Incidental Mutation 'R5954:Fmnl3'
| ID |
471073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmnl3
|
| Ensembl Gene |
ENSMUSG00000023008 |
| Gene Name |
formin-like 3 |
| Synonyms |
2700073B04Rik, Wbp3 |
| MMRRC Submission |
044143-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.772)
|
| Stock # |
R5954 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99215106-99268363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99223791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 302
(R302W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081224]
[ENSMUST00000088233]
[ENSMUST00000120633]
|
| AlphaFold |
Q6ZPF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081224
AA Change: R251W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: R251W
| Domain | Start | End | E-Value | Type |
|---|
|
Drf_GBD
|
26 |
227 |
2.99e-88 |
SMART |
|
Drf_FH3
|
230 |
421 |
6.1e-71 |
SMART |
|
low complexity region
|
448 |
497 |
N/A |
INTRINSIC |
|
FH2
|
510 |
944 |
9.85e-141 |
SMART |
|
low complexity region
|
960 |
975 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088233
AA Change: R302W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: R302W
| Domain | Start | End | E-Value | Type |
|---|
|
Drf_GBD
|
26 |
278 |
3.91e-92 |
SMART |
|
Drf_FH3
|
281 |
472 |
6.1e-71 |
SMART |
|
low complexity region
|
499 |
548 |
N/A |
INTRINSIC |
|
FH2
|
561 |
995 |
9.85e-141 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120633
AA Change: R302W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: R302W
| Domain | Start | End | E-Value | Type |
|---|
|
Drf_GBD
|
26 |
278 |
3.91e-92 |
SMART |
|
Drf_FH3
|
281 |
472 |
6.1e-71 |
SMART |
|
low complexity region
|
499 |
548 |
N/A |
INTRINSIC |
|
FH2
|
561 |
995 |
9.85e-141 |
SMART |
|
low complexity region
|
1011 |
1026 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140368
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,616,390 (GRCm39) |
I944T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,791,510 (GRCm39) |
T823A |
probably benign |
Het |
| Ankrd42 |
C |
G |
7: 92,273,175 (GRCm39) |
|
probably null |
Het |
| Anks4b |
T |
A |
7: 119,781,396 (GRCm39) |
N142K |
possibly damaging |
Het |
| Armc5 |
A |
G |
7: 127,841,444 (GRCm39) |
E484G |
probably benign |
Het |
| B4galnt3 |
A |
G |
6: 120,202,149 (GRCm39) |
F118L |
possibly damaging |
Het |
| Bbs12 |
C |
T |
3: 37,374,151 (GRCm39) |
L200F |
possibly damaging |
Het |
| Cacna1h |
A |
G |
17: 25,602,175 (GRCm39) |
F1555S |
probably damaging |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
A |
C |
2: 160,807,747 (GRCm39) |
H1822Q |
probably benign |
Het |
| Chdh |
C |
T |
14: 29,753,138 (GRCm39) |
R16C |
possibly damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,221 (GRCm39) |
D431G |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,148,983 (GRCm39) |
R1487Q |
probably damaging |
Het |
| Farp1 |
T |
A |
14: 121,460,079 (GRCm39) |
V116D |
probably damaging |
Het |
| Fbxo24 |
T |
A |
5: 137,617,943 (GRCm39) |
T274S |
probably damaging |
Het |
| Gatad2b |
T |
C |
3: 90,258,748 (GRCm39) |
L257P |
probably damaging |
Het |
| Gm20402 |
C |
T |
3: 52,176,311 (GRCm39) |
P30L |
probably damaging |
Het |
| Gm7932 |
C |
T |
6: 48,839,793 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch8 |
A |
T |
11: 102,371,767 (GRCm39) |
D590E |
unknown |
Het |
| Herc1 |
T |
G |
9: 66,358,774 (GRCm39) |
|
probably benign |
Het |
| Hsd3b2 |
T |
A |
3: 98,618,875 (GRCm39) |
I357F |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,157,396 (GRCm39) |
Y78C |
probably damaging |
Het |
| Itga8 |
C |
A |
2: 12,137,297 (GRCm39) |
A23S |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,599,724 (GRCm39) |
V451A |
possibly damaging |
Het |
| Knstrn |
A |
G |
2: 118,661,436 (GRCm39) |
|
probably benign |
Het |
| Med23 |
A |
G |
10: 24,746,381 (GRCm39) |
|
probably benign |
Het |
| Mefv |
A |
G |
16: 3,533,579 (GRCm39) |
Y231H |
probably benign |
Het |
| Or4d10 |
A |
T |
19: 12,051,447 (GRCm39) |
I183N |
possibly damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,624 (GRCm39) |
I266F |
probably benign |
Het |
| Or5p69 |
T |
A |
7: 107,966,808 (GRCm39) |
I37N |
probably damaging |
Het |
| Or8g21 |
A |
G |
9: 38,906,711 (GRCm39) |
S7P |
probably damaging |
Het |
| Pak5 |
G |
T |
2: 135,958,383 (GRCm39) |
T235K |
probably benign |
Het |
| Plppr3 |
G |
T |
10: 79,701,960 (GRCm39) |
P294Q |
probably benign |
Het |
| Prepl |
A |
G |
17: 85,372,077 (GRCm39) |
F725L |
probably benign |
Het |
| Ptchd3 |
A |
T |
11: 121,727,413 (GRCm39) |
|
probably benign |
Het |
| Rprd2 |
T |
C |
3: 95,672,175 (GRCm39) |
E1076G |
probably damaging |
Het |
| Sarm1 |
C |
A |
11: 78,381,428 (GRCm39) |
E352* |
probably null |
Het |
| Sccpdh |
T |
A |
1: 179,508,153 (GRCm39) |
H14Q |
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,990,234 (GRCm39) |
I661V |
probably benign |
Het |
| Septin3 |
T |
C |
15: 82,174,628 (GRCm39) |
F140L |
probably damaging |
Het |
| Spag6 |
G |
T |
2: 18,715,417 (GRCm39) |
Q65H |
probably damaging |
Het |
| Tnni3 |
C |
T |
7: 4,522,539 (GRCm39) |
R137H |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,201 (GRCm39) |
S742G |
probably benign |
Het |
| Ucn3 |
T |
C |
13: 3,991,413 (GRCm39) |
I80V |
probably benign |
Het |
| Ulk2 |
A |
T |
11: 61,694,622 (GRCm39) |
|
probably benign |
Het |
| Uncx |
C |
T |
5: 139,533,384 (GRCm39) |
S483L |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,155,143 (GRCm39) |
V550A |
probably damaging |
Het |
| Zfp697 |
C |
A |
3: 98,335,909 (GRCm39) |
T558K |
probably damaging |
Het |
| Zfp790 |
G |
T |
7: 29,528,929 (GRCm39) |
G538V |
probably damaging |
Het |
|
| Other mutations in Fmnl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00648:Fmnl3
|
APN |
15 |
99,220,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00672:Fmnl3
|
APN |
15 |
99,223,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00727:Fmnl3
|
APN |
15 |
99,220,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00754:Fmnl3
|
APN |
15 |
99,220,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00927:Fmnl3
|
APN |
15 |
99,235,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02376:Fmnl3
|
APN |
15 |
99,216,844 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02607:Fmnl3
|
APN |
15 |
99,222,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03323:Fmnl3
|
APN |
15 |
99,219,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
C9142:Fmnl3
|
UTSW |
15 |
99,235,508 (GRCm39) |
splice site |
probably null |
|
|
PIT4280001:Fmnl3
|
UTSW |
15 |
99,219,134 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0003:Fmnl3
|
UTSW |
15 |
99,219,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0003:Fmnl3
|
UTSW |
15 |
99,219,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0116:Fmnl3
|
UTSW |
15 |
99,220,619 (GRCm39) |
splice site |
probably benign |
|
|
R0117:Fmnl3
|
UTSW |
15 |
99,220,619 (GRCm39) |
splice site |
probably benign |
|
|
R0137:Fmnl3
|
UTSW |
15 |
99,220,619 (GRCm39) |
splice site |
probably benign |
|
|
R0138:Fmnl3
|
UTSW |
15 |
99,220,619 (GRCm39) |
splice site |
probably benign |
|
|
R0701:Fmnl3
|
UTSW |
15 |
99,219,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2338:Fmnl3
|
UTSW |
15 |
99,268,108 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3729:Fmnl3
|
UTSW |
15 |
99,219,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4707:Fmnl3
|
UTSW |
15 |
99,221,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5346:Fmnl3
|
UTSW |
15 |
99,229,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Fmnl3
|
UTSW |
15 |
99,219,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5916:Fmnl3
|
UTSW |
15 |
99,219,709 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5951:Fmnl3
|
UTSW |
15 |
99,223,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Fmnl3
|
UTSW |
15 |
99,223,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:Fmnl3
|
UTSW |
15 |
99,235,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Fmnl3
|
UTSW |
15 |
99,223,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Fmnl3
|
UTSW |
15 |
99,219,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7423:Fmnl3
|
UTSW |
15 |
99,227,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7952:Fmnl3
|
UTSW |
15 |
99,220,518 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7977:Fmnl3
|
UTSW |
15 |
99,225,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7987:Fmnl3
|
UTSW |
15 |
99,225,979 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8749:Fmnl3
|
UTSW |
15 |
99,219,322 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9397:Fmnl3
|
UTSW |
15 |
99,225,938 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9598:Fmnl3
|
UTSW |
15 |
99,223,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0009:Fmnl3
|
UTSW |
15 |
99,220,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0010:Fmnl3
|
UTSW |
15 |
99,220,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Fmnl3
|
UTSW |
15 |
99,220,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0012:Fmnl3
|
UTSW |
15 |
99,220,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0014:Fmnl3
|
UTSW |
15 |
99,220,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:Fmnl3
|
UTSW |
15 |
99,220,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Fmnl3
|
UTSW |
15 |
99,220,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Fmnl3
|
UTSW |
15 |
99,223,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Fmnl3
|
UTSW |
15 |
99,220,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Fmnl3
|
UTSW |
15 |
99,220,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0033:Fmnl3
|
UTSW |
15 |
99,220,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Fmnl3
|
UTSW |
15 |
99,217,919 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
X0064:Fmnl3
|
UTSW |
15 |
99,220,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Fmnl3
|
UTSW |
15 |
99,220,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGAGTGCACCACAATGTTG -3'
(R):5'- TCTGGTGTCCAAAATGGCAC -3'
Sequencing Primer
(F):5'- GTGCACCACAATGTTGATGAACTG -3'
(R):5'- TGGCCTGAAACTATGGCAGTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation