Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01459:Fndc3b'

87933

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01459

Quality Score

Status

Chromosome

Chromosomal Location

27470311-27765456 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27515889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 639 (H639L)

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: H639L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041495
Gene: ENSMUSG00000039286
AA Change: H639L

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: H639L

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000141620
Gene: ENSMUSG00000039286
AA Change: H639L

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2a2	A	G	5: 122,607,715 (GRCm39)	S265P	probably benign	Het
Brwd1	A	G	16: 95,848,620 (GRCm39)	F520L	probably damaging	Het
Cdh5	A	T	8: 104,864,449 (GRCm39)	D470V	probably damaging	Het
Cdr2l	A	G	11: 115,281,378 (GRCm39)	R41G	probably damaging	Het
Csrnp1	C	T	9: 119,802,024 (GRCm39)	C345Y	probably damaging	Het
Dscaml1	T	A	9: 45,653,981 (GRCm39)	Y1419*	probably null	Het
Entpd3	T	C	9: 120,391,007 (GRCm39)	S420P	probably damaging	Het
Epb41	A	G	4: 131,691,439 (GRCm39)		probably benign	Het
Erg	A	G	16: 95,162,141 (GRCm39)	S322P	probably damaging	Het
Grwd1	C	T	7: 45,479,834 (GRCm39)		probably null	Het
Kbtbd8	A	G	6: 95,099,789 (GRCm39)	N356D	probably benign	Het
Kif15	A	G	9: 122,804,820 (GRCm39)	E189G	probably damaging	Het
Kif2b	T	C	11: 91,467,849 (GRCm39)	K145E	possibly damaging	Het
Kif5c	A	G	2: 49,625,569 (GRCm39)	D613G	probably benign	Het
Lipe	T	G	7: 25,082,967 (GRCm39)	Q457P	probably damaging	Het
Lrp1b	A	T	2: 40,750,726 (GRCm39)	I2946N	probably damaging	Het
Mtf2	C	T	5: 108,228,809 (GRCm39)	P42S	probably damaging	Het
Neb	A	G	2: 52,066,804 (GRCm39)	S5886P	probably damaging	Het
Nmu	A	G	5: 76,506,196 (GRCm39)		probably null	Het
Nup153	T	C	13: 46,866,402 (GRCm39)	E214G	possibly damaging	Het
Or14c44	A	C	7: 86,061,759 (GRCm39)	N104T	probably damaging	Het
Or6c66b	G	A	10: 129,376,410 (GRCm39)	M1I	probably null	Het
Paqr3	T	C	5: 97,243,796 (GRCm39)	D306G	probably benign	Het
Plxna2	A	G	1: 194,446,878 (GRCm39)	D796G	probably benign	Het
Prkra	A	G	2: 76,460,780 (GRCm39)	L306S	probably damaging	Het
Psg20	T	A	7: 18,416,638 (GRCm39)	E159D	probably damaging	Het
Ptchd3	G	T	11: 121,721,246 (GRCm39)	V40L	probably benign	Het
Rfx5	T	C	3: 94,865,086 (GRCm39)		probably benign	Het
Rimbp2	A	G	5: 128,865,275 (GRCm39)		probably null	Het
Slc22a4	C	A	11: 53,877,303 (GRCm39)		probably null	Het
Tars1	A	G	15: 11,391,940 (GRCm39)	V265A	possibly damaging	Het
Tatdn2	T	A	6: 113,686,992 (GRCm39)		probably null	Het
Tenm4	C	T	7: 96,378,592 (GRCm39)	P399L	probably damaging	Het
Tmem135	A	T	7: 88,800,646 (GRCm39)	D325E	probably damaging	Het
Tmprss7	A	T	16: 45,483,706 (GRCm39)	I556N	probably benign	Het
Tom1l2	C	T	11: 60,171,095 (GRCm39)	G23S	probably damaging	Het
Ubr2	A	G	17: 47,241,435 (GRCm39)		probably benign	Het
Vmn1r197	T	C	13: 22,512,241 (GRCm39)	I54T	probably benign	Het
Vmn2r116	T	C	17: 23,603,903 (GRCm39)	C43R	probably damaging	Het
Vps33a	A	G	5: 123,673,371 (GRCm39)	L405P	probably benign	Het
Zfp473	C	T	7: 44,388,987 (GRCm39)	D45N	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
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
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

Posted On

2013-11-18