Incidental Mutation 'R9602:Fmnl2'
| ID |
723710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmnl2
|
| Ensembl Gene |
ENSMUSG00000036053 |
| Gene Name |
formin-like 2 |
| Synonyms |
man, 5430425K04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9602 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
52747872-53023816 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 53013587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
| 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
|
| SMART Domains |
Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
| 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
|
| SMART Domains |
Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
| 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
|
| SMART Domains |
Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
| 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 null
Transcript: ENSMUST00000155586
|
| SMART Domains |
Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
| 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 |
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,910,261 (GRCm39) |
S125L |
possibly damaging |
Het |
| Abca3 |
T |
C |
17: 24,617,378 (GRCm39) |
V1025A |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,303,402 (GRCm39) |
K175R |
probably damaging |
Het |
| Arhgap39 |
A |
C |
15: 76,610,954 (GRCm39) |
S885R |
probably damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,895,676 (GRCm39) |
Y951H |
probably damaging |
Het |
| Bbs1 |
G |
A |
19: 4,941,083 (GRCm39) |
L544F |
probably damaging |
Het |
| Bcar1 |
C |
T |
8: 112,440,498 (GRCm39) |
E499K |
probably benign |
Het |
| Brinp3 |
C |
T |
1: 146,622,234 (GRCm39) |
T212I |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,868,823 (GRCm39) |
I105F |
probably benign |
Het |
| Cenpp |
T |
C |
13: 49,801,049 (GRCm39) |
E123G |
probably damaging |
Het |
| Col14a1 |
C |
A |
15: 55,351,345 (GRCm39) |
D1557E |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,731,497 (GRCm39) |
N1585K |
probably benign |
Het |
| Cox6a1 |
G |
A |
5: 115,486,934 (GRCm39) |
P26S |
unknown |
Het |
| Epb41l1 |
G |
T |
2: 156,367,068 (GRCm39) |
D646Y |
probably damaging |
Het |
| Fbxw10 |
G |
T |
11: 62,750,782 (GRCm39) |
R455L |
possibly damaging |
Het |
| Gata3 |
T |
A |
2: 9,863,297 (GRCm39) |
I406F |
possibly damaging |
Het |
| Gm14406 |
C |
T |
2: 177,261,028 (GRCm39) |
G417D |
probably damaging |
Het |
| Gpr31b |
C |
T |
17: 13,270,771 (GRCm39) |
G133S |
possibly damaging |
Het |
| Gtf2h1 |
T |
A |
7: 46,456,219 (GRCm39) |
D196E |
possibly damaging |
Het |
| Hcn2 |
A |
G |
10: 79,562,128 (GRCm39) |
I375V |
probably benign |
Het |
| Kctd20 |
T |
C |
17: 29,180,442 (GRCm39) |
M72T |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,205,696 (GRCm39) |
F408L |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,211,850 (GRCm39) |
V921A |
probably damaging |
Het |
| Mn1 |
A |
T |
5: 111,565,449 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
A |
T |
3: 104,708,284 (GRCm39) |
D488E |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,417,211 (GRCm39) |
D3386Y |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,769,269 (GRCm39) |
|
probably null |
Het |
| Nudt7 |
T |
C |
8: 114,878,499 (GRCm39) |
F176L |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,981,385 (GRCm39) |
Y1878H |
probably damaging |
Het |
| Or6c5b |
A |
T |
10: 129,245,802 (GRCm39) |
D189V |
probably damaging |
Het |
| Pabpn1l |
T |
A |
8: 123,347,101 (GRCm39) |
T250S |
probably benign |
Het |
| Prr11 |
C |
T |
11: 86,987,998 (GRCm39) |
D302N |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,218,445 (GRCm39) |
V1121D |
possibly damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,096,448 (GRCm39) |
V215A |
probably benign |
Het |
| Rasa3 |
T |
C |
8: 13,681,844 (GRCm39) |
D35G |
probably benign |
Het |
| Rbm5 |
A |
G |
9: 107,629,152 (GRCm39) |
S348P |
probably benign |
Het |
| Rmdn2 |
G |
A |
17: 79,975,440 (GRCm39) |
G310R |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,353,162 (GRCm39) |
C144* |
probably null |
Het |
| Rreb1 |
T |
C |
13: 38,114,477 (GRCm39) |
I612T |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,071,353 (GRCm39) |
D1181V |
probably damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,609,356 (GRCm39) |
M324K |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc22a6 |
G |
T |
19: 8,598,560 (GRCm39) |
E206* |
probably null |
Het |
| Smg5 |
T |
C |
3: 88,250,214 (GRCm39) |
C109R |
probably damaging |
Het |
| Socs7 |
A |
G |
11: 97,267,837 (GRCm39) |
T323A |
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,183 (GRCm39) |
N1148S |
unknown |
Het |
| Tek |
C |
G |
4: 94,715,968 (GRCm39) |
I463M |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ugt2b34 |
T |
C |
5: 87,054,163 (GRCm39) |
D206G |
probably damaging |
Het |
| Upk3a |
C |
T |
15: 84,905,464 (GRCm39) |
P191L |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,780 (GRCm39) |
L592* |
probably null |
Het |
| Vmn2r82 |
A |
G |
10: 79,214,880 (GRCm39) |
I288V |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,651,189 (GRCm39) |
S168T |
|
Het |
| Wnt5a |
C |
A |
14: 28,240,295 (GRCm39) |
N148K |
probably benign |
Het |
| Yipf5 |
T |
C |
18: 40,345,134 (GRCm39) |
Y82C |
probably damaging |
Het |
| Zfp655 |
T |
A |
5: 145,181,473 (GRCm39) |
C444S |
probably benign |
Het |
| Zpr1 |
A |
G |
9: 46,184,663 (GRCm39) |
N57D |
probably benign |
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 |
|
|
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 |
|
|
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'- ATTTGCCCCACTTCGTGAGG -3'
(R):5'- AGGCCTAAATGCTCTCAGC -3'
Sequencing Primer
(F):5'- TGCCCCACTTCGTGAGGTATAG -3'
(R):5'- AGGCCTAAATGCTCTCAGCCTTAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation