Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00848:Fndc3b'

10796

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 #

IGL00848

Quality Score

Status

Chromosome

Chromosomal Location

27416162-27711307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27451509 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 870 (L870Q)

Ref Sequence

ENSEMBL: ENSMUSP00000141620 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000046157
AA Change: L870Q

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

SMART Domains

Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: L870Q

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: L870Q

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

SMART Domains

Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: L870Q

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	G	7: 131,246,724	E869G	probably damaging	Het
A930011G23Rik	A	G	5: 99,222,378	F508L	probably damaging	Het
Adgra3	C	T	5: 50,001,949	G320R	probably damaging	Het
Arhgef40	G	A	14: 51,987,427	V10M	probably damaging	Het
Birc6	C	T	17: 74,696,393	Q4739*	probably null	Het
Cdh20	C	T	1: 104,934,256	H54Y	probably benign	Het
Cep112	A	G	11: 108,472,060	D202G	probably damaging	Het
Cfhr2	T	A	1: 139,831,232	T27S	probably benign	Het
Copa	T	A	1: 172,110,688	C523S	possibly damaging	Het
Copz1	T	A	15: 103,298,749		probably benign	Het
Crybg1	A	C	10: 43,967,818		probably null	Het
Cyp3a11	A	T	5: 145,862,465	I304N	probably damaging	Het
Eif2d	C	T	1: 131,164,436	Q315*	probably null	Het
Fgfr4	A	G	13: 55,159,170	E224G	probably damaging	Het
Glt8d2	C	T	10: 82,662,165		probably null	Het
Gpat3	A	T	5: 100,893,144	M357L	probably benign	Het
Hrnr	A	T	3: 93,322,897	K147N	unknown	Het
Kbtbd3	T	A	9: 4,331,184	S519R	probably damaging	Het
Kcnv1	A	G	15: 45,113,228	I221T	probably benign	Het
Khdrbs2	C	T	1: 32,472,752	A266V	probably benign	Het
Lmtk2	A	G	5: 144,176,398	E1312G	probably benign	Het
Mb21d1	G	A	9: 78,435,488	P344L	probably damaging	Het
Mos	T	C	4: 3,871,459	N119S	probably damaging	Het
Mtpap	C	T	18: 4,380,717	H132Y	probably benign	Het
Myo18b	G	A	5: 112,871,485	T642I	probably damaging	Het
Myo5c	A	G	9: 75,289,181	E1303G	probably benign	Het
Napepld	A	T	5: 21,683,193	M86K	probably benign	Het
Nvl	T	A	1: 181,105,125	D709V	probably damaging	Het
Pak1ip1	A	T	13: 41,012,623	E341D	probably benign	Het
Pgghg	G	A	7: 140,942,404	G32D	probably damaging	Het
Phlpp1	G	A	1: 106,376,255	R1096H	probably damaging	Het
Phlpp1	C	T	1: 106,339,448	T697M	probably damaging	Het
Piwil4	T	G	9: 14,727,411	T273P	probably damaging	Het
Pkd2l1	A	T	19: 44,192,279		probably benign	Het
Polr3b	A	G	10: 84,680,377	D623G	probably damaging	Het
Pop1	A	G	15: 34,508,729	T317A	probably benign	Het
Prune2	A	T	19: 17,119,118	K662I	probably damaging	Het
Ptger4	T	C	15: 5,235,108	I356V	probably benign	Het
Rhbdd1	T	C	1: 82,340,444	L16P	possibly damaging	Het
Rps11	C	T	7: 45,123,501	R22Q	probably benign	Het
Sfxn2	A	T	19: 46,590,157	I204F	probably damaging	Het
Slc26a9	C	T	1: 131,757,528	S365F	probably damaging	Het
Slc47a2	C	T	11: 61,302,233	V565M	probably benign	Het
Spns1	T	C	7: 126,371,242		probably null	Het
Stk3	T	A	15: 35,114,622	E48V	possibly damaging	Het
Svs3b	T	C	2: 164,256,101	E100G	probably damaging	Het
Tjp1	T	C	7: 65,303,194	Q1464R	probably benign	Het
Tspan10	T	C	11: 120,444,270	S69P	probably benign	Het
Usp32	T	C	11: 85,051,181		probably benign	Het
Vps45	G	T	3: 96,056,973		probably benign	Het
Zfp106	A	T	2: 120,512,727	N1790K	probably damaging	Het
Zfp704	A	T	3: 9,565,239	S21T	possibly 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
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
IGL02470:Fndc3b	APN	3	27461720	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
R7796:Fndc3b	UTSW	3	27461743	missense	probably benign	0.00
R7861:Fndc3b	UTSW	3	27468999	missense	possibly damaging	0.62
R8105:Fndc3b	UTSW	3	27470225	missense	probably benign	0.01
R8119:Fndc3b	UTSW	3	27451344	missense	probably benign	0.01
X0028:Fndc3b	UTSW	3	27451434	missense	possibly damaging	0.72
Z1088:Fndc3b	UTSW	3	27465808	missense	possibly damaging	0.93

Posted On

2012-12-06