGCCCC -3'
(R):5'- ACCAGGCATCTTGGCATATG -3'
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Posted On |
2015-10-08 |