Mutagenetix > Incidental Mutation

Incidental Mutation 'R8023:Fndc7'

617511

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 #

R8023 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108853678-108890008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108867145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 599 (C599Y)

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: C513Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: C513Y

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: C599Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: C599Y

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: C599Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: C599Y

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg2	A	G	17: 56,845,448	Y665H	probably damaging	Het
Agbl4	T	A	4: 111,617,148	V378E	probably benign	Het
Card9	T	C	2: 26,357,315	D274G	probably benign	Het
Ccnc	T	C	4: 21,747,578		probably null	Het
Col1a2	T	G	6: 4,533,847	S843A	unknown	Het
Cux1	T	A	5: 136,373,397	I111F	probably damaging	Het
Fam24b	A	C	7: 131,326,140	S107A	probably benign	Het
Gm3604	G	A	13: 62,369,869	A225V	probably damaging	Het
Gm498	T	C	7: 143,891,791	S192P	probably damaging	Het
Grhl3	A	G	4: 135,550,329	V475A	probably benign	Het
Heg1	T	A	16: 33,730,525	V958E	possibly damaging	Het
Hibch	T	C	1: 52,860,038	M30T	probably benign	Het
Hist2h2ac	A	G	3: 96,220,790	S19P	unknown	Het
Hk2	T	A	6: 82,728,809	M838L	probably benign	Het
Hpd	A	G	5: 123,176,234	F206S	probably damaging	Het
Il34	C	T	8: 110,742,652	C177Y	probably damaging	Het
Il6ra	A	G	3: 89,912,953		probably null	Het
Itpr2	A	G	6: 146,187,490	I2240T	probably damaging	Het
Med24	A	G	11: 98,718,495		probably null	Het
Mpz	A	G	1: 171,160,033	D246G	probably damaging	Het
Ncam1	C	A	9: 49,509,757	A753S	probably benign	Het
Ndufs2	A	T	1: 171,236,694	M375K	probably damaging	Het
Obox2	A	G	7: 15,397,220	K84E	possibly damaging	Het
Olfr1183	A	G	2: 88,461,678	I132V	probably benign	Het
Olfr18	C	T	9: 20,314,249	V224I	probably benign	Het
Olfr639	A	G	7: 104,011,799	I301T	probably damaging	Het
Pds5a	A	T	5: 65,637,898	L665Q	probably damaging	Het
Prr29	A	G	11: 106,376,273	E38G	probably benign	Het
Ptpn3	G	C	4: 57,248,688	D215E	probably benign	Het
Ptprq	G	A	10: 107,652,616	Q987*	probably null	Het
Ranbp6	T	C	19: 29,811,822	S377G	possibly damaging	Het
Rps6ka1	A	T	4: 133,867,195	L168Q	probably damaging	Het
Sall1	A	G	8: 89,032,543	I311T	probably damaging	Het
Satb2	T	C	1: 56,891,231	Y211C	probably damaging	Het
Sis	T	A	3: 72,952,480	Y314F	probably damaging	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc6a20a	T	C	9: 123,660,592	N129D	probably damaging	Het
Slu7	G	A	11: 43,446,148	R572Q	probably benign	Het
Tbx6	C	T	7: 126,782,859	A123V	possibly damaging	Het
Tcn2	A	T	11: 3,927,579	I23K	possibly damaging	Het
Tiparp	A	G	3: 65,531,803	D180G	probably benign	Het
Tln2	A	G	9: 67,224,064	L1400P	probably damaging	Het
Ttf2	T	C	3: 100,956,255	T588A	probably benign	Het
Ttn	A	G	2: 76,939,220	V2741A	unknown	Het
Txlna	A	T	4: 129,639,485	S83R	probably damaging	Het
Vmn2r16	C	T	5: 109,340,406	Q382*	probably null	Het
Vmn2r76	A	G	7: 86,229,820	V424A	probably benign	Het
Zfc3h1	T	A	10: 115,420,648	L1508I	probably damaging	Het
Zfp189	G	A	4: 49,530,312	G472R	probably damaging	Het
Zfp462	G	A	4: 55,073,106		probably null	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
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
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'- TCCTTAGCAATTTTAGTGGTTTGAA -3'
(R):5'- TTAGTGCCCTGCTGTCCAG -3'

Sequencing Primer
(F):5'- CATTTAATCCTAGCAGTCAGGAGGC -3'
(R):5'- TGTCCAGCTGGTCTGACAG -3'

Posted On

2020-01-23