Incidental Mutation 'R1792:Fmnl2'
ID |
201805 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl2
|
Ensembl Gene |
ENSMUSG00000036053 |
Gene Name |
formin-like 2 |
Synonyms |
man, 5430425K04Rik |
MMRRC Submission |
039822-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1792 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
52747872-53023816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 52932329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 103
(S103T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057084
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049483]
[ENSMUST00000050719]
[ENSMUST00000090952]
[ENSMUST00000127122]
[ENSMUST00000155586]
|
AlphaFold |
A2APV2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049483
AA Change: S103T
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000047260 Gene: ENSMUSG00000036053 AA Change: S103T
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 |
possibly damaging
Transcript: ENSMUST00000050719
AA Change: S103T
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000057084 Gene: ENSMUSG00000036053 AA Change: S103T
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 benign
Transcript: ENSMUST00000090952
AA Change: S103T
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000088472 Gene: ENSMUSG00000036053 AA Change: S103T
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 benign
Transcript: ENSMUST00000127122
AA Change: S103T
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000118658 Gene: ENSMUSG00000036053 AA Change: S103T
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 |
possibly damaging
Transcript: ENSMUST00000155586
AA Change: S103T
PolyPhen 2
Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000117822 Gene: ENSMUSG00000036053 AA Change: S103T
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
131 |
2e-33 |
PFAM |
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.4%
|
Validation Efficiency |
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
C |
T |
11: 110,074,870 (GRCm39) |
V1398I |
probably benign |
Het |
Ackr3 |
A |
T |
1: 90,142,620 (GRCm39) |
N360Y |
probably benign |
Het |
Acr |
T |
G |
15: 89,457,346 (GRCm39) |
M198R |
probably benign |
Het |
Adamts14 |
A |
T |
10: 61,054,277 (GRCm39) |
M585K |
probably benign |
Het |
Adgrb3 |
A |
T |
1: 25,267,552 (GRCm39) |
C853S |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,067,694 (GRCm39) |
S1410R |
probably benign |
Het |
Asprv1 |
T |
A |
6: 86,605,354 (GRCm39) |
F67I |
possibly damaging |
Het |
Atp8b4 |
T |
A |
2: 126,167,214 (GRCm39) |
Y1095F |
probably benign |
Het |
Cadps |
A |
G |
14: 12,449,802 (GRCm38) |
S1136P |
possibly damaging |
Het |
Ccdc57 |
T |
C |
11: 120,788,707 (GRCm39) |
Q380R |
possibly damaging |
Het |
Cdc45 |
A |
T |
16: 18,626,090 (GRCm39) |
D142E |
probably benign |
Het |
Cs |
A |
T |
10: 128,195,948 (GRCm39) |
N386Y |
possibly damaging |
Het |
Dsc3 |
A |
T |
18: 20,120,055 (GRCm39) |
V201E |
probably damaging |
Het |
Dusp26 |
G |
T |
8: 31,581,963 (GRCm39) |
R19L |
probably benign |
Het |
Esyt3 |
C |
A |
9: 99,240,169 (GRCm39) |
E92* |
probably null |
Het |
Ext2 |
T |
C |
2: 93,534,890 (GRCm39) |
N625D |
probably damaging |
Het |
Flvcr2 |
A |
T |
12: 85,793,929 (GRCm39) |
K102* |
probably null |
Het |
Fmo4 |
T |
A |
1: 162,621,859 (GRCm39) |
I451F |
probably benign |
Het |
Gak |
A |
T |
5: 108,733,397 (GRCm39) |
Y47* |
probably null |
Het |
Gbp10 |
A |
T |
5: 105,372,166 (GRCm39) |
L198Q |
probably damaging |
Het |
Gm11559 |
T |
A |
11: 99,755,755 (GRCm39) |
S135T |
unknown |
Het |
Gm14496 |
A |
T |
2: 181,637,946 (GRCm39) |
D340V |
probably benign |
Het |
Grin2a |
T |
C |
16: 9,810,259 (GRCm39) |
T47A |
possibly damaging |
Het |
Gtf2ird1 |
A |
T |
5: 134,395,790 (GRCm39) |
|
probably null |
Het |
Herc4 |
T |
A |
10: 63,081,680 (GRCm39) |
M1K |
probably null |
Het |
Hirip3 |
T |
A |
7: 126,461,792 (GRCm39) |
V29E |
probably damaging |
Het |
Hs3st5 |
A |
G |
10: 36,708,720 (GRCm39) |
D85G |
probably benign |
Het |
Htt |
T |
A |
5: 35,064,543 (GRCm39) |
S2981T |
probably damaging |
Het |
Iho1 |
A |
C |
9: 108,282,111 (GRCm39) |
S526A |
possibly damaging |
Het |
Il20ra |
G |
A |
10: 19,635,384 (GRCm39) |
V542I |
probably damaging |
Het |
Itgb2l |
C |
A |
16: 96,226,282 (GRCm39) |
C603F |
probably damaging |
Het |
Klhl41 |
A |
C |
2: 69,501,146 (GRCm39) |
K202N |
probably benign |
Het |
Lct |
G |
A |
1: 128,255,679 (GRCm39) |
S121F |
possibly damaging |
Het |
Lhx6 |
C |
T |
2: 35,977,387 (GRCm39) |
G355D |
probably damaging |
Het |
Limk2 |
A |
G |
11: 3,308,236 (GRCm39) |
V121A |
probably benign |
Het |
Med1 |
T |
G |
11: 98,048,109 (GRCm39) |
K896Q |
probably damaging |
Het |
Muc6 |
A |
G |
7: 141,214,371 (GRCm39) |
F2789S |
probably benign |
Het |
Nemf |
T |
A |
12: 69,359,343 (GRCm39) |
Y997F |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,367,590 (GRCm39) |
S296P |
probably benign |
Het |
Nrxn1 |
T |
C |
17: 90,896,252 (GRCm39) |
N961D |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,286,743 (GRCm39) |
T163A |
probably benign |
Het |
Or1r1 |
A |
C |
11: 73,874,673 (GRCm39) |
S254A |
probably benign |
Het |
Or6c207 |
A |
T |
10: 129,105,112 (GRCm39) |
F27I |
probably benign |
Het |
Or6y1 |
T |
C |
1: 174,276,303 (GRCm39) |
V38A |
probably benign |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pdk4 |
T |
A |
6: 5,489,166 (GRCm39) |
H247L |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,359,237 (GRCm39) |
V866E |
probably damaging |
Het |
Pla2g4e |
G |
A |
2: 119,998,955 (GRCm39) |
P803L |
probably damaging |
Het |
Pnisr |
T |
C |
4: 21,860,968 (GRCm39) |
V217A |
possibly damaging |
Het |
Pole4 |
G |
A |
6: 82,629,720 (GRCm39) |
P34L |
unknown |
Het |
Pole4 |
G |
T |
6: 82,629,721 (GRCm39) |
P34T |
unknown |
Het |
Ptchd3 |
G |
A |
11: 121,732,377 (GRCm39) |
W422* |
probably null |
Het |
Rab1b |
C |
T |
19: 5,150,513 (GRCm39) |
A167T |
probably benign |
Het |
Rasal1 |
T |
C |
5: 120,802,821 (GRCm39) |
M359T |
probably benign |
Het |
Rexo4 |
T |
C |
2: 26,850,248 (GRCm39) |
N310D |
probably benign |
Het |
Rgma |
C |
T |
7: 73,067,585 (GRCm39) |
T280M |
probably damaging |
Het |
Rnaset2a |
A |
T |
17: 8,364,408 (GRCm39) |
I43N |
probably damaging |
Het |
Rtcb |
A |
T |
10: 85,778,446 (GRCm39) |
V399E |
probably damaging |
Het |
Scd4 |
T |
G |
19: 44,326,013 (GRCm39) |
Y122* |
probably null |
Het |
Sirt6 |
T |
C |
10: 81,462,355 (GRCm39) |
I15V |
possibly damaging |
Het |
Slamf8 |
A |
T |
1: 172,415,526 (GRCm39) |
V104E |
possibly damaging |
Het |
Slc12a4 |
A |
G |
8: 106,678,475 (GRCm39) |
I285T |
possibly damaging |
Het |
Slc25a13 |
G |
A |
6: 6,115,104 (GRCm39) |
A207V |
possibly damaging |
Het |
Slc6a21 |
T |
C |
7: 44,930,155 (GRCm39) |
S185P |
probably benign |
Het |
Smarcc2 |
A |
C |
10: 128,299,740 (GRCm39) |
N135T |
probably damaging |
Het |
Susd6 |
T |
C |
12: 80,921,065 (GRCm39) |
S221P |
probably damaging |
Het |
Syne1 |
C |
T |
10: 4,990,975 (GRCm39) |
G8418D |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,640,559 (GRCm39) |
K193E |
possibly damaging |
Het |
Tbc1d7 |
C |
T |
13: 43,318,853 (GRCm39) |
V95I |
probably benign |
Het |
Tcerg1l |
T |
C |
7: 137,963,595 (GRCm39) |
D225G |
probably benign |
Het |
Tfip11 |
A |
T |
5: 112,477,263 (GRCm39) |
I82F |
possibly damaging |
Het |
Tmem41a |
C |
T |
16: 21,755,731 (GRCm39) |
G192S |
probably null |
Het |
Trrap |
G |
A |
5: 144,790,396 (GRCm39) |
A3619T |
possibly damaging |
Het |
Tspoap1 |
G |
A |
11: 87,656,707 (GRCm39) |
|
probably null |
Het |
Wfdc21 |
T |
C |
11: 83,637,883 (GRCm39) |
S11P |
probably benign |
Het |
Zc2hc1b |
A |
T |
10: 13,044,474 (GRCm39) |
V63E |
probably 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 |
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 |
|
R7182:Fmnl2
|
UTSW |
2 |
52,997,453 (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'- ATTTGTGGGTAGGGGAAATAATCTC -3'
(R):5'- AGACTTCCCTCAGATAATCCTTGG -3'
Sequencing Primer
(F):5'- AAGTAAGTAATTCTCCTTGTCCTTTC -3'
(R):5'- GGTCCTTCGGTAAATATAGAAGCTC -3'
|
Posted On |
2014-06-23 |