Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02470:Fndc3b'

294687

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fndc3b

Ensembl Gene

ENSMUSG00000039286

Gene Name

fibronectin type III domain containing 3B

Synonyms

fad104, 1600019O04Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02470

Quality Score

Status

Chromosome

Chromosomal Location

27416162-27711307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27461720 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 646 (Y646H)

Ref Sequence

ENSEMBL: ENSMUSP00000141620 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000046157
AA Change: Y646H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: Y646H

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: Y646H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: Y646H

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,222	M255K	probably damaging	Het
Adcy10	A	G	1: 165,567,726	Y1422C	probably damaging	Het
Adnp	T	A	2: 168,183,194	K727I	probably damaging	Het
Akr1c21	A	T	13: 4,577,407	N167Y	probably damaging	Het
Arl4a	T	C	12: 40,036,748		probably benign	Het
BB014433	A	T	8: 15,042,803	F17I	unknown	Het
Best1	T	C	19: 9,992,976	S91G	probably benign	Het
Ccdc148	A	T	2: 59,001,899	S235T	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dcc	A	T	18: 71,955,082		probably benign	Het
Dnajc13	G	A	9: 104,175,747	T1672I	probably benign	Het
Elf3	A	T	1: 135,255,012	F325Y	probably damaging	Het
Enpp2	A	G	15: 54,839,460	L880P	probably damaging	Het
Fzd6	A	T	15: 39,036,557		probably benign	Het
Gnb1	T	A	4: 155,527,513		probably benign	Het
Mast1	C	A	8: 84,921,212	G511V	probably damaging	Het
Mcmbp	T	C	7: 128,704,621	I424M	possibly damaging	Het
Mobp	A	G	9: 120,168,006	T68A	probably benign	Het
Myh11	T	C	16: 14,218,046	E1006G	probably damaging	Het
Ncstn	A	G	1: 172,082,599		probably null	Het
Olfr1089	A	T	2: 86,733,585	V9E	probably damaging	Het
Olfr340	A	G	2: 36,452,597	D4G	probably benign	Het
Phip	A	T	9: 82,890,454	V1075D	possibly damaging	Het
Serpinb1a	C	T	13: 32,850,393	S5N	probably damaging	Het
Slc15a3	A	G	19: 10,853,170	N295S	probably benign	Het
Trmt13	A	C	3: 116,590,228		probably null	Het
Trp63	A	C	16: 25,820,384		probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het

Other mutations in Fndc3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Fndc3b	APN	3	27538012	missense	probably benign	0.40
IGL00848:Fndc3b	APN	3	27451509	missense	probably damaging	1.00
IGL01099:Fndc3b	APN	3	27463817	missense	probably benign	0.10
IGL01459:Fndc3b	APN	3	27461740	missense	probably benign	0.11
IGL01583:Fndc3b	APN	3	27428995	missense	probably damaging	1.00
IGL01736:Fndc3b	APN	3	27467403	missense	probably damaging	1.00
IGL02154:Fndc3b	APN	3	27538117	missense	probably damaging	0.99
IGL02377:Fndc3b	APN	3	27620652	missense	probably damaging	1.00
IGL02508:Fndc3b	APN	3	27458751	missense	probably damaging	1.00
IGL02834:Fndc3b	APN	3	27508503	missense	probably damaging	1.00
IGL02974:Fndc3b	APN	3	27488276	missense	probably damaging	1.00
IGL02999:Fndc3b	APN	3	27538239	missense	probably damaging	1.00
IGL03083:Fndc3b	APN	3	27467427	missense	probably benign	0.10
R0040:Fndc3b	UTSW	3	27556117	splice site	probably null
R0040:Fndc3b	UTSW	3	27556117	splice site	probably null
R0101:Fndc3b	UTSW	3	27458808	missense	probably damaging	1.00
R0279:Fndc3b	UTSW	3	27457006	missense	probably benign	0.30
R0281:Fndc3b	UTSW	3	27457006	missense	probably benign	0.30
R0325:Fndc3b	UTSW	3	27467430	missense	probably damaging	1.00
R0398:Fndc3b	UTSW	3	27461779	missense	probably benign	0.19
R1334:Fndc3b	UTSW	3	27458851	missense	probably damaging	1.00
R1464:Fndc3b	UTSW	3	27440185	splice site	probably benign
R1961:Fndc3b	UTSW	3	27456451	nonsense	probably null
R1993:Fndc3b	UTSW	3	27419400	missense	probably benign
R2087:Fndc3b	UTSW	3	27451554	missense	probably benign	0.00
R2113:Fndc3b	UTSW	3	27643036	missense	probably damaging	1.00
R2258:Fndc3b	UTSW	3	27440160	missense	possibly damaging	0.93
R2437:Fndc3b	UTSW	3	27451332	missense	probably damaging	0.99
R2930:Fndc3b	UTSW	3	27470286	missense	probably benign
R2997:Fndc3b	UTSW	3	27468872	missense	probably benign	0.00
R3151:Fndc3b	UTSW	3	27419503	missense	possibly damaging	0.93
R3782:Fndc3b	UTSW	3	27459986	missense	possibly damaging	0.81
R4255:Fndc3b	UTSW	3	27501407	missense	possibly damaging	0.77
R4628:Fndc3b	UTSW	3	27556128	missense	probably benign	0.19
R4747:Fndc3b	UTSW	3	27428965	missense	probably damaging	0.98
R4849:Fndc3b	UTSW	3	27459948	missense	probably damaging	1.00
R5185:Fndc3b	UTSW	3	27457070	missense	probably benign	0.14
R5291:Fndc3b	UTSW	3	27642995	missense	probably benign	0.39
R5392:Fndc3b	UTSW	3	27465787	nonsense	probably null
R5540:Fndc3b	UTSW	3	27501502	missense	probably damaging	1.00
R5554:Fndc3b	UTSW	3	27643013	missense	possibly damaging	0.69
R5635:Fndc3b	UTSW	3	27541931	missense	probably damaging	1.00
R5639:Fndc3b	UTSW	3	27426153	missense	probably damaging	0.98
R5678:Fndc3b	UTSW	3	27429023	missense	probably benign
R5732:Fndc3b	UTSW	3	27461773	missense	probably damaging	1.00
R5880:Fndc3b	UTSW	3	27428903	missense	probably damaging	1.00
R6539:Fndc3b	UTSW	3	27538057	missense	probably benign	0.22
R7038:Fndc3b	UTSW	3	27501469	missense	probably benign	0.23
R7102:Fndc3b	UTSW	3	27470234	missense	possibly damaging	0.73
R7203:Fndc3b	UTSW	3	27456485	missense	probably benign	0.00
R7472:Fndc3b	UTSW	3	27461744	missense	probably benign	0.00
X0028:Fndc3b	UTSW	3	27451434	missense	possibly damaging	0.72
Z1088:Fndc3b	UTSW	3	27465808	missense	possibly damaging	0.93

Posted On

2015-04-16