Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Fbln7'

194663

Institutional Source

Beutler Lab

Gene Symbol

Fbln7

Ensembl Gene

ENSMUSG00000027386

Gene Name

fibulin 7

Synonyms

1600015H20Rik

MMRRC Submission

039800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128862981-128897034 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 128893762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105953 (fasta)

Gene Model

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

AlphaFold

Q501P1

Predicted Effect

probably benign
Transcript: ENSMUST00000028864

SMART Domains

Protein: ENSMUSP00000028864
Gene: ENSMUSG00000027386

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

SMART Domains

Protein: ENSMUSP00000105953
Gene: ENSMUSG00000027386

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,646,257 (GRCm38)	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325 (GRCm38)	K1119N	probably damaging	Het
Abcb10	C	T	8: 123,962,052 (GRCm38)	G495D	probably damaging	Het
Abcc9	T	C	6: 142,627,468 (GRCm38)		probably benign	Het
Akap3	A	G	6: 126,865,846 (GRCm38)	E476G	possibly damaging	Het
Aldh3b1	A	G	19: 3,918,740 (GRCm38)	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,124,226 (GRCm38)	E148K	probably damaging	Het
Ascc3	T	C	10: 50,700,490 (GRCm38)	V847A	probably damaging	Het
Best3	A	G	10: 117,023,978 (GRCm38)	N381S	probably benign	Het
Blm	A	T	7: 80,513,370 (GRCm38)	S78T	probably benign	Het
Bmpr2	T	A	1: 59,868,361 (GRCm38)	L871Q	probably damaging	Het
Car13	T	A	3: 14,650,735 (GRCm38)	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,826,480 (GRCm38)	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 50,792,111 (GRCm38)	M165V	probably benign	Het
Cd4	A	T	6: 124,866,655 (GRCm38)	M431K	possibly damaging	Het
Cdh7	C	T	1: 110,052,876 (GRCm38)	T178I	probably damaging	Het
Ceacam3	C	T	7: 17,158,376 (GRCm38)	T348I	probably damaging	Het
Cfap54	C	T	10: 92,904,263 (GRCm38)		probably null	Het
Clcn6	A	T	4: 148,014,301 (GRCm38)		probably null	Het
Csf3	A	G	11: 98,702,420 (GRCm38)	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,704,109 (GRCm38)		probably benign	Het
Cyp2c69	A	G	19: 39,876,371 (GRCm38)	I221T	probably benign	Het
Dgcr2	T	C	16: 17,857,251 (GRCm38)		probably benign	Het
Dhcr7	T	C	7: 143,847,513 (GRCm38)	F474S	probably damaging	Het
Dnah1	T	C	14: 31,310,882 (GRCm38)	I399V	probably null	Het
Efcab14	T	A	4: 115,752,991 (GRCm38)	L183Q	probably damaging	Het
Evx2	A	G	2: 74,659,157 (GRCm38)	V88A	probably benign	Het
Exph5	A	G	9: 53,373,809 (GRCm38)	N730S	probably benign	Het
Farsb	T	A	1: 78,466,983 (GRCm38)	K196I	probably benign	Het
Fhdc1	A	G	3: 84,448,778 (GRCm38)	F453S	probably damaging	Het
Gast	T	A	11: 100,336,858 (GRCm38)	W89R	probably damaging	Het
Gata2	A	G	6: 88,205,255 (GRCm38)	S402G	probably benign	Het
Gin1	T	A	1: 97,792,437 (GRCm38)	S386T	probably benign	Het
Golgb1	A	G	16: 36,916,001 (GRCm38)	E1870G	probably damaging	Het
Hivep3	T	A	4: 120,097,571 (GRCm38)	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,928,760 (GRCm38)	R486*	probably null	Het
Ifi209	G	A	1: 173,641,162 (GRCm38)	S186N	probably benign	Het
Ifih1	C	T	2: 62,606,394 (GRCm38)	A562T	probably damaging	Het
Itch	T	C	2: 155,172,561 (GRCm38)	L106S	probably damaging	Het
Itga4	T	A	2: 79,315,706 (GRCm38)		probably null	Het
Kdm4c	A	G	4: 74,280,997 (GRCm38)	S141G	possibly damaging	Het
Kirrel1	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Klra3	T	C	6: 130,330,263 (GRCm38)		probably null	Het
Lama2	G	C	10: 27,208,407 (GRCm38)	F922L	probably benign	Het
Lama2	A	T	10: 27,208,406 (GRCm38)	S923T	probably damaging	Het
Llgl1	G	A	11: 60,707,047 (GRCm38)	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,631,681 (GRCm38)	*301W	probably null	Het
Map1lc3b	C	T	8: 121,593,487 (GRCm38)		probably benign	Het
Mbd2	A	G	18: 70,616,619 (GRCm38)	I302V	probably benign	Het
Med27	A	G	2: 29,500,295 (GRCm38)	Y78C	probably damaging	Het
Mei1	C	T	15: 82,112,570 (GRCm38)		probably null	Het
Mideas	G	A	12: 84,158,350 (GRCm38)		probably benign	Het
Miga1	T	C	3: 152,287,554 (GRCm38)	E346G	probably damaging	Het
Myef2	A	G	2: 125,115,443 (GRCm38)	S131P	probably damaging	Het
Myocd	T	C	11: 65,178,701 (GRCm38)	H899R	probably benign	Het
Ncam1	A	G	9: 49,545,256 (GRCm38)		probably benign	Het
Ngf	T	A	3: 102,520,197 (GRCm38)	N87K	possibly damaging	Het
Nol10	T	A	12: 17,416,708 (GRCm38)		probably benign	Het
Nrip2	A	G	6: 128,408,268 (GRCm38)	I221V	probably benign	Het
Nup205	G	A	6: 35,205,431 (GRCm38)	G777D	probably damaging	Het
Or5ac17	A	G	16: 59,215,981 (GRCm38)	F211L	probably benign	Het
Or5b96	A	G	19: 12,889,683 (GRCm38)	V298A	probably damaging	Het
Or6c1	T	A	10: 129,682,212 (GRCm38)	T176S	probably benign	Het
Or7g35	A	T	9: 19,585,386 (GRCm38)	Q283L	probably damaging	Het
Or8d6	G	T	9: 39,942,955 (GRCm38)	D232Y	probably benign	Het
Oxt	A	T	2: 130,576,300 (GRCm38)	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,695,930 (GRCm38)	S2248P	probably benign	Het
Pias1	A	G	9: 62,952,178 (GRCm38)	V16A	probably damaging	Het
Pkp2	T	C	16: 16,262,697 (GRCm38)	S616P	probably damaging	Het
Plch2	T	C	4: 155,000,083 (GRCm38)	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,154,159 (GRCm38)	N540D	probably benign	Het
Ptpn23	G	A	9: 110,391,678 (GRCm38)	H255Y	possibly damaging	Het
Rad21	T	C	15: 51,972,307 (GRCm38)	N237D	probably benign	Het
Ryr3	A	C	2: 112,751,768 (GRCm38)		probably null	Het
Sgk1	C	A	10: 21,997,108 (GRCm38)		probably benign	Het
Slc1a5	G	T	7: 16,797,539 (GRCm38)	A490S	probably damaging	Het
Slc5a8	T	C	10: 88,919,464 (GRCm38)	Y478H	probably benign	Het
Slc5a8	T	A	10: 88,919,466 (GRCm38)	Y478*	probably null	Het
Slc9a3	A	T	13: 74,163,071 (GRCm38)	M562L	probably benign	Het
Spmip4	A	G	6: 50,591,821 (GRCm38)		probably benign	Het
Thsd7a	G	A	6: 12,555,715 (GRCm38)	R57*	probably null	Het
Tiam1	T	C	16: 89,860,279 (GRCm38)	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,724,366 (GRCm38)	S47P	probably damaging	Het
Trim39	C	T	17: 36,263,940 (GRCm38)	R190Q	probably damaging	Het
Ttc32	A	T	12: 9,035,073 (GRCm38)	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,965,721 (GRCm38)	T3304A	probably benign	Het
Wdr35	A	C	12: 9,012,728 (GRCm38)	D638A	probably damaging	Het
Wwc1	G	T	11: 35,861,844 (GRCm38)	P797T	probably benign	Het
Zan	T	A	5: 137,464,518 (GRCm38)	T800S	unknown	Het
Zbbx	A	G	3: 75,083,619 (GRCm38)		probably benign	Het
Zup1	T	C	10: 33,935,176 (GRCm38)	M291V	probably damaging	Het

Other mutations in Fbln7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Fbln7	APN	2	128,893,851 (GRCm38)	missense	possibly damaging	0.93
IGL02161:Fbln7	APN	2	128,889,791 (GRCm38)	missense	probably benign	0.23
IGL02383:Fbln7	APN	2	128,895,557 (GRCm38)	missense	probably benign	0.00
IGL03273:Fbln7	APN	2	128,895,470 (GRCm38)	missense	probably benign	0.00
R0463:Fbln7	UTSW	2	128,877,511 (GRCm38)	missense	probably benign	0.06
R0541:Fbln7	UTSW	2	128,877,534 (GRCm38)	splice site	probably benign
R1036:Fbln7	UTSW	2	128,893,895 (GRCm38)	missense	possibly damaging	0.84
R1381:Fbln7	UTSW	2	128,877,379 (GRCm38)	missense	probably damaging	1.00
R1466:Fbln7	UTSW	2	128,877,429 (GRCm38)	missense	probably benign	0.00
R1466:Fbln7	UTSW	2	128,877,429 (GRCm38)	missense	probably benign	0.00
R1584:Fbln7	UTSW	2	128,877,429 (GRCm38)	missense	probably benign	0.00
R1855:Fbln7	UTSW	2	128,893,835 (GRCm38)	missense	possibly damaging	0.65
R2065:Fbln7	UTSW	2	128,877,466 (GRCm38)	missense	probably damaging	0.99
R2066:Fbln7	UTSW	2	128,877,466 (GRCm38)	missense	probably damaging	0.99
R2067:Fbln7	UTSW	2	128,877,466 (GRCm38)	missense	probably damaging	0.99
R4666:Fbln7	UTSW	2	128,894,910 (GRCm38)	splice site	probably null
R4679:Fbln7	UTSW	2	128,894,886 (GRCm38)	missense	probably damaging	1.00
R4694:Fbln7	UTSW	2	128,880,425 (GRCm38)	splice site	probably null
R5933:Fbln7	UTSW	2	128,877,498 (GRCm38)	missense	probably benign
R6211:Fbln7	UTSW	2	128,895,340 (GRCm38)	missense	probably damaging	1.00
R6606:Fbln7	UTSW	2	128,877,376 (GRCm38)	missense	possibly damaging	0.71
R7519:Fbln7	UTSW	2	128,893,865 (GRCm38)	missense	probably benign	0.00
R9205:Fbln7	UTSW	2	128,895,248 (GRCm38)	missense	probably null	1.00
R9208:Fbln7	UTSW	2	128,895,423 (GRCm38)	missense	probably damaging	1.00
R9645:Fbln7	UTSW	2	128,877,396 (GRCm38)	missense	probably damaging	1.00
R9717:Fbln7	UTSW	2	128,877,394 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCCATTGCTGAAGATGAGGAGAGC -3'
(R):5'- CACTCACATGAGGTCAGAAGGCAC -3'

Sequencing Primer
(F):5'- GTACCAGACTCACTAACCTTTGTAG -3'
(R):5'- ACCTCATCATTCTTGAATGGGGAC -3'

Posted On

2014-05-23