Mutagenetix > Incidental Mutation

Incidental Mutation 'R6993:Fndc7'

543953

Institutional Source

Beutler Lab

Gene Symbol

Fndc7

Ensembl Gene

ENSMUSG00000045326

Gene Name

fibronectin type III domain containing 7

Synonyms

E230011A21Rik

MMRRC Submission

045099-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108760994-108797324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108783907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 234 (V234A)

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: V234A

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

SMART Domains

Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: V234A

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: V234A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: V234A

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: 99.7%
20x: 99.1%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,975,053 (GRCm39)	E10G	possibly damaging	Het
Akap9	A	G	5: 4,115,866 (GRCm39)	I3429V	possibly damaging	Het
Braf	T	A	6: 39,620,097 (GRCm39)	I441F	probably damaging	Het
C5ar1	A	T	7: 15,982,837 (GRCm39)	V61E	probably damaging	Het
Camk2a	C	A	18: 61,076,247 (GRCm39)		probably benign	Het
Cd163	A	G	6: 124,294,673 (GRCm39)	Y579C	probably damaging	Het
Celf1	T	C	2: 90,840,821 (GRCm39)	Y363H	probably damaging	Het
Cntn3	T	C	6: 102,255,365 (GRCm39)	T178A	probably damaging	Het
Cryab	C	T	9: 50,664,748 (GRCm39)	P58S	probably benign	Het
Ctsf	G	T	19: 4,908,511 (GRCm39)	R290L	probably benign	Het
Ctsw	T	A	19: 5,515,865 (GRCm39)	I258F	probably damaging	Het
Dnah7b	T	C	1: 46,234,299 (GRCm39)		probably null	Het
Drg1	TCATCTTCCA	TCA	11: 3,200,294 (GRCm39)		probably null	Het
Etfb	A	G	7: 43,105,978 (GRCm39)	T172A	possibly damaging	Het
Etfdh	A	G	3: 79,519,338 (GRCm39)	Y272H	probably benign	Het
Ewsr1	C	T	11: 5,021,573 (GRCm39)	R454Q	probably benign	Het
F2rl2	T	A	13: 95,837,642 (GRCm39)	I229N	probably damaging	Het
Fam162a	A	T	16: 35,870,215 (GRCm39)	I88N	probably damaging	Het
Fastkd5	A	G	2: 130,458,459 (GRCm39)	S44P	probably benign	Het
Fat3	T	G	9: 15,830,517 (GRCm39)	S4326R	probably damaging	Het
Fbf1	T	C	11: 116,043,610 (GRCm39)	K400E	probably benign	Het
Gfi1	T	A	5: 107,865,634 (GRCm39)	H481L	probably damaging	Het
Gm5591	T	A	7: 38,218,647 (GRCm39)	H742L	probably benign	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
H2-DMb1	A	C	17: 34,376,324 (GRCm39)	T148P	possibly damaging	Het
H2-T3	A	G	17: 36,497,962 (GRCm39)	L317P	probably damaging	Het
Hes3	T	C	4: 152,371,380 (GRCm39)	T190A	probably benign	Het
Hivep1	C	T	13: 42,312,190 (GRCm39)	L1477F	possibly damaging	Het
Insr	C	T	8: 3,308,752 (GRCm39)	G95S	probably damaging	Het
Irf9	A	G	14: 55,846,414 (GRCm39)	I394V	probably benign	Het
Kat2b	T	C	17: 53,945,550 (GRCm39)	L323P	probably damaging	Het
Kdr	T	C	5: 76,133,071 (GRCm39)	D69G	probably benign	Het
Krt1c	C	T	15: 101,724,395 (GRCm39)	E290K	probably damaging	Het
Krtap4-6	G	T	11: 99,556,545 (GRCm39)	R61S	unknown	Het
Ldc1	A	G	4: 130,112,106 (GRCm39)	L192P	probably damaging	Het
Lrrc27	A	T	7: 138,822,540 (GRCm39)	K477M	probably damaging	Het
Lvrn	T	C	18: 47,015,365 (GRCm39)	V579A	probably benign	Het
Malrd1	A	T	2: 16,155,602 (GRCm39)	I2004L	unknown	Het
Mast4	A	T	13: 102,872,482 (GRCm39)	N2103K	probably benign	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Myo18a	T	A	11: 77,749,900 (GRCm39)		probably benign	Het
Or10d5	T	A	9: 39,861,933 (GRCm39)	M45L	probably benign	Het
Or52ab2	G	T	7: 102,969,998 (GRCm39)		probably benign	Het
Pcdhga10	A	G	18: 37,882,309 (GRCm39)	Y690C	probably damaging	Het
Pdcd2	A	G	17: 15,747,343 (GRCm39)	Y65H	probably damaging	Het
Ppp1r12a	A	G	10: 108,076,698 (GRCm39)	E309G	probably benign	Het
Psmb8	A	G	17: 34,418,617 (GRCm39)	D123G	probably damaging	Het
Ptcd3	A	T	6: 71,862,299 (GRCm39)	W513R	probably damaging	Het
Ptx4	G	A	17: 25,343,898 (GRCm39)	V383I	possibly damaging	Het
Ric1	T	C	19: 29,564,013 (GRCm39)	L589S	probably damaging	Het
Rmnd5b	A	G	11: 51,515,427 (GRCm39)		probably benign	Het
Sec16a	A	T	2: 26,313,586 (GRCm39)	S1925T	probably damaging	Het
Slc16a11	T	A	11: 70,106,842 (GRCm39)	M360K	possibly damaging	Het
Slc19a2	T	A	1: 164,088,391 (GRCm39)	F79I	probably benign	Het
Slc2a6	G	T	2: 26,917,255 (GRCm39)	S45R	probably damaging	Het
Slco1a7	G	A	6: 141,711,468 (GRCm39)	T81I	possibly damaging	Het
Sppl3	T	A	5: 115,220,349 (GRCm39)	M87K	probably damaging	Het
Tbcel	A	T	9: 42,327,413 (GRCm39)	L330*	probably null	Het
Tbx5	A	T	5: 120,009,454 (GRCm39)	Y321F	possibly damaging	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tesk1	A	G	4: 43,447,006 (GRCm39)	T465A	probably benign	Het
Unc45a	A	T	7: 79,975,403 (GRCm39)	Y934N	probably damaging	Het
Unc80	A	T	1: 66,588,952 (GRCm39)	Q1039L	possibly damaging	Het
Vmn2r112	T	C	17: 22,822,195 (GRCm39)	L291P	probably benign	Het
Wwc2	A	T	8: 48,300,500 (GRCm39)	F988I	unknown	Het
Zfp947	G	A	17: 22,364,961 (GRCm39)	P238S	probably benign	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
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
R7425:Fndc7	UTSW	3	108,783,975 (GRCm39)	missense	probably benign	0.00
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'- TTATGGCAGCCACTCTGGTC -3'
(R):5'- ATTCAGGTCCTAGGGTCTCTTATC -3'

Sequencing Primer
(F):5'- GGTCATCAACCCTGCAGG -3'
(R):5'- AGGTCCTAGGGTCTCTTATCTCCTG -3'

Posted On

2019-05-13