Mutagenetix > Incidental Mutation

Incidental Mutation 'R1855:Fbln7'

206007

Institutional Source

Beutler Lab

Gene Symbol

Fbln7

Ensembl Gene

ENSMUSG00000027386

Gene Name

fibulin 7

Synonyms

1600015H20Rik

MMRRC Submission

039879-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1855 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128862981-128897034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128893835 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 248 (T248A)

Ref Sequence

ENSEMBL: ENSMUSP00000105953 (fasta)

Gene Model

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

AlphaFold

Q501P1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028864
AA Change: T248A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028864
Gene: ENSMUSG00000027386
AA Change: T248A

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

possibly damaging
Transcript: ENSMUST00000110324
AA Change: T248A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105953
Gene: ENSMUSG00000027386
AA Change: T248A

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

Meta Mutation Damage Score

0.0861

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,747,971	L285Q	probably damaging	Het
Acaca	T	C	11: 84,371,554	L1994P	probably damaging	Het
Adamts9	A	G	6: 92,901,369		probably benign	Het
Aff3	T	C	1: 38,210,304	E574G	probably benign	Het
Ankrd1	T	C	19: 36,119,235	K64R	probably damaging	Het
Arhgap23	T	C	11: 97,448,697	I163T	probably damaging	Het
Ascc3	A	T	10: 50,617,922	Q151L	probably benign	Het
Atad2	G	A	15: 58,097,289	P971L	possibly damaging	Het
C1s1	A	C	6: 124,534,356		probably null	Het
Ccdc150	T	C	1: 54,367,910		probably benign	Het
Cdhr3	A	T	12: 33,060,352	I311N	probably damaging	Het
Chad	T	A	11: 94,565,477	L127H	probably damaging	Het
Clasp1	G	A	1: 118,508,894	A303T	probably damaging	Het
Clptm1	A	G	7: 19,638,209	V234A	probably benign	Het
Cnih3	C	A	1: 181,454,621	S140*	probably null	Het
Col24a1	G	A	3: 145,459,140	G1033D	probably damaging	Het
Csnk1a1	T	A	18: 61,575,427		probably null	Het
Cttnbp2	T	A	6: 18,378,413	I1475L	probably benign	Het
Dnah5	T	C	15: 28,411,669	V3728A	possibly damaging	Het
Dock9	C	A	14: 121,640,159	V391F	probably damaging	Het
Ehmt2	A	T	17: 34,910,776	I949F	probably damaging	Het
Eif4g1	C	A	16: 20,687,161	T1025K	possibly damaging	Het
Enpp2	C	T	15: 54,845,823	E803K	probably damaging	Het
Esrrg	A	T	1: 188,211,098	M423L	probably damaging	Het
Etnppl	A	T	3: 130,620,722	I89F	probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam122b	T	A	X: 53,254,056	Q201H	probably benign	Het
Galnt9	C	T	5: 110,615,524	T465M	probably damaging	Het
Grcc10	A	G	6: 124,740,578	V57A	probably benign	Het
Herc1	T	A	9: 66,391,426	M614K	possibly damaging	Het
Itch	C	T	2: 155,172,454		probably benign	Het
Kdm6b	C	A	11: 69,407,286	A167S	probably damaging	Het
Kidins220	C	T	12: 25,056,591	R1348C	probably damaging	Het
Kif17	T	C	4: 138,288,271	L577P	probably benign	Het
Krt25	A	T	11: 99,318,315	L258Q	probably damaging	Het
March10	T	C	11: 105,390,392	T356A	probably benign	Het
Mical2	G	A	7: 112,345,282	A940T	probably benign	Het
Mrpl4	A	G	9: 21,003,371	E81G	possibly damaging	Het
Mtcl1	A	G	17: 66,379,514	V447A	probably benign	Het
Mtor	C	A	4: 148,553,089	N2502K	probably benign	Het
Notch4	G	A	17: 34,580,962	D966N	probably benign	Het
Oip5	C	A	2: 119,611,790	K214N	probably benign	Het
Olfr160	A	T	9: 37,711,970	F103Y	possibly damaging	Het
Pak7	A	T	2: 136,087,509	S585T	probably benign	Het
Pard3	T	A	8: 127,447,812		probably null	Het
Pcnx2	A	T	8: 125,807,996		probably benign	Het
Pcsk5	T	C	19: 17,515,192	Y939C	possibly damaging	Het
Pde1a	A	G	2: 79,898,064		probably null	Het
Pde9a	C	T	17: 31,455,120	P60S	probably damaging	Het
Pikfyve	C	A	1: 65,258,798	T1562K	probably benign	Het
Plekhg6	A	T	6: 125,375,839	M115K	probably damaging	Het
Pogz	C	T	3: 94,878,849	T863I	probably benign	Het
Ppp1r3a	A	T	6: 14,754,994	W85R	probably damaging	Het
Rnf123	C	A	9: 108,061,791	R826L	probably damaging	Het
Slc1a6	T	A	10: 78,812,924	V493E	probably damaging	Het
Slc22a2	A	G	17: 12,586,812	D150G	probably damaging	Het
Snap47	C	T	11: 59,428,333		probably benign	Het
Spata22	A	G	11: 73,340,559	D213G	probably benign	Het
St6galnac2	T	A	11: 116,690,315	R60S	probably benign	Het
Stk32c	A	G	7: 139,121,447	F263S	probably damaging	Het
Supt6	T	C	11: 78,232,540	I104V	possibly damaging	Het
Tex2	T	C	11: 106,546,876	E158G	possibly damaging	Het
Tiam2	C	T	17: 3,415,135	R380C	probably damaging	Het
Trim25	C	T	11: 89,015,581	T410I	probably benign	Het
Usp18	T	A	6: 121,262,117	C212S	probably benign	Het
Vmn1r2	A	G	4: 3,172,588	Y169C	probably damaging	Het
Wdr33	A	T	18: 31,906,856		probably benign	Het
Xpr1	A	G	1: 155,283,256	Y597H	probably benign	Het
Yy1	CGGG	CGGGGGGGGG	12: 108,793,990		probably benign	Het
Zfp54	T	A	17: 21,434,142	Y299*	probably null	Het
Zfp566	T	G	7: 30,078,502	S85R	probably benign	Het

Other mutations in Fbln7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00781:Fbln7	APN	2	128893851	missense	possibly damaging	0.93
IGL02161:Fbln7	APN	2	128889791	missense	probably benign	0.23
IGL02383:Fbln7	APN	2	128895557	missense	probably benign	0.00
IGL03273:Fbln7	APN	2	128895470	missense	probably benign	0.00
R0463:Fbln7	UTSW	2	128877511	missense	probably benign	0.06
R0541:Fbln7	UTSW	2	128877534	splice site	probably benign
R1036:Fbln7	UTSW	2	128893895	missense	possibly damaging	0.84
R1381:Fbln7	UTSW	2	128877379	missense	probably damaging	1.00
R1466:Fbln7	UTSW	2	128877429	missense	probably benign	0.00
R1466:Fbln7	UTSW	2	128877429	missense	probably benign	0.00
R1584:Fbln7	UTSW	2	128877429	missense	probably benign	0.00
R1769:Fbln7	UTSW	2	128893762	splice site	probably benign
R2065:Fbln7	UTSW	2	128877466	missense	probably damaging	0.99
R2066:Fbln7	UTSW	2	128877466	missense	probably damaging	0.99
R2067:Fbln7	UTSW	2	128877466	missense	probably damaging	0.99
R4666:Fbln7	UTSW	2	128894910	splice site	probably null
R4679:Fbln7	UTSW	2	128894886	missense	probably damaging	1.00
R4694:Fbln7	UTSW	2	128880425	splice site	probably null
R5933:Fbln7	UTSW	2	128877498	missense	probably benign
R6211:Fbln7	UTSW	2	128895340	missense	probably damaging	1.00
R6606:Fbln7	UTSW	2	128877376	missense	possibly damaging	0.71
R7519:Fbln7	UTSW	2	128893865	missense	probably benign	0.00
R9205:Fbln7	UTSW	2	128895248	missense	probably null	1.00
R9208:Fbln7	UTSW	2	128895423	missense	probably damaging	1.00
R9645:Fbln7	UTSW	2	128877396	missense	probably damaging	1.00
R9717:Fbln7	UTSW	2	128877394	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGGTTTTCCATGTCAGCTC -3'
(R):5'- TCATCATTCTTGAATGGGGACC -3'

Sequencing Primer
(F):5'- AGCCCTCTTGGTCCTAGACTGG -3'
(R):5'- GGACCGGGGATGAGAGC -3'

Posted On

2014-06-23