Incidental Mutation 'R7182:Fmnl2'
ID |
559022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl2
|
Ensembl Gene |
ENSMUSG00000036053 |
Gene Name |
formin-like 2 |
Synonyms |
man, 5430425K04Rik |
MMRRC Submission |
045234-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7182 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
52747872-53023816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 52997453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 468
(L468Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049483]
[ENSMUST00000050719]
[ENSMUST00000090952]
[ENSMUST00000127122]
[ENSMUST00000155586]
|
AlphaFold |
A2APV2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049483
AA Change: L468Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000047260 Gene: ENSMUSG00000036053 AA Change: L468Q
Domain | Start | End | E-Value | Type |
Drf_GBD
|
23 |
275 |
1.19e-96 |
SMART |
Drf_FH3
|
278 |
482 |
8.68e-76 |
SMART |
low complexity region
|
518 |
540 |
N/A |
INTRINSIC |
SCOP:d1jvr__
|
549 |
588 |
8e-3 |
SMART |
FH2
|
615 |
1052 |
1.66e-124 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050719
AA Change: L468Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000057084 Gene: ENSMUSG00000036053 AA Change: L468Q
Domain | Start | End | E-Value | Type |
Drf_GBD
|
23 |
275 |
1.19e-96 |
SMART |
Drf_FH3
|
278 |
482 |
8.68e-76 |
SMART |
low complexity region
|
518 |
540 |
N/A |
INTRINSIC |
low complexity region
|
549 |
568 |
N/A |
INTRINSIC |
FH2
|
581 |
1018 |
1.66e-124 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090952
AA Change: L468Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000088472 Gene: ENSMUSG00000036053 AA Change: L468Q
Domain | Start | End | E-Value | Type |
Drf_GBD
|
23 |
275 |
1.19e-96 |
SMART |
Drf_FH3
|
278 |
482 |
8.68e-76 |
SMART |
low complexity region
|
518 |
540 |
N/A |
INTRINSIC |
SCOP:d1jvr__
|
549 |
588 |
6e-3 |
SMART |
FH2
|
615 |
1052 |
1.66e-124 |
SMART |
low complexity region
|
1063 |
1075 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000127122
AA Change: L468Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118658 Gene: ENSMUSG00000036053 AA Change: L468Q
Domain | Start | End | E-Value | Type |
Drf_GBD
|
23 |
275 |
1.19e-96 |
SMART |
Drf_FH3
|
278 |
482 |
8.68e-76 |
SMART |
low complexity region
|
518 |
540 |
N/A |
INTRINSIC |
SCOP:d1jvr__
|
549 |
588 |
7e-3 |
SMART |
FH2
|
615 |
1052 |
1.66e-124 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000155586
AA Change: L468Q
|
SMART Domains |
Protein: ENSMUSP00000117822 Gene: ENSMUSG00000036053 AA Change: L468Q
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
131 |
2e-33 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
96% (70/73) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
C |
16: 4,667,578 (GRCm39) |
V323A |
unknown |
Het |
AC117241.1 |
A |
G |
17: 7,620,087 (GRCm39) |
V158A |
unknown |
Het |
Acadm |
A |
G |
3: 153,647,518 (GRCm39) |
|
probably null |
Het |
Adcy10 |
T |
G |
1: 165,371,039 (GRCm39) |
|
probably null |
Het |
Aldh6a1 |
C |
T |
12: 84,488,605 (GRCm39) |
A94T |
probably benign |
Het |
Ano2 |
T |
A |
6: 125,767,256 (GRCm39) |
L229Q |
probably damaging |
Het |
Cacna1h |
C |
T |
17: 25,596,629 (GRCm39) |
R1828H |
probably damaging |
Het |
Ccdc33 |
A |
T |
9: 57,941,456 (GRCm39) |
|
probably null |
Het |
Cep112 |
A |
C |
11: 108,573,670 (GRCm39) |
D6A |
probably benign |
Het |
Chd9 |
T |
C |
8: 91,733,250 (GRCm39) |
F1373S |
unknown |
Het |
Cog5 |
T |
C |
12: 31,735,707 (GRCm39) |
L158P |
probably damaging |
Het |
Col6a3 |
G |
A |
1: 90,731,400 (GRCm39) |
Q1618* |
probably null |
Het |
Dlg5 |
A |
G |
14: 24,294,924 (GRCm39) |
V3A |
|
Het |
Dnah7a |
T |
A |
1: 53,659,620 (GRCm39) |
|
probably null |
Het |
Dpp10 |
A |
T |
1: 123,268,880 (GRCm39) |
H716Q |
probably benign |
Het |
Epor |
A |
G |
9: 21,874,625 (GRCm39) |
F35L |
probably benign |
Het |
Ergic1 |
A |
T |
17: 26,873,856 (GRCm39) |
Y92F |
|
Het |
Fam98a |
G |
A |
17: 75,846,013 (GRCm39) |
Q273* |
probably null |
Het |
Fhdc1 |
G |
A |
3: 84,356,157 (GRCm39) |
T429I |
probably damaging |
Het |
Fmnl3 |
C |
T |
15: 99,219,663 (GRCm39) |
R695Q |
probably damaging |
Het |
Gabrg2 |
T |
C |
11: 41,811,333 (GRCm39) |
M271V |
probably damaging |
Het |
Garin4 |
C |
T |
1: 190,895,548 (GRCm39) |
R365H |
probably damaging |
Het |
Gk5 |
G |
T |
9: 96,001,579 (GRCm39) |
V26L |
possibly damaging |
Het |
Gm14412 |
A |
C |
2: 177,007,408 (GRCm39) |
N162K |
probably benign |
Het |
Gm3604 |
T |
C |
13: 62,519,689 (GRCm39) |
D22G |
probably damaging |
Het |
Gm5565 |
G |
T |
5: 146,094,865 (GRCm39) |
H294N |
probably benign |
Het |
Hsf2 |
T |
A |
10: 57,381,272 (GRCm39) |
D287E |
possibly damaging |
Het |
Ift70b |
A |
T |
2: 75,768,293 (GRCm39) |
Y153* |
probably null |
Het |
Impdh2 |
G |
A |
9: 108,440,407 (GRCm39) |
R231H |
possibly damaging |
Het |
Irak3 |
T |
C |
10: 120,002,416 (GRCm39) |
H234R |
probably damaging |
Het |
Lrba |
GTTCCCTTC |
GTTC |
3: 86,648,765 (GRCm39) |
|
probably null |
Het |
Lrch3 |
T |
A |
16: 32,814,149 (GRCm39) |
D551E |
probably benign |
Het |
Manba |
A |
T |
3: 135,273,274 (GRCm39) |
N736I |
probably benign |
Het |
Map2 |
A |
G |
1: 66,451,812 (GRCm39) |
D234G |
possibly damaging |
Het |
Mdk |
C |
A |
2: 91,761,197 (GRCm39) |
K121N |
unknown |
Het |
Mfn1 |
T |
A |
3: 32,618,369 (GRCm39) |
L526Q |
probably damaging |
Het |
Mfsd2b |
A |
G |
12: 4,916,157 (GRCm39) |
|
probably null |
Het |
Mnat1 |
G |
T |
12: 73,277,452 (GRCm39) |
E233* |
probably null |
Het |
Mtmr4 |
T |
C |
11: 87,495,431 (GRCm39) |
|
probably null |
Het |
Mtrf1 |
A |
G |
14: 79,660,904 (GRCm39) |
E432G |
possibly damaging |
Het |
Muc5b |
C |
T |
7: 141,396,382 (GRCm39) |
R165C |
unknown |
Het |
Naip6 |
T |
A |
13: 100,452,657 (GRCm39) |
I135F |
probably benign |
Het |
Nod2 |
A |
G |
8: 89,390,460 (GRCm39) |
T256A |
probably benign |
Het |
Notch4 |
T |
A |
17: 34,802,473 (GRCm39) |
V1298E |
probably damaging |
Het |
Nudc |
G |
T |
4: 133,261,776 (GRCm39) |
D169E |
possibly damaging |
Het |
Obscn |
A |
T |
11: 58,925,927 (GRCm39) |
I5602N |
probably damaging |
Het |
Or5b114-ps1 |
G |
A |
19: 13,353,208 (GRCm39) |
G294E |
unknown |
Het |
Osbpl10 |
G |
A |
9: 114,896,319 (GRCm39) |
D18N |
probably damaging |
Het |
Pigk |
G |
A |
3: 152,428,188 (GRCm39) |
V72I |
possibly damaging |
Het |
Prl8a6 |
C |
T |
13: 27,621,153 (GRCm39) |
E26K |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,381,553 (GRCm39) |
Y318C |
possibly damaging |
Het |
Rab13 |
A |
G |
3: 90,132,070 (GRCm39) |
D159G |
possibly damaging |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,774,643 (GRCm39) |
H1171R |
probably benign |
Het |
Scn4a |
T |
A |
11: 106,221,134 (GRCm39) |
I842F |
probably benign |
Het |
Scnm1 |
A |
T |
3: 95,041,165 (GRCm39) |
N14K |
possibly damaging |
Het |
Serinc1 |
A |
T |
10: 57,400,457 (GRCm39) |
I137N |
probably benign |
Het |
Slc30a3 |
T |
C |
5: 31,244,169 (GRCm39) |
Q371R |
probably benign |
Het |
Slc30a3 |
A |
C |
5: 31,247,014 (GRCm39) |
M103R |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,857,565 (GRCm39) |
C589S |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,602,656 (GRCm39) |
Y203C |
probably damaging |
Het |
Spty2d1 |
A |
T |
7: 46,648,271 (GRCm39) |
D219E |
probably benign |
Het |
Svep1 |
A |
T |
4: 58,043,991 (GRCm39) |
S3552T |
probably benign |
Het |
Tmem62 |
A |
G |
2: 120,835,224 (GRCm39) |
I516M |
probably benign |
Het |
Trim61 |
A |
T |
8: 65,466,266 (GRCm39) |
S332T |
probably damaging |
Het |
Trmt10b |
A |
C |
4: 45,308,520 (GRCm39) |
T227P |
probably benign |
Het |
Trpc3 |
T |
C |
3: 36,709,258 (GRCm39) |
Q406R |
probably benign |
Het |
Ush2a |
A |
T |
1: 188,485,740 (GRCm39) |
Y2950F |
probably benign |
Het |
Usp32 |
C |
T |
11: 84,930,996 (GRCm39) |
G478D |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,091,758 (GRCm39) |
L527P |
possibly damaging |
Het |
Wdr73 |
A |
G |
7: 80,543,426 (GRCm39) |
V163A |
possibly damaging |
Het |
|
Other mutations in Fmnl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00401:Fmnl2
|
APN |
2 |
53,004,929 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00960:Fmnl2
|
APN |
2 |
53,013,494 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01343:Fmnl2
|
APN |
2 |
53,013,557 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01790:Fmnl2
|
APN |
2 |
53,008,380 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02555:Fmnl2
|
APN |
2 |
53,016,863 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02613:Fmnl2
|
APN |
2 |
52,963,747 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02712:Fmnl2
|
APN |
2 |
52,926,510 (GRCm39) |
splice site |
probably benign |
|
IGL02715:Fmnl2
|
APN |
2 |
52,962,222 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02750:Fmnl2
|
APN |
2 |
52,993,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02832:Fmnl2
|
APN |
2 |
52,748,261 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02975:Fmnl2
|
APN |
2 |
52,991,494 (GRCm39) |
missense |
probably benign |
0.45 |
Beefeater
|
UTSW |
2 |
52,963,666 (GRCm39) |
missense |
unknown |
|
waterloo
|
UTSW |
2 |
52,904,860 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4280001:Fmnl2
|
UTSW |
2 |
53,008,208 (GRCm39) |
missense |
unknown |
|
R0529:Fmnl2
|
UTSW |
2 |
52,932,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R0571:Fmnl2
|
UTSW |
2 |
52,944,503 (GRCm39) |
missense |
probably benign |
0.01 |
R0707:Fmnl2
|
UTSW |
2 |
52,944,498 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1172:Fmnl2
|
UTSW |
2 |
52,962,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R1473:Fmnl2
|
UTSW |
2 |
52,748,219 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1533:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1536:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1537:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1547:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1548:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1549:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1604:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1608:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1615:Fmnl2
|
UTSW |
2 |
53,008,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R1792:Fmnl2
|
UTSW |
2 |
52,932,329 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1965:Fmnl2
|
UTSW |
2 |
53,004,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Fmnl2
|
UTSW |
2 |
52,995,588 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2012:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2065:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2111:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2112:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2427:Fmnl2
|
UTSW |
2 |
53,006,991 (GRCm39) |
missense |
probably damaging |
0.96 |
R4084:Fmnl2
|
UTSW |
2 |
52,997,507 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4095:Fmnl2
|
UTSW |
2 |
52,991,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R4607:Fmnl2
|
UTSW |
2 |
52,993,728 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4608:Fmnl2
|
UTSW |
2 |
52,993,728 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4720:Fmnl2
|
UTSW |
2 |
52,997,552 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4731:Fmnl2
|
UTSW |
2 |
53,007,081 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4947:Fmnl2
|
UTSW |
2 |
52,963,722 (GRCm39) |
missense |
probably benign |
0.32 |
R5015:Fmnl2
|
UTSW |
2 |
52,993,773 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5402:Fmnl2
|
UTSW |
2 |
53,018,794 (GRCm39) |
missense |
probably damaging |
0.97 |
R5731:Fmnl2
|
UTSW |
2 |
53,008,149 (GRCm39) |
splice site |
probably null |
|
R5766:Fmnl2
|
UTSW |
2 |
52,991,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R5945:Fmnl2
|
UTSW |
2 |
53,004,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R6093:Fmnl2
|
UTSW |
2 |
53,004,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R6210:Fmnl2
|
UTSW |
2 |
53,020,457 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6287:Fmnl2
|
UTSW |
2 |
52,904,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R6661:Fmnl2
|
UTSW |
2 |
52,998,297 (GRCm39) |
missense |
probably damaging |
0.98 |
R6967:Fmnl2
|
UTSW |
2 |
52,987,344 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7006:Fmnl2
|
UTSW |
2 |
52,998,266 (GRCm39) |
missense |
probably benign |
0.27 |
R7146:Fmnl2
|
UTSW |
2 |
52,958,552 (GRCm39) |
missense |
|
|
R7173:Fmnl2
|
UTSW |
2 |
53,004,202 (GRCm39) |
missense |
unknown |
|
R7176:Fmnl2
|
UTSW |
2 |
53,004,162 (GRCm39) |
missense |
unknown |
|
R7201:Fmnl2
|
UTSW |
2 |
52,963,666 (GRCm39) |
missense |
unknown |
|
R7470:Fmnl2
|
UTSW |
2 |
52,932,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R7481:Fmnl2
|
UTSW |
2 |
52,998,443 (GRCm39) |
missense |
unknown |
|
R7691:Fmnl2
|
UTSW |
2 |
52,991,510 (GRCm39) |
missense |
unknown |
|
R7699:Fmnl2
|
UTSW |
2 |
52,926,520 (GRCm39) |
missense |
|
|
R7700:Fmnl2
|
UTSW |
2 |
52,926,520 (GRCm39) |
missense |
|
|
R7722:Fmnl2
|
UTSW |
2 |
52,944,479 (GRCm39) |
missense |
|
|
R7775:Fmnl2
|
UTSW |
2 |
52,963,692 (GRCm39) |
missense |
unknown |
|
R7824:Fmnl2
|
UTSW |
2 |
52,963,692 (GRCm39) |
missense |
unknown |
|
R8282:Fmnl2
|
UTSW |
2 |
52,997,678 (GRCm39) |
critical splice donor site |
probably null |
|
R8774:Fmnl2
|
UTSW |
2 |
52,932,321 (GRCm39) |
missense |
|
|
R8774-TAIL:Fmnl2
|
UTSW |
2 |
52,932,321 (GRCm39) |
missense |
|
|
R8816:Fmnl2
|
UTSW |
2 |
53,004,214 (GRCm39) |
missense |
unknown |
|
R8832:Fmnl2
|
UTSW |
2 |
52,944,584 (GRCm39) |
missense |
|
|
R8868:Fmnl2
|
UTSW |
2 |
53,016,077 (GRCm39) |
missense |
unknown |
|
R8990:Fmnl2
|
UTSW |
2 |
53,016,971 (GRCm39) |
missense |
unknown |
|
R9412:Fmnl2
|
UTSW |
2 |
53,007,016 (GRCm39) |
missense |
unknown |
|
R9502:Fmnl2
|
UTSW |
2 |
52,998,312 (GRCm39) |
missense |
unknown |
|
R9532:Fmnl2
|
UTSW |
2 |
53,006,941 (GRCm39) |
missense |
unknown |
|
R9602:Fmnl2
|
UTSW |
2 |
53,013,587 (GRCm39) |
critical splice donor site |
probably null |
|
R9760:Fmnl2
|
UTSW |
2 |
52,944,527 (GRCm39) |
missense |
|
|
Z1188:Fmnl2
|
UTSW |
2 |
53,004,883 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTCCCGAATGTCTGAGTGCG -3'
(R):5'- GGGCATCTTACCTGCTTCAG -3'
Sequencing Primer
(F):5'- GAGTGCGGGTTCTCTCTCCAC -3'
(R):5'- GGCATCTTACCTGCTTCAGATGTG -3'
|
Posted On |
2019-06-26 |