Incidental Mutation 'R7862:Fmnl1'
ID |
607591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl1
|
Ensembl Gene |
ENSMUSG00000055805 |
Gene Name |
formin-like 1 |
Synonyms |
formin-related gene in leukocytes, 8030453N10Rik |
MMRRC Submission |
045915-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R7862 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
103171107-103198901 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103180930 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 88
(K88E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042286]
[ENSMUST00000107027]
[ENSMUST00000218163]
|
AlphaFold |
Q9JL26 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042286
AA Change: K88E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805 AA Change: K88E
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: K88E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805 AA Change: K88E
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: ENSMUST00000218163
AA Change: K88E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004B18Rik |
A |
C |
3: 145,943,869 |
*181S |
probably null |
Het |
Abcc10 |
G |
T |
17: 46,315,532 |
S661* |
probably null |
Het |
Abtb2 |
C |
T |
2: 103,702,281 |
R475W |
probably damaging |
Het |
Cep97 |
T |
C |
16: 55,905,721 |
D673G |
probably benign |
Het |
Chaf1b |
T |
C |
16: 93,888,095 |
M144T |
possibly damaging |
Het |
Chd8 |
T |
C |
14: 52,214,277 |
D1372G |
probably damaging |
Het |
Chmp6 |
G |
A |
11: 119,917,010 |
|
probably null |
Het |
Cst12 |
T |
C |
2: 148,789,575 |
V72A |
probably damaging |
Het |
D1Pas1 |
G |
A |
1: 186,968,152 |
G93R |
probably damaging |
Het |
Dhx34 |
C |
A |
7: 16,210,523 |
V589F |
probably damaging |
Het |
Dlg5 |
G |
A |
14: 24,245,212 |
P80L |
probably damaging |
Het |
Dmrta1 |
C |
A |
4: 89,688,324 |
H6N |
probably benign |
Het |
Dopey2 |
T |
C |
16: 93,749,963 |
L285P |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,475,434 |
Y188C |
probably damaging |
Het |
Ehbp1l1 |
C |
T |
19: 5,720,823 |
R230Q |
probably benign |
Het |
Ep300 |
T |
G |
15: 81,650,753 |
V2337G |
probably damaging |
Het |
Fh1 |
A |
T |
1: 175,614,834 |
V150E |
probably damaging |
Het |
Fkbp11 |
G |
A |
15: 98,726,508 |
R122* |
probably null |
Het |
Fkbp5 |
C |
T |
17: 28,412,039 |
E251K |
probably damaging |
Het |
Frrs1 |
T |
C |
3: 116,891,880 |
V300A |
possibly damaging |
Het |
Glud1 |
T |
G |
14: 34,325,522 |
L198V |
possibly damaging |
Het |
Gsdmc |
A |
T |
15: 63,777,996 |
W349R |
possibly damaging |
Het |
Hacd1 |
T |
C |
2: 14,045,202 |
H64R |
probably damaging |
Het |
Haus2 |
T |
A |
2: 120,613,089 |
D75E |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,806,421 |
F459L |
probably damaging |
Het |
Ighe |
A |
T |
12: 113,271,808 |
V272E |
|
Het |
Iqgap1 |
C |
T |
7: 80,743,888 |
R647H |
probably benign |
Het |
Jmy |
T |
C |
13: 93,499,195 |
I38V |
possibly damaging |
Het |
Kcnh1 |
G |
T |
1: 192,190,859 |
|
probably benign |
Het |
Kctd20 |
C |
T |
17: 28,962,875 |
A167V |
probably damaging |
Het |
Klhl38 |
A |
T |
15: 58,314,999 |
V525E |
probably damaging |
Het |
Krit1 |
A |
G |
5: 3,812,788 |
D259G |
probably damaging |
Het |
Med1 |
A |
T |
11: 98,161,210 |
C443S |
probably benign |
Het |
Mllt6 |
T |
C |
11: 97,665,805 |
V107A |
probably benign |
Het |
Myl7 |
A |
G |
11: 5,897,157 |
M132T |
probably benign |
Het |
Myo10 |
T |
C |
15: 25,666,436 |
V11A |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,325,752 |
I1642V |
probably benign |
Het |
Olfr1256 |
T |
C |
2: 89,835,124 |
T274A |
probably benign |
Het |
Olfr807 |
T |
C |
10: 129,755,355 |
T32A |
probably benign |
Het |
Olfr843 |
C |
A |
9: 19,249,440 |
|
probably benign |
Het |
Olfr918 |
C |
T |
9: 38,673,328 |
V39M |
probably benign |
Het |
Pcdhb2 |
C |
T |
18: 37,296,060 |
A362V |
probably benign |
Het |
Pnp2 |
A |
T |
14: 50,963,559 |
D167V |
possibly damaging |
Het |
Rasa1 |
G |
A |
13: 85,255,411 |
T282I |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,028,027 |
D354G |
probably damaging |
Het |
Rpap1 |
C |
T |
2: 119,775,412 |
|
probably null |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,579,923 |
|
probably benign |
Het |
Shank3 |
A |
G |
15: 89,505,445 |
D415G |
possibly damaging |
Het |
Slc12a1 |
A |
G |
2: 125,161,094 |
I182V |
probably damaging |
Het |
Slc6a13 |
A |
G |
6: 121,335,630 |
Y441C |
probably damaging |
Het |
Sltm |
G |
T |
9: 70,572,164 |
E193* |
probably null |
Het |
Spag9 |
T |
C |
11: 94,112,066 |
I1134T |
possibly damaging |
Het |
Spta1 |
G |
A |
1: 174,197,785 |
|
probably null |
Het |
Stk3 |
A |
G |
15: 35,115,586 |
V29A |
possibly damaging |
Het |
Tgfbr1 |
A |
T |
4: 47,403,489 |
I365F |
probably damaging |
Het |
Thpo |
C |
T |
16: 20,728,790 |
V24I |
probably benign |
Het |
Tle1 |
A |
C |
4: 72,199,315 |
L36R |
probably damaging |
Het |
Togaram2 |
T |
C |
17: 71,689,173 |
V57A |
probably benign |
Het |
Ttll9 |
C |
T |
2: 153,006,975 |
A459V |
probably benign |
Het |
Ush1c |
T |
C |
7: 46,221,424 |
I330V |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,464,718 |
M2906T |
|
Het |
Vmn2r28 |
A |
T |
7: 5,490,614 |
M111K |
probably benign |
Het |
Vmn2r97 |
T |
C |
17: 18,947,154 |
C557R |
probably damaging |
Het |
Zfp873 |
T |
A |
10: 82,060,275 |
I280K |
probably benign |
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 |
|
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 |
|
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'- ACATGGCCAAAGTTTGTGCC -3'
(R):5'- ATGTATGGACTCAGGGATACACAAG -3'
Sequencing Primer
(F):5'- GCCTTTGGTATTTCAGAAGCAG -3'
(R):5'- TCTATGCATGAATACACAGGGTGC -3'
|
Posted On |
2019-12-20 |