Mutagenetix > Incidental Mutation

Incidental Mutation 'R6226:Fank1'

504339

Institutional Source

Beutler Lab

Gene Symbol

Fank1

Ensembl Gene

ENSMUSG00000053111

Gene Name

fibronectin type 3 and ankyrin repeat domains 1

Synonyms

1700007B22Rik

MMRRC Submission

044397-MU

Accession Numbers

Essential gene?

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

Stock #

R6226 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133378594-133483261 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133463927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 41 (Y41C)

Ref Sequence

ENSEMBL: ENSMUSP00000147559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065359] [ENSMUST00000121560] [ENSMUST00000151031] [ENSMUST00000209511] [ENSMUST00000211077]

AlphaFold

Q9DAM9

Predicted Effect

probably benign
Transcript: ENSMUST00000065359
AA Change: Y96C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000069013
Gene: ENSMUSG00000053111
AA Change: Y96C

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
AA Change: Y41C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000119929
Gene: ENSMUSG00000053111
AA Change: Y41C

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 benign
Transcript: ENSMUST00000209511
AA Change: Y95C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000211077
AA Change: Y41C

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	T	C	13: 12,293,853 (GRCm39)	T62A	probably benign	Het
Adam33	G	A	2: 130,897,530 (GRCm39)	T265I	probably damaging	Het
Afap1l2	T	C	19: 56,904,560 (GRCm39)	T654A	probably benign	Het
Agrn	A	G	4: 156,258,066 (GRCm39)	S992P	probably damaging	Het
Anapc1	A	G	2: 128,492,292 (GRCm39)	F939L	probably damaging	Het
Anks1	G	A	17: 28,276,304 (GRCm39)	V1016I	probably benign	Het
Ankzf1	A	G	1: 75,173,238 (GRCm39)	T401A	probably benign	Het
Atad1	G	T	19: 32,678,987 (GRCm39)	D105E	probably benign	Het
Carmil2	A	G	8: 106,415,664 (GRCm39)	T313A	possibly damaging	Het
Cdk15	T	C	1: 59,304,792 (GRCm39)	V131A	probably damaging	Het
Cldnd1	A	T	16: 58,551,663 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,948,882 (GRCm39)		probably benign	Het
Cts3	T	A	13: 61,716,535 (GRCm39)	I34L	probably benign	Het
Dnah7b	A	C	1: 46,165,828 (GRCm39)	K498Q	probably benign	Het
Dnase2b	A	G	3: 146,290,318 (GRCm39)	Y218H	probably benign	Het
Dsg2	T	A	18: 20,712,506 (GRCm39)	V170D	probably damaging	Het
Dst	T	C	1: 34,309,955 (GRCm39)	V1543A	probably damaging	Het
Ell3	A	T	2: 121,272,258 (GRCm39)	I72K	probably damaging	Het
Foxd3	T	C	4: 99,545,261 (GRCm39)	Y134H	probably damaging	Het
Frmd6	A	G	12: 70,910,685 (GRCm39)		probably benign	Het
Gale	A	G	4: 135,692,916 (GRCm39)	E53G	possibly damaging	Het
Glis3	A	G	19: 28,294,702 (GRCm39)	S699P	probably damaging	Het
Gm12830	T	A	4: 114,702,246 (GRCm39)	M136K	unknown	Het
Grik3	T	C	4: 125,553,582 (GRCm39)	V438A	probably benign	Het
Gsap	A	G	5: 21,422,429 (GRCm39)	N133D	probably damaging	Het
Gsg1	T	A	6: 135,217,110 (GRCm39)	D239V	probably damaging	Het
H2-T10	A	T	17: 36,431,975 (GRCm39)	W23R	probably damaging	Het
Itgae	A	G	11: 73,031,583 (GRCm39)	T1100A	probably benign	Het
Kcnh7	A	T	2: 62,607,903 (GRCm39)	F559L	probably damaging	Het
Kdm5b	G	T	1: 134,536,616 (GRCm39)	R612L	probably damaging	Het
Lrrc74a	T	A	12: 86,795,231 (GRCm39)	N253K	possibly damaging	Het
Mcm3ap	A	G	10: 76,351,540 (GRCm39)	H1961R	possibly damaging	Het
Ncam1	C	T	9: 49,476,304 (GRCm39)	E262K	probably benign	Het
Nckap1	A	G	2: 80,339,125 (GRCm39)	S968P	possibly damaging	Het
Nkapd1	T	C	9: 50,519,070 (GRCm39)	T181A	possibly damaging	Het
Nr2f2	T	G	7: 70,009,744 (GRCm39)	S112R	probably benign	Het
Nup93	T	C	8: 95,013,165 (GRCm39)	W137R	probably damaging	Het
Or10ag53	A	G	2: 87,082,736 (GRCm39)	S152G	probably benign	Het
Or2t26	A	G	11: 49,039,660 (GRCm39)	D192G	possibly damaging	Het
Or4a78	A	T	2: 89,497,333 (GRCm39)	L299H	probably damaging	Het
Or52n1	A	T	7: 104,383,243 (GRCm39)	F109L	probably damaging	Het
Or8b12	T	A	9: 37,657,433 (GRCm39)	M1K	probably null	Het
Or8b55	T	C	9: 38,727,666 (GRCm39)	I289T	probably damaging	Het
Otogl	A	T	10: 107,607,067 (GRCm39)	Y2105*	probably null	Het
Pibf1	A	G	14: 99,338,555 (GRCm39)	S24G	probably damaging	Het
Pitx2	C	T	3: 129,009,491 (GRCm39)	R130W	probably damaging	Het
Pkd1l1	T	C	11: 8,851,287 (GRCm39)	N715S	probably benign	Het
Pou6f2	A	T	13: 18,303,739 (GRCm39)	I123N	possibly damaging	Het
Prss29	T	A	17: 25,539,513 (GRCm39)	H35Q	possibly damaging	Het
Ptpn21	A	G	12: 98,646,375 (GRCm39)	F1028L	probably benign	Het
Ptpn21	A	T	12: 98,681,431 (GRCm39)	Y68N	probably damaging	Het
Ptprk	A	G	10: 28,440,099 (GRCm39)	T856A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpl22l1	A	G	3: 28,860,676 (GRCm39)	T13A	possibly damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sec14l5	G	A	16: 4,994,429 (GRCm39)	V408I	probably damaging	Het
Serpina5	T	C	12: 104,068,037 (GRCm39)	S33P	possibly damaging	Het
Sgip1	A	G	4: 102,823,392 (GRCm39)	N524S	probably damaging	Het
Shkbp1	C	A	7: 27,051,405 (GRCm39)	R218M	probably null	Het
Sorcs1	T	A	19: 50,169,852 (GRCm39)	I970F	probably damaging	Het
Spg11	A	G	2: 121,918,743 (GRCm39)	V962A	possibly damaging	Het
Sptbn1	A	G	11: 30,086,054 (GRCm39)	M1205T	probably damaging	Het
Sufu	G	A	19: 46,462,093 (GRCm39)	V369M	probably damaging	Het
Tmem98	T	C	11: 80,712,220 (GRCm39)	F219S	probably benign	Het
Trim27	T	C	13: 21,365,086 (GRCm39)		probably benign	Het
Trim43b	T	C	9: 88,973,328 (GRCm39)	E135G	possibly damaging	Het
Ube2m	A	G	7: 12,769,815 (GRCm39)	V110A	probably damaging	Het
Ugt2b36	A	G	5: 87,239,989 (GRCm39)	V132A	probably damaging	Het
Usp36	A	T	11: 118,168,100 (GRCm39)	S86T	probably damaging	Het
Zfp941	A	T	7: 140,392,398 (GRCm39)	D320E	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
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
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'- ACTTGCATTGTCAGTGGAAGATTG -3'
(R):5'- TAGGAGGCGTTACCACAGAC -3'

Sequencing Primer
(F):5'- AGGCAGGCATCACTGTCAG -3'
(R):5'- GACCTCACAAATGGAGCGCTTTC -3'

Posted On

2018-02-28