Incidental Mutation 'R5554:Fndc3b'
| ID |
435263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc3b
|
| Ensembl Gene |
ENSMUSG00000039286 |
| Gene Name |
fibronectin type III domain containing 3B |
| Synonyms |
1600019O04Rik, fad104 |
| MMRRC Submission |
043111-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5554 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
27470311-27765456 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 27697162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 17
(P17T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046157]
[ENSMUST00000193779]
[ENSMUST00000195008]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046157
AA Change: P17T
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: P17T
| 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
AA Change: P17T
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141888
Gene: ENSMUSG00000039286
AA Change: P17T
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1WK0|A
|
67 |
117 |
2e-6 |
PDB |
|
Blast:FN3
|
75 |
119 |
2e-25 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195008
AA Change: P17T
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: P17T
| 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 |
|
| Meta Mutation Damage Score |
0.0843 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
97% (73/75) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
C |
A |
11: 101,304,807 (GRCm39) |
R227L |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,195,182 (GRCm39) |
Q533R |
possibly damaging |
Het |
| Adgb |
C |
T |
10: 10,216,217 (GRCm39) |
R1524H |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,792,622 (GRCm39) |
N739K |
possibly damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Anxa10 |
G |
A |
8: 62,514,080 (GRCm39) |
P249L |
possibly damaging |
Het |
| Banp |
G |
A |
8: 122,718,334 (GRCm39) |
E183K |
probably damaging |
Het |
| BC051665 |
C |
G |
13: 60,932,435 (GRCm39) |
L83F |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,643,295 (GRCm39) |
F385I |
possibly damaging |
Het |
| Chchd4 |
A |
T |
6: 91,441,999 (GRCm39) |
*140R |
probably null |
Het |
| Dcpp2 |
T |
C |
17: 24,119,545 (GRCm39) |
Y120H |
probably damaging |
Het |
| Dlx2 |
G |
A |
2: 71,375,805 (GRCm39) |
R173C |
possibly damaging |
Het |
| Dmbt1 |
C |
A |
7: 130,701,030 (GRCm39) |
Y1069* |
probably null |
Het |
| Dop1a |
T |
A |
9: 86,403,710 (GRCm39) |
F1637I |
probably damaging |
Het |
| Dusp18 |
T |
C |
11: 3,847,202 (GRCm39) |
I64T |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,256,491 (GRCm39) |
|
probably benign |
Het |
| Fiz1 |
T |
C |
7: 5,015,849 (GRCm39) |
H47R |
probably damaging |
Het |
| Foxa1 |
T |
A |
12: 57,589,077 (GRCm39) |
Q381L |
probably benign |
Het |
| Gda |
A |
G |
19: 21,405,837 (GRCm39) |
|
probably null |
Het |
| Gm10044 |
T |
C |
14: 7,771,181 (GRCm38) |
|
noncoding transcript |
Het |
| Gm12258 |
T |
A |
11: 58,749,294 (GRCm39) |
S156R |
possibly damaging |
Het |
| Gm973 |
A |
G |
1: 59,566,131 (GRCm39) |
R117G |
probably benign |
Het |
| Grwd1 |
C |
T |
7: 45,480,064 (GRCm39) |
V48I |
probably damaging |
Het |
| Ifi209 |
T |
A |
1: 173,468,763 (GRCm39) |
S198T |
probably benign |
Het |
| Inka2 |
T |
A |
3: 105,623,930 (GRCm39) |
S82R |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,129,010 (GRCm39) |
C549* |
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,499,608 (GRCm39) |
G511C |
probably damaging |
Het |
| Knstrn |
T |
C |
2: 118,664,444 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,382,768 (GRCm39) |
Y39C |
possibly damaging |
Het |
| Maco1 |
T |
C |
4: 134,555,445 (GRCm39) |
I343V |
probably benign |
Het |
| Micos10 |
T |
C |
4: 138,833,218 (GRCm39) |
|
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,965,457 (GRCm39) |
Y1169H |
probably benign |
Het |
| Nbr1 |
C |
T |
11: 101,455,633 (GRCm39) |
T129I |
probably benign |
Het |
| Or52e8 |
A |
C |
7: 104,625,189 (GRCm39) |
M1R |
probably null |
Het |
| Or5k15 |
A |
T |
16: 58,710,169 (GRCm39) |
M138K |
possibly damaging |
Het |
| Or7g25 |
T |
C |
9: 19,160,039 (GRCm39) |
I219V |
probably benign |
Het |
| Oxct1 |
T |
A |
15: 4,120,677 (GRCm39) |
F254I |
probably benign |
Het |
| Patj |
T |
A |
4: 98,342,633 (GRCm39) |
S576T |
possibly damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,690,363 (GRCm39) |
C202S |
probably benign |
Het |
| Pet100 |
A |
T |
8: 3,672,381 (GRCm39) |
I19F |
probably damaging |
Het |
| Pik3r5 |
T |
C |
11: 68,385,059 (GRCm39) |
Y655H |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,151,476 (GRCm39) |
S3807P |
probably damaging |
Het |
| Ptma |
A |
G |
1: 86,454,649 (GRCm39) |
T8A |
probably damaging |
Het |
| Ptpn3 |
G |
T |
4: 57,240,843 (GRCm39) |
N257K |
probably damaging |
Het |
| R3hdm1 |
C |
A |
1: 128,164,409 (GRCm39) |
Q1108K |
probably benign |
Het |
| Rimbp2 |
T |
C |
5: 128,857,406 (GRCm39) |
D815G |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,523,196 (GRCm39) |
F66L |
probably benign |
Het |
| Selenot |
T |
C |
3: 58,484,296 (GRCm39) |
|
probably null |
Het |
| Serpinb8 |
A |
G |
1: 107,526,705 (GRCm39) |
T82A |
probably benign |
Het |
| Serpini2 |
G |
A |
3: 75,175,295 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
G |
T |
10: 78,631,816 (GRCm39) |
G214V |
probably benign |
Het |
| Slc5a6 |
C |
A |
5: 31,195,444 (GRCm39) |
A425S |
probably damaging |
Het |
| Smo |
C |
A |
6: 29,736,123 (GRCm39) |
N38K |
possibly damaging |
Het |
| Smtn |
A |
T |
11: 3,470,811 (GRCm39) |
C909* |
probably null |
Het |
| Sntg2 |
C |
T |
12: 30,308,040 (GRCm39) |
R215H |
probably benign |
Het |
| Stk4 |
T |
A |
2: 163,941,645 (GRCm39) |
V287E |
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 46,005,358 (GRCm39) |
D388G |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,642,652 (GRCm39) |
F13294L |
probably damaging |
Het |
| Ube2j1 |
T |
G |
4: 33,040,745 (GRCm39) |
F84V |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,370,287 (GRCm39) |
Q477R |
probably damaging |
Het |
| Utf1 |
T |
C |
7: 139,523,859 (GRCm39) |
S25P |
probably benign |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,413 (GRCm39) |
H53L |
probably damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,339,860 (GRCm39) |
N38K |
possibly damaging |
Het |
| Vps13a |
C |
T |
19: 16,699,775 (GRCm39) |
D756N |
probably damaging |
Het |
| Vwa1 |
G |
T |
4: 155,857,695 (GRCm39) |
D34E |
probably damaging |
Het |
| Zfhx2 |
A |
C |
14: 55,301,774 (GRCm39) |
L2070R |
probably damaging |
Het |
| Zfp984 |
A |
G |
4: 147,840,362 (GRCm39) |
V163A |
probably benign |
Het |
| Zp3r |
A |
T |
1: 130,511,208 (GRCm39) |
M325K |
probably benign |
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 |
|
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 |
|
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'- CTAGCTGAATGGGGAAAGAGTTTTG -3'
(R):5'- AGCAGAGAGAAACACTTGTTCG -3'
Sequencing Primer
(F):5'- ATGGGGAAAGAGTTTTGGAGCTC -3'
(R):5'- GAGAAACACTTGTTCGCATGC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation