Incidental Mutation 'R6266:Fmn1'
| ID |
506991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmn1
|
| Ensembl Gene |
ENSMUSG00000044042 |
| Gene Name |
formin 1 |
| Synonyms |
formin-1, Fmn |
| MMRRC Submission |
044378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R6266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
113158081-113547112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113426683 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1133
(N1133K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081349]
[ENSMUST00000099576]
[ENSMUST00000102547]
[ENSMUST00000161731]
|
| AlphaFold |
Q05860 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081349
AA Change: N1005K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: N1005K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FH2
|
25 |
641 |
N/A |
BLAST |
|
SCOP:d1jvr__
|
668 |
699 |
2e-3 |
SMART |
|
FH2
|
757 |
1162 |
1.16e-137 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099576
AA Change: N1231K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: N1231K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
173 |
N/A |
INTRINSIC |
|
Blast:FH2
|
352 |
861 |
N/A |
BLAST |
|
SCOP:d1jvr__
|
894 |
925 |
2e-3 |
SMART |
|
FH2
|
983 |
1388 |
1.16e-137 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102547
AA Change: N1231K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: N1231K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
173 |
N/A |
INTRINSIC |
|
Blast:FH2
|
352 |
861 |
N/A |
BLAST |
|
SCOP:d1jvr__
|
894 |
925 |
2e-3 |
SMART |
|
FH2
|
983 |
1424 |
1.03e-134 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161731
AA Change: N1133K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: N1133K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
159 |
173 |
N/A |
INTRINSIC |
|
Blast:FH2
|
352 |
619 |
1e-62 |
BLAST |
|
Blast:FH2
|
625 |
765 |
3e-53 |
BLAST |
|
SCOP:d1jvr__
|
796 |
827 |
2e-3 |
SMART |
|
FH2
|
885 |
1290 |
1.16e-137 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for spontaneous, irradiation-induced, and transgene-insertional mutations show severe syndactyly and oligodactyly of the feet, abnormal long bones (including radius-ulna fusions), and reduced or absent kidneys. Many mutants survive and breed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,320,206 (GRCm39) |
T295A |
probably benign |
Het |
| Aldh2 |
C |
A |
5: 121,706,997 (GRCm39) |
V217L |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,123,844 (GRCm39) |
R392C |
probably damaging |
Het |
| Aurkaip1 |
T |
G |
4: 155,916,977 (GRCm39) |
L75R |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,149,688 (GRCm39) |
K640N |
probably benign |
Het |
| Brap |
A |
T |
5: 121,823,328 (GRCm39) |
T487S |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,601,632 (GRCm39) |
P276L |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,361,503 (GRCm39) |
E343G |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,738,647 (GRCm39) |
S1097G |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,514 (GRCm39) |
V53D |
probably damaging |
Het |
| Ddx3y |
G |
A |
Y: 1,266,635 (GRCm39) |
T274I |
probably damaging |
Homo |
| Dnah5 |
T |
A |
15: 28,335,773 (GRCm39) |
F2246L |
possibly damaging |
Het |
| Dock3 |
T |
A |
9: 106,841,952 (GRCm39) |
H959L |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,350,442 (GRCm39) |
S406P |
probably damaging |
Het |
| Efcab8 |
T |
C |
2: 153,625,688 (GRCm39) |
L116P |
probably damaging |
Het |
| Efnb2 |
T |
C |
8: 8,710,524 (GRCm39) |
I31V |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,549,911 (GRCm39) |
L271Q |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,287,864 (GRCm39) |
S1219P |
probably benign |
Het |
| Gm7298 |
A |
T |
6: 121,759,663 (GRCm39) |
R1187S |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,080,414 (GRCm39) |
I136V |
probably benign |
Het |
| Hyal2 |
A |
G |
9: 107,447,914 (GRCm39) |
N189S |
probably benign |
Het |
| Jmjd1c |
C |
T |
10: 67,085,439 (GRCm39) |
P2410S |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,933,089 (GRCm39) |
D231G |
probably damaging |
Het |
| Lilra5 |
T |
A |
7: 4,244,927 (GRCm39) |
S233T |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,641,340 (GRCm39) |
F508S |
probably damaging |
Het |
| Marchf4 |
T |
C |
1: 72,491,647 (GRCm39) |
Y208C |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,566,140 (GRCm39) |
R85G |
probably damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,201,476 (GRCm39) |
C45* |
probably null |
Het |
| Or10ag2 |
T |
A |
2: 87,249,350 (GRCm39) |
S319R |
probably benign |
Het |
| Or2n1e |
A |
G |
17: 38,586,039 (GRCm39) |
I126V |
probably benign |
Het |
| Ppp2r5d |
G |
T |
17: 46,996,629 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
A |
T |
2: 53,046,639 (GRCm39) |
S324T |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,199 (GRCm39) |
D94G |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,336,767 (GRCm39) |
T140A |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
| Rbp3 |
G |
A |
14: 33,676,418 (GRCm39) |
R122H |
probably benign |
Het |
| Relch |
T |
G |
1: 105,659,007 (GRCm39) |
|
probably null |
Het |
| Rrp8 |
T |
C |
7: 105,385,596 (GRCm39) |
E3G |
probably damaging |
Het |
| Sacm1l |
T |
C |
9: 123,371,485 (GRCm39) |
S37P |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,085,099 (GRCm39) |
R939G |
possibly damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,051,814 (GRCm39) |
S608P |
possibly damaging |
Het |
| Sntg1 |
T |
C |
1: 8,624,953 (GRCm39) |
Q281R |
possibly damaging |
Het |
| Spata31d1e |
C |
T |
13: 59,890,126 (GRCm39) |
V147I |
probably benign |
Het |
| Tefm |
A |
G |
11: 80,028,814 (GRCm39) |
L194P |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,547 (GRCm39) |
V145E |
probably damaging |
Het |
| Tmem231 |
T |
A |
8: 112,641,897 (GRCm39) |
E219V |
probably null |
Het |
| Tmx3 |
T |
A |
18: 90,555,334 (GRCm39) |
|
probably null |
Het |
| Tns3 |
G |
A |
11: 8,442,987 (GRCm39) |
P459S |
probably damaging |
Het |
| Trav13d-1 |
T |
A |
14: 53,089,220 (GRCm39) |
S76R |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,681,210 (GRCm39) |
N254S |
probably damaging |
Het |
| Tsen34 |
A |
G |
7: 3,696,984 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,959,064 (GRCm39) |
V701A |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,159,411 (GRCm39) |
S513P |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,141,176 (GRCm39) |
S392T |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,899,007 (GRCm39) |
C450S |
probably benign |
Het |
| Zfp128 |
T |
C |
7: 12,624,897 (GRCm39) |
Y422H |
possibly damaging |
Het |
| Zkscan7 |
C |
T |
9: 122,724,299 (GRCm39) |
Q423* |
probably null |
Het |
|
| Other mutations in Fmn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Fmn1
|
APN |
2 |
113,274,812 (GRCm39) |
intron |
probably benign |
|
|
IGL01520:Fmn1
|
APN |
2 |
113,274,713 (GRCm39) |
intron |
probably benign |
|
|
IGL02039:Fmn1
|
APN |
2 |
113,195,425 (GRCm39) |
missense |
unknown |
|
|
IGL02222:Fmn1
|
APN |
2 |
113,423,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02238:Fmn1
|
APN |
2 |
113,412,470 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02373:Fmn1
|
APN |
2 |
113,194,471 (GRCm39) |
missense |
unknown |
|
|
IGL02490:Fmn1
|
APN |
2 |
113,359,817 (GRCm39) |
splice site |
probably benign |
|
|
IGL02506:Fmn1
|
APN |
2 |
113,355,640 (GRCm39) |
missense |
unknown |
|
|
IGL02684:Fmn1
|
APN |
2 |
113,355,622 (GRCm39) |
missense |
unknown |
|
|
IGL03008:Fmn1
|
APN |
2 |
113,195,445 (GRCm39) |
missense |
unknown |
|
|
IGL03058:Fmn1
|
APN |
2 |
113,272,159 (GRCm39) |
intron |
probably benign |
|
|
IGL03076:Fmn1
|
APN |
2 |
113,414,437 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4304:Fmn1
|
UTSW |
2 |
113,356,128 (GRCm39) |
small insertion |
probably benign |
|
|
FR4304:Fmn1
|
UTSW |
2 |
113,356,119 (GRCm39) |
small insertion |
probably benign |
|
|
FR4342:Fmn1
|
UTSW |
2 |
113,356,128 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Fmn1
|
UTSW |
2 |
113,356,119 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Fmn1
|
UTSW |
2 |
113,356,118 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Fmn1
|
UTSW |
2 |
113,356,129 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Fmn1
|
UTSW |
2 |
113,356,126 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Fmn1
|
UTSW |
2 |
113,356,123 (GRCm39) |
small insertion |
probably benign |
|
|
R0349:Fmn1
|
UTSW |
2 |
113,196,141 (GRCm39) |
missense |
unknown |
|
|
R0452:Fmn1
|
UTSW |
2 |
113,467,124 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0529:Fmn1
|
UTSW |
2 |
113,538,198 (GRCm39) |
splice site |
probably benign |
|
|
R1215:Fmn1
|
UTSW |
2 |
113,523,375 (GRCm39) |
nonsense |
probably null |
|
|
R1471:Fmn1
|
UTSW |
2 |
113,523,439 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1489:Fmn1
|
UTSW |
2 |
113,195,557 (GRCm39) |
missense |
unknown |
|
|
R1491:Fmn1
|
UTSW |
2 |
113,426,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1551:Fmn1
|
UTSW |
2 |
113,356,207 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1558:Fmn1
|
UTSW |
2 |
113,523,463 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1588:Fmn1
|
UTSW |
2 |
113,196,043 (GRCm39) |
missense |
unknown |
|
|
R1602:Fmn1
|
UTSW |
2 |
113,355,968 (GRCm39) |
missense |
unknown |
|
|
R1690:Fmn1
|
UTSW |
2 |
113,355,827 (GRCm39) |
missense |
unknown |
|
|
R1772:Fmn1
|
UTSW |
2 |
113,195,700 (GRCm39) |
missense |
unknown |
|
|
R1867:Fmn1
|
UTSW |
2 |
113,539,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1923:Fmn1
|
UTSW |
2 |
113,260,066 (GRCm39) |
intron |
probably benign |
|
|
R1941:Fmn1
|
UTSW |
2 |
113,195,488 (GRCm39) |
missense |
unknown |
|
|
R2019:Fmn1
|
UTSW |
2 |
113,194,825 (GRCm39) |
missense |
unknown |
|
|
R2140:Fmn1
|
UTSW |
2 |
113,425,393 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2164:Fmn1
|
UTSW |
2 |
113,195,962 (GRCm39) |
missense |
unknown |
|
|
R2395:Fmn1
|
UTSW |
2 |
113,195,526 (GRCm39) |
missense |
unknown |
|
|
R2999:Fmn1
|
UTSW |
2 |
113,195,439 (GRCm39) |
missense |
unknown |
|
|
R3405:Fmn1
|
UTSW |
2 |
113,194,693 (GRCm39) |
missense |
unknown |
|
|
R3407:Fmn1
|
UTSW |
2 |
113,195,400 (GRCm39) |
missense |
unknown |
|
|
R3771:Fmn1
|
UTSW |
2 |
113,412,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Fmn1
|
UTSW |
2 |
113,412,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Fmn1
|
UTSW |
2 |
113,412,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3777:Fmn1
|
UTSW |
2 |
113,195,467 (GRCm39) |
missense |
unknown |
|
|
R4166:Fmn1
|
UTSW |
2 |
113,467,080 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4477:Fmn1
|
UTSW |
2 |
113,274,744 (GRCm39) |
intron |
probably benign |
|
|
R4614:Fmn1
|
UTSW |
2 |
113,195,494 (GRCm39) |
missense |
unknown |
|
|
R4701:Fmn1
|
UTSW |
2 |
113,414,416 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4867:Fmn1
|
UTSW |
2 |
113,414,465 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5063:Fmn1
|
UTSW |
2 |
113,195,266 (GRCm39) |
missense |
unknown |
|
|
R5224:Fmn1
|
UTSW |
2 |
113,195,470 (GRCm39) |
missense |
unknown |
|
|
R5510:Fmn1
|
UTSW |
2 |
113,426,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6083:Fmn1
|
UTSW |
2 |
113,194,648 (GRCm39) |
missense |
unknown |
|
|
R6234:Fmn1
|
UTSW |
2 |
113,196,000 (GRCm39) |
missense |
unknown |
|
|
R6764:Fmn1
|
UTSW |
2 |
113,355,560 (GRCm39) |
missense |
unknown |
|
|
R7054:Fmn1
|
UTSW |
2 |
113,195,353 (GRCm39) |
missense |
unknown |
|
|
R7311:Fmn1
|
UTSW |
2 |
113,356,025 (GRCm39) |
missense |
unknown |
|
|
R7439:Fmn1
|
UTSW |
2 |
113,271,956 (GRCm39) |
missense |
unknown |
|
|
R7440:Fmn1
|
UTSW |
2 |
113,271,956 (GRCm39) |
missense |
unknown |
|
|
R7441:Fmn1
|
UTSW |
2 |
113,271,956 (GRCm39) |
missense |
unknown |
|
|
R7444:Fmn1
|
UTSW |
2 |
113,271,956 (GRCm39) |
missense |
unknown |
|
|
R7461:Fmn1
|
UTSW |
2 |
113,194,416 (GRCm39) |
missense |
unknown |
|
|
R7526:Fmn1
|
UTSW |
2 |
113,518,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7540:Fmn1
|
UTSW |
2 |
113,359,655 (GRCm39) |
splice site |
probably null |
|
|
R7576:Fmn1
|
UTSW |
2 |
113,195,353 (GRCm39) |
missense |
unknown |
|
|
R7657:Fmn1
|
UTSW |
2 |
113,355,538 (GRCm39) |
missense |
unknown |
|
|
R7669:Fmn1
|
UTSW |
2 |
113,195,822 (GRCm39) |
missense |
unknown |
|
|
R7713:Fmn1
|
UTSW |
2 |
113,356,159 (GRCm39) |
missense |
unknown |
|
|
R7841:Fmn1
|
UTSW |
2 |
113,359,810 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7953:Fmn1
|
UTSW |
2 |
113,426,689 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7959:Fmn1
|
UTSW |
2 |
113,195,967 (GRCm39) |
missense |
unknown |
|
|
R8041:Fmn1
|
UTSW |
2 |
113,194,939 (GRCm39) |
missense |
unknown |
|
|
R8152:Fmn1
|
UTSW |
2 |
113,196,037 (GRCm39) |
missense |
unknown |
|
|
R8203:Fmn1
|
UTSW |
2 |
113,355,620 (GRCm39) |
missense |
unknown |
|
|
R8318:Fmn1
|
UTSW |
2 |
113,195,502 (GRCm39) |
missense |
unknown |
|
|
R8356:Fmn1
|
UTSW |
2 |
113,195,385 (GRCm39) |
missense |
unknown |
|
|
R8456:Fmn1
|
UTSW |
2 |
113,195,385 (GRCm39) |
missense |
unknown |
|
|
R8698:Fmn1
|
UTSW |
2 |
113,260,152 (GRCm39) |
missense |
unknown |
|
|
R8861:Fmn1
|
UTSW |
2 |
113,195,149 (GRCm39) |
missense |
unknown |
|
|
R8907:Fmn1
|
UTSW |
2 |
113,355,914 (GRCm39) |
missense |
unknown |
|
|
R9147:Fmn1
|
UTSW |
2 |
113,271,973 (GRCm39) |
missense |
unknown |
|
|
R9148:Fmn1
|
UTSW |
2 |
113,271,973 (GRCm39) |
missense |
unknown |
|
|
R9536:Fmn1
|
UTSW |
2 |
113,309,262 (GRCm39) |
missense |
unknown |
|
|
R9574:Fmn1
|
UTSW |
2 |
113,425,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Fmn1
|
UTSW |
2 |
113,194,470 (GRCm39) |
missense |
unknown |
|
|
RF003:Fmn1
|
UTSW |
2 |
113,356,131 (GRCm39) |
small insertion |
probably benign |
|
|
Z1088:Fmn1
|
UTSW |
2 |
113,272,270 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGATTGTCTCCTGGATTACCTG -3'
(R):5'- GTGTTGTACTGGAGGAAAAGCC -3'
Sequencing Primer
(F):5'- CCCTCACAAAAGATGATGTAGTGTC -3'
(R):5'- TTGTACTGGAGGAAAAGCCATCCC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation