Mutagenetix > Incidental Mutation

Incidental Mutation 'R5392:Fndc3b'

425891

Institutional Source

Beutler Lab

Gene Symbol

Fndc3b

Ensembl Gene

ENSMUSG00000039286

Gene Name

fibronectin type III domain containing 3B

Synonyms

1600019O04Rik, fad104

MMRRC Submission

042964-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5392 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27470311-27765456 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 27519936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 568 (C568*)

Ref Sequence

ENSEMBL: ENSMUSP00000141620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046157] [ENSMUST00000195008]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000046157
AA Change: C568*

SMART Domains

Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: C568*

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 null
Transcript: ENSMUST00000195008
AA Change: C568*

SMART Domains

Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: C568*

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: 98.7%
10x: 97.4%
20x: 95.8%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,852,088 (GRCm39)		probably null	Het
Acyp1	T	C	12: 85,325,759 (GRCm39)		probably benign	Het
Ces1b	G	A	8: 93,798,590 (GRCm39)	R199C	probably damaging	Het
Col6a3	C	A	1: 90,729,017 (GRCm39)	R1308L	probably benign	Het
Cpa5	C	T	6: 30,630,829 (GRCm39)	Q364*	probably null	Het
Cyth4	T	A	15: 78,491,185 (GRCm39)	L88Q	probably damaging	Het
Dock7	A	G	4: 98,896,243 (GRCm39)	V59A	probably damaging	Het
Drd2	A	G	9: 49,306,928 (GRCm39)	N5D	possibly damaging	Het
Epsti1	T	C	14: 78,224,184 (GRCm39)	I272T	probably benign	Het
Frmd4a	C	T	2: 4,599,384 (GRCm39)	A161V	probably damaging	Het
Gfpt1	A	G	6: 87,054,139 (GRCm39)	T465A	probably damaging	Het
Hecw1	C	A	13: 14,420,347 (GRCm39)	Q1025H	probably damaging	Het
Irak4	A	T	15: 94,454,565 (GRCm39)	M237L	probably benign	Het
Irak4	T	C	15: 94,454,566 (GRCm39)	M237T	probably benign	Het
Kdsr	T	A	1: 106,680,971 (GRCm39)	I76F	possibly damaging	Het
Kif15	T	C	9: 122,825,360 (GRCm39)	F533S	probably damaging	Het
Kmt5b	T	C	19: 3,852,127 (GRCm39)	F103L	possibly damaging	Het
Krtcap2	C	T	3: 89,154,186 (GRCm39)	L36F	probably benign	Het
Mroh7	A	G	4: 106,568,448 (GRCm39)		probably null	Het
Mta1	T	C	12: 113,096,856 (GRCm39)	V559A	probably benign	Het
N4bp1	A	G	8: 87,587,048 (GRCm39)		probably null	Het
Oas1d	T	C	5: 121,055,003 (GRCm39)	S192P	possibly damaging	Het
Or1n1b	T	A	2: 36,780,686 (GRCm39)	Y58F	probably benign	Het
Or6c76	A	G	10: 129,612,184 (GRCm39)	I149V	probably benign	Het
Or6d15	A	G	6: 116,559,379 (GRCm39)	F176S	probably damaging	Het
Rabgap1	T	A	2: 37,359,501 (GRCm39)	N21K	probably damaging	Het
Rad9b	A	T	5: 122,489,641 (GRCm39)	C25S	probably damaging	Het
Spg7	T	C	8: 123,814,102 (GRCm39)	S454P	probably damaging	Het
Spink2	T	A	5: 77,354,872 (GRCm39)	H40L	probably benign	Het
Syne1	T	A	10: 5,298,661 (GRCm39)	D1082V	probably damaging	Het
Syt2	A	G	1: 134,671,759 (GRCm39)	D179G	probably damaging	Het
Tm7sf2	T	C	19: 6,113,998 (GRCm39)	D181G	probably damaging	Het
Vmn1r174	A	G	7: 23,454,227 (GRCm39)	I298V	unknown	Het
Vmn2r23	A	T	6: 123,681,323 (GRCm39)	H77L	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Vps9d1	T	C	8: 123,980,752 (GRCm39)	E25G	probably damaging	Het
Zfp119a	T	C	17: 56,173,328 (GRCm39)	R172G	probably benign	Het
Zfp51	A	T	17: 21,685,584 (GRCm39)	Y733F	possibly damaging	Het
Zfp658	A	C	7: 43,222,355 (GRCm39)	E210A	probably benign	Het
Zp2	C	A	7: 119,734,987 (GRCm39)	E433*	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
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
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'- ATTAACATTCAGTGCCCCTCCAG -3'
(R):5'- CATTGAAATCAGCAGTCTCAAGAC -3'

Sequencing Primer
(F):5'- GCCCTCACAAATGTCTAATAAATGC -3'
(R):5'- TCTCAAGACAAGTGACTGGGTC -3'

Posted On

2016-08-04