Incidental Mutation 'R5291:Fndc3b'
| ID |
405130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc3b
|
| Ensembl Gene |
ENSMUSG00000039286 |
| Gene Name |
fibronectin type III domain containing 3B |
| Synonyms |
1600019O04Rik, fad104 |
| MMRRC Submission |
042874-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5291 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
27470311-27765456 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 27697144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 23
(V23L)
|
| 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: V23L
PolyPhen 2
Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: V23L
| 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: V23L
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141888
Gene: ENSMUSG00000039286
AA Change: V23L
| 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: V23L
PolyPhen 2
Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: V23L
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,823,394 (GRCm39) |
S328G |
probably damaging |
Het |
| Acot5 |
T |
G |
12: 84,120,293 (GRCm39) |
L216R |
probably benign |
Het |
| Ankrd6 |
A |
G |
4: 32,823,446 (GRCm39) |
L192P |
probably damaging |
Het |
| Atp6v1e1 |
C |
A |
6: 120,795,294 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
C |
9: 22,540,293 (GRCm39) |
Y358H |
probably damaging |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Camk2a |
A |
G |
18: 61,090,236 (GRCm39) |
K192R |
probably damaging |
Het |
| Ceacam1 |
T |
A |
7: 25,171,256 (GRCm39) |
R223W |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,703,096 (GRCm39) |
F173I |
probably damaging |
Het |
| Cntrl |
A |
C |
2: 35,024,072 (GRCm39) |
I33L |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,800,738 (GRCm39) |
S633P |
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,956,566 (GRCm39) |
H181R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,025,205 (GRCm39) |
S542G |
probably benign |
Het |
| Dnm2 |
T |
G |
9: 21,390,203 (GRCm39) |
L402R |
probably damaging |
Het |
| Gata4 |
A |
C |
14: 63,478,048 (GRCm39) |
F184V |
probably damaging |
Het |
| Gcnt2 |
A |
G |
13: 41,072,268 (GRCm39) |
R304G |
probably damaging |
Het |
| Gm10563 |
TTTC |
TTTCCTTC |
4: 155,698,969 (GRCm39) |
|
probably benign |
Het |
| Gm26558 |
G |
A |
2: 70,491,873 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,922,874 (GRCm39) |
V1107I |
probably benign |
Het |
| Herpud2 |
C |
T |
9: 25,036,256 (GRCm39) |
G135S |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,429,747 (GRCm39) |
I441T |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,793,015 (GRCm39) |
D2553G |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,467,416 (GRCm39) |
N43K |
possibly damaging |
Het |
| Or4c12 |
A |
T |
2: 89,773,780 (GRCm39) |
Y226* |
probably null |
Het |
| Or5k17 |
T |
C |
16: 58,746,764 (GRCm39) |
T57A |
possibly damaging |
Het |
| Paxbp1 |
C |
T |
16: 90,841,240 (GRCm39) |
M1I |
probably null |
Het |
| Phip |
A |
G |
9: 82,827,936 (GRCm39) |
Y97H |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,058,211 (GRCm39) |
I3774F |
probably damaging |
Het |
| Pramel11 |
G |
T |
4: 143,622,237 (GRCm39) |
P373T |
probably damaging |
Het |
| Prrc2c |
C |
A |
1: 162,533,151 (GRCm39) |
|
probably benign |
Het |
| Prss12 |
T |
C |
3: 123,299,112 (GRCm39) |
L628P |
probably damaging |
Het |
| Ptpre |
G |
A |
7: 135,280,030 (GRCm39) |
V578I |
probably benign |
Het |
| Qsox2 |
A |
T |
2: 26,107,710 (GRCm39) |
L261H |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,977,366 (GRCm39) |
V1327E |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,075,967 (GRCm39) |
S306P |
probably benign |
Het |
| Rtel1 |
A |
G |
2: 180,993,888 (GRCm39) |
Q640R |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,815,023 (GRCm39) |
D175V |
probably benign |
Het |
| Scarf1 |
T |
C |
11: 75,414,900 (GRCm39) |
S525P |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 56,006,542 (GRCm39) |
Y982* |
probably null |
Het |
| Slc35b2 |
T |
C |
17: 45,877,424 (GRCm39) |
Y184H |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,223,446 (GRCm39) |
K1375E |
possibly damaging |
Het |
| Spats2 |
G |
T |
15: 99,076,422 (GRCm39) |
A167S |
probably benign |
Het |
| Spen |
C |
A |
4: 141,215,390 (GRCm39) |
A481S |
unknown |
Het |
| Spred3 |
T |
A |
7: 28,867,255 (GRCm39) |
H47L |
probably damaging |
Het |
| Srsf4 |
T |
A |
4: 131,613,617 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
A |
T |
14: 87,743,234 (GRCm39) |
H394L |
probably benign |
Het |
| Terf1 |
A |
G |
1: 15,889,310 (GRCm39) |
|
probably null |
Het |
| Txlnb |
A |
T |
10: 17,675,144 (GRCm39) |
D99V |
possibly damaging |
Het |
| Ugt1a7c |
A |
T |
1: 88,023,231 (GRCm39) |
N130I |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,781,752 (GRCm39) |
D331V |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,789,139 (GRCm39) |
I744T |
probably damaging |
Het |
| Ythdc1 |
A |
G |
5: 86,983,547 (GRCm39) |
D664G |
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 |
|
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 |
|
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'- CTAGCTGAATGGGGAAAGAGTTTTG -3'
(R):5'- AGAAACACTTGTTCGCATGC -3'
Sequencing Primer
(F):5'- ATGGGGAAAGAGTTTTGGAGCTC -3'
(R):5'- GAAACACTTGTTCGCATGCTTTAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation