Mutagenetix > Incidental Mutation

Incidental Mutation 'R2997:Fndc3b'

257196

Institutional Source

Beutler Lab

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) question?

Stock #

R2997 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27470311-27765456 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 27523021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 519 (D519E)

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: D519E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: D519E

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: D519E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: D519E

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	A	T	3: 148,523,285 (GRCm39)	V82E	probably damaging	Het
Ahcyl	G	A	16: 45,974,288 (GRCm39)	T363I	possibly damaging	Het
Arid5b	C	T	10: 67,934,292 (GRCm39)	G294S	probably benign	Het
Arl6	A	T	16: 59,444,239 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Elp4	A	G	2: 105,644,661 (GRCm39)	F228L	possibly damaging	Het
Gbp9	T	A	5: 105,230,635 (GRCm39)	I430F	probably benign	Het
Lgr4	A	T	2: 109,833,862 (GRCm39)	E369D	probably benign	Het
Lrguk	T	A	6: 34,050,697 (GRCm39)	V385D	probably damaging	Het
Mier1	T	A	4: 102,988,233 (GRCm39)	D52E	probably damaging	Het
Mthfd1	G	T	12: 76,361,810 (GRCm39)	V139F	probably benign	Het
Myg1	G	T	15: 102,245,945 (GRCm39)	R315L	probably null	Het
Pcare	ACTGCTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	17: 72,051,706 (GRCm39)		probably benign	Het
Tchh	CACGCGAGGAACGCGAGGAAC	CACGCGAGGAAC	3: 93,355,057 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,716,350 (GRCm39)		probably benign	Het
Tyw5	T	C	1: 57,427,800 (GRCm39)	D268G	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
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

Predicted Primers

PCR Primer
(F):5'- ATTTTGAAGAAGGGCTCGGG -3'
(R):5'- AGGATCCCTCTGACACAGTG -3'

Sequencing Primer
(F):5'- GAAGGTTTGCTGGCTGATTCTATC -3'
(R):5'- TCTGACACAGTGCCCACATGTC -3'

Posted On

2015-01-11