Incidental Mutation 'R4628:Fndc3b'
| ID |
348932 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc3b
|
| Ensembl Gene |
ENSMUSG00000039286 |
| Gene Name |
fibronectin type III domain containing 3B |
| Synonyms |
1600019O04Rik, fad104 |
| MMRRC Submission |
041893-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4628 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
27470311-27765456 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27610277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 86
(I86V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046157]
[ENSMUST00000193779]
[ENSMUST00000195008]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046157
AA Change: I86V
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: I86V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
246 |
N/A |
INTRINSIC |
|
FN3
|
279 |
368 |
6.29e-8 |
SMART |
|
FN3
|
382 |
463 |
8.31e-8 |
SMART |
|
FN3
|
478 |
560 |
3.15e-8 |
SMART |
|
FN3
|
575 |
659 |
4.28e-10 |
SMART |
|
FN3
|
674 |
755 |
2.14e-10 |
SMART |
|
FN3
|
770 |
849 |
1.98e-5 |
SMART |
|
FN3
|
872 |
947 |
1.31e-5 |
SMART |
|
FN3
|
961 |
1042 |
2.31e-6 |
SMART |
|
FN3
|
1057 |
1137 |
1.2e-4 |
SMART |
|
low complexity region
|
1165 |
1176 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1182 |
1204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191684
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193779
|
| SMART Domains |
Protein: ENSMUSP00000141888
Gene: ENSMUSG00000039286
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1WK0|A
|
67 |
117 |
2e-6 |
PDB |
|
Blast:FN3
|
75 |
119 |
2e-25 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195008
AA Change: I86V
PolyPhen 2
Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: I86V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
246 |
N/A |
INTRINSIC |
|
FN3
|
279 |
368 |
6.29e-8 |
SMART |
|
FN3
|
382 |
463 |
8.31e-8 |
SMART |
|
FN3
|
478 |
560 |
3.15e-8 |
SMART |
|
FN3
|
575 |
659 |
4.28e-10 |
SMART |
|
FN3
|
674 |
755 |
2.14e-10 |
SMART |
|
FN3
|
770 |
849 |
1.98e-5 |
SMART |
|
FN3
|
872 |
947 |
1.31e-5 |
SMART |
|
FN3
|
961 |
1042 |
2.31e-6 |
SMART |
|
FN3
|
1057 |
1137 |
1.2e-4 |
SMART |
|
low complexity region
|
1165 |
1176 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1182 |
1204 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth despite normal energy homeostasis. Mouse embryonic fibroblasts homozygous for a knock-out allele exhibit impaired adipogenesis and enhanced osteogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,851,022 (GRCm39) |
|
probably null |
Het |
| Abcb4 |
A |
G |
5: 8,957,399 (GRCm39) |
D176G |
probably benign |
Het |
| Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
| Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,292,989 (GRCm39) |
T815A |
probably benign |
Het |
| Arid3a |
T |
C |
10: 79,766,992 (GRCm39) |
S89P |
possibly damaging |
Het |
| Ass1 |
A |
T |
2: 31,371,000 (GRCm39) |
D63V |
probably damaging |
Het |
| Atxn3 |
T |
A |
12: 101,889,337 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
C |
T |
12: 31,676,806 (GRCm39) |
S88N |
probably benign |
Het |
| Bsn |
G |
T |
9: 107,990,434 (GRCm39) |
P1773T |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,890,024 (GRCm39) |
S423P |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,260,843 (GRCm39) |
L85Q |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,444,372 (GRCm39) |
R438G |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,710,091 (GRCm39) |
M289K |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,313,229 (GRCm39) |
Y26* |
probably null |
Het |
| Colec10 |
A |
G |
15: 54,323,127 (GRCm39) |
T117A |
possibly damaging |
Het |
| Colq |
C |
A |
14: 31,265,979 (GRCm39) |
G178V |
probably damaging |
Het |
| Defb3 |
A |
T |
8: 19,345,156 (GRCm39) |
R37S |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,176,733 (GRCm39) |
Y1418C |
probably damaging |
Het |
| Engase |
C |
T |
11: 118,375,731 (GRCm39) |
S33F |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,469,324 (GRCm39) |
T1259S |
probably damaging |
Het |
| Fam98c |
T |
C |
7: 28,854,693 (GRCm39) |
T49A |
possibly damaging |
Het |
| Fhod3 |
T |
A |
18: 25,253,186 (GRCm39) |
F1379I |
possibly damaging |
Het |
| Gm1123 |
A |
G |
9: 98,896,289 (GRCm39) |
V197A |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,457,964 (GRCm39) |
V463E |
probably damaging |
Het |
| Gm9772 |
T |
C |
17: 22,226,188 (GRCm39) |
K32R |
probably damaging |
Het |
| Gm9804 |
T |
C |
12: 49,448,540 (GRCm39) |
S161P |
unknown |
Het |
| Gpr162 |
C |
T |
6: 124,838,405 (GRCm39) |
D82N |
probably benign |
Het |
| Grid2ip |
T |
C |
5: 143,368,630 (GRCm39) |
V650A |
probably damaging |
Het |
| Hs1bp3 |
T |
C |
12: 8,386,357 (GRCm39) |
V253A |
probably benign |
Het |
| Hsd3b6 |
T |
G |
3: 98,713,895 (GRCm39) |
K135Q |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,887,468 (GRCm39) |
D2532G |
possibly damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,899,837 (GRCm39) |
Y74H |
probably benign |
Het |
| Itga2 |
A |
G |
13: 115,014,229 (GRCm39) |
V233A |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,246,140 (GRCm39) |
|
probably benign |
Het |
| Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lcmt1 |
T |
A |
7: 123,010,035 (GRCm39) |
C183* |
probably null |
Het |
| Lcn5 |
A |
G |
2: 25,548,075 (GRCm39) |
E28G |
possibly damaging |
Het |
| Leo1 |
A |
T |
9: 75,352,979 (GRCm39) |
D174V |
probably damaging |
Het |
| Llgl1 |
A |
T |
11: 60,600,811 (GRCm39) |
T636S |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,283,981 (GRCm39) |
C69S |
probably damaging |
Het |
| Maml3 |
A |
T |
3: 51,703,891 (GRCm39) |
|
probably benign |
Het |
| Maz |
G |
T |
7: 126,624,519 (GRCm39) |
H334N |
possibly damaging |
Het |
| Mcm6 |
T |
C |
1: 128,279,285 (GRCm39) |
D167G |
probably benign |
Het |
| Mrpl24 |
A |
C |
3: 87,829,436 (GRCm39) |
|
probably null |
Het |
| Myo18a |
G |
A |
11: 77,714,962 (GRCm39) |
V834M |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,198,362 (GRCm39) |
R461* |
probably null |
Het |
| Notch4 |
C |
A |
17: 34,789,159 (GRCm39) |
T486N |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,880,257 (GRCm39) |
E93G |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,219,358 (GRCm39) |
Y858C |
probably damaging |
Het |
| Or13a17 |
T |
A |
7: 140,271,291 (GRCm39) |
S158T |
probably benign |
Het |
| Or13a28 |
C |
T |
7: 140,218,297 (GRCm39) |
R228C |
probably benign |
Het |
| Or1j11 |
T |
A |
2: 36,311,869 (GRCm39) |
L153* |
probably null |
Het |
| Otud4 |
T |
A |
8: 80,366,597 (GRCm39) |
D21E |
possibly damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,887,639 (GRCm39) |
|
probably null |
Het |
| Pdia3 |
A |
T |
2: 121,244,620 (GRCm39) |
N11I |
possibly damaging |
Het |
| Pex5 |
T |
C |
6: 124,380,079 (GRCm39) |
D286G |
possibly damaging |
Het |
| Pias3 |
T |
C |
3: 96,607,136 (GRCm39) |
I133T |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,279,578 (GRCm39) |
D352G |
probably damaging |
Het |
| Prl7c1 |
T |
C |
13: 27,962,065 (GRCm39) |
R81G |
probably benign |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Rtraf |
T |
A |
14: 19,867,155 (GRCm39) |
N116I |
probably benign |
Het |
| Semp2l2a |
T |
A |
8: 13,886,625 (GRCm39) |
R489W |
probably damaging |
Het |
| Slc6a12 |
T |
A |
6: 121,328,951 (GRCm39) |
C50* |
probably null |
Het |
| Spring1 |
G |
C |
5: 118,397,479 (GRCm39) |
A154P |
probably damaging |
Het |
| Srcin1 |
T |
A |
11: 97,439,752 (GRCm39) |
H126L |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
| Uroc1 |
A |
T |
6: 90,332,310 (GRCm39) |
I556F |
probably damaging |
Het |
| Vmn1r124 |
T |
A |
7: 20,994,302 (GRCm39) |
K81* |
probably null |
Het |
| Vmn1r57 |
T |
A |
7: 5,223,972 (GRCm39) |
C166S |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r68 |
A |
G |
7: 84,883,673 (GRCm39) |
V144A |
probably benign |
Het |
| Vmn2r85 |
C |
T |
10: 130,261,235 (GRCm39) |
M367I |
probably benign |
Het |
| Vwa3a |
T |
A |
7: 120,392,598 (GRCm39) |
N812K |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,824,515 (GRCm39) |
N1301K |
probably damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,468,536 (GRCm39) |
R2898H |
probably damaging |
Het |
|
| Other mutations in Fndc3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00655:Fndc3b
|
APN |
3 |
27,592,161 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL00848:Fndc3b
|
APN |
3 |
27,505,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01099:Fndc3b
|
APN |
3 |
27,517,966 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01459:Fndc3b
|
APN |
3 |
27,515,889 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01583:Fndc3b
|
APN |
3 |
27,483,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01736:Fndc3b
|
APN |
3 |
27,521,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02154:Fndc3b
|
APN |
3 |
27,592,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02377:Fndc3b
|
APN |
3 |
27,674,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02470:Fndc3b
|
APN |
3 |
27,515,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02508:Fndc3b
|
APN |
3 |
27,512,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02834:Fndc3b
|
APN |
3 |
27,562,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Fndc3b
|
APN |
3 |
27,542,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02999:Fndc3b
|
APN |
3 |
27,592,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03083:Fndc3b
|
APN |
3 |
27,521,576 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0040:Fndc3b
|
UTSW |
3 |
27,610,266 (GRCm39) |
splice site |
probably null |
|
|
R0040:Fndc3b
|
UTSW |
3 |
27,610,266 (GRCm39) |
splice site |
probably null |
|
|
R0101:Fndc3b
|
UTSW |
3 |
27,512,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0279:Fndc3b
|
UTSW |
3 |
27,511,155 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0281:Fndc3b
|
UTSW |
3 |
27,511,155 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0325:Fndc3b
|
UTSW |
3 |
27,521,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Fndc3b
|
UTSW |
3 |
27,515,928 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1334:Fndc3b
|
UTSW |
3 |
27,513,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Fndc3b
|
UTSW |
3 |
27,494,334 (GRCm39) |
splice site |
probably benign |
|
|
R1961:Fndc3b
|
UTSW |
3 |
27,510,600 (GRCm39) |
nonsense |
probably null |
|
|
R1993:Fndc3b
|
UTSW |
3 |
27,473,549 (GRCm39) |
missense |
probably benign |
|
|
R2087:Fndc3b
|
UTSW |
3 |
27,505,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2113:Fndc3b
|
UTSW |
3 |
27,697,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Fndc3b
|
UTSW |
3 |
27,494,309 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2437:Fndc3b
|
UTSW |
3 |
27,505,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2930:Fndc3b
|
UTSW |
3 |
27,524,435 (GRCm39) |
missense |
probably benign |
|
|
R2997:Fndc3b
|
UTSW |
3 |
27,523,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3151:Fndc3b
|
UTSW |
3 |
27,473,652 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3782:Fndc3b
|
UTSW |
3 |
27,514,135 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4255:Fndc3b
|
UTSW |
3 |
27,555,556 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4747:Fndc3b
|
UTSW |
3 |
27,483,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4849:Fndc3b
|
UTSW |
3 |
27,514,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5185:Fndc3b
|
UTSW |
3 |
27,511,219 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5291:Fndc3b
|
UTSW |
3 |
27,697,144 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5392:Fndc3b
|
UTSW |
3 |
27,519,936 (GRCm39) |
nonsense |
probably null |
|
|
R5540:Fndc3b
|
UTSW |
3 |
27,555,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5554:Fndc3b
|
UTSW |
3 |
27,697,162 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5635:Fndc3b
|
UTSW |
3 |
27,596,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Fndc3b
|
UTSW |
3 |
27,480,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5678:Fndc3b
|
UTSW |
3 |
27,483,172 (GRCm39) |
missense |
probably benign |
|
|
R5732:Fndc3b
|
UTSW |
3 |
27,515,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5880:Fndc3b
|
UTSW |
3 |
27,483,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6539:Fndc3b
|
UTSW |
3 |
27,592,206 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7038:Fndc3b
|
UTSW |
3 |
27,555,618 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7102:Fndc3b
|
UTSW |
3 |
27,524,383 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7203:Fndc3b
|
UTSW |
3 |
27,510,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7472:Fndc3b
|
UTSW |
3 |
27,515,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7796:Fndc3b
|
UTSW |
3 |
27,515,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7861:Fndc3b
|
UTSW |
3 |
27,523,148 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8105:Fndc3b
|
UTSW |
3 |
27,524,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8119:Fndc3b
|
UTSW |
3 |
27,505,493 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8348:Fndc3b
|
UTSW |
3 |
27,494,144 (GRCm39) |
missense |
probably benign |
|
|
R8677:Fndc3b
|
UTSW |
3 |
27,511,176 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8929:Fndc3b
|
UTSW |
3 |
27,596,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8943:Fndc3b
|
UTSW |
3 |
27,555,329 (GRCm39) |
intron |
probably benign |
|
|
R9102:Fndc3b
|
UTSW |
3 |
27,523,014 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9211:Fndc3b
|
UTSW |
3 |
27,523,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9224:Fndc3b
|
UTSW |
3 |
27,524,450 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9225:Fndc3b
|
UTSW |
3 |
27,510,680 (GRCm39) |
nonsense |
probably null |
|
|
R9358:Fndc3b
|
UTSW |
3 |
27,505,556 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9600:Fndc3b
|
UTSW |
3 |
27,552,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Fndc3b
|
UTSW |
3 |
27,505,583 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Z1088:Fndc3b
|
UTSW |
3 |
27,519,957 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGGCTCCCAAAGATGTTTTGC -3'
(R):5'- CAGGAAATTACGCCAGCCATG -3'
Sequencing Primer
(F):5'- CTCCCAAAGATGTTTTGCTTGGTG -3'
(R):5'- AGCCATGGTTTCAGGCTGTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation