Incidental Mutation 'IGL02377:Fndc3b'
ID |
291183 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fndc3b
|
Ensembl Gene |
ENSMUSG00000039286 |
Gene Name |
fibronectin type III domain containing 3B |
Synonyms |
1600019O04Rik, fad104 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02377
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
27470311-27765456 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 27674801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 47
(E47G)
|
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 damaging
Transcript: ENSMUST00000046157
AA Change: E47G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041495 Gene: ENSMUSG00000039286 AA Change: E47G
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 damaging
Transcript: ENSMUST00000193779
AA Change: E47G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141888 Gene: ENSMUSG00000039286 AA Change: E47G
Domain | Start | End | E-Value | Type |
PDB:1WK0|A
|
67 |
117 |
2e-6 |
PDB |
Blast:FN3
|
75 |
119 |
2e-25 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000195008
AA Change: E47G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141620 Gene: ENSMUSG00000039286 AA Change: E47G
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 |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
A |
T |
11: 119,937,689 (GRCm39) |
|
probably benign |
Het |
Abca15 |
T |
C |
7: 119,965,133 (GRCm39) |
|
probably benign |
Het |
App |
T |
C |
16: 84,879,719 (GRCm39) |
Q138R |
probably benign |
Het |
Asah2 |
T |
A |
19: 31,986,814 (GRCm39) |
I529F |
probably benign |
Het |
Atp8b3 |
A |
G |
10: 80,356,128 (GRCm39) |
S1195P |
probably benign |
Het |
Brca1 |
A |
G |
11: 101,415,149 (GRCm39) |
M134T |
probably benign |
Het |
Cacna1s |
T |
C |
1: 135,996,732 (GRCm39) |
L111P |
probably damaging |
Het |
Capns2 |
A |
T |
8: 93,628,215 (GRCm39) |
N35Y |
probably benign |
Het |
Ccne1 |
A |
G |
7: 37,798,415 (GRCm39) |
|
probably null |
Het |
Cfap91 |
G |
T |
16: 38,153,181 (GRCm39) |
|
probably benign |
Het |
Csf1r |
G |
T |
18: 61,257,540 (GRCm39) |
|
probably benign |
Het |
Dipk2b |
T |
A |
X: 18,313,930 (GRCm39) |
I131F |
possibly damaging |
Het |
Dlg3 |
A |
T |
X: 99,817,007 (GRCm39) |
Y326F |
possibly damaging |
Het |
Dnah8 |
T |
C |
17: 31,013,770 (GRCm39) |
V3837A |
probably damaging |
Het |
Dock10 |
A |
G |
1: 80,562,711 (GRCm39) |
|
probably null |
Het |
Emg1 |
A |
G |
6: 124,681,620 (GRCm39) |
V208A |
probably benign |
Het |
Eml6 |
T |
A |
11: 29,727,282 (GRCm39) |
D1280V |
probably damaging |
Het |
Ep400 |
T |
C |
5: 110,868,691 (GRCm39) |
D911G |
unknown |
Het |
Fam171a1 |
T |
C |
2: 3,224,623 (GRCm39) |
|
probably null |
Het |
Fcgbp |
T |
C |
7: 27,806,395 (GRCm39) |
V2121A |
possibly damaging |
Het |
Fggy |
G |
A |
4: 95,511,714 (GRCm39) |
|
probably benign |
Het |
Fignl1 |
G |
T |
11: 11,752,845 (GRCm39) |
T70K |
possibly damaging |
Het |
Frmd4a |
A |
G |
2: 4,539,385 (GRCm39) |
K189E |
possibly damaging |
Het |
Hpse |
T |
A |
5: 100,839,199 (GRCm39) |
Y383F |
probably damaging |
Het |
Ip6k2 |
T |
C |
9: 108,681,798 (GRCm39) |
L197P |
probably damaging |
Het |
Klf1 |
A |
C |
8: 85,631,561 (GRCm39) |
H375P |
probably damaging |
Het |
Krtap6-5 |
T |
A |
16: 88,844,734 (GRCm39) |
|
probably benign |
Het |
Lacc1 |
A |
T |
14: 77,267,055 (GRCm39) |
S403T |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,689,807 (GRCm39) |
I2850V |
possibly damaging |
Het |
Lats2 |
C |
T |
14: 57,929,052 (GRCm39) |
R941Q |
probably damaging |
Het |
Lgals3bp |
A |
T |
11: 118,284,290 (GRCm39) |
Y430N |
probably benign |
Het |
Lrig3 |
A |
T |
10: 125,850,743 (GRCm39) |
H1103L |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,742,365 (GRCm39) |
M1I |
probably null |
Het |
Magee2 |
A |
T |
X: 103,900,399 (GRCm39) |
V84D |
possibly damaging |
Het |
Msantd2 |
G |
A |
9: 37,434,602 (GRCm39) |
V281I |
possibly damaging |
Het |
Mycbpap |
A |
G |
11: 94,394,076 (GRCm39) |
V340A |
probably damaging |
Het |
Myh6 |
A |
T |
14: 55,181,775 (GRCm39) |
M1842K |
probably benign |
Het |
Mylk4 |
T |
C |
13: 32,906,130 (GRCm39) |
D145G |
possibly damaging |
Het |
Nfkbid |
C |
T |
7: 30,124,689 (GRCm39) |
Q160* |
probably null |
Het |
Or11h6 |
T |
A |
14: 50,879,975 (GRCm39) |
|
probably null |
Het |
Or2y1d |
A |
T |
11: 49,321,859 (GRCm39) |
K185N |
probably damaging |
Het |
Or5w1b |
T |
A |
2: 87,475,630 (GRCm39) |
Y279F |
probably damaging |
Het |
Or7e168 |
C |
T |
9: 19,720,343 (GRCm39) |
S243F |
probably damaging |
Het |
Or8c11 |
A |
T |
9: 38,289,542 (GRCm39) |
T122S |
probably damaging |
Het |
Or9q2 |
T |
G |
19: 13,772,693 (GRCm39) |
Q94P |
possibly damaging |
Het |
Pdgfrb |
A |
C |
18: 61,213,404 (GRCm39) |
Q916P |
probably damaging |
Het |
Pex14 |
T |
C |
4: 149,050,743 (GRCm39) |
Q174R |
probably benign |
Het |
Pogz |
T |
C |
3: 94,786,321 (GRCm39) |
S970P |
probably damaging |
Het |
Potegl |
T |
C |
2: 23,102,667 (GRCm39) |
|
probably benign |
Het |
Rabggta |
A |
G |
14: 55,955,952 (GRCm39) |
V165A |
possibly damaging |
Het |
Rdh10 |
G |
A |
1: 16,176,438 (GRCm39) |
W66* |
probably null |
Het |
Ripor2 |
T |
A |
13: 24,879,549 (GRCm39) |
|
probably benign |
Het |
Slc35g1 |
T |
A |
19: 38,391,678 (GRCm39) |
M320K |
possibly damaging |
Het |
Slc9a7 |
A |
G |
X: 20,068,963 (GRCm39) |
Y197H |
probably damaging |
Het |
Smn1 |
T |
C |
13: 100,272,192 (GRCm39) |
|
probably benign |
Het |
Spam1 |
G |
A |
6: 24,796,696 (GRCm39) |
G216S |
probably damaging |
Het |
Spata31 |
A |
T |
13: 65,068,194 (GRCm39) |
N114I |
probably damaging |
Het |
Sptbn1 |
A |
T |
11: 30,069,491 (GRCm39) |
V1615D |
possibly damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Thoc2 |
T |
A |
X: 40,914,355 (GRCm39) |
Q1005H |
possibly damaging |
Het |
Thra |
G |
A |
11: 98,652,742 (GRCm39) |
R189Q |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,983,685 (GRCm39) |
|
probably null |
Het |
Vps13d |
G |
T |
4: 144,882,934 (GRCm39) |
H886Q |
probably damaging |
Het |
Zfp157 |
G |
A |
5: 138,445,859 (GRCm39) |
W71* |
probably null |
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 |
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 |
R4628:Fndc3b
|
UTSW |
3 |
27,610,277 (GRCm39) |
missense |
probably benign |
0.19 |
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 |
|
Posted On |
2015-04-16 |