Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Fndc7'

390692

Institutional Source

Beutler Lab

Gene Symbol

Fndc7

Ensembl Gene

ENSMUSG00000045326

Gene Name

fibronectin type III domain containing 7

Synonyms

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108853678-108890008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108881347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 193 (S193P)

Ref Sequence

ENSEMBL: ENSMUSP00000136215 (fasta)

Gene Model

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

AlphaFold

A2AED3

Predicted Effect

probably damaging
Transcript: ENSMUST00000053065
AA Change: S193P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: S193P

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: S193P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: S193P

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 damaging
Transcript: ENSMUST00000180063
AA Change: S193P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: S193P

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

Meta Mutation Damage Score

0.1431

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	G	13: 59,689,501	Y257H	probably damaging	Het
Adam28	C	T	14: 68,617,715	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 27,101,720	E627K	probably damaging	Het
Atad5	T	A	11: 80,094,676	S196R	probably benign	Het
Bcam	T	A	7: 19,756,860		probably benign	Het
Birc6	A	G	17: 74,655,325	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,838,212	I190V	probably benign	Het
Ccdc8	T	C	7: 16,995,045	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,841,104	R68G	probably damaging	Het
Dock3	T	C	9: 106,937,906	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,661,159	V271L	possibly damaging	Het
Eif2s2	A	C	2: 154,892,670		probably null	Het
Fzr1	G	A	10: 81,371,419		probably benign	Het
Gm17472	T	C	6: 42,981,004	I69T	probably damaging	Het
Gm5039	T	C	12: 88,321,301	I61V	probably benign	Het
Gmppa	C	A	1: 75,439,371	Y137*	probably null	Het
Gpr45	A	G	1: 43,032,649	I151V	probably benign	Het
H1f0	G	A	15: 79,028,773	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,841,856	V114I	probably benign	Het
Impa2	C	A	18: 67,306,727	P98Q	probably damaging	Het
Kazn	T	C	4: 142,108,646	N573D	unknown	Het
Kcna2	A	T	3: 107,104,340	D79V	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kif13a	A	G	13: 46,802,646	Y561H	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra1	T	A	6: 130,375,284	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,680,042	R318S	probably damaging	Het
Mgat4d	G	A	8: 83,368,208		probably null	Het
Mtor	T	A	4: 148,556,855		probably null	Het
Nostrin	A	T	2: 69,175,713	Q247L	possibly damaging	Het
Obscn	T	C	11: 59,073,617	E3033G	probably damaging	Het
Pam	C	A	1: 97,821,917	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,637,814	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ptar1	G	T	19: 23,694,365	R44L	probably damaging	Het
Rad51c	T	C	11: 87,397,754	H201R	probably benign	Het
Rims2	A	T	15: 39,517,869		probably null	Het
Rnf219	C	T	14: 104,508,030	G70E	probably damaging	Het
Rpl22l1	T	G	3: 28,806,836	S67A	possibly damaging	Het
Rps10	A	G	17: 27,630,480	S143P	probably damaging	Het
Rundc1	T	C	11: 101,425,141	V13A	probably benign	Het
Sephs2	C	A	7: 127,273,392	M176I	probably benign	Het
Serpina16	C	T	12: 103,674,930	V179I	probably benign	Het
Serpini2	T	A	3: 75,259,477	T158S	probably damaging	Het
Slc12a3	A	G	8: 94,346,351	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,814,602	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,430,917		probably benign	Het
Tbr1	A	T	2: 61,806,002	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,270,082		probably null	Het
Tlr12	T	A	4: 128,617,270	K396*	probably null	Het
Tmppe	A	G	9: 114,405,958	I442V	probably benign	Het
Tubb3	T	C	8: 123,420,868	V180A	probably damaging	Het
Vmn1r222	A	G	13: 23,232,731	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,451,446	V482L	possibly damaging	Het
Zfp184	G	T	13: 21,959,282	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,189,793	V270E	probably damaging	Het
Zfp985	A	T	4: 147,582,981	Y102F	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
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

Predicted Primers

PCR Primer
(F):5'- ATTCAACTACTGCCGAGGGG -3'
(R):5'- ACTCAATCCTTGTGAGCTGGG -3'

Sequencing Primer
(F):5'- GGCAAGGCCCTATAAATAACTTC -3'
(R):5'- AGCTGGGACGCCGTATACATG -3'

Posted On

2016-06-06