Incidental Mutation 'R8749:Fmnl3'
ID |
663732 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl3
|
Ensembl Gene |
ENSMUSG00000023008 |
Gene Name |
formin-like 3 |
Synonyms |
2700073B04Rik, Wbp3 |
MMRRC Submission |
068592-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.706)
|
Stock # |
R8749 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
99215106-99268363 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 99219322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 766
(M766K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085566
(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: M715K
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000079984 Gene: ENSMUSG00000023008 AA Change: M715K
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 |
possibly damaging
Transcript: ENSMUST00000088233
AA Change: M766K
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000085566 Gene: ENSMUSG00000023008 AA Change: M766K
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: M766K
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113094 Gene: ENSMUSG00000023008 AA Change: M766K
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 |
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 |
|
Meta Mutation Damage Score |
0.5203 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
Validation Efficiency |
100% (59/59) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
C |
T |
13: 4,320,155 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,664,725 (GRCm39) |
M888K |
unknown |
Het |
Arhgap23 |
T |
A |
11: 97,391,641 (GRCm39) |
V223E |
probably damaging |
Het |
Atm |
C |
T |
9: 53,410,497 (GRCm39) |
W1028* |
probably null |
Het |
Atp7b |
A |
G |
8: 22,518,334 (GRCm39) |
V168A |
probably damaging |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Caskin1 |
C |
T |
17: 24,723,774 (GRCm39) |
A854V |
probably benign |
Het |
Cdcp1 |
T |
C |
9: 123,019,027 (GRCm39) |
N84S |
probably benign |
Het |
Cdh20 |
T |
A |
1: 110,027,009 (GRCm39) |
I475N |
probably damaging |
Het |
Ciz1 |
A |
T |
2: 32,255,848 (GRCm39) |
Y107F |
probably benign |
Het |
Creb3l4 |
T |
C |
3: 90,145,199 (GRCm39) |
N318D |
probably benign |
Het |
Dmrt3 |
G |
A |
19: 25,588,550 (GRCm39) |
A130T |
probably benign |
Het |
Dmxl1 |
A |
T |
18: 50,088,937 (GRCm39) |
K2805N |
probably damaging |
Het |
Dusp15 |
T |
A |
2: 152,788,209 (GRCm39) |
I63F |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,035,063 (GRCm39) |
Q3462R |
probably benign |
Het |
Evpl |
A |
G |
11: 116,120,232 (GRCm39) |
C569R |
probably benign |
Het |
G6pc2 |
A |
G |
2: 69,057,140 (GRCm39) |
N262S |
probably damaging |
Het |
Galk1 |
A |
T |
11: 115,899,762 (GRCm39) |
L325Q |
probably damaging |
Het |
H3c3 |
T |
C |
13: 23,929,108 (GRCm39) |
I125V |
probably benign |
Het |
Hr |
G |
A |
14: 70,795,510 (GRCm39) |
G352R |
probably damaging |
Het |
Il12b |
A |
T |
11: 44,294,864 (GRCm39) |
M1L |
not run |
Het |
Lpar6 |
A |
T |
14: 73,476,950 (GRCm39) |
M304L |
probably benign |
Het |
Mpeg1 |
G |
A |
19: 12,439,291 (GRCm39) |
A250T |
probably benign |
Het |
Mtcl3 |
T |
C |
10: 29,072,721 (GRCm39) |
I671T |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,180,863 (GRCm39) |
K1221R |
probably benign |
Het |
Ogfrl1 |
T |
A |
1: 23,409,399 (GRCm39) |
I276F |
probably damaging |
Het |
Or4f62 |
A |
G |
2: 111,986,869 (GRCm39) |
D191G |
possibly damaging |
Het |
Or4k37 |
T |
C |
2: 111,158,817 (GRCm39) |
C18R |
possibly damaging |
Het |
Or4x12-ps1 |
T |
C |
2: 89,916,631 (GRCm39) |
Y58C |
probably damaging |
Het |
Oxr1 |
A |
G |
15: 41,574,260 (GRCm39) |
N2S |
probably benign |
Het |
P3h3 |
G |
A |
6: 124,822,940 (GRCm39) |
R505C |
probably damaging |
Het |
Pcdhb16 |
A |
T |
18: 37,612,392 (GRCm39) |
I451F |
possibly damaging |
Het |
Pet117 |
C |
A |
2: 144,215,122 (GRCm39) |
D36E |
probably benign |
Het |
Prf1 |
T |
C |
10: 61,138,948 (GRCm39) |
V302A |
probably damaging |
Het |
Prkdc |
G |
A |
16: 15,601,029 (GRCm39) |
A2897T |
possibly damaging |
Het |
Prkra |
A |
G |
2: 76,460,879 (GRCm39) |
L273P |
probably damaging |
Het |
Prr30 |
T |
A |
14: 101,436,365 (GRCm39) |
T66S |
probably benign |
Het |
Slc29a4 |
A |
G |
5: 142,700,819 (GRCm39) |
Y188C |
probably damaging |
Het |
Spink5 |
A |
T |
18: 44,122,425 (GRCm39) |
K297* |
probably null |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tmem100 |
G |
A |
11: 89,926,574 (GRCm39) |
A134T |
probably damaging |
Het |
Tmem132c |
A |
G |
5: 127,437,003 (GRCm39) |
D164G |
possibly damaging |
Het |
Tnfsf18 |
A |
G |
1: 161,331,047 (GRCm39) |
T66A |
possibly damaging |
Het |
Ubr4 |
C |
T |
4: 139,129,935 (GRCm39) |
T685I |
probably damaging |
Het |
Uck1 |
T |
C |
2: 32,146,524 (GRCm39) |
Y185C |
|
Het |
Umod |
T |
A |
7: 119,070,639 (GRCm39) |
I418F |
probably benign |
Het |
Upp1 |
A |
T |
11: 9,079,561 (GRCm39) |
S41C |
probably damaging |
Het |
Vmn1r168 |
A |
T |
7: 23,240,428 (GRCm39) |
Y95F |
probably benign |
Het |
Vmn1r180 |
G |
T |
7: 23,652,415 (GRCm39) |
D193Y |
probably damaging |
Het |
Vmn2r11 |
A |
G |
5: 109,195,319 (GRCm39) |
V669A |
probably damaging |
Het |
Vmn2r55 |
T |
A |
7: 12,385,796 (GRCm39) |
Y728F |
probably damaging |
Het |
Vmn2r78 |
A |
G |
7: 86,603,513 (GRCm39) |
T564A |
possibly damaging |
Het |
Vps13d |
T |
A |
4: 144,865,183 (GRCm39) |
N2057I |
|
Het |
Wdfy3 |
C |
T |
5: 102,030,446 (GRCm39) |
R2354Q |
probably damaging |
Het |
Wdr77 |
T |
A |
3: 105,866,975 (GRCm39) |
C26S |
probably damaging |
Het |
Yif1b |
C |
T |
7: 28,946,690 (GRCm39) |
A267V |
probably benign |
Het |
Zfp316 |
A |
G |
5: 143,248,565 (GRCm39) |
V227A |
unknown |
Het |
Zfp600 |
T |
A |
4: 146,133,151 (GRCm39) |
H606Q |
unknown |
Het |
Zfp804a |
T |
C |
2: 82,087,919 (GRCm39) |
W583R |
probably benign |
Het |
Zfp961 |
T |
C |
8: 72,719,686 (GRCm39) |
W39R |
probably damaging |
Het |
Zfp990 |
T |
A |
4: 145,264,156 (GRCm39) |
C385S |
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 |
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 |
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'- AGCTTGAAGCCGTAGACAGC -3'
(R):5'- TCTTGGCAACTTCCAGGACAATC -3'
Sequencing Primer
(F):5'- TTGAAGCCGTAGACAGCACCTC -3'
(R):5'- TTCCAGGACAATCTGCAGATG -3'
|
Posted On |
2021-03-08 |