Mutagenetix > Incidental Mutation

Incidental Mutation 'R9205:Fbln7'

698424

Institutional Source

Beutler Lab

Gene Symbol

Fbln7

Ensembl Gene

ENSMUSG00000027386

Gene Name

fibulin 7

Synonyms

1600015H20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9205 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128862981-128897034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 128895248 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 328 (S328R)

Ref Sequence

ENSEMBL: ENSMUSP00000028864 (fasta)

Gene Model

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

AlphaFold

Q501P1

Predicted Effect

probably null
Transcript: ENSMUST00000028864
AA Change: S328R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028864
Gene: ENSMUSG00000027386
AA Change: S328R

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: S328R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105953
Gene: ENSMUSG00000027386
AA Change: S328R

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: 99.6%
20x: 98.3%

Validation Efficiency

95% (76/80)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	T	A	6: 140,642,228	H341Q	probably damaging	Het
Apob	G	A	12: 7,980,635	A125T	probably damaging	Het
Bace2	G	T	16: 97,356,859	A20S	unknown	Het
Bcar1	T	C	8: 111,715,709	Y238C	probably damaging	Het
Brinp3	A	T	1: 146,902,089	D758V	possibly damaging	Het
Btnl10	T	C	11: 58,920,519	S223P	probably damaging	Het
Cckar	C	T	5: 53,707,245		probably null	Het
Cdhr2	A	G	13: 54,713,988	N66S	probably benign	Het
Chd9	A	G	8: 91,030,642	M1890V	probably benign	Het
Col6a5	C	T	9: 105,878,638	G2196R	probably damaging	Het
Col9a1	T	G	1: 24,185,094	M119R	unknown	Het
Cryaa	A	G	17: 31,679,668	H123R	probably damaging	Het
Cux1	A	T	5: 136,370,135	D171E	probably damaging	Het
Dgkz	T	A	2: 91,933,799	T1067S	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah5	T	C	15: 28,448,334	M4181T	possibly damaging	Het
Dnajb14	A	G	3: 137,908,384	E352G	possibly damaging	Het
Dnmt3l	T	A	10: 78,056,752		probably null	Het
Dph6	T	C	2: 114,569,514	I117V	probably damaging	Het
Dsg1a	A	G	18: 20,340,171	D767G	probably damaging	Het
Edn3	C	T	2: 174,761,689	P77S	possibly damaging	Het
Elmsan1	A	C	12: 84,152,887	F1020V	probably benign	Het
Fbn2	T	C	18: 58,059,356	R1518G	probably damaging	Het
Foxi2	A	T	7: 135,411,796	T252S	probably benign	Het
Foxred2	A	G	15: 77,952,006	S384P	probably damaging	Het
Gdpd1	G	A	11: 87,045,183	H174Y	probably benign	Het
Gm10542	A	C	18: 44,204,638	D61A	possibly damaging	Het
Gm10563	TTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTC	4: 155,635,850		probably benign	Het
H2-Ab1	A	G	17: 34,265,007	E114G	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Igfn1	C	T	1: 135,975,957	V348I	probably damaging	Het
Itpr1	T	A	6: 108,489,849	L2173Q	probably damaging	Het
Lamp5	A	G	2: 136,059,601	Y115C	probably damaging	Het
Lrp1	T	A	10: 127,594,981	K400*	probably null	Het
Man2a2	C	T	7: 80,361,120	V708I	probably benign	Het
Matr3	T	C	18: 35,587,721	S746P	probably benign	Het
Me1	C	T	9: 86,598,794	V353M	probably benign	Het
Nbeal1	T	A	1: 60,278,680	D1925E	probably damaging	Het
Oca2	T	A	7: 56,316,420	F387I	probably damaging	Het
Olfr1163	T	A	2: 88,070,434	H316L	probably benign	Het
Olfr181	T	G	16: 58,926,122	I150L	probably benign	Het
Olfr181	G	T	16: 58,926,123	F149L	probably benign	Het
Olfr212	T	A	6: 116,516,354	N192K	probably benign	Het
Olfr420	T	C	1: 174,158,890	I39T	probably benign	Het
Olfr912	T	A	9: 38,582,077	S267T	probably benign	Het
Opn3	G	T	1: 175,663,089	N335K	probably benign	Het
Osm	A	G	11: 4,238,504	N44D	possibly damaging	Het
Otop2	T	C	11: 115,329,086	Y251H	probably damaging	Het
Pappa	T	C	4: 65,156,375	S389P	possibly damaging	Het
Polr1d	C	T	5: 147,101,258	A19V	probably damaging	Het
Ptchd4	G	A	17: 42,503,385	V726M	probably benign	Het
Pzp	T	A	6: 128,496,663	D731V	probably benign	Het
Rgl2	A	T	17: 33,936,028	I669F	probably damaging	Het
Rpl38	T	C	11: 114,672,288	*71R	probably null	Het
Rufy1	G	A	11: 50,398,474	R514W	probably damaging	Het
Ruvbl2	G	A	7: 45,434,317		probably benign	Het
Scn9a	T	G	2: 66,533,313	I874L	probably damaging	Het
Slc14a2	A	G	18: 78,195,736	S85P	probably benign	Het
Slc17a1	A	G	13: 23,878,811	I287V	probably benign	Het
Slc35f3	T	A	8: 126,389,189	I285N	probably damaging	Het
Slx4	A	G	16: 3,988,063	S542P	possibly damaging	Het
Sox30	A	T	11: 46,017,353	L782F	probably damaging	Het
Sspo	A	G	6: 48,455,872	N894S	probably benign	Het
Syne1	G	A	10: 5,202,013	Q5765*	probably null	Het
Taar7e	T	C	10: 24,038,074	I154T	probably benign	Het
Tars	A	G	15: 11,397,179		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem198b	A	T	10: 128,803,188	C29S	probably damaging	Het
Tnr	A	C	1: 159,895,047	M1021L	probably benign	Het
Tom1l1	G	A	11: 90,657,818	P309L	probably damaging	Het
Traf4	A	G	11: 78,161,101	S186P	probably benign	Het
Trpm1	T	G	7: 64,240,571	V974G	possibly damaging	Het
Tsga10	T	A	1: 37,841,278		probably benign	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r93	A	T	17: 18,304,019	I92F	probably damaging	Het
Zfp457	A	T	13: 67,293,901	D203E	probably benign	Het
Zfp518b	G	A	5: 38,674,158	S168F	probably damaging	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,890,600		probably benign	Het
Zfp777	G	A	6: 48,025,587	T523M	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
R1855:Fbln7	UTSW	2	128893835	missense	possibly damaging	0.65
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
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'- TGTGAGTATATCCAGGGCTGC -3'
(R):5'- GAGCGCTGCATTACGAAGTG -3'

Sequencing Primer
(F):5'- AGCGTGGCACTTACTCAG -3'
(R):5'- TGCATTACGAAGTGGCCAC -3'

Posted On

2022-02-07