Mutagenetix > Incidental Mutation

Incidental Mutation 'R5401:Fndc8'

430005

Institutional Source

Beutler Lab

Gene Symbol

Fndc8

Ensembl Gene

ENSMUSG00000018844

Gene Name

fibronectin type III domain containing 8

Synonyms

4930466G16Rik

MMRRC Submission

042972-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R5401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82782971-82791563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 82788676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 169 (S169A)

Ref Sequence

ENSEMBL: ENSMUSP00000018988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018988] [ENSMUST00000103213]

AlphaFold

Q9D2H8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018988
AA Change: S169A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018988
Gene: ENSMUSG00000018844
AA Change: S169A

Domain	Start	End	E-Value	Type
low complexity region	159	170	N/A	INTRINSIC
FN3	176	264	9.48e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103213

SMART Domains

Protein: ENSMUSP00000099502
Gene: ENSMUSG00000020692

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
Pfam:NLE	17	77	3.6e-15	PFAM
WD40	103	142	5.22e-12	SMART
WD40	145	184	1.48e-11	SMART
WD40	188	232	1.66e-5	SMART
WD40	235	273	3.11e-10	SMART
WD40	276	357	1.14e-3	SMART
WD40	361	400	8.81e-10	SMART
WD40	403	442	1.69e-11	SMART
WD40	445	484	9.44e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140318

Predicted Effect

probably benign
Transcript: ENSMUST00000167196

Meta Mutation Damage Score

0.0741

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	A	G	9: 39,962,338 (GRCm39)		noncoding transcript	Het
1700025H01Rik	G	T	16: 30,018,801 (GRCm39)		noncoding transcript	Het
9330159F19Rik	T	C	10: 29,101,136 (GRCm39)	V503A	probably benign	Het
Acacb	A	G	5: 114,347,914 (GRCm39)	N995S	possibly damaging	Het
Anapc4	A	G	5: 53,020,991 (GRCm39)	K630R	probably benign	Het
Ankrd13a	A	C	5: 114,930,234 (GRCm39)	Q206H	probably damaging	Het
Ano10	A	T	9: 122,090,356 (GRCm39)	L319Q	probably damaging	Het
Camkk2	T	A	5: 122,884,398 (GRCm39)	D341V	probably damaging	Het
Ccdc88a	A	G	11: 29,413,279 (GRCm39)	I606V	probably benign	Het
Cdv3	G	T	9: 103,242,316 (GRCm39)		probably benign	Het
Cep97	A	G	16: 55,745,315 (GRCm39)	V155A	probably benign	Het
Cmya5	T	C	13: 93,228,476 (GRCm39)	E2204G	probably damaging	Het
Cracr2b	A	G	7: 141,046,136 (GRCm39)	*395W	probably null	Het
Defa27	A	G	8: 21,805,710 (GRCm39)	E50G	possibly damaging	Het
Dnah7a	A	G	1: 53,670,812 (GRCm39)	I480T	probably benign	Het
Ep400	C	A	5: 110,831,037 (GRCm39)	D2210Y	unknown	Het
Fam170a	T	A	18: 50,413,618 (GRCm39)	S28T	probably benign	Het
Fancc	C	A	13: 63,550,767 (GRCm39)	K18N	probably damaging	Het
Flt4	AC	ACC	11: 49,541,861 (GRCm39)		probably null	Het
Get3	A	T	8: 85,745,173 (GRCm39)	I298N	possibly damaging	Het
Herc1	T	C	9: 66,409,338 (GRCm39)	Y4688H	probably damaging	Het
Ighv11-2	A	T	12: 114,011,959 (GRCm39)	D85E	possibly damaging	Het
Kat14	T	C	2: 144,231,180 (GRCm39)	F196L	possibly damaging	Het
Kctd19	C	T	8: 106,109,617 (GRCm39)	V942I	probably benign	Het
Llgl1	A	G	11: 60,597,297 (GRCm39)	S249G	probably benign	Het
Map1a	T	C	2: 121,130,153 (GRCm39)	V323A	probably damaging	Het
Or4m1	C	A	14: 50,557,566 (GRCm39)	C242F	probably damaging	Het
Phf21a	C	A	2: 92,182,097 (GRCm39)	T342K	possibly damaging	Het
Piezo2	T	A	18: 63,217,811 (GRCm39)	D1122V	possibly damaging	Het
Pklr	A	G	3: 89,049,173 (GRCm39)	Y173C	probably damaging	Het
Plcz1	G	T	6: 139,938,778 (GRCm39)		probably null	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Prom1	A	T	5: 44,158,147 (GRCm39)	Y845N	probably damaging	Het
Qng1	C	A	13: 58,530,405 (GRCm39)	A202S	probably benign	Het
Ret	A	T	6: 118,158,936 (GRCm39)	S159T	probably benign	Het
Rfx1	C	A	8: 84,793,005 (GRCm39)		probably null	Het
Scp2	A	T	4: 108,001,976 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Smad5	T	C	13: 56,875,282 (GRCm39)	F157L	probably benign	Het
Smarcc2	C	A	10: 128,301,373 (GRCm39)	D210E	probably damaging	Het
Sptlc3	T	C	2: 139,478,643 (GRCm39)	L534P	possibly damaging	Het
Srrm1	A	G	4: 135,051,380 (GRCm39)		probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Sugct	T	A	13: 17,032,455 (GRCm39)	Q432H	probably damaging	Het
Tex9	A	T	9: 72,394,060 (GRCm39)		probably null	Het
Tsc1	C	A	2: 28,576,920 (GRCm39)	S1073*	probably null	Het
Vmn1r72	T	C	7: 11,403,843 (GRCm39)	S202G	probably damaging	Het
Vmn2r55	A	G	7: 12,385,871 (GRCm39)	V703A	probably benign	Het
Vmn2r67	A	T	7: 84,785,765 (GRCm39)	Y747N	probably damaging	Het
Zcchc4	A	G	5: 52,964,419 (GRCm39)	I292V	probably benign	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	probably benign	Het
Zswim2	C	T	2: 83,755,589 (GRCm39)	G104E	possibly damaging	Het

Other mutations in Fndc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02392:Fndc8	APN	11	82,789,429 (GRCm39)	missense	probably damaging	1.00
R0066:Fndc8	UTSW	11	82,788,398 (GRCm39)	missense	probably benign	0.38
R0066:Fndc8	UTSW	11	82,788,398 (GRCm39)	missense	probably benign	0.38
R1827:Fndc8	UTSW	11	82,790,355 (GRCm39)	missense	probably damaging	0.97
R2179:Fndc8	UTSW	11	82,789,580 (GRCm39)	missense	probably damaging	1.00
R4504:Fndc8	UTSW	11	82,783,226 (GRCm39)	missense	probably benign	0.21
R5889:Fndc8	UTSW	11	82,789,555 (GRCm39)	missense	probably damaging	0.99
R5960:Fndc8	UTSW	11	82,788,398 (GRCm39)	missense	probably benign	0.15
R6793:Fndc8	UTSW	11	82,788,412 (GRCm39)	missense	probably damaging	1.00
R6798:Fndc8	UTSW	11	82,783,217 (GRCm39)	missense	probably benign
R7210:Fndc8	UTSW	11	82,788,692 (GRCm39)	missense	probably damaging	0.99
R7224:Fndc8	UTSW	11	82,783,151 (GRCm39)	missense	probably benign	0.05
R7341:Fndc8	UTSW	11	82,789,603 (GRCm39)	missense	possibly damaging	0.81
R7576:Fndc8	UTSW	11	82,788,400 (GRCm39)	missense	probably damaging	1.00
R8190:Fndc8	UTSW	11	82,788,686 (GRCm39)	missense	probably damaging	1.00
R9030:Fndc8	UTSW	11	82,789,522 (GRCm39)	missense	probably benign	0.03
R9399:Fndc8	UTSW	11	82,788,739 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTCCGTCCACTCTGATGAACC -3'
(R):5'- GTCAGAACACGCGGGTTATTC -3'

Sequencing Primer
(F):5'- AATAGCAGCTTCTTTGCCGG -3'
(R):5'- GCGGGTTATTCCTCCACAAAAC -3'

Posted On

2016-09-06