Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Fndc7'

380704

Institutional Source

Beutler Lab

Gene Symbol

Fndc7

Ensembl Gene

ENSMUSG00000045326

Gene Name

fibronectin type III domain containing 7

Synonyms

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108853678-108890008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108876670 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 208 (Q208K)

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: Q208K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: Q208K

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: Q208K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: Q208K

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

0.0709

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	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
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

Predicted Primers

PCR Primer
(F):5'- AGCATCGTTATTTGCTGAGACAG -3'
(R):5'- CAGAGGTCGCATAGCTACAG -3'

Sequencing Primer
(F):5'- GAAATCAGGTACTCTGTTCCACACTG -3'
(R):5'- CAGCAATGGCCATGAGGTTATCAATC -3'

Posted On

2016-04-15