Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02006:Fndc11'

183207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fndc11

Ensembl Gene

ENSMUSG00000047841

Gene Name

fibronectin type III domain containing 11

Synonyms

BC051628, 1700026M20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

IGL02006

Quality Score

Status

Chromosome

Chromosomal Location

180861806-180864647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 180863884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 230 (R230S)

Ref Sequence

ENSEMBL: ENSMUSP00000056320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050026] [ENSMUST00000108835]

AlphaFold

Q80WB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000050026
AA Change: R230S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000056320
Gene: ENSMUSG00000047841
AA Change: R230S

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
low complexity region	125	137	N/A	INTRINSIC
low complexity region	140	154	N/A	INTRINSIC
SCOP:d1fna__	224	309	2e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108835
AA Change: R230S

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104463
Gene: ENSMUSG00000047841
AA Change: R230S

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
low complexity region	125	137	N/A	INTRINSIC
low complexity region	140	154	N/A	INTRINSIC
SCOP:d1fna__	224	309	2e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117287

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,117,582 (GRCm39)	G182S	probably damaging	Het
Akr1b7	A	T	6: 34,392,385 (GRCm39)	N66I	probably benign	Het
Arrdc3	T	A	13: 81,031,893 (GRCm39)	I42N	probably damaging	Het
Atp6v0d2	G	T	4: 19,878,325 (GRCm39)	A316E	probably damaging	Het
Atp8a2	A	G	14: 60,094,497 (GRCm39)	V847A	possibly damaging	Het
Ccdc171	A	G	4: 83,713,479 (GRCm39)	N1173D	possibly damaging	Het
Crb2	A	C	2: 37,676,475 (GRCm39)	D152A	probably damaging	Het
Ecm1	T	C	3: 95,641,557 (GRCm39)	E559G	probably damaging	Het
Ephb1	A	G	9: 102,071,971 (GRCm39)		probably null	Het
Frem1	A	G	4: 82,911,037 (GRCm39)		probably null	Het
Fyco1	G	A	9: 123,658,896 (GRCm39)	Q427*	probably null	Het
Gm17541	A	G	12: 4,739,619 (GRCm39)		probably benign	Het
Gm5431	C	T	11: 48,779,330 (GRCm39)	V809M	probably damaging	Het
Gm7293	A	G	9: 51,534,043 (GRCm39)		noncoding transcript	Het
Ift52	T	C	2: 162,865,289 (GRCm39)	S47P	probably benign	Het
Iqcf6	A	G	9: 106,504,510 (GRCm39)	D58G	probably benign	Het
Itm2b	T	C	14: 73,600,488 (GRCm39)		probably benign	Het
Jakmip1	T	C	5: 37,278,331 (GRCm39)	I536T	probably damaging	Het
Kcnh1	T	G	1: 191,873,323 (GRCm39)	M3R	possibly damaging	Het
Kcnh5	G	T	12: 74,944,322 (GRCm39)	P976T	probably damaging	Het
Layn	G	A	9: 50,968,591 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,347,317 (GRCm39)	Q3126L	probably damaging	Het
Meioc	A	T	11: 102,565,092 (GRCm39)	D180V	probably damaging	Het
Myo15a	T	A	11: 60,401,954 (GRCm39)	C3066S	probably damaging	Het
Nbeal1	T	C	1: 60,311,418 (GRCm39)		probably null	Het
Negr1	T	C	3: 156,721,810 (GRCm39)		probably benign	Het
Nek1	T	A	8: 61,557,226 (GRCm39)	N940K	probably benign	Het
Nfkbib	A	T	7: 28,465,667 (GRCm39)		probably null	Het
Nol4	T	A	18: 23,054,975 (GRCm39)	T152S	probably damaging	Het
Oas3	G	T	5: 120,907,300 (GRCm39)	R446S	probably benign	Het
Oosp3	C	T	19: 11,676,784 (GRCm39)	L48F	probably damaging	Het
Or2r3	A	G	6: 42,449,025 (GRCm39)	V29A	probably benign	Het
Or2w25	T	C	11: 59,503,985 (GRCm39)	L65P	probably damaging	Het
Pik3ap1	C	A	19: 41,291,032 (GRCm39)	W500L	probably benign	Het
Ppih	A	G	4: 119,168,779 (GRCm39)		probably benign	Het
Ro60	G	T	1: 143,636,084 (GRCm39)		probably benign	Het
Slc7a15	T	C	12: 8,585,508 (GRCm39)		probably null	Het
Srl	T	C	16: 4,315,150 (GRCm39)	E164G	probably benign	Het
Tbx10	C	A	19: 4,048,186 (GRCm39)	T237K	probably damaging	Het
Vwa5b2	T	C	16: 20,415,843 (GRCm39)	V392A	probably damaging	Het
Wfdc5	A	T	2: 164,024,483 (GRCm39)		probably benign	Het
Xirp2	T	C	2: 67,342,306 (GRCm39)	F1516L	possibly damaging	Het
Znfx1	A	G	2: 166,897,683 (GRCm39)	C414R	probably damaging	Het

Other mutations in Fndc11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02123:Fndc11	APN	2	180,863,443 (GRCm39)	missense	probably benign	0.00
R1639:Fndc11	UTSW	2	180,863,374 (GRCm39)	missense	possibly damaging	0.92
R1946:Fndc11	UTSW	2	180,863,627 (GRCm39)	missense	probably benign	0.00
R2146:Fndc11	UTSW	2	180,863,918 (GRCm39)	missense	probably damaging	1.00
R2235:Fndc11	UTSW	2	180,864,067 (GRCm39)	missense	possibly damaging	0.90
R5254:Fndc11	UTSW	2	180,863,956 (GRCm39)	missense	possibly damaging	0.77
R6044:Fndc11	UTSW	2	180,863,459 (GRCm39)	missense	probably damaging	1.00
R7271:Fndc11	UTSW	2	180,863,893 (GRCm39)	missense	possibly damaging	0.53
R8693:Fndc11	UTSW	2	180,863,864 (GRCm39)	missense	probably damaging	1.00
R9568:Fndc11	UTSW	2	180,864,046 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07