Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02383:Fbln7'

291466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbln7

Ensembl Gene

ENSMUSG00000027386

Gene Name

fibulin 7

Synonyms

1600015H20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02383

Quality Score

Status

Chromosome

Chromosomal Location

128705791-128738954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128737477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 431 (V431I)

Ref Sequence

ENSEMBL: ENSMUSP00000105953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028864] [ENSMUST00000110324]

AlphaFold

Q501P1

Predicted Effect

probably benign
Transcript: ENSMUST00000028864
AA Change: V431I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000028864
Gene: ENSMUSG00000027386
AA Change: V431I

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
CCP	81	134	7.5e-15	SMART
EGF_CA	136	172	1.46e-7	SMART
low complexity region	177	189	N/A	INTRINSIC
EGF_CA	225	270	2.08e-12	SMART
EGF	274	320	1.95e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110324
AA Change: V431I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000105953
Gene: ENSMUSG00000027386
AA Change: V431I

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
CCP	81	134	7.5e-15	SMART
EGF_CA	136	172	1.46e-7	SMART
low complexity region	177	189	N/A	INTRINSIC
EGF_CA	225	270	2.08e-12	SMART
EGF	274	320	1.95e1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	T	C	6: 133,269,205 (GRCm39)		probably benign	Het
Adap2	C	A	11: 80,051,015 (GRCm39)	A115D	probably damaging	Het
Ankrd1	A	G	19: 36,097,165 (GRCm39)	V6A	probably benign	Het
Apobr	T	A	7: 126,185,779 (GRCm39)	V430E	probably benign	Het
Arhgap28	A	G	17: 68,203,084 (GRCm39)	V123A	probably benign	Het
Atp2b2	A	G	6: 113,790,903 (GRCm39)	V167A	probably damaging	Het
B3galnt2	A	T	13: 14,171,618 (GRCm39)	*505C	probably null	Het
Bcat2	T	A	7: 45,237,431 (GRCm39)	L305Q	probably damaging	Het
Coa8	T	A	12: 111,690,847 (GRCm39)		probably benign	Het
Col9a1	T	C	1: 24,224,339 (GRCm39)	S174P	unknown	Het
Ddx41	A	T	13: 55,680,170 (GRCm39)	D418E	probably benign	Het
Defa40	A	G	8: 21,740,377 (GRCm39)	D61G	probably damaging	Het
Exoc6	T	C	19: 37,566,922 (GRCm39)	F240L	probably benign	Het
Gfral	T	A	9: 76,104,374 (GRCm39)	N213Y	probably damaging	Het
Golgb1	A	G	16: 36,706,562 (GRCm39)	D22G	probably benign	Het
H2-M1	G	A	17: 36,981,141 (GRCm39)	T298I	unknown	Het
Haus3	A	T	5: 34,323,580 (GRCm39)	Y343*	probably null	Het
Hid1	T	C	11: 115,243,446 (GRCm39)	E534G	probably damaging	Het
Il4ra	T	C	7: 125,170,676 (GRCm39)	V196A	probably benign	Het
Itm2b	C	A	14: 73,600,536 (GRCm39)	E255*	probably null	Het
Kidins220	A	T	12: 25,047,332 (GRCm39)		probably benign	Het
Klhl22	T	A	16: 17,594,762 (GRCm39)	F297Y	possibly damaging	Het
Krt9	T	C	11: 100,082,041 (GRCm39)	E253G	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Map3k6	T	A	4: 132,973,932 (GRCm39)		probably null	Het
Med29	C	A	7: 28,086,448 (GRCm39)	R120L	possibly damaging	Het
Napa	C	T	7: 15,846,503 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 26,961,624 (GRCm39)	Y351N	probably benign	Het
Nphs1	C	T	7: 30,181,060 (GRCm39)		probably benign	Het
Or5b94	A	G	19: 12,651,899 (GRCm39)	D110G	probably benign	Het
Prss16	T	C	13: 22,193,697 (GRCm39)	I33V	probably benign	Het
Ripk1	A	G	13: 34,199,227 (GRCm39)	Y193C	probably damaging	Het
Rph3a	C	T	5: 121,102,002 (GRCm39)	R78H	probably damaging	Het
Rrp9	T	A	9: 106,362,471 (GRCm39)	I452N	probably damaging	Het
Ryr2	A	T	13: 11,737,607 (GRCm39)		probably benign	Het
Sec23a	A	G	12: 59,048,813 (GRCm39)	L103P	probably damaging	Het
Slc17a9	A	C	2: 180,377,674 (GRCm39)	D190A	probably benign	Het
Slc44a4	G	A	17: 35,146,686 (GRCm39)	V422I	probably benign	Het
Smc5	C	T	19: 23,191,996 (GRCm39)		probably benign	Het
Tax1bp1	C	T	6: 52,730,351 (GRCm39)	S611F	probably benign	Het
Tmem38b	G	A	4: 53,854,345 (GRCm39)	M192I	probably benign	Het
Unc45a	G	T	7: 79,989,410 (GRCm39)	C34*	probably null	Het
Usp46	T	A	5: 74,190,014 (GRCm39)	M6L	probably benign	Het
Uspl1	G	A	5: 149,150,212 (GRCm39)	V471M	probably damaging	Het
Vmn1r35	T	A	6: 66,655,875 (GRCm39)	Q265L	probably damaging	Het
Vmn1r35	G	T	6: 66,655,876 (GRCm39)	Q265K	probably damaging	Het
Vmn1r50	A	G	6: 90,084,461 (GRCm39)	I69V	possibly damaging	Het
Vps33b	A	G	7: 79,935,082 (GRCm39)		probably null	Het
Xntrpc	A	C	7: 101,742,802 (GRCm39)	D604A	probably damaging	Het
Yeats4	T	A	10: 117,051,716 (GRCm39)	R180S	probably benign	Het

Other mutations in Fbln7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Fbln7	APN	2	128,735,771 (GRCm39)	missense	possibly damaging	0.93
IGL02161:Fbln7	APN	2	128,731,711 (GRCm39)	missense	probably benign	0.23
IGL03273:Fbln7	APN	2	128,737,390 (GRCm39)	missense	probably benign	0.00
R0463:Fbln7	UTSW	2	128,719,431 (GRCm39)	missense	probably benign	0.06
R0541:Fbln7	UTSW	2	128,719,454 (GRCm39)	splice site	probably benign
R1036:Fbln7	UTSW	2	128,735,815 (GRCm39)	missense	possibly damaging	0.84
R1381:Fbln7	UTSW	2	128,719,299 (GRCm39)	missense	probably damaging	1.00
R1466:Fbln7	UTSW	2	128,719,349 (GRCm39)	missense	probably benign	0.00
R1466:Fbln7	UTSW	2	128,719,349 (GRCm39)	missense	probably benign	0.00
R1584:Fbln7	UTSW	2	128,719,349 (GRCm39)	missense	probably benign	0.00
R1769:Fbln7	UTSW	2	128,735,682 (GRCm39)	splice site	probably benign
R1855:Fbln7	UTSW	2	128,735,755 (GRCm39)	missense	possibly damaging	0.65
R2065:Fbln7	UTSW	2	128,719,386 (GRCm39)	missense	probably damaging	0.99
R2066:Fbln7	UTSW	2	128,719,386 (GRCm39)	missense	probably damaging	0.99
R2067:Fbln7	UTSW	2	128,719,386 (GRCm39)	missense	probably damaging	0.99
R4666:Fbln7	UTSW	2	128,736,830 (GRCm39)	splice site	probably null
R4679:Fbln7	UTSW	2	128,736,806 (GRCm39)	missense	probably damaging	1.00
R4694:Fbln7	UTSW	2	128,722,345 (GRCm39)	splice site	probably null
R5933:Fbln7	UTSW	2	128,719,418 (GRCm39)	missense	probably benign
R6211:Fbln7	UTSW	2	128,737,260 (GRCm39)	missense	probably damaging	1.00
R6606:Fbln7	UTSW	2	128,719,296 (GRCm39)	missense	possibly damaging	0.71
R7519:Fbln7	UTSW	2	128,735,785 (GRCm39)	missense	probably benign	0.00
R9205:Fbln7	UTSW	2	128,737,168 (GRCm39)	missense	probably null	1.00
R9208:Fbln7	UTSW	2	128,737,343 (GRCm39)	missense	probably damaging	1.00
R9645:Fbln7	UTSW	2	128,719,316 (GRCm39)	missense	probably damaging	1.00
R9717:Fbln7	UTSW	2	128,719,314 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16