Mutagenetix > Incidental Mutation

Incidental Mutation 'R6211:Fbln7'

503437

Institutional Source

Beutler Lab

Gene Symbol

Fbln7

Ensembl Gene

ENSMUSG00000027386

Gene Name

fibulin 7

Synonyms

1600015H20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128705791-128738954 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 128737260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 358 (M358I)

Ref Sequence

ENSEMBL: ENSMUSP00000105953 (fasta)

Gene Model

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

AlphaFold

Q501P1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028864
AA Change: M358I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028864
Gene: ENSMUSG00000027386
AA Change: M358I

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 damaging
Transcript: ENSMUST00000110324
AA Change: M358I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105953
Gene: ENSMUSG00000027386
AA Change: M358I

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

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,881,503 (GRCm39)	W391R	probably damaging	Het
Arl6ip1	A	T	7: 117,726,473 (GRCm39)	S18R	probably benign	Het
Armc3	G	A	2: 19,301,614 (GRCm39)		probably null	Het
Ccdc162	G	T	10: 41,506,141 (GRCm39)	S883*	probably null	Het
Cd300lg	A	G	11: 101,944,995 (GRCm39)	M358V	possibly damaging	Het
Cdh23	A	G	10: 60,246,600 (GRCm39)	V949A	possibly damaging	Het
Cenpo	C	T	12: 4,266,733 (GRCm39)	S126N	probably benign	Het
Chd3	A	T	11: 69,243,503 (GRCm39)	D1366E	probably damaging	Het
Chd4	A	G	6: 125,078,248 (GRCm39)	E169G	possibly damaging	Het
Clec1b	A	G	6: 129,378,440 (GRCm39)	T24A	possibly damaging	Het
Clhc1	A	G	11: 29,528,145 (GRCm39)	I558V	probably damaging	Het
Col5a2	T	A	1: 45,415,826 (GRCm39)	R1440S	probably damaging	Het
Cops3	A	G	11: 59,708,727 (GRCm39)		probably benign	Het
Cxcr4	A	G	1: 128,517,187 (GRCm39)	V158A	probably damaging	Het
Dnah7a	A	G	1: 53,458,795 (GRCm39)	M3781T	probably damaging	Het
Dnai7	C	T	6: 145,146,217 (GRCm39)	R95Q	probably damaging	Het
Elovl5	C	A	9: 77,888,784 (GRCm39)	T217K	probably damaging	Het
Fbxl13	C	T	5: 21,689,019 (GRCm39)	R763Q	possibly damaging	Het
Gabrr3	C	A	16: 59,268,471 (GRCm39)	N361K	probably benign	Het
Garre1	A	T	7: 33,938,429 (GRCm39)	H1035Q	possibly damaging	Het
Gbp7	A	G	3: 142,251,754 (GRCm39)	M534V	probably benign	Het
Hcar2	G	A	5: 124,003,017 (GRCm39)	T162I	probably benign	Het
Hdc	A	T	2: 126,435,897 (GRCm39)	L658Q	probably damaging	Het
Hivep3	A	G	4: 119,955,602 (GRCm39)	Y1306C	probably damaging	Het
Homer3	C	T	8: 70,738,174 (GRCm39)	R49C	probably damaging	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Iqgap3	A	G	3: 87,998,822 (GRCm39)	N308D	probably benign	Het
Itga8	G	A	2: 12,198,320 (GRCm39)	T555M	probably damaging	Het
Lrfn5	G	T	12: 61,886,256 (GRCm39)	V15L	probably benign	Het
Lrrk1	T	C	7: 65,952,458 (GRCm39)	K493E	possibly damaging	Het
Lyzl6	A	G	11: 103,525,889 (GRCm39)	I77T	probably damaging	Het
Mavs	G	T	2: 131,082,311 (GRCm39)	R65L	probably damaging	Het
Mdn1	T	G	4: 32,696,269 (GRCm39)	D1217E	probably benign	Het
Or12d13	A	T	17: 37,647,599 (GRCm39)	F175I	possibly damaging	Het
Or52h1	A	T	7: 103,828,954 (GRCm39)	Y220*	probably null	Het
Or9i1	A	G	19: 13,839,938 (GRCm39)	I260M	probably benign	Het
Otof	C	A	5: 30,529,244 (GRCm39)	V1762L	probably damaging	Het
Pcdha12	T	C	18: 37,153,374 (GRCm39)	L31P	probably damaging	Het
Pxk	C	A	14: 8,163,952 (GRCm38)	P515T	probably damaging	Het
Qrich2	A	T	11: 116,344,368 (GRCm39)	D1759E	probably benign	Het
Rps6ka1	A	T	4: 133,596,617 (GRCm39)	F33Y	probably damaging	Het
Rxfp2	G	A	5: 149,967,591 (GRCm39)		probably null	Het
Slc23a4	A	T	6: 34,933,896 (GRCm39)	I202N	probably damaging	Het
Slc24a5	A	T	2: 124,930,171 (GRCm39)	I491F	probably benign	Het
Slco1a1	T	A	6: 141,854,775 (GRCm39)	K625N	probably benign	Het
Snx31	A	G	15: 36,547,030 (GRCm39)	V51A	probably damaging	Het
Sox6	G	T	7: 115,400,697 (GRCm39)	H48Q	probably damaging	Het
Tas2r109	A	T	6: 132,957,587 (GRCm39)	Y114*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Timm13	A	C	10: 80,736,314 (GRCm39)		probably null	Het
Tpsb2	G	A	17: 25,586,737 (GRCm39)	A250T	possibly damaging	Het
Trpm6	T	C	19: 18,760,492 (GRCm39)	I131T	probably damaging	Het
Vars2	A	T	17: 35,976,554 (GRCm39)		probably null	Het
Vmn2r35	T	A	7: 7,789,527 (GRCm39)	I737F	probably damaging	Het
Wdr46	C	A	17: 34,163,459 (GRCm39)	T339K	probably damaging	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
IGL02383:Fbln7	APN	2	128,737,477 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TACTAGCGTCTATGGGAGCATG -3'
(R):5'- TTCCGACATGTCTACGTCAAC -3'

Sequencing Primer
(F):5'- GCATGGCCTCTTCAGAGAATAG -3'
(R):5'- TCAACCTCCAGAGTCTGAGG -3'

Posted On

2018-02-27