Mutagenetix > Incidental Mutation

Incidental Mutation 'R1334:Fndc3b'

156804

Institutional Source

Beutler Lab

Gene Symbol

Fndc3b

Ensembl Gene

ENSMUSG00000039286

Gene Name

fibronectin type III domain containing 3B

Synonyms

1600019O04Rik, fad104

MMRRC Submission

039399-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1334 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27470311-27765456 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27513000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 709 (Y709N)

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: Y709N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: Y709N

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: Y709N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: Y709N

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.9%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Bnc2	T	C	4: 84,194,526 (GRCm39)	E933G	possibly damaging	Het
Ccdc69	A	T	11: 54,943,805 (GRCm39)	H75Q	probably damaging	Het
Ccdc81	C	T	7: 89,515,769 (GRCm39)	E637K	probably benign	Het
Cpa3	T	C	3: 20,276,387 (GRCm39)	E282G	probably damaging	Het
Cpxm1	G	A	2: 130,235,483 (GRCm39)	P503L	probably damaging	Het
Dnaaf9	C	T	2: 130,617,642 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,361,495 (GRCm39)	F3465S	probably damaging	Het
Dnaja3	T	C	16: 4,517,658 (GRCm39)	S297P	probably damaging	Het
Enpp4	C	A	17: 44,413,259 (GRCm39)	V92L	probably benign	Het
H2-Eb2	T	G	17: 34,553,324 (GRCm39)	V170G	probably damaging	Het
Hmcn1	C	T	1: 150,462,219 (GRCm39)	G5153D	possibly damaging	Het
Ldah	T	C	12: 8,334,089 (GRCm39)		probably null	Het
Micu1	T	C	10: 59,624,798 (GRCm39)	L280P	probably damaging	Het
Mon1a	A	C	9: 107,778,562 (GRCm39)	N262T	probably damaging	Het
Nim1k	A	G	13: 120,174,024 (GRCm39)	I290T	probably benign	Het
Or1q1	A	T	2: 36,886,872 (GRCm39)	I17F	probably benign	Het
Or2a57	A	G	6: 43,212,899 (GRCm39)	Y119C	probably benign	Het
Or5aq6	T	C	2: 86,923,571 (GRCm39)	T57A	probably damaging	Het
Pcdhb12	C	T	18: 37,569,724 (GRCm39)	T290I	probably damaging	Het
Pkhd1	T	G	1: 20,604,129 (GRCm39)	D1187A	possibly damaging	Het
Primpol	T	C	8: 47,039,426 (GRCm39)	Y398C	probably damaging	Het
Prob1	T	C	18: 35,786,305 (GRCm39)	T650A	possibly damaging	Het
Rasl12	G	A	9: 65,318,151 (GRCm39)	V172M	probably damaging	Het
Rgs5	G	A	1: 169,510,386 (GRCm39)		probably null	Het
St14	T	C	9: 31,019,506 (GRCm39)	Y105C	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Ttn	T	C	2: 76,575,387 (GRCm39)	T16842A	probably damaging	Het
Ttn	T	C	2: 76,643,316 (GRCm39)	E13201G	probably damaging	Het
Vwa5a	C	A	9: 38,646,037 (GRCm39)	N468K	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
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

Predicted Primers

PCR Primer
(F):5'- GTCACATACAACTGAGAGGTTGCAGG -3'
(R):5'- TCATGTAGACTTAGCAGGGTGTCTCAC -3'

Sequencing Primer
(F):5'- GAGGCTAACAAAGGCACCTTG -3'
(R):5'- ggagagacgggcagtgg -3'

Posted On

2014-02-11