Incidental Mutation 'R0571:Fmnl2'
ID |
46433 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl2
|
Ensembl Gene |
ENSMUSG00000036053 |
Gene Name |
formin-like 2 |
Synonyms |
man, 5430425K04Rik |
MMRRC Submission |
038762-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0571 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
52747872-53023816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 52944503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 161
(T161S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049483]
[ENSMUST00000050719]
[ENSMUST00000090952]
[ENSMUST00000127122]
[ENSMUST00000155586]
|
AlphaFold |
A2APV2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049483
AA Change: T161S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000047260 Gene: ENSMUSG00000036053 AA Change: T161S
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 benign
Transcript: ENSMUST00000050719
AA Change: T161S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000057084 Gene: ENSMUSG00000036053 AA Change: T161S
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: T161S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000088472 Gene: ENSMUSG00000036053 AA Change: T161S
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: T161S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000118658 Gene: ENSMUSG00000036053 AA Change: T161S
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 |
probably benign
Transcript: ENSMUST00000155586
AA Change: T161S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000117822 Gene: ENSMUSG00000036053 AA Change: T161S
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
131 |
2e-33 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.7%
|
Validation Efficiency |
100% (71/71) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd4 |
C |
T |
14: 54,500,706 (GRCm39) |
T165I |
possibly damaging |
Het |
Acsl5 |
A |
G |
19: 55,277,343 (GRCm39) |
|
probably benign |
Het |
Actl6b |
C |
A |
5: 137,565,046 (GRCm39) |
|
probably benign |
Het |
Atg13 |
T |
C |
2: 91,509,063 (GRCm39) |
|
probably benign |
Het |
Cabyr |
A |
G |
18: 12,883,909 (GRCm39) |
E132G |
probably damaging |
Het |
Cadps2 |
C |
T |
6: 23,583,411 (GRCm39) |
V389I |
probably damaging |
Het |
Capn2 |
C |
T |
1: 182,298,325 (GRCm39) |
V647I |
probably benign |
Het |
Card10 |
G |
T |
15: 78,671,601 (GRCm39) |
P621Q |
possibly damaging |
Het |
Catsperb |
C |
G |
12: 101,569,033 (GRCm39) |
H902D |
possibly damaging |
Het |
Cers3 |
A |
G |
7: 66,435,805 (GRCm39) |
M255V |
possibly damaging |
Het |
Cfh |
T |
C |
1: 140,030,071 (GRCm39) |
|
probably null |
Het |
Chd3 |
A |
C |
11: 69,252,495 (GRCm39) |
|
probably null |
Het |
Chpf2 |
G |
T |
5: 24,795,425 (GRCm39) |
R316L |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,713,550 (GRCm39) |
N694Y |
probably damaging |
Het |
Cplane1 |
A |
G |
15: 8,289,277 (GRCm39) |
D2909G |
unknown |
Het |
Ctbp2 |
G |
A |
7: 132,616,534 (GRCm39) |
L44F |
probably damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,381,102 (GRCm39) |
M1365V |
probably benign |
Het |
D130052B06Rik |
G |
A |
11: 33,573,922 (GRCm39) |
R173H |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,421,203 (GRCm39) |
F406L |
probably damaging |
Het |
Ddx43 |
T |
A |
9: 78,321,145 (GRCm39) |
N384K |
possibly damaging |
Het |
Drd5 |
G |
A |
5: 38,477,270 (GRCm39) |
V88M |
probably damaging |
Het |
Eefsec |
A |
T |
6: 88,274,881 (GRCm39) |
F361Y |
probably benign |
Het |
Epb41 |
T |
C |
4: 131,717,215 (GRCm39) |
D313G |
probably damaging |
Het |
Etl4 |
T |
C |
2: 20,748,580 (GRCm39) |
M104T |
probably damaging |
Het |
Fabp7 |
A |
T |
10: 57,661,637 (GRCm39) |
T37S |
probably benign |
Het |
Fam186b |
T |
C |
15: 99,184,834 (GRCm39) |
T30A |
probably benign |
Het |
Fam83d |
G |
A |
2: 158,627,611 (GRCm39) |
W433* |
probably null |
Het |
Ghsr |
C |
T |
3: 27,426,165 (GRCm39) |
R74C |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,040,722 (GRCm39) |
|
probably benign |
Het |
Hamp2 |
A |
G |
7: 30,623,511 (GRCm39) |
L17P |
possibly damaging |
Het |
Heatr1 |
C |
A |
13: 12,445,121 (GRCm39) |
S1581R |
probably damaging |
Het |
Hpf1 |
T |
C |
8: 61,353,147 (GRCm39) |
V176A |
probably benign |
Het |
Hydin |
T |
A |
8: 111,240,735 (GRCm39) |
|
probably null |
Het |
Ighg2c |
G |
A |
12: 113,252,382 (GRCm39) |
Q57* |
probably null |
Het |
Itgb4 |
A |
G |
11: 115,870,594 (GRCm39) |
N141S |
possibly damaging |
Het |
Kif13b |
G |
T |
14: 64,988,977 (GRCm39) |
R786L |
probably damaging |
Het |
Lhx3 |
C |
A |
2: 26,091,136 (GRCm39) |
W391L |
probably damaging |
Het |
Map1s |
T |
A |
8: 71,365,551 (GRCm39) |
V152D |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,865,834 (GRCm39) |
M608T |
probably benign |
Het |
Mb21d2 |
G |
A |
16: 28,748,324 (GRCm39) |
A31V |
probably benign |
Het |
Mfn1 |
T |
C |
3: 32,615,621 (GRCm39) |
I328T |
probably damaging |
Het |
Mif-ps9 |
G |
A |
19: 56,743,675 (GRCm39) |
|
noncoding transcript |
Het |
Myh4 |
A |
T |
11: 67,141,157 (GRCm39) |
I740F |
possibly damaging |
Het |
Neo1 |
A |
G |
9: 58,893,069 (GRCm39) |
V191A |
probably benign |
Het |
Nfatc4 |
T |
C |
14: 56,067,485 (GRCm39) |
V565A |
probably damaging |
Het |
Nrxn2 |
G |
C |
19: 6,523,563 (GRCm39) |
E525D |
probably damaging |
Het |
Or12k8 |
T |
C |
2: 36,975,346 (GRCm39) |
H138R |
probably benign |
Het |
Pcdhb12 |
A |
T |
18: 37,570,261 (GRCm39) |
D469V |
probably damaging |
Het |
Pcdhb6 |
G |
T |
18: 37,468,167 (GRCm39) |
V363L |
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,808,957 (GRCm39) |
T78A |
probably benign |
Het |
Primpol |
T |
G |
8: 47,034,674 (GRCm39) |
D418A |
probably damaging |
Het |
Rbm12b1 |
G |
A |
4: 12,146,248 (GRCm39) |
S740N |
probably benign |
Het |
Rpe65 |
T |
C |
3: 159,305,986 (GRCm39) |
L15P |
probably damaging |
Het |
Rxrb |
CGCGGCGGCGGCGGCGGCGGC |
CGCGGCGGCGGCGGCGGC |
17: 34,251,106 (GRCm39) |
|
probably benign |
Het |
Sectm1a |
A |
G |
11: 120,959,928 (GRCm39) |
|
probably benign |
Het |
Sft2d1 |
C |
A |
17: 8,545,782 (GRCm39) |
|
probably benign |
Het |
Slc22a18 |
A |
G |
7: 143,045,598 (GRCm39) |
|
probably benign |
Het |
Slu7 |
G |
A |
11: 43,332,405 (GRCm39) |
|
probably null |
Het |
Smc4 |
T |
C |
3: 68,931,622 (GRCm39) |
V572A |
probably damaging |
Het |
Spire2 |
T |
A |
8: 124,080,855 (GRCm39) |
I33N |
probably damaging |
Het |
Tbck |
T |
A |
3: 132,458,403 (GRCm39) |
C678S |
probably damaging |
Het |
Tnrc6b |
T |
C |
15: 80,797,539 (GRCm39) |
V1362A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,570,326 (GRCm39) |
K25110E |
possibly damaging |
Het |
Ugt2b35 |
A |
G |
5: 87,148,793 (GRCm39) |
S15G |
possibly damaging |
Het |
Upf3a |
T |
A |
8: 13,842,184 (GRCm39) |
I200K |
probably damaging |
Het |
Vill |
G |
C |
9: 118,899,701 (GRCm39) |
G295A |
possibly damaging |
Het |
Vmn1r191 |
A |
T |
13: 22,363,217 (GRCm39) |
V179D |
probably damaging |
Het |
Vmn2r74 |
T |
C |
7: 85,601,629 (GRCm39) |
T670A |
probably damaging |
Het |
Zfp169 |
T |
C |
13: 48,643,166 (GRCm39) |
T654A |
possibly damaging |
Het |
Zfp646 |
A |
G |
7: 127,481,138 (GRCm39) |
E1105G |
probably damaging |
Het |
Zyg11b |
A |
T |
4: 108,117,239 (GRCm39) |
Y334N |
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 |
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 |
|
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'- TGCCAGACCCAGTGTTTGTAATCC -3'
(R):5'- AGAAGAGGACAGATGATCCTGCCAC -3'
Sequencing Primer
(F):5'- CTGAGACCGCAGAAATTGTTATGC -3'
(R):5'- CTCCAAAGCATCTGATTAAGGC -3'
|
Posted On |
2013-06-11 |