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 |
Incidental Mutation