Incidental Mutation 'R8677:Fndc3b'
| ID |
661429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc3b
|
| Ensembl Gene |
ENSMUSG00000039286 |
| Gene Name |
fibronectin type III domain containing 3B |
| Synonyms |
1600019O04Rik, fad104 |
| MMRRC Submission |
068532-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
27470311-27765456 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27511176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 778
(V778D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041495
(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: V778D
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: V778D
| 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: V778D
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: V778D
| 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 |
|
| 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 |
|---|
| Acd |
A |
C |
8: 106,427,576 (GRCm39) |
S25R |
probably damaging |
Het |
| Acly |
A |
T |
11: 100,410,569 (GRCm39) |
H136Q |
probably damaging |
Het |
| Adrm1 |
C |
T |
2: 179,813,832 (GRCm39) |
T2M |
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,331,209 (GRCm39) |
L246M |
probably damaging |
Het |
| Bltp2 |
C |
T |
11: 78,174,982 (GRCm39) |
R1706C |
probably damaging |
Het |
| Cacnb3 |
T |
C |
15: 98,539,931 (GRCm39) |
L258P |
probably damaging |
Het |
| Cd36 |
C |
T |
5: 18,025,493 (GRCm39) |
V76M |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,871,633 (GRCm39) |
F80L |
possibly damaging |
Het |
| Clcn1 |
A |
T |
6: 42,267,519 (GRCm39) |
|
probably null |
Het |
| Col17a1 |
T |
C |
19: 47,640,240 (GRCm39) |
T1042A |
probably benign |
Het |
| Comp |
A |
T |
8: 70,832,910 (GRCm39) |
N623Y |
probably damaging |
Het |
| Ctnnal1 |
A |
G |
4: 56,813,272 (GRCm39) |
L653P |
probably benign |
Het |
| Cx3cl1 |
G |
T |
8: 95,506,443 (GRCm39) |
R149S |
probably benign |
Het |
| Dbndd2 |
T |
A |
2: 164,330,522 (GRCm39) |
N58K |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,409,840 (GRCm39) |
I595V |
probably damaging |
Het |
| Dhx15 |
T |
C |
5: 52,341,886 (GRCm39) |
D144G |
probably benign |
Het |
| Dlat |
T |
C |
9: 50,570,007 (GRCm39) |
E120G |
probably damaging |
Het |
| Fam171a1 |
T |
A |
2: 3,221,352 (GRCm39) |
Y273N |
probably damaging |
Het |
| Grn |
T |
C |
11: 102,324,393 (GRCm39) |
S129P |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,757 (GRCm39) |
F169L |
possibly damaging |
Het |
| Hcn2 |
A |
G |
10: 79,560,619 (GRCm39) |
I317V |
probably benign |
Het |
| Heca |
T |
C |
10: 17,791,424 (GRCm39) |
N211D |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,746,414 (GRCm39) |
T293A |
possibly damaging |
Het |
| Ifitm10 |
T |
A |
7: 141,909,749 (GRCm39) |
I116F |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,849,579 (GRCm39) |
H37R |
probably benign |
Het |
| Ivl |
A |
T |
3: 92,479,986 (GRCm39) |
D26E |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,436,418 (GRCm39) |
E761V |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,655,753 (GRCm39) |
V923F |
probably benign |
Het |
| Mfsd4b2 |
A |
T |
10: 39,799,805 (GRCm39) |
F32L |
probably benign |
Het |
| Micu2 |
T |
C |
14: 58,161,420 (GRCm39) |
R301G |
possibly damaging |
Het |
| Miip |
C |
T |
4: 147,947,503 (GRCm39) |
C219Y |
probably damaging |
Het |
| Mn1 |
T |
A |
5: 111,566,885 (GRCm39) |
L285* |
probably null |
Het |
| Mthfd1l |
T |
A |
10: 3,998,250 (GRCm39) |
N664K |
possibly damaging |
Het |
| Mttp |
A |
T |
3: 137,810,437 (GRCm39) |
H659Q |
probably benign |
Het |
| Myadml2 |
G |
A |
11: 120,538,815 (GRCm39) |
P7S |
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nlrp4c |
C |
T |
7: 6,075,644 (GRCm39) |
T645I |
probably damaging |
Het |
| Notch1 |
C |
T |
2: 26,359,936 (GRCm39) |
V1260I |
probably damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,148 (GRCm39) |
L1293P |
probably damaging |
Het |
| Or1a1 |
A |
T |
11: 74,086,415 (GRCm39) |
I29F |
probably benign |
Het |
| Or56a4 |
A |
G |
7: 104,806,775 (GRCm39) |
L38P |
probably benign |
Het |
| Pcdh12 |
G |
T |
18: 38,415,191 (GRCm39) |
H645N |
probably benign |
Het |
| Pdcd1 |
A |
T |
1: 93,968,952 (GRCm39) |
L122H |
probably damaging |
Het |
| Pknox2 |
G |
A |
9: 36,821,887 (GRCm39) |
P246L |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,626,381 (GRCm39) |
S1590T |
possibly damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Proser1 |
A |
G |
3: 53,385,122 (GRCm39) |
T335A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 138,011,335 (GRCm39) |
I598T |
probably damaging |
Het |
| Rasal3 |
T |
C |
17: 32,615,828 (GRCm39) |
T337A |
probably benign |
Het |
| Rasgrp3 |
A |
T |
17: 75,819,055 (GRCm39) |
T415S |
probably benign |
Het |
| Rbm7 |
T |
A |
9: 48,401,273 (GRCm39) |
R152* |
probably null |
Het |
| Sanbr |
T |
C |
11: 23,545,471 (GRCm39) |
D474G |
probably benign |
Het |
| Sf3b2 |
C |
T |
19: 5,336,257 (GRCm39) |
R513H |
probably damaging |
Het |
| Slc22a30 |
A |
G |
19: 8,364,035 (GRCm39) |
S214P |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,796,984 (GRCm39) |
T312A |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,346,019 (GRCm39) |
T1335A |
possibly damaging |
Het |
| Tef |
T |
A |
15: 81,699,169 (GRCm39) |
L59Q |
probably damaging |
Het |
| Tmem131l |
A |
C |
3: 83,836,009 (GRCm39) |
V700G |
probably damaging |
Het |
| Twsg1 |
A |
G |
17: 66,233,402 (GRCm39) |
S183P |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,840,243 (GRCm39) |
T203A |
probably benign |
Het |
| Uqcc6 |
G |
T |
10: 82,456,050 (GRCm39) |
T37K |
possibly damaging |
Het |
| Vmn2r75 |
G |
T |
7: 85,814,410 (GRCm39) |
P361Q |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,346,978 (GRCm39) |
N3073I |
probably damaging |
Het |
| Zfp114 |
A |
G |
7: 23,880,070 (GRCm39) |
N140D |
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 |
|
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 |
|
|
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'- CGATCGTCAAAGGGAGATTTCC -3'
(R):5'- CTGCTGCACTAATGACACTCTTG -3'
Sequencing Primer
(F):5'- GTATAAGGTCAAAAAGTCACATGCAC -3'
(R):5'- GCACTAATGACACTCTTGACTTTAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation