Incidental Mutation 'R6093:Fmnl2'
ID |
486024 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl2
|
Ensembl Gene |
ENSMUSG00000036053 |
Gene Name |
formin-like 2 |
Synonyms |
man, 5430425K04Rik |
MMRRC Submission |
044250-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6093 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
52747872-53023816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53004880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 658
(D658G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049483]
[ENSMUST00000050719]
[ENSMUST00000090952]
[ENSMUST00000127122]
[ENSMUST00000155586]
|
AlphaFold |
A2APV2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049483
AA Change: D658G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047260 Gene: ENSMUSG00000036053 AA Change: D658G
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 damaging
Transcript: ENSMUST00000050719
AA Change: D624G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000057084 Gene: ENSMUSG00000036053 AA Change: D624G
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 damaging
Transcript: ENSMUST00000090952
AA Change: D658G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000088472 Gene: ENSMUSG00000036053 AA Change: D658G
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 damaging
Transcript: ENSMUST00000127122
AA Change: D658G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118658 Gene: ENSMUSG00000036053 AA Change: D658G
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: D658G
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000117822 Gene: ENSMUSG00000036053 AA Change: D658G
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
131 |
2e-33 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
G |
2: 68,490,214 (GRCm39) |
|
probably benign |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Adgrl3 |
A |
C |
5: 81,794,369 (GRCm39) |
R531S |
probably benign |
Het |
Ahctf1 |
T |
C |
1: 179,590,517 (GRCm39) |
D1252G |
probably benign |
Het |
Ano1 |
T |
C |
7: 144,165,114 (GRCm39) |
N648S |
possibly damaging |
Het |
Antxr2 |
C |
A |
5: 98,178,319 (GRCm39) |
L30F |
probably damaging |
Het |
Apol9a |
T |
A |
15: 77,288,620 (GRCm39) |
N249I |
probably benign |
Het |
Atp2a1 |
A |
G |
7: 126,046,093 (GRCm39) |
V977A |
probably damaging |
Het |
Clmn |
T |
C |
12: 104,738,215 (GRCm39) |
T968A |
probably benign |
Het |
Clstn2 |
A |
T |
9: 97,340,263 (GRCm39) |
I703N |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,475,522 (GRCm39) |
T1051A |
probably benign |
Het |
Csde1 |
A |
G |
3: 102,960,218 (GRCm39) |
Y615C |
probably damaging |
Het |
Dcaf17 |
A |
G |
2: 70,912,356 (GRCm39) |
K314E |
possibly damaging |
Het |
Dnah10 |
A |
T |
5: 124,830,238 (GRCm39) |
I711F |
probably benign |
Het |
Duox1 |
G |
T |
2: 122,177,755 (GRCm39) |
R1513L |
probably benign |
Het |
Exph5 |
A |
G |
9: 53,283,917 (GRCm39) |
T333A |
possibly damaging |
Het |
Gcgr |
T |
A |
11: 120,428,947 (GRCm39) |
L395Q |
probably damaging |
Het |
Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Greb1 |
C |
T |
12: 16,734,487 (GRCm39) |
C1501Y |
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,765,471 (GRCm39) |
V1533A |
probably damaging |
Het |
Kcnc3 |
A |
C |
7: 44,240,932 (GRCm39) |
D208A |
probably benign |
Het |
Kctd14 |
A |
G |
7: 97,104,160 (GRCm39) |
|
probably benign |
Het |
Mcm5 |
C |
A |
8: 75,836,374 (GRCm39) |
D13E |
probably benign |
Het |
Med23 |
A |
G |
10: 24,754,341 (GRCm39) |
I221V |
probably benign |
Het |
Msantd5f6 |
T |
C |
4: 73,320,258 (GRCm39) |
I174V |
probably benign |
Het |
Myo19 |
T |
C |
11: 84,776,535 (GRCm39) |
F64L |
probably damaging |
Het |
Ncapd3 |
T |
G |
9: 26,967,454 (GRCm39) |
S597A |
probably damaging |
Het |
Neb |
A |
T |
2: 52,141,782 (GRCm39) |
Y72* |
probably null |
Het |
Nrip1 |
C |
T |
16: 76,091,652 (GRCm39) |
|
probably benign |
Het |
Or5h26 |
T |
A |
16: 58,988,330 (GRCm39) |
M59L |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,668,958 (GRCm39) |
D328E |
probably damaging |
Het |
Phyh |
G |
T |
2: 4,923,896 (GRCm39) |
A6S |
possibly damaging |
Het |
Pole |
A |
T |
5: 110,459,956 (GRCm39) |
Q1120L |
probably benign |
Het |
Rbmxl1 |
T |
C |
8: 79,232,572 (GRCm39) |
Y257C |
probably damaging |
Het |
Smurf2 |
A |
T |
11: 106,759,449 (GRCm39) |
H69Q |
possibly damaging |
Het |
Tmem167b |
A |
T |
3: 108,469,439 (GRCm39) |
M1K |
probably null |
Het |
Tmod4 |
A |
T |
3: 95,032,929 (GRCm39) |
T22S |
probably benign |
Het |
Triml1 |
T |
C |
8: 43,593,755 (GRCm39) |
I149M |
probably benign |
Het |
Vmn2r108 |
T |
C |
17: 20,701,402 (GRCm39) |
T33A |
probably benign |
Het |
Vmn2r76 |
T |
A |
7: 85,877,469 (GRCm39) |
R525* |
probably null |
Het |
Zfp109 |
A |
T |
7: 23,928,558 (GRCm39) |
W292R |
probably benign |
Het |
Zfp292 |
C |
T |
4: 34,811,902 (GRCm39) |
A381T |
probably damaging |
Het |
Zfp791 |
C |
T |
8: 85,840,135 (GRCm39) |
|
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 |
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 |
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'- ACTTCTGACTGGGAGATAGGG -3'
(R):5'- AGGATGCTGGAAACTTACACATG -3'
Sequencing Primer
(F):5'- TTCTGACTGGGAGATAGGGGAACTC -3'
(R):5'- GCTGGAAACTTACACATGAATAGC -3'
|
Posted On |
2017-08-16 |