Mutagenetix > Incidental Mutation

Incidental Mutation 'R7425:Fndc7'

575973

Institutional Source

Beutler Lab

Gene Symbol

Fndc7

Ensembl Gene

ENSMUSG00000045326

Gene Name

fibronectin type III domain containing 7

Synonyms

E230011A21Rik

MMRRC Submission

045503-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108760994-108797324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 108783975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 211 (F211L)

Ref Sequence

ENSEMBL: ENSMUSP00000099680 (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: F211L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: F211L

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: F211L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: F211L

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,456 (GRCm39)	E215G	probably benign	Het
Adam8	T	A	7: 139,572,394 (GRCm39)		probably benign	Het
Ankrd35	A	G	3: 96,592,104 (GRCm39)	S797G	not run	Het
Anxa3	T	A	5: 96,982,680 (GRCm39)	H259Q	probably benign	Het
Ap3d1	T	A	10: 80,557,426 (GRCm39)	Q302L	probably damaging	Het
Atg2a	T	C	19: 6,305,682 (GRCm39)	V1294A	probably benign	Het
Atp13a5	G	A	16: 29,116,278 (GRCm39)	Q613*	probably null	Het
Bltp1	T	A	3: 37,002,490 (GRCm39)	H1478Q	probably benign	Het
Bltp1	A	T	3: 37,037,543 (GRCm39)	H2448L	probably benign	Het
Bmpr2	T	G	1: 59,906,510 (GRCm39)	N534K	probably benign	Het
C1qbp	T	C	11: 70,869,072 (GRCm39)		probably null	Het
C1qbp	G	T	11: 70,869,073 (GRCm39)		probably null	Het
C1ql3	T	G	2: 13,015,229 (GRCm39)	K144Q	possibly damaging	Het
C3	T	C	17: 57,511,039 (GRCm39)	M1656V	possibly damaging	Het
Cand1	A	T	10: 119,052,148 (GRCm39)	Y252N	probably benign	Het
Capn13	T	C	17: 73,625,053 (GRCm39)	I632M	probably benign	Het
Catsperb	A	G	12: 101,557,757 (GRCm39)	E776G	probably damaging	Het
Ccnl1	A	T	3: 65,856,179 (GRCm39)	V242D	probably damaging	Het
Cd68	T	C	11: 69,555,938 (GRCm39)	D200G	probably benign	Het
Cela3a	T	C	4: 137,132,899 (GRCm39)	N118D	probably benign	Het
Celsr2	A	G	3: 108,309,773 (GRCm39)	C1609R	probably damaging	Het
Cep85l	G	C	10: 53,177,666 (GRCm39)	Q458E	probably damaging	Het
Cnga1	T	G	5: 72,766,868 (GRCm39)	E190D	probably benign	Het
Cntnap3	G	A	13: 64,906,066 (GRCm39)	R847C	probably damaging	Het
Cntrob	G	A	11: 69,205,560 (GRCm39)	Q425*	probably null	Het
Commd9	G	A	2: 101,730,245 (GRCm39)	W128*	probably null	Het
Csnk1a1	C	T	18: 61,718,330 (GRCm39)	S352L	unknown	Het
Dact2	A	G	17: 14,416,593 (GRCm39)	S536P	probably damaging	Het
Ddx25	A	G	9: 35,465,882 (GRCm39)	I113T	probably benign	Het
Dscam	T	A	16: 96,430,598 (GRCm39)	D1630V	probably damaging	Het
Fryl	T	C	5: 73,262,091 (GRCm39)	T559A	probably damaging	Het
Hpx	C	A	7: 105,241,068 (GRCm39)	D402Y	probably damaging	Het
Ints13	A	G	6: 146,476,198 (GRCm39)		probably null	Het
Ipcef1	T	C	10: 6,906,066 (GRCm39)	K76E	probably damaging	Het
Kcnb2	A	C	1: 15,780,031 (GRCm39)	Q301P	probably damaging	Het
Lamp3	C	T	16: 19,518,362 (GRCm39)		probably null	Het
Lmod2	A	T	6: 24,603,475 (GRCm39)	H150L	probably benign	Het
Lrch3	T	C	16: 32,826,077 (GRCm39)	F718S	probably damaging	Het
Mms22l	T	C	4: 24,596,287 (GRCm39)	V1082A	probably benign	Het
Nbas	G	T	12: 13,519,881 (GRCm39)	V1598L	probably damaging	Het
Nrxn3	C	T	12: 89,479,870 (GRCm39)	R671*	probably null	Het
Or4c110	A	T	2: 88,832,544 (GRCm39)	F29L		Het
Or4c58	A	G	2: 89,674,789 (GRCm39)	L176P	probably damaging	Het
Or52e8	A	T	7: 104,624,268 (GRCm39)	L312*	probably null	Het
Or5a3	A	C	19: 12,400,204 (GRCm39)	H177P	probably damaging	Het
Or6d14	A	T	6: 116,533,398 (GRCm39)	E4V	possibly damaging	Het
Pcdhga6	T	A	18: 37,841,619 (GRCm39)	N446K	probably damaging	Het
Phlpp1	A	T	1: 106,320,303 (GRCm39)	I1433F	probably benign	Het
Pla2g6	G	A	15: 79,192,933 (GRCm39)	R245C	probably damaging	Het
Rgl3	G	A	9: 21,888,123 (GRCm39)	Q464*	probably null	Het
Ryr2	T	C	13: 11,720,530 (GRCm39)	D2706G	probably benign	Het
Sbf2	G	A	7: 109,974,984 (GRCm39)	Q718*	probably null	Het
Sdad1	T	C	5: 92,447,980 (GRCm39)	T252A	probably benign	Het
Sgk1	T	C	10: 21,870,009 (GRCm39)	L16P	probably damaging	Het
Slc38a8	A	G	8: 120,212,327 (GRCm39)	S339P	possibly damaging	Het
Slc44a4	T	C	17: 35,140,667 (GRCm39)	S287P	possibly damaging	Het
Syne1	T	C	10: 5,375,760 (GRCm39)	I111V	probably damaging	Het
Synm	A	C	7: 67,383,194 (GRCm39)	S1489R	probably damaging	Het
Tfb2m	A	G	1: 179,365,269 (GRCm39)	F232L	probably benign	Het
Traf3	A	T	12: 111,227,095 (GRCm39)	K328*	probably null	Het
Trim38	C	A	13: 23,972,365 (GRCm39)	Q229K	probably benign	Het
Vcan	A	G	13: 89,837,951 (GRCm39)	I2531T	probably damaging	Het
Virma	T	A	4: 11,546,211 (GRCm39)	I1683N	possibly damaging	Het
Vmn1r18	A	T	6: 57,367,551 (GRCm39)	M1K	probably null	Het
Vmn2r87	T	C	10: 130,314,761 (GRCm39)	N275S	probably damaging	Het
Vps13a	T	A	19: 16,701,066 (GRCm39)	H701L	probably benign	Het
Vrk3	T	A	7: 44,420,348 (GRCm39)		probably null	Het
Zfp993	T	A	4: 146,742,098 (GRCm39)	S141T	possibly damaging	Het

Other mutations in Fndc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02077:Fndc7	APN	3	108,790,784 (GRCm39)	missense	probably benign	0.17
IGL02823:Fndc7	APN	3	108,776,487 (GRCm39)	missense	probably damaging	1.00
IGL02896:Fndc7	APN	3	108,770,247 (GRCm39)	missense	probably benign	0.04
IGL03196:Fndc7	APN	3	108,790,760 (GRCm39)	missense	probably damaging	1.00
IGL03343:Fndc7	APN	3	108,774,624 (GRCm39)	missense	probably damaging	1.00
IGL03377:Fndc7	APN	3	108,783,848 (GRCm39)	missense	probably benign	0.12
R0240:Fndc7	UTSW	3	108,766,235 (GRCm39)	splice site	probably benign
R0324:Fndc7	UTSW	3	108,784,015 (GRCm39)	splice site	probably null
R0457:Fndc7	UTSW	3	108,783,861 (GRCm39)	missense	probably benign	0.02
R0630:Fndc7	UTSW	3	108,783,931 (GRCm39)	missense	probably damaging	1.00
R0891:Fndc7	UTSW	3	108,777,904 (GRCm39)	missense	possibly damaging	0.54
R1752:Fndc7	UTSW	3	108,776,646 (GRCm39)	missense	probably benign	0.14
R1772:Fndc7	UTSW	3	108,777,850 (GRCm39)	missense	probably damaging	1.00
R1923:Fndc7	UTSW	3	108,784,003 (GRCm39)	missense	probably benign	0.00
R1957:Fndc7	UTSW	3	108,790,825 (GRCm39)	missense	probably damaging	0.98
R3801:Fndc7	UTSW	3	108,776,464 (GRCm39)	missense	possibly damaging	0.95
R4592:Fndc7	UTSW	3	108,766,218 (GRCm39)	missense	probably damaging	1.00
R4650:Fndc7	UTSW	3	108,770,135 (GRCm39)	missense	probably benign	0.15
R4652:Fndc7	UTSW	3	108,770,135 (GRCm39)	missense	probably benign	0.15
R4791:Fndc7	UTSW	3	108,783,975 (GRCm39)	missense	probably benign	0.00
R4933:Fndc7	UTSW	3	108,783,986 (GRCm39)	missense	probably benign	0.01
R5004:Fndc7	UTSW	3	108,790,789 (GRCm39)	missense	probably damaging	1.00
R5042:Fndc7	UTSW	3	108,770,102 (GRCm39)	missense	probably damaging	1.00
R5054:Fndc7	UTSW	3	108,788,663 (GRCm39)	missense	probably damaging	0.97
R5175:Fndc7	UTSW	3	108,776,482 (GRCm39)	missense	probably benign	0.04
R5325:Fndc7	UTSW	3	108,790,765 (GRCm39)	missense	probably damaging	1.00
R5571:Fndc7	UTSW	3	108,763,724 (GRCm39)	missense	possibly damaging	0.68
R5638:Fndc7	UTSW	3	108,770,208 (GRCm39)	missense	possibly damaging	0.69
R5846:Fndc7	UTSW	3	108,788,707 (GRCm39)	missense	probably damaging	1.00
R6488:Fndc7	UTSW	3	108,777,891 (GRCm39)	missense	probably damaging	0.99
R6737:Fndc7	UTSW	3	108,779,594 (GRCm39)	missense	probably damaging	1.00
R6993:Fndc7	UTSW	3	108,783,907 (GRCm39)	missense	probably benign	0.00
R6998:Fndc7	UTSW	3	108,783,964 (GRCm39)	missense	probably benign	0.02
R6999:Fndc7	UTSW	3	108,783,964 (GRCm39)	missense	probably benign	0.02
R7000:Fndc7	UTSW	3	108,783,964 (GRCm39)	missense	probably benign	0.02
R7001:Fndc7	UTSW	3	108,783,964 (GRCm39)	missense	probably benign	0.02
R7181:Fndc7	UTSW	3	108,788,640 (GRCm39)	critical splice donor site	probably null
R7324:Fndc7	UTSW	3	108,779,537 (GRCm39)	missense	probably benign	0.06
R7631:Fndc7	UTSW	3	108,776,568 (GRCm39)	missense	probably damaging	1.00
R7702:Fndc7	UTSW	3	108,770,129 (GRCm39)	missense	probably damaging	0.98
R7713:Fndc7	UTSW	3	108,777,979 (GRCm39)	missense	possibly damaging	0.90
R7909:Fndc7	UTSW	3	108,770,232 (GRCm39)	missense	probably benign	0.04
R7946:Fndc7	UTSW	3	108,779,452 (GRCm39)	missense	possibly damaging	0.78
R8023:Fndc7	UTSW	3	108,774,461 (GRCm39)	missense	probably damaging	1.00
R8694:Fndc7	UTSW	3	108,779,622 (GRCm39)	nonsense	probably null
R8708:Fndc7	UTSW	3	108,774,528 (GRCm39)	missense	probably benign	0.00
R9325:Fndc7	UTSW	3	108,790,834 (GRCm39)	missense	possibly damaging	0.55
R9608:Fndc7	UTSW	3	108,774,597 (GRCm39)	missense	probably damaging	1.00
Z1088:Fndc7	UTSW	3	108,790,816 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGTGCAGAGCAGGACTTG -3'
(R):5'- TACAGCAATGGCCATGAGG -3'

Sequencing Primer
(F):5'- AGCATCGTTATTTGCTGAGACAG -3'
(R):5'- GCAATGGCCATGAGGTTATCAATCC -3'

Posted On

2019-10-07