Incidental Mutation 'R0241:Fmnl1'
| ID |
59504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmnl1
|
| Ensembl Gene |
ENSMUSG00000055805 |
| Gene Name |
formin-like 1 |
| Synonyms |
formin-related gene in leukocytes, 8030453N10Rik |
| MMRRC Submission |
038479-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R0241 (G1)
|
| Quality Score |
98 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
103171107-103198901 bp(+) (GRCm38) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 103182170 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042286]
[ENSMUST00000107027]
[ENSMUST00000107027]
[ENSMUST00000218163]
|
| AlphaFold |
Q9JL26 |
| 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 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: 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 |
noncoding transcript
Transcript: ENSMUST00000126425
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154871
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218163
|
| Meta Mutation Damage Score |
0.9592 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
99% (72/73) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
T |
A |
6: 39,583,818 (GRCm38) |
V380E |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,628,629 (GRCm38) |
M1527K |
possibly damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,599,214 (GRCm38) |
I1575F |
probably damaging |
Het |
| Atp4a |
G |
T |
7: 30,717,135 (GRCm38) |
G446C |
probably benign |
Het |
| Bicra |
A |
T |
7: 15,975,145 (GRCm38) |
M1188K |
probably damaging |
Het |
| Brd7 |
G |
A |
8: 88,345,850 (GRCm38) |
R331W |
probably benign |
Het |
| Cactin |
A |
G |
10: 81,322,652 (GRCm38) |
T151A |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,376,675 (GRCm38) |
T1274M |
probably damaging |
Het |
| Catsper3 |
T |
C |
13: 55,804,854 (GRCm38) |
M175T |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,366,132 (GRCm38) |
D605G |
probably damaging |
Het |
| Chst12 |
G |
A |
5: 140,524,299 (GRCm38) |
R227H |
possibly damaging |
Het |
| Cic |
C |
A |
7: 25,287,141 (GRCm38) |
S1299Y |
probably damaging |
Het |
| Cic |
T |
A |
7: 25,287,140 (GRCm38) |
S1299T |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,254,524 (GRCm38) |
V644E |
probably benign |
Het |
| Ddx31 |
A |
G |
2: 28,848,291 (GRCm38) |
T155A |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,922,730 (GRCm38) |
Q4069R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,765,679 (GRCm38) |
I3117T |
probably damaging |
Het |
| Doc2b |
A |
G |
11: 75,772,561 (GRCm38) |
V355A |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,578,623 (GRCm38) |
S578T |
probably benign |
Het |
| Duox1 |
T |
C |
2: 122,333,397 (GRCm38) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,567,779 (GRCm38) |
|
probably null |
Het |
| Fbp2 |
A |
T |
13: 62,854,048 (GRCm38) |
F118I |
probably damaging |
Het |
| Fcer2a |
A |
G |
8: 3,688,796 (GRCm38) |
|
probably null |
Het |
| Fry |
A |
T |
5: 150,260,346 (GRCm38) |
|
probably benign |
Het |
| Git2 |
T |
C |
5: 114,733,229 (GRCm38) |
E208G |
probably damaging |
Het |
| Gm13757 |
A |
T |
2: 88,446,545 (GRCm38) |
M131K |
possibly damaging |
Het |
| Hs6st3 |
T |
C |
14: 119,138,820 (GRCm38) |
F136L |
probably benign |
Het |
| Hydin |
G |
A |
8: 110,398,023 (GRCm38) |
V555I |
probably benign |
Het |
| Kcns1 |
A |
T |
2: 164,168,380 (GRCm38) |
I153N |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,577,069 (GRCm38) |
L1726S |
probably damaging |
Het |
| Loxl3 |
A |
G |
6: 83,050,133 (GRCm38) |
D615G |
probably damaging |
Het |
| Negr1 |
T |
A |
3: 157,208,399 (GRCm38) |
|
probably benign |
Het |
| Nfasc |
C |
A |
1: 132,636,993 (GRCm38) |
A70S |
probably benign |
Het |
| Odf3l2 |
C |
T |
10: 79,644,730 (GRCm38) |
|
probably null |
Het |
| Olfr464 |
T |
A |
11: 87,914,034 (GRCm38) |
N291Y |
probably damaging |
Het |
| Olfr658 |
A |
G |
7: 104,645,243 (GRCm38) |
M41T |
probably benign |
Het |
| Olfr998 |
A |
G |
2: 85,590,810 (GRCm38) |
K90R |
probably benign |
Het |
| Otud7a |
T |
C |
7: 63,697,244 (GRCm38) |
|
probably benign |
Het |
| Pacs2 |
T |
C |
12: 113,069,270 (GRCm38) |
|
probably benign |
Het |
| Pde7b |
A |
G |
10: 20,436,216 (GRCm38) |
C239R |
probably damaging |
Het |
| Pdzd2 |
A |
T |
15: 12,367,941 (GRCm38) |
L2654Q |
probably damaging |
Het |
| Pgap1 |
T |
C |
1: 54,535,951 (GRCm38) |
|
probably null |
Het |
| Proz |
T |
A |
8: 13,065,356 (GRCm38) |
M124K |
probably benign |
Het |
| Raet1d |
A |
G |
10: 22,371,429 (GRCm38) |
T135A |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,702,670 (GRCm38) |
N558S |
possibly damaging |
Het |
| Rpl7 |
C |
G |
1: 16,103,222 (GRCm38) |
G101A |
possibly damaging |
Het |
| Sec14l1 |
G |
A |
11: 117,147,098 (GRCm38) |
|
probably benign |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,177,419 (GRCm38) |
|
probably benign |
Het |
| Simc1 |
G |
T |
13: 54,550,525 (GRCm38) |
L1319F |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,461,495 (GRCm38) |
E1499G |
possibly damaging |
Het |
| Tango6 |
C |
T |
8: 106,747,361 (GRCm38) |
|
probably benign |
Het |
| Tas2r118 |
T |
C |
6: 23,969,339 (GRCm38) |
Y241C |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,724,875 (GRCm38) |
E344G |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,284,078 (GRCm38) |
E120K |
probably benign |
Het |
| Thop1 |
T |
A |
10: 81,080,245 (GRCm38) |
|
probably benign |
Het |
| Tmbim7 |
A |
T |
5: 3,666,866 (GRCm38) |
Y66F |
probably benign |
Het |
| Tmc8 |
C |
T |
11: 117,786,381 (GRCm38) |
|
probably benign |
Het |
| Tnfrsf19 |
A |
G |
14: 60,973,592 (GRCm38) |
S216P |
possibly damaging |
Het |
| Trappc2l |
A |
G |
8: 122,614,393 (GRCm38) |
|
probably benign |
Het |
| Trim67 |
A |
G |
8: 124,823,190 (GRCm38) |
R520G |
probably damaging |
Het |
| Ubp1 |
T |
A |
9: 113,966,587 (GRCm38) |
|
probably null |
Het |
| Vil1 |
T |
C |
1: 74,426,694 (GRCm38) |
L548P |
probably damaging |
Het |
| Wdr3 |
A |
G |
3: 100,145,657 (GRCm38) |
V593A |
probably damaging |
Het |
| Wdr5 |
A |
G |
2: 27,533,013 (GRCm38) |
Y243C |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,421,822 (GRCm38) |
T2858A |
unknown |
Het |
| Zbtb37 |
A |
T |
1: 161,020,369 (GRCm38) |
V356E |
probably benign |
Het |
| Zfp36 |
C |
T |
7: 28,378,334 (GRCm38) |
V50I |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,104,685 (GRCm38) |
S85C |
possibly damaging |
Het |
|
| Other mutations in Fmnl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00424:Fmnl1
|
APN |
11 |
103,197,340 (GRCm38) |
nonsense |
probably null |
|
|
IGL00972:Fmnl1
|
APN |
11 |
103,180,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01406:Fmnl1
|
APN |
11 |
103,194,690 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01417:Fmnl1
|
APN |
11 |
103,196,694 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01599:Fmnl1
|
APN |
11 |
103,186,656 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02151:Fmnl1
|
APN |
11 |
103,192,772 (GRCm38) |
missense |
probably benign |
0.38 |
|
IGL02324:Fmnl1
|
APN |
11 |
103,179,538 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02812:Fmnl1
|
APN |
11 |
103,196,766 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03369:Fmnl1
|
APN |
11 |
103,197,182 (GRCm38) |
splice site |
probably null |
|
|
archetypal
|
UTSW |
11 |
103,186,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
contractual
|
UTSW |
11 |
103,180,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
stylistic
|
UTSW |
11 |
103,193,736 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0077:Fmnl1
|
UTSW |
11 |
103,189,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0241:Fmnl1
|
UTSW |
11 |
103,182,170 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0413:Fmnl1
|
UTSW |
11 |
103,194,063 (GRCm38) |
splice site |
probably benign |
|
|
R1170:Fmnl1
|
UTSW |
11 |
103,197,370 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1389:Fmnl1
|
UTSW |
11 |
103,186,709 (GRCm38) |
splice site |
probably null |
|
|
R1794:Fmnl1
|
UTSW |
11 |
103,197,147 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2082:Fmnl1
|
UTSW |
11 |
103,192,025 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2105:Fmnl1
|
UTSW |
11 |
103,194,692 (GRCm38) |
missense |
probably benign |
0.39 |
|
R3611:Fmnl1
|
UTSW |
11 |
103,194,765 (GRCm38) |
unclassified |
probably benign |
|
|
R3883:Fmnl1
|
UTSW |
11 |
103,182,114 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3893:Fmnl1
|
UTSW |
11 |
103,196,757 (GRCm38) |
unclassified |
probably benign |
|
|
R4658:Fmnl1
|
UTSW |
11 |
103,197,694 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4689:Fmnl1
|
UTSW |
11 |
103,193,736 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4812:Fmnl1
|
UTSW |
11 |
103,198,564 (GRCm38) |
unclassified |
probably benign |
|
|
R4996:Fmnl1
|
UTSW |
11 |
103,182,656 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R5646:Fmnl1
|
UTSW |
11 |
103,196,512 (GRCm38) |
unclassified |
probably benign |
|
|
R5702:Fmnl1
|
UTSW |
11 |
103,185,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5850:Fmnl1
|
UTSW |
11 |
103,195,285 (GRCm38) |
unclassified |
probably benign |
|
|
R5903:Fmnl1
|
UTSW |
11 |
103,171,444 (GRCm38) |
splice site |
probably null |
|
|
R6254:Fmnl1
|
UTSW |
11 |
103,196,315 (GRCm38) |
unclassified |
probably benign |
|
|
R6958:Fmnl1
|
UTSW |
11 |
103,171,314 (GRCm38) |
start codon destroyed |
probably null |
1.00 |
|
R7030:Fmnl1
|
UTSW |
11 |
103,194,774 (GRCm38) |
unclassified |
probably benign |
|
|
R7133:Fmnl1
|
UTSW |
11 |
103,181,784 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7171:Fmnl1
|
UTSW |
11 |
103,190,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7224:Fmnl1
|
UTSW |
11 |
103,182,769 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7282:Fmnl1
|
UTSW |
11 |
103,196,265 (GRCm38) |
missense |
unknown |
|
|
R7448:Fmnl1
|
UTSW |
11 |
103,186,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7463:Fmnl1
|
UTSW |
11 |
103,193,128 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7831:Fmnl1
|
UTSW |
11 |
103,198,173 (GRCm38) |
missense |
unknown |
|
|
R7862:Fmnl1
|
UTSW |
11 |
103,180,930 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7973:Fmnl1
|
UTSW |
11 |
103,171,158 (GRCm38) |
start gained |
probably benign |
|
|
R8177:Fmnl1
|
UTSW |
11 |
103,189,959 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8273:Fmnl1
|
UTSW |
11 |
103,186,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8345:Fmnl1
|
UTSW |
11 |
103,186,614 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8507:Fmnl1
|
UTSW |
11 |
103,194,033 (GRCm38) |
missense |
unknown |
|
|
R8921:Fmnl1
|
UTSW |
11 |
103,197,141 (GRCm38) |
missense |
unknown |
|
|
R8946:Fmnl1
|
UTSW |
11 |
103,180,915 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8968:Fmnl1
|
UTSW |
11 |
103,186,618 (GRCm38) |
small deletion |
probably benign |
|
|
R9114:Fmnl1
|
UTSW |
11 |
103,196,501 (GRCm38) |
missense |
unknown |
|
|
R9696:Fmnl1
|
UTSW |
11 |
103,195,471 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGACAAACCACATTGGGTAAGC -3'
(R):5'- AGCTCTATGGTGAGCACAGTGAGG -3'
Sequencing Primer
(F):5'- CTTAGGAAAACTGTGACTCTGGC -3'
(R):5'- TGAGGGAGCAGGAAGGTCC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation