Mutagenetix > Incidental Mutation

Incidental Mutation 'R6998:Fndc7'

544331

Institutional Source

Beutler Lab

Gene Symbol

Fndc7

Ensembl Gene

ENSMUSG00000045326

Gene Name

fibronectin type III domain containing 7

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108853678-108890008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108876648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 215 (A215V)

Ref Sequence

ENSEMBL: ENSMUSP00000136215 (fasta)

Gene Model

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

AlphaFold

A2AED3

Predicted Effect

probably benign
Transcript: ENSMUST00000053065

SMART Domains

Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326

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: A215V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: A215V

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 benign
Transcript: ENSMUST00000180063
AA Change: A215V

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: A215V

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

Meta Mutation Damage Score

0.1460

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,162,710	R620G	probably benign	Het
Adcy1	A	C	11: 7,079,026	N259H	probably damaging	Het
Ahctf1	G	A	1: 179,770,915	R2*	probably null	Het
Akr1c21	A	G	13: 4,583,851	I306M	probably benign	Het
Alg9	T	A	9: 50,789,621	S230R	possibly damaging	Het
Armt1	T	A	10: 4,453,937	C341S	probably benign	Het
Aspg	T	A	12: 112,112,194	L29M	probably damaging	Het
Aspm	C	T	1: 139,469,472	T934I	probably damaging	Het
C1rl	T	C	6: 124,508,902	S411P	probably damaging	Het
Card14	A	G	11: 119,322,899	E224G	probably damaging	Het
Ccdc88c	T	C	12: 100,916,852	H1587R	probably damaging	Het
Ccp110	A	G	7: 118,732,897	T963A	possibly damaging	Het
Cdk11b	G	A	4: 155,648,343	W546*	probably null	Het
Cyp8b1	T	C	9: 121,915,993	N91S	probably benign	Het
Dab2	G	T	15: 6,424,649	M213I	possibly damaging	Het
Decr1	A	G	4: 15,930,960	V124A	probably damaging	Het
Fbxl13	T	A	5: 21,543,689	I411F	probably damaging	Het
Fbxl13	T	C	5: 21,620,613	I164V	probably null	Het
Garem2	T	C	5: 30,114,170	M210T	possibly damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Ighv1-52	C	A	12: 115,145,492	A115S	probably benign	Het
Igkv6-13	A	G	6: 70,457,589	S91P	probably damaging	Het
Ints8	T	A	4: 11,204,537	E973V	possibly damaging	Het
Itga3	T	C	11: 95,051,462	K972R	probably benign	Het
Klhl33	A	T	14: 50,893,021	F339I	probably benign	Het
Krt79	T	C	15: 101,937,872	M214V	probably benign	Het
Lgsn	A	T	1: 31,204,193	H452L	probably benign	Het
Limd2	C	T	11: 106,158,690	G124D	probably benign	Het
Luzp1	T	C	4: 136,543,444	S993P	probably damaging	Het
Maml2	C	T	9: 13,621,185		probably benign	Het
Mbtd1	A	T	11: 93,924,612	H342L	probably damaging	Het
Mfhas1	C	A	8: 35,591,356	P995Q	probably damaging	Het
Muc5ac	T	C	7: 141,818,714	F3399S	possibly damaging	Het
Napb	T	C	2: 148,700,425	Y205C	probably damaging	Het
Odf2	G	T	2: 29,912,617	A298S	probably benign	Het
Olfr1082	A	T	2: 86,594,144	M228K	probably damaging	Het
Olfr1193	A	T	2: 88,678,508	I218F	probably benign	Het
Olfr740	A	T	14: 50,453,433	Y127F	probably benign	Het
Pcsk5	T	C	19: 17,473,112	D1124G	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pik3c2b	T	G	1: 133,102,372	I1457S	probably benign	Het
Pole2	T	C	12: 69,213,906	T167A	possibly damaging	Het
Rfx7	T	A	9: 72,618,505	S992R	probably damaging	Het
Ryr2	G	T	13: 11,712,166	S2436R	probably damaging	Het
Sgo2a	A	G	1: 58,016,640	D661G	probably damaging	Het
Sh3glb2	T	A	2: 30,355,321	T49S	probably damaging	Het
Slc16a10	T	C	10: 40,056,503	K354R	possibly damaging	Het
Slc6a6	C	A	6: 91,752,438	T568K	probably benign	Het
Sptbn1	T	C	11: 30,100,633	T2319A	probably damaging	Het
Tbl1xr1	T	A	3: 22,179,290	Y15N	probably damaging	Het
Thyn1	T	C	9: 27,006,442	S160P	probably damaging	Het
Tshz1	A	T	18: 84,015,841	D147E	probably benign	Het
Vmn2r50	T	G	7: 10,037,757	R672S	probably benign	Het
Zfp663	A	T	2: 165,354,002	I99N	possibly 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
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'- TTGGTGCAGAGCAGGACTTG -3'
(R):5'- ATGGCCATGAGGTTATCAATCCC -3'

Sequencing Primer
(F):5'- AGGACTTGCTGGACCCAG -3'
(R):5'- ATGAGGTTATCAATCCCCAGAC -3'

Posted On

2019-05-13