Incidental Mutation 'R0701:Fmnl3'
| ID |
63029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmnl3
|
| Ensembl Gene |
ENSMUSG00000023008 |
| Gene Name |
formin-like 3 |
| Synonyms |
2700073B04Rik, Wbp3 |
| MMRRC Submission |
038884-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.706)
|
| Stock # |
R0701 (G1)
|
| Quality Score |
179 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99215106-99268363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99219188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 778
(N778S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023745]
[ENSMUST00000081224]
[ENSMUST00000088233]
[ENSMUST00000118287]
[ENSMUST00000120633]
[ENSMUST00000126955]
[ENSMUST00000136980]
[ENSMUST00000145482]
[ENSMUST00000150636]
|
| AlphaFold |
Q6ZPF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023745
|
| SMART Domains |
Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
87 |
N/A |
INTRINSIC |
|
WW
|
93 |
125 |
7.6e-9 |
SMART |
|
WW
|
134 |
166 |
1.75e-8 |
SMART |
|
low complexity region
|
182 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
267 |
N/A |
INTRINSIC |
|
FF
|
276 |
330 |
2.36e-14 |
SMART |
|
FF
|
410 |
470 |
6.94e-3 |
SMART |
|
FF
|
490 |
550 |
1.41e0 |
SMART |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
FF
|
626 |
682 |
3.41e-11 |
SMART |
|
low complexity region
|
693 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
777 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
809 |
825 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081224
AA Change: N727S
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: N727S
| 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: N778S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: N778S
| 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 benign
Transcript: ENSMUST00000118287
|
| SMART Domains |
Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
87 |
N/A |
INTRINSIC |
|
WW
|
93 |
125 |
7.6e-9 |
SMART |
|
WW
|
134 |
166 |
1.75e-8 |
SMART |
|
low complexity region
|
182 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
267 |
N/A |
INTRINSIC |
|
FF
|
276 |
330 |
2.36e-14 |
SMART |
|
FF
|
410 |
470 |
6.94e-3 |
SMART |
|
FF
|
490 |
550 |
1.41e0 |
SMART |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
FF
|
626 |
682 |
3.41e-11 |
SMART |
|
low complexity region
|
694 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
778 |
797 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
866 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120633
AA Change: N778S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: N778S
| 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 |
probably benign
Transcript: ENSMUST00000126955
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134034
|
| SMART Domains |
Protein: ENSMUSP00000120030
Gene: ENSMUSG00000023007
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FF
|
11 |
62 |
2.2e-7 |
PFAM |
|
low complexity region
|
77 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
165 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150641
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136980
|
| SMART Domains |
Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
81 |
N/A |
INTRINSIC |
|
WW
|
87 |
119 |
7.6e-9 |
SMART |
|
WW
|
128 |
160 |
1.75e-8 |
SMART |
|
low complexity region
|
176 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
261 |
N/A |
INTRINSIC |
|
FF
|
270 |
324 |
2.36e-14 |
SMART |
|
FF
|
404 |
464 |
6.94e-3 |
SMART |
|
FF
|
484 |
544 |
1.41e0 |
SMART |
|
FF
|
613 |
669 |
3.41e-11 |
SMART |
|
low complexity region
|
681 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
813 |
N/A |
INTRINSIC |
|
low complexity region
|
832 |
853 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145482
|
| SMART Domains |
Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
87 |
N/A |
INTRINSIC |
|
WW
|
93 |
125 |
7.6e-9 |
SMART |
|
WW
|
134 |
166 |
1.75e-8 |
SMART |
|
low complexity region
|
182 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
267 |
N/A |
INTRINSIC |
|
FF
|
276 |
330 |
2.36e-14 |
SMART |
|
FF
|
410 |
470 |
6.94e-3 |
SMART |
|
FF
|
490 |
550 |
1.41e0 |
SMART |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
FF
|
626 |
682 |
3.41e-11 |
SMART |
|
low complexity region
|
693 |
708 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
829 |
N/A |
INTRINSIC |
|
low complexity region
|
848 |
869 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150636
|
| SMART Domains |
Protein: ENSMUSP00000119295
Gene: ENSMUSG00000023007
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FF
|
1 |
52 |
1.2e-7 |
PFAM |
|
low complexity region
|
67 |
82 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 91.3%
|
| Validation Efficiency |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
A |
G |
2: 163,571,995 (GRCm39) |
V261A |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 15,012,636 (GRCm39) |
V320E |
probably damaging |
Het |
| Arhgef11 |
G |
T |
3: 87,640,766 (GRCm39) |
A1308S |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,877 (GRCm39) |
E473K |
probably damaging |
Het |
| Bsph1 |
G |
T |
7: 13,206,181 (GRCm39) |
C72F |
probably damaging |
Het |
| C2cd2l |
A |
G |
9: 44,227,499 (GRCm39) |
L186P |
probably damaging |
Het |
| C9 |
A |
C |
15: 6,496,902 (GRCm39) |
T200P |
probably damaging |
Het |
| Cald1 |
AAGAGAGAGAGAGAG |
AAGAGAGAGAGAG |
6: 34,723,108 (GRCm39) |
|
probably null |
Het |
| Chd1 |
C |
A |
17: 15,945,693 (GRCm39) |
N72K |
probably benign |
Het |
| Copg1 |
T |
A |
6: 87,871,089 (GRCm39) |
Y268* |
probably null |
Het |
| Csad |
A |
G |
15: 102,087,571 (GRCm39) |
S331P |
probably benign |
Het |
| Ddx31 |
G |
T |
2: 28,748,789 (GRCm39) |
R239L |
probably null |
Het |
| Fat1 |
G |
T |
8: 45,479,590 (GRCm39) |
A2879S |
probably benign |
Het |
| Fig4 |
T |
A |
10: 41,116,508 (GRCm39) |
R628* |
probably null |
Het |
| Gm10912 |
T |
C |
2: 103,896,875 (GRCm39) |
S5P |
probably benign |
Het |
| Haus3 |
G |
A |
5: 34,323,359 (GRCm39) |
T417M |
probably benign |
Het |
| Herc1 |
T |
G |
9: 66,395,232 (GRCm39) |
V4189G |
probably damaging |
Het |
| Hoxb3 |
C |
A |
11: 96,237,074 (GRCm39) |
S384* |
probably null |
Het |
| Ifnar2 |
A |
G |
16: 91,201,117 (GRCm39) |
T453A |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,309,907 (GRCm39) |
T1105A |
probably benign |
Het |
| Kmt2e |
T |
C |
5: 23,678,581 (GRCm39) |
V220A |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,069,905 (GRCm39) |
V37E |
probably benign |
Het |
| Lrrn4 |
G |
A |
2: 132,712,080 (GRCm39) |
T581M |
probably benign |
Het |
| Mcur1 |
T |
C |
13: 43,699,216 (GRCm39) |
Y267C |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,699,263 (GRCm39) |
D1313E |
probably benign |
Het |
| Med13 |
T |
A |
11: 86,197,864 (GRCm39) |
T736S |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,314,677 (GRCm39) |
I503K |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,953,094 (GRCm39) |
F1089L |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,797,655 (GRCm39) |
I221N |
probably damaging |
Het |
| Or4c10 |
A |
G |
2: 89,760,545 (GRCm39) |
T131A |
probably benign |
Het |
| Or4k48 |
C |
T |
2: 111,476,136 (GRCm39) |
V69I |
probably benign |
Het |
| Pdgfd |
A |
T |
9: 6,359,706 (GRCm39) |
D259V |
probably damaging |
Het |
| Pramel22 |
C |
T |
4: 143,383,010 (GRCm39) |
E70K |
possibly damaging |
Het |
| R3hdm1 |
A |
G |
1: 128,109,476 (GRCm39) |
Y309C |
probably damaging |
Het |
| Rab27b |
A |
T |
18: 70,118,270 (GRCm39) |
C216S |
probably damaging |
Het |
| Robo2 |
A |
G |
16: 73,843,762 (GRCm39) |
I151T |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,783,747 (GRCm39) |
D227G |
probably damaging |
Het |
| Sis |
G |
T |
3: 72,848,378 (GRCm39) |
T632K |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,668,941 (GRCm39) |
Y30H |
probably damaging |
Het |
| Stap1 |
T |
C |
5: 86,242,667 (GRCm39) |
|
probably null |
Het |
| Syt16 |
G |
A |
12: 74,281,886 (GRCm39) |
V337I |
probably benign |
Het |
| Taf1c |
A |
T |
8: 120,326,722 (GRCm39) |
I438N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,728,412 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
T |
A |
11: 82,831,031 (GRCm39) |
L797Q |
possibly damaging |
Het |
| Usp6nl |
A |
G |
2: 6,419,829 (GRCm39) |
E144G |
possibly damaging |
Het |
| Wiz |
A |
T |
17: 32,575,415 (GRCm39) |
I907N |
probably damaging |
Het |
| Zap70 |
G |
A |
1: 36,820,258 (GRCm39) |
R513Q |
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 |
|
|
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 |
|
R5954: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'- TCCTGCCAGAAGTTAGCCAGTTCC -3'
(R):5'- AATGCCATCATTGCAGCCTCTGCC -3'
Sequencing Primer
(F):5'- TTCACCGTCAAGGCAATGAAG -3'
(R):5'- CTCCGTCAAGTCCTCACAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation