Mutagenetix > Incidental Mutation

Incidental Mutation 'R7884:Fank1'

608945

Institutional Source

Beutler Lab

Gene Symbol

Fank1

Ensembl Gene

ENSMUSG00000053111

Gene Name

fibronectin type 3 and ankyrin repeat domains 1

Synonyms

1700007B22Rik

MMRRC Submission

045936-MU

Accession Numbers

Essential gene?

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

Stock #

R7884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133378594-133483261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 133478554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 206 (R206P)

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: R206P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000069013
Gene: ENSMUSG00000053111
AA Change: R206P

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: R151P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119929
Gene: ENSMUSG00000053111
AA Change: R151P

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: R205P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	T	C	16: 38,422,593 (GRCm39)	T1158A	probably damaging	Het
Arhgap32	A	G	9: 32,171,810 (GRCm39)	E1530G	possibly damaging	Het
C3	A	G	17: 57,533,264 (GRCm39)	F113S	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Csmd1	T	C	8: 16,011,418 (GRCm39)	N2545S	probably damaging	Het
Ctsh	A	G	9: 89,943,476 (GRCm39)	D49G	probably benign	Het
Cyp7a1	T	A	4: 6,272,697 (GRCm39)	Y172F	probably benign	Het
Ddx52	A	G	11: 83,842,911 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 50,026,474 (GRCm39)	T1861A	possibly damaging	Het
Dnah7c	C	T	1: 46,830,929 (GRCm39)	L3813F	probably benign	Het
Efl1	A	G	7: 82,307,307 (GRCm39)	I68V	probably damaging	Het
Etnk2	T	C	1: 133,293,438 (GRCm39)	V127A	possibly damaging	Het
Fbxl9	A	G	8: 106,042,165 (GRCm39)	I221T	probably benign	Het
Fbxw27	G	A	9: 109,618,468 (GRCm39)	R73*	probably null	Het
Fndc1	A	T	17: 7,992,029 (GRCm39)	S556T	unknown	Het
Gnb3	T	C	6: 124,814,055 (GRCm39)	T178A	probably benign	Het
H2bc12	T	C	13: 22,220,225 (GRCm39)	S57P	probably damaging	Het
H2-M10.3	A	T	17: 36,677,174 (GRCm39)	L326Q	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,393,344 (GRCm39)		probably benign	Het
Kcnma1	G	A	14: 23,387,057 (GRCm39)	P995L	probably benign	Het
Lama1	G	A	17: 68,076,430 (GRCm39)	G1068D		Het
Lats1	A	T	10: 7,573,290 (GRCm39)	K125*	probably null	Het
Lipg	C	T	18: 75,081,078 (GRCm39)	M334I	probably damaging	Het
Loxhd1	A	T	18: 77,518,909 (GRCm39)	E1905V	probably damaging	Het
Lpin1	C	T	12: 16,612,370 (GRCm39)	G544D		Het
Lyst	A	T	13: 13,882,268 (GRCm39)	N2853I	probably benign	Het
Mars1	A	G	10: 127,136,114 (GRCm39)	I525T	probably damaging	Het
Miga2	T	A	2: 30,261,216 (GRCm39)	D170E	probably benign	Het
Mrpl34	T	C	8: 71,917,911 (GRCm39)	V28A	probably benign	Het
Muc16	A	T	9: 18,553,990 (GRCm39)	V4101E	unknown	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myo1f	A	G	17: 33,817,270 (GRCm39)	Y771C	probably damaging	Het
Nr2f1	G	A	13: 78,337,988 (GRCm39)	T376I	probably benign	Het
Nsd1	A	G	13: 55,461,068 (GRCm39)	T2535A	probably damaging	Het
Nup98	T	A	7: 101,825,556 (GRCm39)	T428S	probably benign	Het
Omd	A	G	13: 49,743,630 (GRCm39)	M227V	probably damaging	Het
Osbpl7	A	C	11: 96,951,283 (GRCm39)	I657L	possibly damaging	Het
Pdgfrb	T	C	18: 61,205,730 (GRCm39)	V572A	probably damaging	Het
Pik3c3	T	C	18: 30,445,624 (GRCm39)	V537A	probably benign	Het
Pou2f2	T	C	7: 24,815,489 (GRCm39)	M93V	probably benign	Het
Ppip5k2	T	C	1: 97,668,207 (GRCm39)	T640A	probably benign	Het
Ptar1	C	T	19: 23,686,158 (GRCm39)	P157S	probably benign	Het
Rapgef2	T	A	3: 78,973,933 (GRCm39)	D1471V	possibly damaging	Het
Rgs7	A	T	1: 174,977,216 (GRCm39)		probably null	Het
Rhag	A	G	17: 41,142,536 (GRCm39)	Y247C	probably benign	Het
Sardh	A	G	2: 27,129,383 (GRCm39)	I305T	probably damaging	Het
Scn11a	A	G	9: 119,633,617 (GRCm39)	I372T	probably benign	Het
Scn3a	G	T	2: 65,366,859 (GRCm39)	D54E	probably damaging	Het
Senp2	A	G	16: 21,832,981 (GRCm39)	T90A	probably benign	Het
Serpinh1	C	T	7: 98,998,495 (GRCm39)	R45H	probably benign	Het
Siglecg	T	C	7: 43,058,703 (GRCm39)	V152A	probably benign	Het
Sipa1l2	T	A	8: 126,174,337 (GRCm39)	M1314L	probably benign	Het
Slc23a1	A	G	18: 35,759,002 (GRCm39)	F63S	possibly damaging	Het
Slc25a40	T	A	5: 8,492,509 (GRCm39)	L133Q	probably damaging	Het
Slc6a16	A	G	7: 44,908,771 (GRCm39)	E117G	probably damaging	Het
Thoc2l	T	C	5: 104,669,212 (GRCm39)	S1245P	possibly damaging	Het
Tmem235	G	A	11: 117,755,033 (GRCm39)	V162M	probably benign	Het
Trank1	A	G	9: 111,221,584 (GRCm39)	T2774A	probably benign	Het
Trav10n	A	T	14: 53,359,587 (GRCm39)	H6L	probably benign	Het
Trav13d-3	G	A	14: 53,270,704 (GRCm39)	W55*	probably null	Het
Zfp654	G	T	16: 64,672,011 (GRCm39)	A2E	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably 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
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
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'- TTTATTTCCCACTCAGATGGCAAG -3'
(R):5'- TCAGAGCAAGTGACCAGGTC -3'

Sequencing Primer
(F):5'- CCCACTCAGATGGCAAGTTTTTGG -3'
(R):5'- AAGTGACCAGGTCGGCCAG -3'

Posted On

2019-12-20