Incidental Mutation 'R7481:Fmnl2'
ID |
579782 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl2
|
Ensembl Gene |
ENSMUSG00000036053 |
Gene Name |
formin-like 2 |
Synonyms |
man, 5430425K04Rik |
MMRRC Submission |
045555-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7481 (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 52998443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 603
(T603A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049483]
[ENSMUST00000050719]
[ENSMUST00000090952]
[ENSMUST00000127122]
[ENSMUST00000155586]
|
AlphaFold |
A2APV2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049483
AA Change: T603A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000047260 Gene: ENSMUSG00000036053 AA Change: T603A
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: T569A
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000057084 Gene: ENSMUSG00000036053 AA Change: T569A
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: T603A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000088472 Gene: ENSMUSG00000036053 AA Change: T603A
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: T603A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000118658 Gene: ENSMUSG00000036053 AA Change: T603A
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: T603A
|
SMART Domains |
Protein: ENSMUSP00000117822 Gene: ENSMUSG00000036053 AA Change: T603A
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
131 |
2e-33 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,494,575 (GRCm39) |
F68S |
unknown |
Het |
Abcb6 |
A |
G |
1: 75,150,248 (GRCm39) |
F637L |
probably damaging |
Het |
Aldh3b3 |
A |
G |
19: 4,014,549 (GRCm39) |
M95V |
probably benign |
Het |
Arhgap45 |
A |
T |
10: 79,858,134 (GRCm39) |
H387L |
possibly damaging |
Het |
Avil |
C |
T |
10: 126,843,460 (GRCm39) |
T130I |
probably benign |
Het |
Bmal2 |
G |
A |
6: 146,720,369 (GRCm39) |
A178T |
not run |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
C3 |
C |
A |
17: 57,527,136 (GRCm39) |
W771L |
probably damaging |
Het |
C6 |
A |
G |
15: 4,844,357 (GRCm39) |
I926M |
|
Het |
Cacna1b |
G |
A |
2: 24,506,874 (GRCm39) |
L1903F |
probably damaging |
Het |
Car3 |
A |
T |
3: 14,928,632 (GRCm39) |
M1L |
probably benign |
Het |
Ccdc175 |
A |
G |
12: 72,202,398 (GRCm39) |
I299T |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,683,066 (GRCm39) |
T502I |
unknown |
Het |
Clec4a1 |
G |
A |
6: 122,904,998 (GRCm39) |
C99Y |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
Dmbt1 |
A |
T |
7: 130,681,241 (GRCm39) |
|
probably null |
Het |
Dop1a |
A |
T |
9: 86,417,985 (GRCm39) |
K1951N |
probably damaging |
Het |
Dpf3 |
A |
C |
12: 83,378,701 (GRCm39) |
L122R |
probably damaging |
Het |
Edem3 |
A |
T |
1: 151,683,973 (GRCm39) |
S687C |
probably damaging |
Het |
Edem3 |
G |
A |
1: 151,683,974 (GRCm39) |
S687N |
possibly damaging |
Het |
Fig4 |
A |
G |
10: 41,106,001 (GRCm39) |
|
probably null |
Het |
Frmd6 |
T |
A |
12: 70,933,829 (GRCm39) |
L249Q |
probably damaging |
Het |
Glrx3 |
T |
C |
7: 137,046,751 (GRCm39) |
C48R |
probably damaging |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Gm6133 |
A |
T |
18: 78,393,008 (GRCm39) |
M1L |
probably benign |
Het |
Gm9195 |
G |
A |
14: 72,720,116 (GRCm39) |
T105I |
probably benign |
Het |
Hk2 |
G |
A |
6: 82,737,150 (GRCm39) |
T54I |
probably benign |
Het |
Jade1 |
G |
A |
3: 41,559,125 (GRCm39) |
G402D |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,720,368 (GRCm39) |
D3873G |
unknown |
Het |
Map6 |
A |
T |
7: 98,918,345 (GRCm39) |
T373S |
possibly damaging |
Het |
Megf9 |
T |
C |
4: 70,351,679 (GRCm39) |
T481A |
probably damaging |
Het |
Mtcl3 |
G |
T |
10: 29,072,519 (GRCm39) |
V604L |
probably damaging |
Het |
Mtus1 |
T |
A |
8: 41,537,652 (GRCm39) |
K21N |
probably damaging |
Het |
Muc5b |
C |
T |
7: 141,414,908 (GRCm39) |
T2618I |
unknown |
Het |
Nbas |
A |
G |
12: 13,406,960 (GRCm39) |
I852M |
probably damaging |
Het |
Or14j1 |
T |
A |
17: 38,146,289 (GRCm39) |
M133K |
probably damaging |
Het |
Or4a70 |
C |
T |
2: 89,324,636 (GRCm39) |
V7I |
probably benign |
Het |
Or5b121 |
A |
T |
19: 13,507,817 (GRCm39) |
Q304L |
probably damaging |
Het |
Or5d39 |
A |
G |
2: 87,980,105 (GRCm39) |
I86T |
probably benign |
Het |
Pank4 |
A |
G |
4: 155,054,495 (GRCm39) |
N156S |
probably damaging |
Het |
Pcdhga8 |
A |
G |
18: 37,860,990 (GRCm39) |
E682G |
probably benign |
Het |
Pde10a |
C |
A |
17: 9,168,262 (GRCm39) |
D312E |
possibly damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,376,307 (GRCm39) |
T990A |
probably benign |
Het |
Rab11fip1 |
T |
C |
8: 27,646,609 (GRCm39) |
T156A |
probably damaging |
Het |
Rhbdd2 |
T |
A |
5: 135,665,031 (GRCm39) |
S121T |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,508,438 (GRCm39) |
R3418S |
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,508,439 (GRCm39) |
R3418M |
possibly damaging |
Het |
Sbno2 |
G |
A |
10: 79,893,333 (GRCm39) |
P1323S |
probably benign |
Het |
Sec24d |
T |
C |
3: 123,144,412 (GRCm39) |
C630R |
probably damaging |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Skp2 |
A |
T |
15: 9,113,905 (GRCm39) |
V371E |
probably damaging |
Het |
Strbp |
A |
T |
2: 37,490,766 (GRCm39) |
S496R |
probably benign |
Het |
Stxbp4 |
G |
A |
11: 90,485,639 (GRCm39) |
T236I |
possibly damaging |
Het |
Terf2 |
C |
T |
8: 107,799,353 (GRCm39) |
|
probably null |
Het |
Thnsl1 |
A |
T |
2: 21,216,599 (GRCm39) |
T118S |
probably benign |
Het |
Tlnrd1 |
A |
T |
7: 83,531,546 (GRCm39) |
V295E |
probably damaging |
Het |
Ttll6 |
A |
G |
11: 96,045,672 (GRCm39) |
T630A |
probably benign |
Het |
Usp9y |
G |
T |
Y: 1,432,180 (GRCm39) |
A435E |
probably benign |
Het |
Vil1 |
A |
C |
1: 74,459,058 (GRCm39) |
R187S |
probably damaging |
Het |
Vmn2r31 |
A |
T |
7: 7,387,579 (GRCm39) |
V664E |
possibly damaging |
Het |
Wdr17 |
T |
C |
8: 55,114,371 (GRCm39) |
I693M |
probably benign |
Het |
Wdr82 |
C |
T |
9: 106,053,865 (GRCm39) |
T72I |
probably damaging |
Het |
Zbtb5 |
A |
G |
4: 44,994,905 (GRCm39) |
S160P |
probably benign |
Het |
Zfat |
G |
A |
15: 68,050,715 (GRCm39) |
Q769* |
probably null |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
Zfp937 |
T |
A |
2: 150,081,266 (GRCm39) |
I432K |
probably benign |
Het |
Zglp1 |
C |
T |
9: 20,973,903 (GRCm39) |
S261N |
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 |
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'- TCATGCTTTATGTGCCCATGAC -3'
(R):5'- GGAATGTCCTTCTAAGGGACATG -3'
Sequencing Primer
(F):5'- TCTTTTCTCCAGCACAAAATGG -3'
(R):5'- GTCCTTCTAAGGGACATGTACAG -3'
|
Posted On |
2019-10-07 |