Incidental Mutation 'R5607:Fmn2'
| ID |
439318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmn2
|
| Ensembl Gene |
ENSMUSG00000028354 |
| Gene Name |
formin 2 |
| Synonyms |
|
| MMRRC Submission |
043271-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.816)
|
| Stock # |
R5607 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
174329391-174650295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 174437377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 1116
(C1116Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030039]
|
| AlphaFold |
Q9JL04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030039
AA Change: C1116Y
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030039
Gene: ENSMUSG00000028354
AA Change: C1116Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
334 |
N/A |
INTRINSIC |
|
Blast:FH2
|
353 |
577 |
2e-97 |
BLAST |
|
low complexity region
|
604 |
616 |
N/A |
INTRINSIC |
|
coiled coil region
|
645 |
681 |
N/A |
INTRINSIC |
|
Blast:FH2
|
710 |
788 |
2e-14 |
BLAST |
|
low complexity region
|
796 |
831 |
N/A |
INTRINSIC |
|
Pfam:Drf_FH1
|
942 |
1048 |
3.1e-16 |
PFAM |
|
low complexity region
|
1117 |
1131 |
N/A |
INTRINSIC |
|
FH2
|
1139 |
1543 |
1.29e-85 |
SMART |
|
PDB:2YLE|B
|
1550 |
1578 |
4e-11 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191971
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195300
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000195621
AA Change: C1Y
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.8%
|
| Validation Efficiency |
96% (54/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the formin homology protein family. The encoded protein is thought to have essential roles in organization of the actin cytoskeleton and in cell polarity. Mutations in this gene have been associated with mental retardation autosomal recessive 47 (MRT47). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Female mice homozygous for a knock-out allele display polyploid embryo formation, recurrent pregnancy loss, hypofertility, and inadequate nursing behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,663,886 (GRCm39) |
G1118W |
probably damaging |
Het |
| Ajap1 |
T |
A |
4: 153,516,661 (GRCm39) |
T227S |
possibly damaging |
Het |
| Ankmy1 |
A |
G |
1: 92,804,740 (GRCm39) |
F851S |
probably damaging |
Het |
| Blvrb |
C |
T |
7: 27,158,894 (GRCm39) |
P98L |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,563,283 (GRCm39) |
M220I |
possibly damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,086 (GRCm39) |
N1027I |
probably benign |
Het |
| Cacng4 |
A |
T |
11: 107,625,610 (GRCm39) |
V327E |
probably damaging |
Het |
| Casp1 |
T |
C |
9: 5,303,143 (GRCm39) |
V199A |
probably damaging |
Het |
| Cdh13 |
A |
T |
8: 119,484,213 (GRCm39) |
D158V |
probably benign |
Het |
| Cenpe |
C |
A |
3: 134,940,837 (GRCm39) |
S662* |
probably null |
Het |
| Ctnna1 |
A |
G |
18: 35,382,795 (GRCm39) |
D647G |
probably benign |
Het |
| Dennd5a |
C |
A |
7: 109,518,630 (GRCm39) |
E480* |
probably null |
Het |
| Exoc6 |
T |
A |
19: 37,566,977 (GRCm39) |
V258D |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| H2-Aa |
T |
C |
17: 34,502,816 (GRCm39) |
T117A |
possibly damaging |
Het |
| Ktn1 |
TTGTTGTCTTTGTGTT |
TTGTT |
14: 47,971,554 (GRCm39) |
|
probably benign |
Het |
| Lig1 |
C |
A |
7: 13,039,933 (GRCm39) |
T715N |
probably damaging |
Het |
| Lrrc31 |
C |
A |
3: 30,743,994 (GRCm39) |
|
probably null |
Het |
| Mcm6 |
T |
C |
1: 128,283,326 (GRCm39) |
T60A |
probably damaging |
Het |
| Mex3c |
T |
A |
18: 73,723,014 (GRCm39) |
M369K |
possibly damaging |
Het |
| Mmp14 |
T |
C |
14: 54,676,869 (GRCm39) |
Y428H |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,294,329 (GRCm39) |
D1028G |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,771,227 (GRCm39) |
V933A |
probably damaging |
Het |
| Nepn |
A |
T |
10: 52,277,233 (GRCm39) |
D323V |
probably benign |
Het |
| Nrf1 |
C |
T |
6: 30,126,245 (GRCm39) |
A150V |
probably damaging |
Het |
| Nxpe5 |
A |
G |
5: 138,238,033 (GRCm39) |
T199A |
probably benign |
Het |
| Obscn |
T |
G |
11: 59,013,674 (GRCm39) |
K1150Q |
probably benign |
Het |
| Or12j5 |
A |
C |
7: 140,084,318 (GRCm39) |
V18G |
probably benign |
Het |
| Or52s1b |
T |
C |
7: 102,822,056 (GRCm39) |
T263A |
probably damaging |
Het |
| Or52z12 |
G |
A |
7: 103,233,506 (GRCm39) |
W92* |
probably null |
Het |
| Or7a38 |
A |
G |
10: 78,752,933 (GRCm39) |
I86M |
possibly damaging |
Het |
| Or7e170 |
T |
A |
9: 19,795,272 (GRCm39) |
M110L |
probably benign |
Het |
| Otop1 |
G |
A |
5: 38,451,848 (GRCm39) |
G184S |
possibly damaging |
Het |
| Pkp2 |
G |
T |
16: 16,078,239 (GRCm39) |
D494Y |
probably damaging |
Het |
| Pop5 |
G |
A |
5: 115,378,260 (GRCm39) |
R68Q |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,800,223 (GRCm39) |
D518G |
probably benign |
Het |
| Preb |
G |
T |
5: 31,117,307 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
A |
G |
3: 36,235,114 (GRCm39) |
V292A |
possibly damaging |
Het |
| Rag1 |
G |
A |
2: 101,474,137 (GRCm39) |
T335I |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,596,309 (GRCm39) |
V617E |
probably damaging |
Het |
| Sf3a3 |
A |
T |
4: 124,608,746 (GRCm39) |
D20V |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,631,312 (GRCm39) |
N649D |
probably benign |
Het |
| Smarcal1 |
A |
G |
1: 72,625,372 (GRCm39) |
D173G |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,718,985 (GRCm39) |
L914P |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,005,246 (GRCm39) |
S796T |
possibly damaging |
Het |
| Tex14 |
A |
G |
11: 87,413,404 (GRCm39) |
T1052A |
probably benign |
Het |
| Tspan1 |
A |
G |
4: 116,021,277 (GRCm39) |
V109A |
possibly damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,637,305 (GRCm39) |
V51A |
possibly damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,995,353 (GRCm39) |
V419A |
probably benign |
Het |
| Ubr2 |
G |
T |
17: 47,245,126 (GRCm39) |
C1633* |
probably null |
Het |
| Uggt2 |
C |
T |
14: 119,326,611 (GRCm39) |
G200D |
possibly damaging |
Het |
| Vmn2r25 |
T |
C |
6: 123,805,318 (GRCm39) |
E513G |
possibly damaging |
Het |
| Zscan22 |
G |
A |
7: 12,640,919 (GRCm39) |
G388S |
probably damaging |
Het |
|
| Other mutations in Fmn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Fmn2
|
APN |
1 |
174,330,885 (GRCm39) |
missense |
unknown |
|
|
IGL01085:Fmn2
|
APN |
1 |
174,523,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01784:Fmn2
|
APN |
1 |
174,329,994 (GRCm39) |
missense |
unknown |
|
|
IGL02095:Fmn2
|
APN |
1 |
174,330,167 (GRCm39) |
missense |
unknown |
|
|
IGL02330:Fmn2
|
APN |
1 |
174,437,511 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02552:Fmn2
|
APN |
1 |
174,523,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02835:Fmn2
|
UTSW |
1 |
174,409,625 (GRCm39) |
missense |
unknown |
|
|
PIT4498001:Fmn2
|
UTSW |
1 |
174,440,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4677001:Fmn2
|
UTSW |
1 |
174,474,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Fmn2
|
UTSW |
1 |
174,618,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Fmn2
|
UTSW |
1 |
174,436,015 (GRCm39) |
unclassified |
probably benign |
|
|
R0062:Fmn2
|
UTSW |
1 |
174,436,015 (GRCm39) |
unclassified |
probably benign |
|
|
R0306:Fmn2
|
UTSW |
1 |
174,437,050 (GRCm39) |
unclassified |
probably benign |
|
|
R0325:Fmn2
|
UTSW |
1 |
174,437,520 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0403:Fmn2
|
UTSW |
1 |
174,521,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Fmn2
|
UTSW |
1 |
174,409,525 (GRCm39) |
missense |
unknown |
|
|
R0898:Fmn2
|
UTSW |
1 |
174,331,026 (GRCm39) |
missense |
unknown |
|
|
R1202:Fmn2
|
UTSW |
1 |
174,440,101 (GRCm39) |
nonsense |
probably null |
|
|
R1719:Fmn2
|
UTSW |
1 |
174,436,024 (GRCm39) |
unclassified |
probably benign |
|
|
R1763:Fmn2
|
UTSW |
1 |
174,329,832 (GRCm39) |
missense |
unknown |
|
|
R1771:Fmn2
|
UTSW |
1 |
174,436,342 (GRCm39) |
unclassified |
probably benign |
|
|
R1777:Fmn2
|
UTSW |
1 |
174,409,488 (GRCm39) |
missense |
unknown |
|
|
R1831:Fmn2
|
UTSW |
1 |
174,437,511 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2259:Fmn2
|
UTSW |
1 |
174,330,498 (GRCm39) |
missense |
unknown |
|
|
R2960:Fmn2
|
UTSW |
1 |
174,437,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3545:Fmn2
|
UTSW |
1 |
174,330,192 (GRCm39) |
missense |
unknown |
|
|
R3840:Fmn2
|
UTSW |
1 |
174,409,599 (GRCm39) |
frame shift |
probably null |
|
|
R4207:Fmn2
|
UTSW |
1 |
174,409,521 (GRCm39) |
missense |
unknown |
|
|
R4679:Fmn2
|
UTSW |
1 |
174,330,728 (GRCm39) |
missense |
unknown |
|
|
R4779:Fmn2
|
UTSW |
1 |
174,437,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Fmn2
|
UTSW |
1 |
174,409,527 (GRCm39) |
missense |
unknown |
|
|
R4926:Fmn2
|
UTSW |
1 |
174,329,981 (GRCm39) |
missense |
unknown |
|
|
R5007:Fmn2
|
UTSW |
1 |
174,571,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5247:Fmn2
|
UTSW |
1 |
174,648,794 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5324:Fmn2
|
UTSW |
1 |
174,436,446 (GRCm39) |
unclassified |
probably benign |
|
|
R5353:Fmn2
|
UTSW |
1 |
174,330,572 (GRCm39) |
missense |
unknown |
|
|
R5420:Fmn2
|
UTSW |
1 |
174,526,344 (GRCm39) |
nonsense |
probably null |
|
|
R5668:Fmn2
|
UTSW |
1 |
174,409,603 (GRCm39) |
missense |
unknown |
|
|
R5982:Fmn2
|
UTSW |
1 |
174,330,019 (GRCm39) |
missense |
unknown |
|
|
R6148:Fmn2
|
UTSW |
1 |
174,494,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6324:Fmn2
|
UTSW |
1 |
174,440,119 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6466:Fmn2
|
UTSW |
1 |
174,437,149 (GRCm39) |
unclassified |
probably benign |
|
|
R6647:Fmn2
|
UTSW |
1 |
174,420,670 (GRCm39) |
missense |
unknown |
|
|
R6835:Fmn2
|
UTSW |
1 |
174,527,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Fmn2
|
UTSW |
1 |
174,436,769 (GRCm39) |
unclassified |
probably benign |
|
|
R7340:Fmn2
|
UTSW |
1 |
174,436,769 (GRCm39) |
unclassified |
probably benign |
|
|
R7378:Fmn2
|
UTSW |
1 |
174,436,769 (GRCm39) |
unclassified |
probably benign |
|
|
R7457:Fmn2
|
UTSW |
1 |
174,331,303 (GRCm39) |
splice site |
probably null |
|
|
R7474:Fmn2
|
UTSW |
1 |
174,436,769 (GRCm39) |
unclassified |
probably benign |
|
|
R7564:Fmn2
|
UTSW |
1 |
174,437,140 (GRCm39) |
missense |
unknown |
|
|
R7582:Fmn2
|
UTSW |
1 |
174,526,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Fmn2
|
UTSW |
1 |
174,494,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7832:Fmn2
|
UTSW |
1 |
174,436,769 (GRCm39) |
unclassified |
probably benign |
|
|
R8035:Fmn2
|
UTSW |
1 |
174,547,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8203:Fmn2
|
UTSW |
1 |
174,436,769 (GRCm39) |
unclassified |
probably benign |
|
|
R8343:Fmn2
|
UTSW |
1 |
174,436,769 (GRCm39) |
unclassified |
probably benign |
|
|
R8371:Fmn2
|
UTSW |
1 |
174,437,173 (GRCm39) |
missense |
unknown |
|
|
R8377:Fmn2
|
UTSW |
1 |
174,436,011 (GRCm39) |
nonsense |
probably null |
|
|
R8543:Fmn2
|
UTSW |
1 |
174,436,769 (GRCm39) |
unclassified |
probably benign |
|
|
R8724:Fmn2
|
UTSW |
1 |
174,436,769 (GRCm39) |
unclassified |
probably benign |
|
|
R8726:Fmn2
|
UTSW |
1 |
174,437,404 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8891:Fmn2
|
UTSW |
1 |
174,436,769 (GRCm39) |
unclassified |
probably benign |
|
|
R9074:Fmn2
|
UTSW |
1 |
174,436,198 (GRCm39) |
missense |
unknown |
|
|
R9167:Fmn2
|
UTSW |
1 |
174,331,056 (GRCm39) |
missense |
unknown |
|
|
R9489:Fmn2
|
UTSW |
1 |
174,436,194 (GRCm39) |
nonsense |
probably null |
|
|
R9598:Fmn2
|
UTSW |
1 |
174,436,308 (GRCm39) |
missense |
unknown |
|
|
R9605:Fmn2
|
UTSW |
1 |
174,436,194 (GRCm39) |
nonsense |
probably null |
|
|
R9698:Fmn2
|
UTSW |
1 |
174,364,739 (GRCm39) |
missense |
unknown |
|
|
RF010:Fmn2
|
UTSW |
1 |
174,409,581 (GRCm39) |
missense |
unknown |
|
|
Z1176:Fmn2
|
UTSW |
1 |
174,435,960 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTTCCAGGAGTGGGAATAC -3'
(R):5'- AAGGTCCAAGCTTGCTTTTG -3'
Sequencing Primer
(F):5'- TGGATCAGGCATACCCCCTC -3'
(R):5'- CCAAGCTTGCTTTTGGGTTAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation