Mutagenetix > Incidental Mutation

Incidental Mutation 'R5264:Fank1'

401602

Institutional Source

Beutler Lab

Gene Symbol

Fank1

Ensembl Gene

ENSMUSG00000053111

Gene Name

fibronectin type 3 and ankyrin repeat domains 1

Synonyms

1700007B22Rik

MMRRC Submission

042832-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R5264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133378594-133483261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133481621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 240 (D240G)

Ref Sequence

ENSEMBL: ENSMUSP00000069013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065359] [ENSMUST00000067680] [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: D240G

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

SMART Domains

Protein: ENSMUSP00000069013
Gene: ENSMUSG00000053111
AA Change: D240G

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: ENSMUST00000067680

SMART Domains

Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:Pep_M12B_propep	35	165	1.1e-27	PFAM
Pfam:Reprolysin_5	210	392	2.1e-24	PFAM
Pfam:Reprolysin_4	210	408	3.8e-16	PFAM
Pfam:Reprolysin	212	414	1.4e-74	PFAM
Pfam:Reprolysin_2	232	404	6e-18	PFAM
Pfam:Reprolysin_3	236	359	1.3e-16	PFAM
DISIN	431	506	4.29e-42	SMART
ACR	507	650	1.75e-67	SMART
transmembrane domain	705	727	N/A	INTRINSIC

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: D239G

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

Meta Mutation Damage Score

0.4606

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ckap2l	A	T	2: 129,127,299 (GRCm39)	M293K	probably benign	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Dnai7	A	G	6: 145,127,502 (GRCm39)	V469A	probably benign	Het
Efcab7	G	A	4: 99,735,372 (GRCm39)	R132H	probably benign	Het
Elovl4	T	C	9: 83,662,817 (GRCm39)	T239A	probably benign	Het
Fbln5	T	A	12: 101,723,703 (GRCm39)	M346L	possibly damaging	Het
Fbxl21	T	C	13: 56,680,136 (GRCm39)	F174L	probably benign	Het
Gns	A	G	10: 121,216,090 (GRCm39)	D279G	probably benign	Het
Hmcn1	A	G	1: 150,555,265 (GRCm39)	V2502A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Large2	A	G	2: 92,205,088 (GRCm39)		probably benign	Het
Lrrc8b	A	T	5: 105,628,118 (GRCm39)	I155F	probably damaging	Het
Morc2b	T	C	17: 33,357,353 (GRCm39)	I140V	probably benign	Het
Mrgprb5	G	A	7: 47,817,796 (GRCm39)	S313L	probably benign	Het
Nectin4	A	T	1: 171,211,273 (GRCm39)	T266S	probably benign	Het
Nsd1	C	T	13: 55,395,159 (GRCm39)	A1023V	possibly damaging	Het
Or51a39	T	C	7: 102,363,558 (GRCm39)	T21A	probably benign	Het
Paqr8	A	G	1: 21,005,332 (GRCm39)	H162R	possibly damaging	Het
Pclo	G	A	5: 14,726,937 (GRCm39)		probably benign	Het
Phactr4	T	C	4: 132,098,293 (GRCm39)	D325G	probably damaging	Het
Plcg2	A	T	8: 118,361,532 (GRCm39)	E1255V	possibly damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Polr3b	A	T	10: 84,503,280 (GRCm39)	Q399L	probably benign	Het
Ppp1r35	G	A	5: 137,778,286 (GRCm39)		probably benign	Het
Psd3	A	T	8: 68,166,377 (GRCm39)	D919E	probably benign	Het
Ptgs2	A	G	1: 149,978,481 (GRCm39)	T198A	possibly damaging	Het
Ptpn14	T	C	1: 189,564,997 (GRCm39)		probably null	Het
Ptprk	A	G	10: 28,461,582 (GRCm39)	Y39C	probably damaging	Het
R3hdm4	A	G	10: 79,749,175 (GRCm39)	Y75H	probably benign	Het
Rsph4a	A	G	10: 33,785,379 (GRCm39)	Y430C	probably damaging	Het
Samd12	C	T	15: 53,723,669 (GRCm39)	C8Y	probably damaging	Het
Sema3e	A	C	5: 14,276,662 (GRCm39)	L314F	probably damaging	Het
Sis	A	G	3: 72,857,089 (GRCm39)	F401L	probably damaging	Het
Smoc1	T	A	12: 81,151,474 (GRCm39)	S64T	probably damaging	Het
Socs5	T	A	17: 87,441,769 (GRCm39)	H236Q	probably damaging	Het
Spaca1	C	A	4: 34,049,863 (GRCm39)	R45L	possibly damaging	Het
Spag6	A	G	2: 18,750,324 (GRCm39)	K457E	probably benign	Het
Stat2	T	A	10: 128,116,934 (GRCm39)		probably null	Het
Tcp11l2	A	G	10: 84,449,524 (GRCm39)	I496M	probably damaging	Het
Ttll4	A	G	1: 74,725,535 (GRCm39)	I648V	possibly damaging	Het
Vmn2r67	T	C	7: 84,801,453 (GRCm39)	Y161C	probably damaging	Het
Wnt5b	A	T	6: 119,410,813 (GRCm39)	V171E	probably damaging	Het
Zfp236	T	C	18: 82,648,219 (GRCm39)	K933E	probably damaging	Het
Zfp236	T	C	18: 82,676,198 (GRCm39)	E373G	probably damaging	Het
Zfp617	A	G	8: 72,686,885 (GRCm39)	Y405C	probably damaging	Het
Zranb1	CTGATGATGATG	CTGATGATGATGATG	7: 132,584,556 (GRCm39)		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
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
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'- TAGCAGATGAGTATGGCAGC -3'
(R):5'- TGCTCAATTCTCAAGCCACG -3'

Sequencing Primer
(F):5'- TCCTAGGTGACTCAGCAATCC -3'
(R):5'- GCTCAATTCTCAAGCCACGTGTAG -3'

Posted On

2016-07-06