Mutagenetix > Incidental Mutation

Incidental Mutation 'R0620:Fank1'

58604

Institutional Source

Beutler Lab

Gene Symbol

Fank1

Ensembl Gene

ENSMUSG00000053111

Gene Name

fibronectin type 3 and ankyrin repeat domains 1

Synonyms

1700007B22Rik

MMRRC Submission

038809-MU

Accession Numbers

Essential gene?

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

Stock #

R0620 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

133378594-133483261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133478494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 185 (Y185C)

Ref Sequence

ENSEMBL: ENSMUSP00000147964 (fasta)

Gene Model

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

AlphaFold

Q9DAM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000065359
AA Change: Y186C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069013
Gene: ENSMUSG00000053111
AA Change: Y186C

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 damaging
Transcript: ENSMUST00000151031
AA Change: Y131C

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

SMART Domains

Protein: ENSMUSP00000119929
Gene: ENSMUSG00000053111
AA Change: Y131C

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: Y185C

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

Meta Mutation Damage Score

0.1752

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,835,094 (GRCm39)	T679A	possibly damaging	Het
Ahr	T	C	12: 35,558,193 (GRCm39)	T276A	probably benign	Het
Akap9	A	T	5: 4,114,136 (GRCm39)	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,382,689 (GRCm39)	F7I	probably benign	Het
B3galt2	A	G	1: 143,521,878 (GRCm39)	R5G	probably damaging	Het
Bod1l	T	C	5: 41,958,576 (GRCm39)	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,395 (GRCm39)	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,778,080 (GRCm39)		probably null	Het
Cemip2	T	A	19: 21,795,335 (GRCm39)	S743T	probably benign	Het
Cst7	T	A	2: 150,417,806 (GRCm39)		probably benign	Het
Defb30	A	T	14: 63,287,212 (GRCm39)		probably benign	Het
Dido1	C	T	2: 180,301,644 (GRCm39)	G2087S	probably benign	Het
Dio2	A	G	12: 90,704,845 (GRCm39)	Y72H	probably benign	Het
Dnah11	C	T	12: 117,951,204 (GRCm39)	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,152,456 (GRCm39)	K287E	possibly damaging	Het
Dnajc11	G	A	4: 152,058,085 (GRCm39)	V244I	possibly damaging	Het
Ect2	C	T	3: 27,193,801 (GRCm39)	A226T	probably damaging	Het
Ercc8	G	A	13: 108,310,595 (GRCm39)		probably null	Het
Fam120b	T	A	17: 15,623,189 (GRCm39)	M389K	probably benign	Het
Fam151a	A	G	4: 106,605,128 (GRCm39)	M497V	probably benign	Het
Fam186b	C	A	15: 99,178,009 (GRCm39)	G439V	probably benign	Het
Gart	T	C	16: 91,427,490 (GRCm39)		probably benign	Het
Glb1l	T	C	1: 75,176,364 (GRCm39)	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,549,263 (GRCm39)	A164T	unknown	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,731,542 (GRCm39)	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,356,934 (GRCm39)	T144M	probably damaging	Het
Haus6	A	T	4: 86,501,751 (GRCm39)	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,469,767 (GRCm39)	T4971S	probably benign	Het
Ints6	A	T	14: 62,934,208 (GRCm39)	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330 (GRCm39)	M650K	probably damaging	Het
Kif21b	T	C	1: 136,087,166 (GRCm39)	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,591,598 (GRCm39)	Q176H	possibly damaging	Het
Ky	T	C	9: 102,414,820 (GRCm39)	V244A	probably benign	Het
Mia2	T	A	12: 59,201,205 (GRCm39)	L191M	possibly damaging	Het
Miga2	T	A	2: 30,271,756 (GRCm39)		probably benign	Het
Mtss2	C	T	8: 111,464,580 (GRCm39)	P322S	probably damaging	Het
Nalcn	A	G	14: 123,536,553 (GRCm39)		probably benign	Het
Ncbp3	T	A	11: 72,940,671 (GRCm39)		probably benign	Het
Nprl3	G	A	11: 32,184,876 (GRCm39)	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,994,635 (GRCm39)	M184L	probably benign	Het
Or11g1	G	T	14: 50,651,154 (GRCm39)	C51F	probably benign	Het
Or9e1	T	G	11: 58,732,269 (GRCm39)	C110G	probably damaging	Het
Osbpl9	T	C	4: 108,940,325 (GRCm39)	E287G	probably damaging	Het
Parva	T	C	7: 112,175,618 (GRCm39)	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,554,864 (GRCm39)	Q65*	probably null	Het
Phtf1	A	G	3: 103,901,081 (GRCm39)	T377A	probably damaging	Het
Pkp4	G	A	2: 59,152,987 (GRCm39)	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,169,707 (GRCm39)	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092 (GRCm39)		probably benign	Het
Pole2	A	C	12: 69,256,653 (GRCm39)	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,994,944 (GRCm39)	F586L	probably benign	Het
Prrx1	G	A	1: 163,085,385 (GRCm39)	R182C	probably damaging	Het
Ptprs	A	G	17: 56,736,103 (GRCm39)	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 92,067,936 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,229,873 (GRCm39)	Q973L	probably damaging	Het
Riox2	T	C	16: 59,312,255 (GRCm39)	V464A	probably benign	Het
Robo2	A	G	16: 73,764,690 (GRCm39)	V646A	possibly damaging	Het
Ros1	T	A	10: 51,994,444 (GRCm39)	I1279F	probably damaging	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Snx7	T	C	3: 117,640,324 (GRCm39)	N62D	probably damaging	Het
Sp100	G	A	1: 85,587,588 (GRCm39)		probably null	Het
Stil	A	T	4: 114,864,356 (GRCm39)	I86L	possibly damaging	Het
Tbc1d16	T	A	11: 119,099,864 (GRCm39)	D170V	probably benign	Het
Trappc13	G	A	13: 104,297,589 (GRCm39)	T105M	probably damaging	Het
Trhr	T	A	15: 44,092,896 (GRCm39)	S378T	probably benign	Het
Ttc7b	T	C	12: 100,466,332 (GRCm39)		probably null	Het
Vegfc	A	T	8: 54,610,174 (GRCm39)	Y110F	probably benign	Het
Vmn1r184	C	A	7: 25,966,602 (GRCm39)	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,411,235 (GRCm39)	C444*	probably null	Het
Zfp341	A	G	2: 154,476,193 (GRCm39)	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,265,868 (GRCm39)	V41E	probably benign	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
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
R5353:Fank1	UTSW	7	133,478,632 (GRCm39)	missense	probably damaging	0.99
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'- TCACACAGTTGCTCACCCATCG -3'
(R):5'- TTCAAGCTCCTGAGCTGGAGACTC -3'

Sequencing Primer
(F):5'- gcatttcattgcatggatttgac -3'
(R):5'- gcccatctgcctgcctC -3'

Posted On

2013-07-11