Incidental Mutation 'IGL02750:Fmnl2'
| ID |
306256 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fmnl2
|
| Ensembl Gene |
ENSMUSG00000036053 |
| Gene Name |
formin-like 2 |
| Synonyms |
man, 5430425K04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02750
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
52747872-53023816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52993709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 368
(I368T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049483]
[ENSMUST00000050719]
[ENSMUST00000090952]
[ENSMUST00000127122]
[ENSMUST00000155586]
|
| AlphaFold |
A2APV2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049483
AA Change: I368T
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: I368T
| 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: I368T
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: I368T
| 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 |
possibly damaging
Transcript: ENSMUST00000090952
AA Change: I368T
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: I368T
| 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 |
possibly damaging
Transcript: ENSMUST00000127122
AA Change: I368T
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: I368T
| 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: I368T
|
| SMART Domains |
Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: I368T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FH2
|
1 |
131 |
2e-33 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
T |
C |
9: 14,460,087 (GRCm39) |
K884R |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,329 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
C |
A |
2: 59,799,002 (GRCm39) |
S374I |
possibly damaging |
Het |
| Brd4 |
G |
A |
17: 32,417,353 (GRCm39) |
|
probably benign |
Het |
| Cd3g |
C |
A |
9: 44,882,608 (GRCm39) |
|
probably benign |
Het |
| Ckmt1 |
C |
T |
2: 121,194,096 (GRCm39) |
|
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,132,673 (GRCm39) |
|
probably null |
Het |
| Dkkl1 |
C |
T |
7: 44,859,536 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
G |
A |
2: 24,753,881 (GRCm39) |
T161I |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,780,629 (GRCm39) |
|
probably benign |
Het |
| Gabra5 |
G |
T |
7: 57,157,739 (GRCm39) |
S25Y |
probably benign |
Het |
| Gemin7 |
C |
T |
7: 19,299,344 (GRCm39) |
V84M |
probably null |
Het |
| Gm17654 |
A |
G |
14: 43,815,656 (GRCm39) |
|
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,599,356 (GRCm39) |
F186S |
probably damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,731 (GRCm39) |
H663R |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,275,684 (GRCm39) |
I581F |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,854,127 (GRCm39) |
|
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,585,782 (GRCm39) |
|
probably benign |
Het |
| Ints4 |
T |
A |
7: 97,166,964 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
T |
C |
4: 129,555,170 (GRCm39) |
N20D |
probably damaging |
Het |
| Krtap29-1 |
T |
C |
11: 99,869,510 (GRCm39) |
S124G |
probably benign |
Het |
| Krtap4-16 |
C |
A |
11: 99,742,106 (GRCm39) |
R98L |
possibly damaging |
Het |
| Lrrc28 |
T |
C |
7: 67,181,431 (GRCm39) |
D268G |
probably damaging |
Het |
| Mcm6 |
T |
A |
1: 128,271,209 (GRCm39) |
Q470L |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,181,067 (GRCm39) |
H1180R |
probably benign |
Het |
| Nxpe3 |
C |
A |
16: 55,680,738 (GRCm39) |
V285L |
probably benign |
Het |
| Or10al2 |
T |
A |
17: 37,983,500 (GRCm39) |
C195* |
probably null |
Het |
| Or14a260 |
T |
A |
7: 85,984,752 (GRCm39) |
N284I |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,633 (GRCm39) |
R290G |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,967,269 (GRCm39) |
|
probably benign |
Het |
| Pnkp |
A |
G |
7: 44,509,611 (GRCm39) |
|
probably benign |
Het |
| Pou4f2 |
A |
T |
8: 79,161,692 (GRCm39) |
F304I |
probably damaging |
Het |
| Rita1 |
G |
A |
5: 120,747,716 (GRCm39) |
T194M |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,415,588 (GRCm39) |
T150A |
possibly damaging |
Het |
| Sema3b |
T |
C |
9: 107,480,363 (GRCm39) |
T168A |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,396,559 (GRCm39) |
M1205L |
unknown |
Het |
| Sox13 |
A |
C |
1: 133,311,534 (GRCm39) |
I566S |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 56,074,587 (GRCm39) |
T209A |
possibly damaging |
Het |
| Tonsl |
G |
T |
15: 76,517,589 (GRCm39) |
P710Q |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,628,221 (GRCm39) |
H1018R |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,280,208 (GRCm39) |
M647K |
probably benign |
Het |
| Ubr7 |
A |
T |
12: 102,737,537 (GRCm39) |
T395S |
possibly damaging |
Het |
| Uri1 |
G |
A |
7: 37,666,906 (GRCm39) |
R176* |
probably null |
Het |
| Vmn1r188 |
A |
T |
13: 22,272,900 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,616,608 (GRCm39) |
|
probably benign |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,823 (GRCm39) |
C586F |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,802,851 (GRCm39) |
W62R |
probably benign |
Het |
| Zfp24 |
A |
T |
18: 24,150,410 (GRCm39) |
S167T |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,060,236 (GRCm39) |
K1254R |
probably null |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation