Mutagenetix > Incidental Mutation

Incidental Mutation 'R5353:Fank1'

423906

Institutional Source

Beutler Lab

Gene Symbol

Fank1

Ensembl Gene

ENSMUSG00000053111

Gene Name

fibronectin type 3 and ankyrin repeat domains 1

Synonyms

1700007B22Rik

MMRRC Submission

042932-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R5353 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

133378594-133483261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133478632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 232 (D232G)

Ref Sequence

ENSEMBL: ENSMUSP00000069013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065359] [ENSMUST00000121560] [ENSMUST00000151031] [ENSMUST00000209511]

AlphaFold

Q9DAM9

PDB Structure

Solution structure of fibronectin type III domain of mouse hypothetical protein [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000065359
AA Change: D232G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069013
Gene: ENSMUSG00000053111
AA Change: D232G

Domain	Start	End	E-Value	Type
FN3	9	94	4.74e-3	SMART
Blast:ANK	109	139	1e-9	BLAST
ANK	143	172	1.4e-4	SMART
ANK	176	205	3.18e-3	SMART
ANK	209	238	1.48e-3	SMART
ANK	243	273	2.5e-1	SMART
ANK	277	306	3.33e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121560

SMART Domains

Protein: ENSMUSP00000114136
Gene: ENSMUSG00000053111

Domain	Start	End	E-Value	Type
PDB:1WFU\|A	1	66	3e-43	PDB
Blast:FN3	9	66	3e-35	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000151031

SMART Domains

Protein: ENSMUSP00000119929
Gene: ENSMUSG00000053111

Domain	Start	End	E-Value	Type
Blast:FN3	1	39	6e-20	BLAST
PDB:1WFU\|A	1	52	3e-30	PDB
Blast:ANK	54	84	2e-10	BLAST
ANK	88	117	1.4e-4	SMART
ANK	121	150	3.18e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000209511
AA Change: D231G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

Meta Mutation Damage Score

0.1600

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	G	18: 61,934,470 (GRCm39)	S649P	probably damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Adamts1	T	A	16: 85,599,496 (GRCm39)	M35L	probably benign	Het
Adgrg3	A	T	8: 95,762,556 (GRCm39)	H202L	probably damaging	Het
Anln	G	T	9: 22,271,813 (GRCm39)	R681S	probably damaging	Het
Aprt	A	T	8: 123,302,147 (GRCm39)	M1K	probably null	Het
Arid3b	G	T	9: 57,702,320 (GRCm39)		probably null	Het
Cbl	A	G	9: 44,084,620 (GRCm39)	F172L	probably damaging	Het
Cd109	G	T	9: 78,617,521 (GRCm39)	V1340L	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Chrm3	A	G	13: 9,928,593 (GRCm39)	Y148H	probably damaging	Het
Cog7	A	C	7: 121,540,470 (GRCm39)		probably null	Het
Cpsf1	A	T	15: 76,486,771 (GRCm39)	I255N	probably damaging	Het
Crebzf	G	A	7: 90,092,622 (GRCm39)	G134R	probably damaging	Het
Crybg1	T	C	10: 43,849,661 (GRCm39)	S1705G	probably damaging	Het
Dock6	A	T	9: 21,726,082 (GRCm39)	H1409Q	probably benign	Het
Fat1	G	T	8: 45,489,168 (GRCm39)	V3480L	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fmn2	G	T	1: 174,330,572 (GRCm39)	G321W	unknown	Het
Greb1	A	T	12: 16,738,567 (GRCm39)	Y1465*	probably null	Het
Hdac9	G	A	12: 34,443,392 (GRCm39)	Q330*	probably null	Het
Kcnt2	C	T	1: 140,354,639 (GRCm39)	T298I	probably damaging	Het
Knl1	A	G	2: 118,901,464 (GRCm39)	D1055G	probably benign	Het
Mroh2b	T	C	15: 4,946,660 (GRCm39)	S487P	probably damaging	Het
Naa38	G	A	11: 69,287,408 (GRCm39)	V110I	probably benign	Het
Nkd2	T	C	13: 73,969,557 (GRCm39)	H303R	probably damaging	Het
Nr1d2	A	G	14: 18,222,125 (GRCm38)	C49R	probably benign	Het
Or4c111	A	G	2: 88,844,099 (GRCm39)	V103A	probably benign	Het
Or52b2	A	G	7: 104,986,324 (GRCm39)	Y200H	probably damaging	Het
Ovch2	T	A	7: 107,393,631 (GRCm39)	E165V	probably damaging	Het
Phyh	A	T	2: 4,947,012 (GRCm39)		probably benign	Het
Pik3r4	G	A	9: 105,545,137 (GRCm39)		probably null	Het
Ppip5k1	A	C	2: 121,142,201 (GRCm39)	V1416G	probably benign	Het
Ppm1b	T	C	17: 85,301,537 (GRCm39)	V139A	probably benign	Het
Ppp1r12a	T	G	10: 108,097,077 (GRCm39)		probably null	Het
Pramel20	A	G	4: 143,297,807 (GRCm39)	T76A	probably benign	Het
Psmc5	G	T	11: 106,152,327 (GRCm39)	A115S	probably damaging	Het
Ptpn5	T	A	7: 46,731,642 (GRCm39)	E409V	probably benign	Het
Ptprg	T	A	14: 11,554,235 (GRCm38)		probably benign	Het
Qrich1	G	T	9: 108,422,164 (GRCm39)	V593F	probably damaging	Het
Rbbp9	T	C	2: 144,385,741 (GRCm39)	I175V	probably benign	Het
Selenot	T	C	3: 58,493,387 (GRCm39)	F88S	possibly damaging	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Spred2	A	G	11: 19,968,155 (GRCm39)	D208G	possibly damaging	Het
Surf1	T	C	2: 26,804,204 (GRCm39)	T197A	probably benign	Het
Taco1	G	A	11: 105,963,539 (GRCm39)		probably null	Het
Tas2r109	A	G	6: 132,957,594 (GRCm39)	V112A	possibly damaging	Het
Tpr	C	T	1: 150,321,675 (GRCm39)	R3C	probably damaging	Het
Uggt2	A	G	14: 119,319,182 (GRCm39)	I280T	probably benign	Het
Yipf2	A	G	9: 21,503,228 (GRCm39)	Y80H	possibly damaging	Het
Zscan12	T	C	13: 21,548,178 (GRCm39)	V120A	possibly damaging	Het

Other mutations in Fank1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01487:Fank1	APN	7	133,481,638 (GRCm39)	missense	probably damaging	1.00
IGL02646:Fank1	APN	7	133,481,758 (GRCm39)	splice site	probably benign
IGL02973:Fank1	APN	7	133,478,578 (GRCm39)	missense	probably damaging	1.00
IGL03309:Fank1	APN	7	133,463,902 (GRCm39)	missense	probably damaging	0.97
PIT1430001:Fank1	UTSW	7	133,478,529 (GRCm39)	nonsense	probably null
R0620:Fank1	UTSW	7	133,478,494 (GRCm39)	missense	probably damaging	1.00
R0863:Fank1	UTSW	7	133,482,352 (GRCm39)	missense	possibly damaging	0.66
R1997:Fank1	UTSW	7	133,463,954 (GRCm39)	missense	probably damaging	0.96
R5103:Fank1	UTSW	7	133,478,570 (GRCm39)	nonsense	probably null
R5264:Fank1	UTSW	7	133,481,621 (GRCm39)	missense	probably damaging	1.00
R5523:Fank1	UTSW	7	133,478,569 (GRCm39)	missense	probably damaging	1.00
R5579:Fank1	UTSW	7	133,471,058 (GRCm39)	splice site	probably null
R5695:Fank1	UTSW	7	133,471,075 (GRCm39)	missense	probably damaging	1.00
R6226:Fank1	UTSW	7	133,463,927 (GRCm39)	missense	probably benign	0.05
R6996:Fank1	UTSW	7	133,478,627 (GRCm39)	missense	possibly damaging	0.95
R7225:Fank1	UTSW	7	133,454,988 (GRCm39)	missense	probably benign
R7884:Fank1	UTSW	7	133,478,554 (GRCm39)	missense	probably damaging	1.00
R8086:Fank1	UTSW	7	133,454,959 (GRCm39)	missense	possibly damaging	0.85
R8282:Fank1	UTSW	7	133,478,493 (GRCm39)	missense	probably damaging	1.00
R8678:Fank1	UTSW	7	133,463,957 (GRCm39)	critical splice donor site	probably null
R9787:Fank1	UTSW	7	133,463,887 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCTACAGTGGAGTCTGCTTC -3'
(R):5'- ACCATAGTTCCCCAGGGATC -3'

Sequencing Primer
(F):5'- AGTGGAGTCTGCTTCCTCTCTATG -3'
(R):5'- AAGGCCTTTCAAGCTCCTGAG -3'

Posted On

2016-08-04