Incidental Mutation 'R8348:Fndc3b'
| ID |
660417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc3b
|
| Ensembl Gene |
ENSMUSG00000039286 |
| Gene Name |
fibronectin type III domain containing 3B |
| Synonyms |
1600019O04Rik, fad104 |
| MMRRC Submission |
067732-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8348 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
27470311-27765456 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27494144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 994
(M994L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046157]
[ENSMUST00000195008]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046157
AA Change: M994L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: M994L
| 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 |
probably benign
Transcript: ENSMUST00000195008
AA Change: M994L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: M994L
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C10Rik |
A |
G |
7: 37,894,384 (GRCm39) |
Y139C |
possibly damaging |
Het |
| A430033K04Rik |
A |
G |
5: 138,634,514 (GRCm39) |
D43G |
probably damaging |
Het |
| Actn3 |
C |
A |
19: 4,915,361 (GRCm39) |
V464L |
possibly damaging |
Het |
| Adamts15 |
C |
T |
9: 30,813,846 (GRCm39) |
R773Q |
probably benign |
Het |
| Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
| Arhgef28 |
G |
T |
13: 98,190,375 (GRCm39) |
P195T |
possibly damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,245,854 (GRCm39) |
D107E |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,167,507 (GRCm39) |
V1828M |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,704,593 (GRCm39) |
T440A |
possibly damaging |
Het |
| Ctdp1 |
G |
A |
18: 80,493,325 (GRCm39) |
A390V |
probably benign |
Het |
| Desi2 |
T |
A |
1: 178,083,906 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,320,273 (GRCm39) |
M3932K |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,955,121 (GRCm39) |
Q2050L |
probably damaging |
Het |
| Etnppl |
T |
A |
3: 130,423,141 (GRCm39) |
M274K |
probably benign |
Het |
| Farp2 |
G |
T |
1: 93,504,614 (GRCm39) |
|
probably null |
Het |
| Fbxo46 |
G |
A |
7: 18,870,469 (GRCm39) |
G363R |
probably damaging |
Het |
| Fiz1 |
A |
G |
7: 5,015,909 (GRCm39) |
V27A |
probably benign |
Het |
| G3bp1 |
T |
G |
11: 55,389,457 (GRCm39) |
D384E |
possibly damaging |
Het |
| Galnt2 |
C |
T |
8: 125,061,025 (GRCm39) |
R306* |
probably null |
Het |
| Gle1 |
T |
C |
2: 29,832,556 (GRCm39) |
Y304H |
possibly damaging |
Het |
| Gm3415 |
G |
A |
5: 146,493,407 (GRCm39) |
R84H |
probably benign |
Het |
| Gm7694 |
A |
C |
1: 170,129,209 (GRCm39) |
S107A |
possibly damaging |
Het |
| Gpc6 |
A |
G |
14: 117,673,232 (GRCm39) |
D163G |
probably damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,251,892 (GRCm39) |
H514Y |
possibly damaging |
Het |
| Hdgfl2 |
A |
G |
17: 56,406,370 (GRCm39) |
E595G |
possibly damaging |
Het |
| Hoxc11 |
G |
A |
15: 102,863,186 (GRCm39) |
G76S |
possibly damaging |
Het |
| Hoxc4 |
T |
C |
15: 102,943,440 (GRCm39) |
C98R |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,329,878 (GRCm39) |
I4871F |
possibly damaging |
Het |
| Ifnar1 |
A |
G |
16: 91,292,187 (GRCm39) |
D176G |
probably benign |
Het |
| Inafm1 |
A |
G |
7: 16,007,055 (GRCm39) |
I54T |
probably damaging |
Het |
| Inpp5b |
G |
A |
4: 124,678,967 (GRCm39) |
G458D |
probably damaging |
Het |
| Irs2 |
A |
T |
8: 11,054,974 (GRCm39) |
S1153T |
probably damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,096,609 (GRCm39) |
Y77C |
probably damaging |
Het |
| Klhl35 |
C |
A |
7: 99,121,062 (GRCm39) |
D10E |
probably damaging |
Het |
| Lef1 |
A |
T |
3: 130,906,461 (GRCm39) |
M1L |
probably benign |
Het |
| Lima1 |
T |
C |
15: 99,678,753 (GRCm39) |
T403A |
probably benign |
Het |
| Magi3 |
T |
A |
3: 103,958,531 (GRCm39) |
N518I |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,836,974 (GRCm39) |
C269R |
probably damaging |
Het |
| Mis18a |
A |
T |
16: 90,523,919 (GRCm39) |
L81* |
probably null |
Het |
| Mug2 |
A |
T |
6: 122,049,192 (GRCm39) |
K903* |
probably null |
Het |
| Nhsl3 |
G |
A |
4: 129,117,699 (GRCm39) |
R322C |
probably damaging |
Het |
| Pex6 |
T |
C |
17: 47,034,039 (GRCm39) |
S656P |
probably benign |
Het |
| Pgr |
C |
A |
9: 8,922,602 (GRCm39) |
Q591K |
probably benign |
Het |
| Phactr3 |
T |
C |
2: 177,897,935 (GRCm39) |
S50P |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Sipa1l1 |
T |
A |
12: 82,443,045 (GRCm39) |
N778K |
probably benign |
Het |
| Slc22a6 |
C |
G |
19: 8,599,169 (GRCm39) |
R267G |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,583,655 (GRCm39) |
V545A |
possibly damaging |
Het |
| Snf8 |
A |
G |
11: 95,925,877 (GRCm39) |
K13R |
probably benign |
Het |
| St3gal1 |
G |
A |
15: 66,985,511 (GRCm39) |
R48C |
probably damaging |
Het |
| Tacc2 |
A |
C |
7: 130,225,019 (GRCm39) |
K568T |
possibly damaging |
Het |
| Tnxb |
C |
A |
17: 34,929,102 (GRCm39) |
T2715K |
possibly damaging |
Het |
| Vegfb |
T |
C |
19: 6,962,856 (GRCm39) |
I140V |
probably benign |
Het |
| Vmn2r89 |
A |
C |
14: 51,692,548 (GRCm39) |
D117A |
possibly damaging |
Het |
| Vps13c |
C |
T |
9: 67,786,385 (GRCm39) |
T284I |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,906,960 (GRCm39) |
|
probably null |
Het |
| Wscd2 |
T |
A |
5: 113,710,371 (GRCm39) |
H298Q |
possibly damaging |
Het |
| Zfp69 |
A |
T |
4: 120,787,834 (GRCm39) |
C494S |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,949,361 (GRCm39) |
T200A |
possibly 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 |
|
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 |
|
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'- TCAAACGCTTAAGAACTCCGGAG -3'
(R):5'- TTCCCCACCTCTAGGATCAG -3'
Sequencing Primer
(F):5'- AGGGCATGTGCTGGGTACAC -3'
(R):5'- CCTCTAGGATCAGAATTCAGGCTATC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation