Incidental Mutation 'IGL02975:Fmnl2'
| ID |
406347 |
| 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 # |
IGL02975
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
52747872-53023816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 52991494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 336
(F336L)
|
| 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: F336L
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: F336L
| 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: F336L
PolyPhen 2
Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: F336L
| 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: F336L
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: F336L
| 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: F336L
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: F336L
| 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: F336L
|
| SMART Domains |
Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: F336L
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,381,784 (GRCm39) |
D326G |
possibly damaging |
Het |
| Abtb3 |
A |
G |
10: 85,467,207 (GRCm39) |
I721V |
probably benign |
Het |
| Ago4 |
C |
T |
4: 126,406,312 (GRCm39) |
|
probably null |
Het |
| Ank |
A |
G |
15: 27,467,087 (GRCm39) |
|
probably benign |
Het |
| Ankmy2 |
C |
A |
12: 36,243,773 (GRCm39) |
S329R |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,107,550 (GRCm39) |
E608G |
probably damaging |
Het |
| Car1 |
G |
A |
3: 14,842,882 (GRCm39) |
L48F |
probably benign |
Het |
| Cct8 |
A |
G |
16: 87,283,118 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,390,277 (GRCm39) |
T154S |
probably damaging |
Het |
| Clca4a |
A |
C |
3: 144,669,530 (GRCm39) |
I340M |
possibly damaging |
Het |
| Cnksr3 |
C |
T |
10: 7,088,354 (GRCm39) |
|
probably null |
Het |
| Cntrob |
T |
C |
11: 69,210,199 (GRCm39) |
T265A |
possibly damaging |
Het |
| Ddx5 |
T |
C |
11: 106,672,711 (GRCm39) |
I605V |
probably benign |
Het |
| Eif3i |
A |
G |
4: 129,489,105 (GRCm39) |
Y70H |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,506,811 (GRCm39) |
|
probably benign |
Het |
| Fah |
A |
T |
7: 84,250,287 (GRCm39) |
S90T |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,161,020 (GRCm39) |
M3237L |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,215,760 (GRCm39) |
Y417H |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,899,153 (GRCm39) |
R847G |
probably damaging |
Het |
| Gm17509 |
T |
C |
13: 117,357,308 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
T |
A |
1: 166,311,449 (GRCm39) |
Y470F |
possibly damaging |
Het |
| Gm7461 |
T |
C |
8: 4,727,847 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch4 |
A |
T |
3: 87,961,743 (GRCm39) |
N134I |
possibly damaging |
Het |
| Grina |
A |
G |
15: 76,133,185 (GRCm39) |
Y251C |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,194,666 (GRCm39) |
D654G |
probably benign |
Het |
| Hyal5 |
A |
G |
6: 24,891,451 (GRCm39) |
T422A |
probably benign |
Het |
| Iars1 |
T |
A |
13: 49,858,325 (GRCm39) |
I377N |
probably damaging |
Het |
| Ints3 |
A |
T |
3: 90,309,144 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
G |
A |
17: 56,682,996 (GRCm39) |
|
probably null |
Het |
| Kyat1 |
A |
G |
2: 30,076,687 (GRCm39) |
S276P |
probably damaging |
Het |
| Lrrc1 |
A |
G |
9: 77,359,929 (GRCm39) |
C288R |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,790,379 (GRCm39) |
M664K |
probably benign |
Het |
| Neb |
A |
T |
2: 52,188,879 (GRCm39) |
I817N |
probably damaging |
Het |
| Nudt6 |
C |
A |
3: 37,473,667 (GRCm39) |
G18V |
probably damaging |
Het |
| Or10a49 |
G |
A |
7: 108,468,062 (GRCm39) |
Q100* |
probably null |
Het |
| Or4k52 |
T |
A |
2: 111,611,266 (GRCm39) |
Y200* |
probably null |
Het |
| Or7a41 |
T |
C |
10: 78,870,867 (GRCm39) |
V79A |
possibly damaging |
Het |
| Pde1c |
A |
G |
6: 56,135,921 (GRCm39) |
I341T |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,812,212 (GRCm39) |
I107V |
probably benign |
Het |
| Pot1b |
G |
A |
17: 55,969,454 (GRCm39) |
|
probably benign |
Het |
| Prkca |
C |
T |
11: 108,231,503 (GRCm39) |
W58* |
probably null |
Het |
| Slc12a9 |
T |
C |
5: 137,320,705 (GRCm39) |
K555R |
probably damaging |
Het |
| Smoc2 |
A |
T |
17: 14,556,872 (GRCm39) |
Q107L |
probably damaging |
Het |
| Sytl1 |
T |
A |
4: 132,988,343 (GRCm39) |
R4S |
probably benign |
Het |
| Tbc1d4 |
A |
G |
14: 101,695,549 (GRCm39) |
L963P |
probably damaging |
Het |
| Tfdp2 |
G |
A |
9: 96,199,989 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
A |
T |
1: 180,788,640 (GRCm39) |
M326L |
probably benign |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,182 (GRCm39) |
L278P |
probably damaging |
Het |
| Wtap |
A |
G |
17: 13,202,398 (GRCm39) |
V11A |
possibly damaging |
Het |
| Zcchc9 |
A |
T |
13: 91,954,172 (GRCm39) |
S28T |
possibly damaging |
Het |
| Zfp12 |
C |
T |
5: 143,229,814 (GRCm39) |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation