Incidental Mutation 'IGL01583:Fndc3b'
| ID |
91448 |
| 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 # |
IGL01583
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
27470311-27765456 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27483144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1018
(Y1018C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046157]
[ENSMUST00000195008]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046157
AA Change: Y1018C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: Y1018C
| 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 damaging
Transcript: ENSMUST00000195008
AA Change: Y1018C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: Y1018C
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,126,753 (GRCm39) |
M329K |
possibly damaging |
Het |
| Abce1 |
G |
A |
8: 80,420,076 (GRCm39) |
T300M |
probably damaging |
Het |
| Acap1 |
G |
A |
11: 69,772,503 (GRCm39) |
S536L |
probably damaging |
Het |
| Adcy5 |
C |
A |
16: 35,103,883 (GRCm39) |
|
probably benign |
Het |
| Ap2b1 |
G |
T |
11: 83,215,437 (GRCm39) |
R127L |
possibly damaging |
Het |
| Asxl3 |
T |
G |
18: 22,649,654 (GRCm39) |
S548A |
probably benign |
Het |
| Atm |
G |
A |
9: 53,395,547 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
T |
C |
2: 155,818,069 (GRCm39) |
V807A |
probably damaging |
Het |
| Ces1g |
T |
A |
8: 94,033,587 (GRCm39) |
Y445F |
probably damaging |
Het |
| Cnksr3 |
A |
G |
10: 7,070,512 (GRCm39) |
Y241H |
probably benign |
Het |
| Col9a1 |
T |
C |
1: 24,224,225 (GRCm39) |
S136P |
unknown |
Het |
| Cux2 |
C |
A |
5: 122,012,170 (GRCm39) |
G422W |
probably damaging |
Het |
| Cyp1a2 |
A |
T |
9: 57,589,655 (GRCm39) |
M53K |
probably benign |
Het |
| Ddx20 |
T |
C |
3: 105,593,986 (GRCm39) |
D123G |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,860,466 (GRCm39) |
L1284* |
probably null |
Het |
| Dpp9 |
A |
C |
17: 56,518,666 (GRCm39) |
L46R |
probably benign |
Het |
| Elavl1 |
A |
T |
8: 4,351,699 (GRCm39) |
V139E |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,921,261 (GRCm39) |
N78D |
possibly damaging |
Het |
| Fubp3 |
C |
T |
2: 31,501,755 (GRCm39) |
|
probably benign |
Het |
| Gbx2 |
C |
A |
1: 89,856,559 (GRCm39) |
R277L |
probably damaging |
Het |
| Gm128 |
T |
C |
3: 95,148,094 (GRCm39) |
R67G |
possibly damaging |
Het |
| Gpc2 |
T |
A |
5: 138,273,792 (GRCm39) |
R469W |
probably damaging |
Het |
| Ifi30 |
G |
A |
8: 71,217,407 (GRCm39) |
|
probably benign |
Het |
| Kbtbd4 |
T |
C |
2: 90,736,252 (GRCm39) |
S88P |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,842,750 (GRCm39) |
Y216N |
probably damaging |
Het |
| Lgals4 |
A |
G |
7: 28,540,973 (GRCm39) |
D299G |
probably damaging |
Het |
| Lmx1b |
A |
G |
2: 33,459,071 (GRCm39) |
S161P |
probably benign |
Het |
| Lrcol1 |
T |
A |
5: 110,502,444 (GRCm39) |
S107T |
probably benign |
Het |
| Lrrc28 |
A |
T |
7: 67,195,223 (GRCm39) |
|
probably null |
Het |
| Ncoa4 |
T |
C |
14: 31,894,884 (GRCm39) |
V42A |
probably benign |
Het |
| Nkd2 |
C |
T |
13: 73,969,599 (GRCm39) |
S277N |
probably benign |
Het |
| Nlrp2 |
A |
T |
7: 5,340,769 (GRCm39) |
L15Q |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,107,968 (GRCm39) |
L1025R |
probably damaging |
Het |
| Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
| Or5w1 |
G |
T |
2: 87,486,757 (GRCm39) |
C169* |
probably null |
Het |
| Piwil4 |
A |
T |
9: 14,645,783 (GRCm39) |
F152I |
probably damaging |
Het |
| Plod3 |
T |
C |
5: 137,025,002 (GRCm39) |
S705P |
probably benign |
Het |
| Ppp2r2c |
T |
A |
5: 37,026,166 (GRCm39) |
M1K |
probably null |
Het |
| Rgs19 |
T |
C |
2: 181,331,246 (GRCm39) |
E129G |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,768,061 (GRCm39) |
S223T |
probably damaging |
Het |
| Shox2 |
T |
C |
3: 66,881,104 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
T |
C |
2: 122,527,137 (GRCm39) |
I370V |
probably benign |
Het |
| Slco1b2 |
A |
G |
6: 141,609,398 (GRCm39) |
I269M |
possibly damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,485,793 (GRCm39) |
Y142C |
probably damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,934,198 (GRCm39) |
N658S |
probably benign |
Het |
| Sos1 |
A |
T |
17: 80,741,329 (GRCm39) |
S485R |
probably benign |
Het |
| Srpk1 |
A |
G |
17: 28,825,291 (GRCm39) |
L127P |
probably damaging |
Het |
| St3gal6 |
T |
A |
16: 58,314,033 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
T |
A |
2: 163,916,134 (GRCm39) |
M1K |
probably null |
Het |
| Tbc1d12 |
A |
G |
19: 38,871,176 (GRCm39) |
E313G |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,393,134 (GRCm39) |
I472T |
probably benign |
Het |
| Tiam1 |
G |
A |
16: 89,586,168 (GRCm39) |
R849W |
probably damaging |
Het |
| Tle3 |
A |
G |
9: 61,317,307 (GRCm39) |
T381A |
probably benign |
Het |
| Tmem82 |
T |
G |
4: 141,341,954 (GRCm39) |
T337P |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,868,149 (GRCm39) |
T220A |
probably benign |
Het |
| Ung |
A |
G |
5: 114,275,369 (GRCm39) |
K242E |
possibly damaging |
Het |
| Vmn1r211 |
A |
T |
13: 23,036,571 (GRCm39) |
M32K |
probably benign |
Het |
| Vps13d |
T |
G |
4: 144,771,658 (GRCm39) |
D956A |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,594,722 (GRCm39) |
|
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 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation