Mutagenetix > Incidental Mutations

Incidental Mutation 'R7702:Fndc7'

594046

Institutional Source

Beutler Lab

Gene Symbol

Fndc7

Ensembl Gene

ENSMUSG00000045326

Gene Name

fibronectin type III domain containing 7

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7702 (G1)

Quality Score

205.009

Status

Validated

Chromosome

Chromosomal Location

108853678-108890008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108862813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 685 (P685H)

Ref Sequence

ENSEMBL: ENSMUSP00000099680 (fasta)

Gene Model

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

AlphaFold

A2AED3

Predicted Effect

probably damaging
Transcript: ENSMUST00000053065
AA Change: P599H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: P599H

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 damaging
Transcript: ENSMUST00000102620
AA Change: P685H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: P685H

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

probably damaging
Transcript: ENSMUST00000180063
AA Change: P685H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: P685H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,276,452		probably null	Het
AU040320	T	A	4: 126,814,373	S261T	probably benign	Het
Banp	T	A	8: 121,978,587	C65*	probably null	Het
Bloc1s5	T	C	13: 38,603,874	D178G	probably benign	Het
Cacna1c	A	G	6: 118,598,766	F1941L		Het
Cd48	A	G	1: 171,695,780	I64V	probably damaging	Het
Cela3a	A	G	4: 137,408,190	S21P	probably benign	Het
Cidec	A	G	6: 113,434,454	Y12H	possibly damaging	Het
Col12a1	C	G	9: 79,681,521	R1104T	probably damaging	Het
Ctsf	T	G	19: 4,856,539	F165V	probably damaging	Het
Cux2	T	C	5: 121,868,585	D874G	possibly damaging	Het
Dbnl	C	T	11: 5,798,048	L298F	probably benign	Het
Dnah1	C	A	14: 31,310,909	V390F	probably benign	Het
Dnah17	T	C	11: 118,025,640	I4236V	probably benign	Het
Dnah17	T	C	11: 118,121,478	D486G	possibly damaging	Het
Dpp6	T	A	5: 27,652,276	D406E	probably benign	Het
Dsp	C	T	13: 38,175,207	A318V	possibly damaging	Het
Duox1	T	C	2: 122,329,639	L745P	possibly damaging	Het
Ell	C	A	8: 70,539,714	A3E	possibly damaging	Het
Fer1l5	T	A	1: 36,420,694	L1832*	probably null	Het
Filip1	G	T	9: 79,820,649	N229K	probably benign	Het
Flg	A	T	3: 93,292,782	H195L	unknown	Het
Ggt1	A	G	10: 75,576,282	N120S	probably benign	Het
Gm4952	A	T	19: 12,627,064	H280L	probably benign	Het
Gm6583	T	C	5: 112,355,197	K214E	probably benign	Het
Golim4	A	T	3: 75,886,784	D551E	probably damaging	Het
Hist2h3b	C	A	3: 96,268,993	Y100*	probably null	Het
Hmbs	A	C	9: 44,336,850		probably null	Het
Ino80	T	C	2: 119,442,573	D474G	probably benign	Het
Ipo4	A	C	14: 55,632,330	H343Q	probably damaging	Het
Jade2	C	T	11: 51,816,917	R823H	probably damaging	Het
Jakmip1	C	T	5: 37,117,497	T453I	probably damaging	Het
Klk6	T	C	7: 43,829,265	S199P	probably damaging	Het
Ltn1	A	T	16: 87,426,278	Y105N	probably damaging	Het
Map3k19	G	T	1: 127,829,090	T394N	probably damaging	Het
Megf6	G	A	4: 154,270,470	D1445N	probably benign	Het
Mmp21	A	G	7: 133,679,062	Y60H	probably damaging	Het
Mylk4	C	T	13: 32,720,602		probably null	Het
Nckipsd	A	T	9: 108,814,017	R38*	probably null	Het
Nob1	G	A	8: 107,413,105	R341*	probably null	Het
Olfr204	A	G	16: 59,314,634	Y258H	probably damaging	Het
Olfr378	T	A	11: 73,433,349		probably benign	Het
Olfr741	A	G	14: 50,486,294	T279A	possibly damaging	Het
Pcdh1	A	G	18: 38,203,516	L22P	unknown	Het
Pebp4	T	A	14: 70,059,607	N198K	probably benign	Het
Pkp4	T	C	2: 59,308,413	S336P	probably damaging	Het
Prr5l	T	A	2: 101,717,097	D361V	probably benign	Het
Ralgapa1	C	G	12: 55,709,555	V1086L	probably damaging	Het
Ralgapa1	T	A	12: 55,709,556	Q1085H	probably damaging	Het
Ryr2	T	C	13: 11,690,333	N2849S	probably damaging	Het
Slc6a18	A	T	13: 73,672,796	L223H	probably damaging	Het
Sqstm1	T	G	11: 50,206,105		probably null	Het
Syne1	T	C	10: 5,245,835	E3945G	probably damaging	Het
Syne2	A	G	12: 75,990,387	Y3780C	probably benign	Het
Tecpr1	A	G	5: 144,203,418	Y840H	probably damaging	Het
Tmem183a	T	C	1: 134,360,801	Q108R	probably benign	Het
Tmtc1	A	T	6: 148,443,917	C95S	probably benign	Het
Trappc8	C	T	18: 20,825,062	V1250I	probably damaging	Het
Tshz1	A	G	18: 84,014,336	V649A	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Vmn1r123	A	C	7: 21,162,377	T65P	probably damaging	Het
Vmn2r63	A	T	7: 42,928,129	H328Q	possibly damaging	Het
Zeb1	T	C	18: 5,766,802	S438P	probably damaging	Het

Other mutations in Fndc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02077:Fndc7	APN	3	108883468	missense	probably benign	0.17
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
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
Z1088:Fndc7	UTSW	3	108883500	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCTGGAACTCTGTAGACCAG -3'
(R):5'- ATAGGTGTCTGTTGCCCAC -3'

Sequencing Primer
(F):5'- AACTCTGTAGACCAGGCTGG -3'
(R):5'- CCACTGGGGGTCAAATTATATAGGC -3'

Posted On

2019-11-12