Mutagenetix > Incidental Mutation

Incidental Mutation 'R0457:Fndc7'

41199

Institutional Source

Beutler Lab

Gene Symbol

Fndc7

Ensembl Gene

ENSMUSG00000045326

Gene Name

fibronectin type III domain containing 7

Synonyms

E230011A21Rik

MMRRC Submission

038657-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0457 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108760994-108797324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108783861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 249 (S249R)

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: S249R

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

SMART Domains

Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: S249R

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: S249R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: S249R

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,844,054 (GRCm39)	I249M	possibly damaging	Het
Adcy5	T	C	16: 35,094,915 (GRCm39)	S691P	probably benign	Het
Ajm1	G	T	2: 25,468,358 (GRCm39)	R518S	possibly damaging	Het
Aspscr1	A	G	11: 120,568,444 (GRCm39)	E12G	probably benign	Het
Atp2a2	T	C	5: 122,607,777 (GRCm39)	Q244R	probably benign	Het
Birc6	A	G	17: 74,959,023 (GRCm39)	M3818V	probably benign	Het
Birc6	C	T	17: 74,969,620 (GRCm39)	A4230V	probably damaging	Het
Bub1b	T	C	2: 118,440,340 (GRCm39)	F148S	probably damaging	Het
C1ra	T	C	6: 124,499,712 (GRCm39)	S633P	probably benign	Het
Cacna2d1	A	G	5: 16,472,414 (GRCm39)	T274A	probably damaging	Het
Cmya5	A	G	13: 93,232,095 (GRCm39)	W998R	possibly damaging	Het
Crbn	T	C	6: 106,758,018 (GRCm39)	K404R	probably benign	Het
Cryga	T	C	1: 65,142,204 (GRCm39)	Y63C	probably damaging	Het
Csmd1	C	A	8: 16,551,407 (GRCm39)		probably null	Het
Defa-ps1	A	T	8: 22,185,758 (GRCm39)		noncoding transcript	Het
Dnajc10	T	A	2: 80,175,290 (GRCm39)	V559D	possibly damaging	Het
Dock1	A	T	7: 134,739,874 (GRCm39)	E1423D	possibly damaging	Het
Dpf3	A	T	12: 83,319,179 (GRCm39)	S44T	probably damaging	Het
Dyrk3	A	T	1: 131,064,094 (GRCm39)	V31D	possibly damaging	Het
F5	T	C	1: 164,021,769 (GRCm39)	S1415P	probably benign	Het
Fam186b	A	C	15: 99,169,166 (GRCm39)	I927S	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fer1l6	G	A	15: 58,509,943 (GRCm39)		probably null	Het
Ganab	A	G	19: 8,884,614 (GRCm39)	E139G	possibly damaging	Het
Gbp5	A	G	3: 142,213,518 (GRCm39)	D478G	probably damaging	Het
Gm17324	T	A	9: 78,355,580 (GRCm39)	M1K	probably null	Het
Gtpbp6	T	A	5: 110,254,608 (GRCm39)	R126S	probably damaging	Het
Hapln4	G	A	8: 70,541,122 (GRCm39)	W385*	probably null	Het
Hmcn2	T	A	2: 31,305,296 (GRCm39)		probably null	Het
Hsp90ab1	A	G	17: 45,879,914 (GRCm39)	V534A	probably damaging	Het
Kat6b	C	A	14: 21,720,598 (GRCm39)	T1650K	probably damaging	Het
Kpna1	T	A	16: 35,823,275 (GRCm39)	D42E	probably benign	Het
Lrrc14b	A	G	13: 74,509,279 (GRCm39)	M376T	probably benign	Het
Lrrc40	A	G	3: 157,760,201 (GRCm39)		probably null	Het
Ltv1	T	C	10: 13,067,887 (GRCm39)	T34A	probably benign	Het
Mga	T	A	2: 119,746,969 (GRCm39)	N373K	probably damaging	Het
Msh3	A	T	13: 92,357,505 (GRCm39)	M101K	probably damaging	Het
Mthfd2l	T	C	5: 91,168,065 (GRCm39)	M320T	possibly damaging	Het
Mug1	G	A	6: 121,838,514 (GRCm39)	E506K	probably benign	Het
Ngb	T	C	12: 87,147,503 (GRCm39)	D54G	probably damaging	Het
Ntrk1	A	G	3: 87,699,014 (GRCm39)	F84L	probably benign	Het
Or1j18	A	T	2: 36,624,545 (GRCm39)	I71F	probably benign	Het
Or52n2b	T	A	7: 104,566,180 (GRCm39)	T108S	probably benign	Het
Phf12	T	A	11: 77,908,994 (GRCm39)	I358N	possibly damaging	Het
Plec	A	G	15: 76,061,801 (GRCm39)	F2577S	probably damaging	Het
Polr1c	T	A	17: 46,558,689 (GRCm39)	Y36F	probably benign	Het
Prkd1	A	T	12: 50,413,155 (GRCm39)	M672K	probably damaging	Het
Prob1	T	C	18: 35,785,539 (GRCm39)	Y905C	probably damaging	Het
Ptpn23	T	A	9: 110,215,361 (GRCm39)	H1433L	possibly damaging	Het
Rnf11	A	T	4: 109,314,149 (GRCm39)	L80Q	probably damaging	Het
Sbp	G	A	17: 24,164,286 (GRCm39)	G183D	probably benign	Het
Scgb2b7	A	T	7: 31,403,437 (GRCm39)	C90S	possibly damaging	Het
Slc4a9	T	C	18: 36,668,471 (GRCm39)	L710P	probably damaging	Het
Spire1	T	A	18: 67,685,670 (GRCm39)	I35F	probably damaging	Het
Sptbn2	T	C	19: 4,795,966 (GRCm39)	V1715A	possibly damaging	Het
St7	T	C	6: 17,819,281 (GRCm39)	F62L	probably damaging	Het
Svep1	C	T	4: 58,118,136 (GRCm39)	G862D	probably damaging	Het
Syne1	A	T	10: 4,972,041 (GRCm39)	M8789K	probably damaging	Het
Synpo2	A	G	3: 122,906,421 (GRCm39)	L965P	probably damaging	Het
Trhde	A	T	10: 114,284,167 (GRCm39)	M772K	probably benign	Het
Ttn	T	A	2: 76,608,851 (GRCm39)	K15976*	probably null	Het
Unc13a	A	C	8: 72,110,645 (GRCm39)		probably null	Het
Vcan	T	C	13: 89,851,318 (GRCm39)	E1214G	possibly damaging	Het
Vmn1r29	T	C	6: 58,285,072 (GRCm39)	V264A	probably benign	Het
Vmn1r60	T	A	7: 5,548,118 (GRCm39)		probably benign	Het
Wdr90	C	T	17: 26,079,459 (GRCm39)	R225H	probably benign	Het
Wnk1	G	A	6: 119,946,293 (GRCm39)	T620I	probably damaging	Het
Zan	C	T	5: 137,405,968 (GRCm39)		probably benign	Het
Zfp37	A	T	4: 62,109,902 (GRCm39)	C387*	probably null	Het
Zfp521	T	C	18: 13,977,897 (GRCm39)	T839A	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
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
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'- ATGGCAGCCACTCTGGTCATCAAC -3'
(R):5'- ATACGGCAGAGGTCGCATAGCTAC -3'

Sequencing Primer
(F):5'- ACTCTGGTCATCAACCCTGC -3'
(R):5'- GGCCATGAGGTTATCAATCCC -3'

Posted On

2013-05-23