Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02077:Fndc7'

186012

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fndc7

Ensembl Gene

ENSMUSG00000045326

Gene Name

fibronectin type III domain containing 7

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02077

Quality Score

Status

Chromosome

Chromosomal Location

108853678-108890008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108883468 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 81 (T81S)

Ref Sequence

ENSEMBL: ENSMUSP00000136215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053065] [ENSMUST00000102620] [ENSMUST00000180063]

AlphaFold

A2AED3

Predicted Effect

probably benign
Transcript: ENSMUST00000053065
AA Change: T81S

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: T81S

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
FN3	29	102	2.62e-5	SMART
FN3	113	189	1.31e-5	SMART
Blast:FN3	201	274	9e-44	BLAST
FN3	283	360	1.07e-1	SMART
FN3	457	530	5.1e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102620
AA Change: T81S

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: T81S

Domain	Start	End	E-Value	Type
FN3	29	102	2.62e-5	SMART
FN3	113	189	1.31e-5	SMART
FN3	201	275	2.44e-5	SMART
Blast:FN3	287	360	1e-43	BLAST
FN3	369	446	1.07e-1	SMART
FN3	543	616	5.1e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139137

SMART Domains

Protein: ENSMUSP00000117562
Gene: ENSMUSG00000045326

Domain	Start	End	E-Value	Type
Blast:FN3	1	123	3e-27	BLAST
SCOP:d1f6fb2	3	64	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180063
AA Change: T81S

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: T81S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
FN3	29	102	2.62e-5	SMART
FN3	113	189	1.31e-5	SMART
FN3	201	275	2.44e-5	SMART
Blast:FN3	287	360	2e-43	BLAST
FN3	369	446	1.07e-1	SMART
FN3	543	616	5.1e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196867

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap11a	G	T	2: 113,837,471	T395K	possibly damaging	Het
Dopey2	T	C	16: 93,780,760	S58P	probably damaging	Het
F5	T	A	1: 164,198,866	V1669E	probably damaging	Het
Hnf4a	G	T	2: 163,562,607		probably null	Het
Il27	C	T	7: 126,594,879		probably null	Het
Lhcgr	G	A	17: 88,750,130	T311I	probably benign	Het
Mafb	A	G	2: 160,365,767	S304P	probably benign	Het
Mfrp	C	T	9: 44,105,220	T404M	probably damaging	Het
Ntpcr	T	A	8: 125,737,368	Y77*	probably null	Het
Otof	A	G	5: 30,399,235	S301P	probably damaging	Het
Prpf6	G	A	2: 181,640,664	G533R	probably damaging	Het
Prpf8	T	A	11: 75,495,809	H1041Q	probably damaging	Het
Pyurf	T	C	6: 57,689,835	I81V	probably benign	Het
Rsl1d1	A	G	16: 11,194,456		probably benign	Het
Sema6a	A	T	18: 47,283,398	D387E	possibly damaging	Het
Serpinb3a	T	G	1: 107,046,381	T267P	probably damaging	Het
Tgm7	A	T	2: 121,103,835	M192K	probably damaging	Het
Thbs1	G	T	2: 118,113,110	V70L	probably benign	Het
Thsd7b	T	A	1: 129,816,682	I769N	probably damaging	Het
Tlr9	A	G	9: 106,225,505	Y665C	possibly damaging	Het
Ttn	T	C	2: 76,770,162	D18928G	probably damaging	Het
Uggt1	A	G	1: 36,176,794	S131P	probably damaging	Het
Unc80	A	G	1: 66,525,716	N854S	possibly damaging	Het
Vps13b	A	G	15: 35,910,613	T3508A	possibly damaging	Het
Wdr43	G	A	17: 71,640,291	A381T	probably benign	Het
Zfyve26	A	T	12: 79,276,395	M859K	possibly damaging	Het

Other mutations in Fndc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02823:Fndc7	APN	3	108869171	missense	probably damaging	1.00
IGL02896:Fndc7	APN	3	108862931	missense	probably benign	0.04
IGL03196:Fndc7	APN	3	108883444	missense	probably damaging	1.00
IGL03343:Fndc7	APN	3	108867308	missense	probably damaging	1.00
IGL03377:Fndc7	APN	3	108876532	missense	probably benign	0.12
R0240:Fndc7	UTSW	3	108858919	splice site	probably benign
R0324:Fndc7	UTSW	3	108876699	splice site	probably null
R0457:Fndc7	UTSW	3	108876545	missense	probably benign	0.02
R0630:Fndc7	UTSW	3	108876615	missense	probably damaging	1.00
R0891:Fndc7	UTSW	3	108870588	missense	possibly damaging	0.54
R1752:Fndc7	UTSW	3	108869330	missense	probably benign	0.14
R1772:Fndc7	UTSW	3	108870534	missense	probably damaging	1.00
R1923:Fndc7	UTSW	3	108876687	missense	probably benign	0.00
R1957:Fndc7	UTSW	3	108883509	missense	probably damaging	0.98
R3801:Fndc7	UTSW	3	108869148	missense	possibly damaging	0.95
R4592:Fndc7	UTSW	3	108858902	missense	probably damaging	1.00
R4650:Fndc7	UTSW	3	108862819	missense	probably benign	0.15
R4652:Fndc7	UTSW	3	108862819	missense	probably benign	0.15
R4791:Fndc7	UTSW	3	108876659	missense	probably benign	0.00
R4933:Fndc7	UTSW	3	108876670	missense	probably benign	0.01
R5004:Fndc7	UTSW	3	108883473	missense	probably damaging	1.00
R5042:Fndc7	UTSW	3	108862786	missense	probably damaging	1.00
R5054:Fndc7	UTSW	3	108881347	missense	probably damaging	0.97
R5175:Fndc7	UTSW	3	108869166	missense	probably benign	0.04
R5325:Fndc7	UTSW	3	108883449	missense	probably damaging	1.00
R5571:Fndc7	UTSW	3	108856408	missense	possibly damaging	0.68
R5638:Fndc7	UTSW	3	108862892	missense	possibly damaging	0.69
R5846:Fndc7	UTSW	3	108881391	missense	probably damaging	1.00
R6488:Fndc7	UTSW	3	108870575	missense	probably damaging	0.99
R6737:Fndc7	UTSW	3	108872278	missense	probably damaging	1.00
R6993:Fndc7	UTSW	3	108876591	missense	probably benign	0.00
R6998:Fndc7	UTSW	3	108876648	missense	probably benign	0.02
R6999:Fndc7	UTSW	3	108876648	missense	probably benign	0.02
R7000:Fndc7	UTSW	3	108876648	missense	probably benign	0.02
R7001:Fndc7	UTSW	3	108876648	missense	probably benign	0.02
R7181:Fndc7	UTSW	3	108881324	critical splice donor site	probably null
R7324:Fndc7	UTSW	3	108872221	missense	probably benign	0.06
R7425:Fndc7	UTSW	3	108876659	missense	probably benign	0.00
R7631:Fndc7	UTSW	3	108869252	missense	probably damaging	1.00
R7702:Fndc7	UTSW	3	108862813	missense	probably damaging	0.98
R7713:Fndc7	UTSW	3	108870663	missense	possibly damaging	0.90
R7909:Fndc7	UTSW	3	108862916	missense	probably benign	0.04
R7946:Fndc7	UTSW	3	108872136	missense	possibly damaging	0.78
R8023:Fndc7	UTSW	3	108867145	missense	probably damaging	1.00
R8694:Fndc7	UTSW	3	108872306	nonsense	probably null
R8708:Fndc7	UTSW	3	108867212	missense	probably benign	0.00
R9325:Fndc7	UTSW	3	108883518	missense	possibly damaging	0.55
R9608:Fndc7	UTSW	3	108867281	missense	probably damaging	1.00
Z1088:Fndc7	UTSW	3	108883500	missense	probably damaging	1.00

Posted On

2014-05-07